Sorry! Let me recap a year...

Time sure flies when your busy! Next thing you know it's been a whole year since your last blog update. Sorry friends and family, new and old! For those of you who are new to Audrey let me give you a brief introduction. She is a sweet six year old girl who loves anything pink and sparkly! Even at the age of six, when it's time to leave the house she puts on her Cinderella heels and piles on the "jewelry" making sure to grab a purse filled with "treasure." She's that kind of girl :) She also happens to have mitochondrial disease which has stolen pieces of her body and life over the last 4 years. This terrible disease has lead to severe GI dysmotiliy resulting in an ileostomy and total dependence on IV nutrition, neurogenic bladder requiring a mitrofanoff, intermittent hypoxia requiring intermittent oxygen, dysautonomia, adrenal insufficiency, POTS, hypoglycemia, immune deficiency, learning disabilities and so much more. Feel free to scroll back over previous posts for more details :) Now, lets see if I can fill in the gaps and catch you up to sweet A today :)

January 2015....the new year started strong but her nemesis of low blood pressure overnight was prominent. Audrey suffers from dysautonomia. This is best described as everything your body should do automatically doesn't work quite right for her. You can tell during the summer when it's hot out, her body is hot instead of cooling down. During the winter when it's cold, her body is cold instead of warming up. Overnight when her body is resting her autonomic system seems to rest too. Unfortunately that means her blood pressure drops dangerously low and we can't wake her up. She resembles an unconscious person with no movement, her skin is cool, her color is grey. Disconcerting to say the least. It also stumps her doctors because there are very few medications on the market meant to increase blood pressure, especially in a five year old! So January saw a small hole in her line which required a quick trip to the emergency room for a repair. While waiting for her repair, she fell asleep and the ED staff witnessed her sleepy autonomic system. This earned her a couple night stay in the PICU. Once again, her doctors were stumped and so we returned home without any solutions.

February was much the same. Her doctors were getting more desperate at this point and thinking of trying newer medication which had not been tried in children her age. They were also discussing off label uses with medications such as caffeine. We were giving as much as 400mg of caffeine at bedtime in an effort to increase her blood pressure...all that was happening was a bad tummy ache. Aside from her overnight drama, keeping myself up, she was doing fairly well during the day. She had been out of the hospital since November and had only had a quick colonoscopy with her surgeon in December. She was otherwise "stable."

Stable in mito is so misguiding. It lures you into this false sense of security that maybe everything will work out. Maybe she will be the one to beat the odds. This next part will be long and detailed. I haven't written these experiences out and only my best friend knows the terror and horror I felt and still flashback to all these months later...
March started off great! Her best friend was staying with us. We had a couple snow days which were great fun. Things were going well. Still dealing with her pesky BP at night but no major changes. On March 10, her GJ tube was accidentally pulled out. No big deal! It had been six months since her last change and by the looks of this fuzzy, black tube it was way over due! She had it switched out on March 11, as painlessly as possible for someone with chronic intestinal pain, and we thought all was well. The night of March 12th Audrey said she wasn't feeling well. She quickly wasn't looking herself and her heart rate was rapidly increasing. As I ran around the house packing for the hospital her fever started. I rushed her to her hospital. Though she was sick, she was just stable enough for me to make the extra trip to her hospital, to the doctors and teams that know her best. She was taken straight into the trauma room because by then she was so lethargic they were doing jaw thrusts to try to get some sort of response from her. Working of the assumption she was septic, cultures were taken and heavy antibiotics were started. It was already Friday the 13th at this point. She finally stabilized enough they sent her to the floor and she looked ok the rest of Friday into Saturday. Saturday early evening her temperature respiked and she quickly decompensated. By change of shift, her nurses that knew her so well were calling a rapid response to the ICU and we got the news that her latest blood cultures were growing yeast. Anyone with a immunosuppressed child and a central line knows to fear that organism. If there is one thing that will steal your child from you, it's fungal sepsis. So she was sent to the ICU were the doctor reassured me she wasn't "too" sick so hopefully a couple days on antifungals and she would be back to her regular floor. She remained stablily sick if that makes any sense. Not getting better and maybe getting a little worse each day. By Monday her fever was difficult to control even with the cooling blanket and IV tylenol. She was working a little harder to breath and she was on increasingly more oxygen. By 3am Tuesday they were trying bipap which failed and at 7am she was being intubated.
   So I have been a nurse for over 10 years. I have seen more intubations then I can count. Nothing prepared me for that moment when her amazing fellow walked in and said, "I'm sorry your daughter is not doing well." I sobbed like the mother I was, forgetting all of my nurse training, feeling terrified for my little five year old surrounded by so many people trying to keep her alive. I held her hand as meds were given and she was quickly intubated and placed on a ventilator. I prayed for her to continue to fight and begged her not to leave me. The next two weeks were the scariest I have ever lived. I saw my daughter with oxygen levels at 18, far below the 100 that she should be. I saw her medical team exhausted and running out of options. She failed different modes of ventilation, she showed no improvement with other gases such as nitric oxide. She stopped responding to her sedation medications so she coughed and gagged for hours on end. We knew she had developed ARDS and that her lungs were very sick. What no one knew was whether or not she would be able to recover. In between her coughing and endless amounts of medications being given, she was responding to me. I had a couple of little smiles from her which gave me hope that she was still there, still fighting. Finally after two weeks, we were out of sedation options. It was either try to push her lungs off the ventilator or put her in a medically induced coma and lose what precious few gains had been made. We opted to try to push her body. To everyones great surprise, she started to improve. Every day I anxiously listened to rounds, hoping to hear, this was the day she would be extubated. Finally, through my begging and pleading, the doctors gave her a try at extubation though she wasn't quite where they wanted her to be. After 20 days on a ventilator my girl was breathing on her own!!! Within 24 hours she was out of the ICU and back to her regular floor. A changed girl for sure, but I knew she would recover. She was too weak to hold her head up. She was on 2 liters of oxygen continuously. She had lost all her muscle mass in her legs and arms. Within a week, she was strong enough to sit up and she had been weaned off the last of her sedation medications so she was sent home!!! My sweet girl showed everyone just what a strong fighter she really was. That being said, I know my girl is truly and miracle. Without the endless prayers from family and friends she would not be where she's at today.
   Unfortunately she was only home for a week when she was readmitted for a UTI. Then she was home another 10 days and was readmitted with a blood clot in her left jugular. Yet another medication to be added, now she had to follow with hematology for blood clots and anticoagulants. But through this time, she continued to get stronger. She was walking on her own, she was building muscle, and six weeks after she was ill, she returned to her precious ballet class.

The following months were times of hope. She was able to perform in her ballet recital. She restarted her IV immunoglobin to stop the relentless infections that were threatening her. She had her gallbladder removed in June and then...nothing. Absolutely nothing happened all summer! She played with her friend, she went swimming, she laughed and loved and was far way from the hospital and doctors. It was a time of healing for Audrey and myself. We enjoyed every minute with her having been so brutally reminded that her life is so fragile.

September continued our feelings of hope. Audrey turned six! She grown so much and every year we celebrate is a year mito did not win. She was able to start kindergarten which she had been looking forward to. September and October were filled with endless assessments by therapists to fine tune her IEP which is still a work in progress. Audrey's brain works very differently and it's hard to find the best ways to help her learn. It's not that she can't learn or be taught but it's a matter of finding the key that allows her brain to understand. This still is, and will likely always be, something we are struggling with.

This brings us up to today. Audrey's last unplanned admission was in April. She's had two planned stays, one in June and one in September, that were one night each. She continues on her immunoglobin and has done amazing! She is off all extra oxygen during the day and her lungs are pretty much back to where they were before her ARDS. Her blood pressure continues to be an issue. She is on crazy regimen now that changes how we manage her every night. There are three different medications we rotate around to be given at bedtime. Giving any one of the medications too frequently allows her body to become accustomed and efficacy is lost. We continue to battle her sleepy gut which still does not want any food in it. We are trying to preserve her liver and so have taken her off TPN for four hours a day. This has been wonderful for her and she loves running around during "free time." To say that life is easy or she is easily managed would be a great lie. However, in the face of all that happened this year, I would gladly spend every night awake keeping her autonomic system active, just to see her sweet smile every morning. This next month has us facing yet another new problem. Audrey has narrowing in her great vessels in her chest that are going to require intervention. This intervention is very scary and highly specialized as it is placing stents inside her little six-year-old veins to open them up. I have faith in her medical team that they will do their very best to ensure she pulls through safely. I also know just how strong she is and she will continue fighting with every cell in her body. So long as she is up for the fight I will be right along beside her, holding her hand.

The end of the year

It's the end of 2014....good riddance! While I can't complain about everything that happened this year. It certainly was another year we lost more than we gained. Let's recap some high points....

Audrey had only 4 hospital stays all year!!! This is huge! Her stay in February was the whole month, and was the scariest time we've ever had with her, but she has come a long way since then.

Audrey started ballet. This is a dream of hers, and we are doing everything in our power to make it happen for her. It is so hard to get her there. I have to give her extra fluid before hand (think about doing exercise for an hour but unable to drink anything) and then fluid after. She has to get extra steroids during class or she can't physically make it through class. She usually has very long nights after class with low blood pressure and low oxygen, however, she's never happier than when she is dancing. So because of that, I will continue taking her. You may ask why? It seems to take so much from her to go, why put her body through that? Because everyday, little by little, cell by cell she is losing her battle with mitochondrial disease. I hope and pray that we can slow it down, that someone will find something to stop the damage being done. But her reality as of today is that there will come a day when all of the interventions I can possibly do will not be enough for her to dance. Until that day comes, I will do everything in my power to encourage her dreams. She twirls around the house telling me, "I have to make my body stronger so I can dance on my toes!" This is not her acknowledging her limitations, this is her repeating what Angelina ballerina said when she wanted to dance on pointe, but Audrey has no idea how right she is.

Audrey does not recognize her limitations which is a blessing and a curse. She doesn't let mito hold her back. She charges ahead with all the determination of any other 5 year old with a goal in mind. She does not stop when she's tired. She does not recognize her muscles starting to ache or her tummy starting to hurt...until the pain is more than she can ignore. And then she crashes. We have nights like tonight, when she had so much fun playing with her brother who was gone all weekend, she didn't notice how tired she was getting. SO when I said it's time for a tub, and she had to stop for a minute, she literally lost control of her body. She screamed for over an hour, she was in horrible pain, her blood pressure was low, her glucose was low, the sound of running water was deafening to her, she kicked and she screamed and she could not stop herself. While some might think it was just an epic tantrum (and I don't doubt it started that way) it certainly did not end that way. It was simply the price she paid for having too much fun today. Tonight I will pay the price as I work to keep her vital signs stable because she played with her brother today.

However, back to our recap. Audrey had a great summer! She did ballet, she swam in the pool, her Nana came out to visit, she did not go to the hospital. In fact she had very few doctors appointments. This summer was the best we've had since she got sick. Thankfully since Audrey started using her insulin pump filled with hydrocortisone to manage her adrenal insufficiency in July, things have gone so much smoother for her. We are so grateful to her endocrinologist who was willing to take a chance and try something different. Audrey ended the summer celebrating her 5th birthday at Disneyland with her best friend. She did the royal princess makeover and easily had one of the best days of her life.

Behind the scenes, this year has been rough. While Audrey's medical needs have continued to increase, the ability to find anyone to help care for her decreased. I know I have mentioned before how her complexity prevented finding a home nurse to care for her while I went to work. This only continued this summer until finally in November we were forced to relocate to a more affordable location. We are now 2 hours away from our old home, learning a new way of life. It's a rural community and we have a lot of land. I hope that the kids and I get to learn new skills to make ourselves more self sufficient. I have already greatly expanded my power tool collection and have learned new tasks such as laying laminate floor, installing baseboards and using a jigsaw. There is so much more to learn it is a little overwhelming. As most homeowners find, there is an ever growing list of projects, however, add in Audrey's schedule, it is very difficult to get through projects which should be fairly quick. Audrey's life has not changed much, as so much of her day revolves around a complex schedule of care which is the same no matter where we live. Audrey's brother however, has had a harder time. He has left the school he spent the past 6 years at. He left his friends and is 2 hours from his father and grandparents. I hope and pray every night that this was the right move for him too. His needs are frequently behind Audrey's needs due to a matter of necessity, but I want more than anything for him to grow up happy and not feel like he was neglected for his little sister.

So with moving came a change in jobs. I was forced to leave my place of employment where I have lived, worked and grown for the past 10 years. This was such a difficult choice to make, though in the end, there was no choice at all. It really came down to the fact that I cannot work and take care of Audrey. I had a couple fellow nurse friends who pitched in to help when they could, but this was not steady or reliable enough to make it possible to continue my employment. So I have become yet another statistic to the world of special needs parenting. First it was my marriage, then it was my home, finally it was my job. All of it lost in order to care and provide for my child. Don't get me wrong, I wouldn't change a single thing. Looking back I would chose my daughter, both my children over everything. Clearly my husband wasn't who I thought he was. My home was replaced with another home where we hope to have even better memories. My job gave me the skills I need to care for my girl. It gave me the connections I needed to get her the best doctors I could to care for her. And while I was so sad to leave, and I miss the adult conversations which are absent now, it turns out I was more attached to my job than it was to me. The fact that after 10 years of employment, I had 3 people wish me well, showed me I had out stayed my welcome.

This is what happens when you enter this world of special needs parenting. You lose friends, jobs, opportunities. It starts slowly with people not wanting to call you because they are afraid they might bother you and you have so much going on. Then they stop inviting you out to things because you can't go and even if you did, your days are so much different than anyone elses, it's hard to find common ground to speak about. Next thing you know, it's been months since you've spoken to your "friends." You get the obligatory Christmas cards and Facebook responses, but you know not a single friend knows what is going on in your life everyday. The fact that your whole life revolves around one little person and their needs, precludes the possibility of maintaining anything but the strongest of friendships. And though your employer may be sympathetic to your absences and short comings, everyone has a business to run and you are not a valuable employee. You quickly learn what it's like to live just outside of the world that everyone else seems to be apart of.

These are the lessons I have learned the hard way. Live life to exhaustion. Follow your dreams until you physically cannot possibly move, and then keep dreaming you will do it someday. Love your children with all of your being. I cannot imagine my life without them, and though they may exasperate me, I will do anything in my power to make them happy. Take a chance, make a move. Hope and pray for the best when things are not certain. If friends are true friends, they will be there, you don't need the rest. Keep fighting. Never give up. These are the thoughts I have as we enter into 2015. Once again I am hoping and praying for a better year. A year of peace. A year of health. A year of life.

I wish everyone happy holidays and a happy New Year.

It's November again

It is way past time to update the blog. Once again life has gotten in the way and time is passing before I can realize it. When I look back to where we were this time last year, I amazed at how much has changed. This time last year Audrey was being readmitted for the second time in a week for her motility testing. We didn't go home after that testing for 3 long weeks because she had test after test, procedure after procedure and finally surgery and recovery. She had so many procedures in radiology she had actually gone over her maximum radiation allotment by the time we went home. After that she had sepsis after sepsis until her big downfall in February. This year has definitely been an improvement in quality of life. Though from the outside looking in, it may seem that she is doing better health wise, it is really that we have become better at managing her at home. I have become a pro at giving multiple fluid boluses, dextrose infusions, IVIG, and an endless list of IV medications, all to keep her out of the hospital. This plan has worked, she has only had 2 hospital stays for the whole year (knock on a whole forest of wood!!) but it has definitely come with it's consequences.

Audrey is just too complicated for home health. This seems to be a concept that is completely foreign to most people. The general public assumes, the doctor orders nursing care, the nurse shows up, life goes on. This couldn't be farther from the truth for us. Audrey qualifies for 24 hour nursing care. She has all the waivers in place to fund it. But despite 18 months of recruitment and meetings and training 2 RN's myself, ultimately no one was qualified to take care of her. There is a huge discrepancy in RN's who work in the hospital and those who do home care. Not to say there are not a few little gems who have been scooped up like the treasures they are, but on the whole a home health RN does not go to work expecting to manage crashing BP's, hypoglycemia, steroid drips and IV med after IV med. This however, is exactly what Audrey needs. This is what we go through night after night, because of course, night time is the hardest time for her. So her nursing company gave up on her. They weren't willing to fund a RN who could actually take care of her so they discharged her from their service and said "Good luck!" I have tried hard to find someone else. I have called every single nursing agency who will service my area and not a single one is able to provide for her. So thanks to a couple of awesome nurses I work with, I have been able to work a few shifts here and there and take a much needed break from my 24 hour, 7 days a week nursing shift at home. I could debate the unfairness of it all, lobby for better paid nurses and more training for the home, after all with the rising costs of health care more and more, sicker patient swill be transferred to their home, but who has time for all of that?? I can barely manage hour to hour day to day.

Maybe some of you wonder why I do I do all this at home? Why don't I just take her in to the hospital and let them manage her? Last year she spent 72 days inpatient. This year, if I had taken her to the hospital everytime her BP was low or her glucose was wacky, she would not have been home at all. There's not a day that goes by that there isn't something wrong with her that she could be in the hospital for. But why would I do that to her? For some reason Audrey was given to me. After all my training and schooling and experience, I got this amazing, special girl, who I am completely qualified to care for at home. And because of my ability to keep her home she has experienced things this year we never thought possible. Audrey was able to dance. She was in a ballet recital! She has made a best friend. She has found a best friend in our puppy. She spent months this summer getting to know her grandma. She went to "the world" (Sea World) and she was dressed as a princess at Disneyland. She has had more QOL shoved into this year than she has in the past 4, that is why I keep her home. That is why I stay up late every night checking BP's, glucoses, and urine dips, emailing and texting doctors, because she would have missed this all if I was not able to do this for her.

Don't mistake me for some sort of angel though. One of the most upsetting sentences that I hear daily is, "I don't know how you do it." I don't either, but if it was your child would you chose not to do it? If you had this perfect healthy baby for 18 months who suddenly got ill and required so much care, would you decide not to give it to them? What would you do instead? Put them in an institution? Let them die? Those are the options I face with Audrey and I don't even see them as choices. So everyday I keep going, keep sacrificing. When I stop and think how much I, we have lost because of mito, I want to scream and cry. My marriage, my career, two homes, more friends then I would think was possible, my whole future. Everything has been erased and now boils down to taking care of the two people who depend on me. You never realize how casual relationships are, how fleeting friendships are, until you are tested with the ugly truth. Suddenly friends don't want to talk when they can only hear how sick you child is and how tired you are and husbands don't want to stick around when they have to hold your hand while hearing your child will be lucky to make it to 18. Even family members disappear. Then you are left as the only person responsible for more than you ever thought possible, completely alone in the world with only a few fellow moms who understand how hard you are trying everyday. The rest of the world moves on and passes you by with an occasional "I don't know how you do it" or "You're doing a good job." This is my reality every single day. So don't assign any virtues to me that don't exist. In the end I am just a mom doing the best I can to give my children the best life I can despite all that has been taken from us.

Mitochondrial disease awareness week

Mitochondrial disease awareness week



It's that time of year again. While Audrey has had much fewer stays in the hospital, the stays she has had have been serious and life threatening. Overall though, the last few months have been better. While I was hoping it was that her mitochondrial disease had finally stabilized, the events of the past couple weeks without her feeding tube and medications, have shown me we have just gotten really good at managing her.



So today is 99 days out of the hospital. It is the start of mitochondrial disease week. With these two facts, we are going to celebrate and hope that the words "mitochondrial disease' will reach more people than ever, someone who will find a treatment for my little girl.

It's been awhile!

Once again crazy life has detained me so it's been awhile since my last update. Many new things and many things remain unchanged. The good news is, Audrey has only been inpatient once since my last blog! She went 90 days to the date! That's the longest she's been out of the hospital since January 2012. This is definitely a trend I hope will continue.

Medically, she's not doing better. We have been able to do more at home to keep her here rather than in the hospital. It's a lot more work for me but so worth it to keep our little family together!Audrey's doctors are, as usual, pushing the envelope of treatment for her. Her amazing genetics doctor is challenging himself to find ways to help her and other patients with her genetic mutations. For the moment we have stalled because we have tried everything, even the "in theory this may help" but I know the science will come up with something soon.

Audrey's endocrinologist has also been hard working. She has thought "outside-the-box" for Audrey and she is now using a insulin pump to deliver continuous hydrocortisone to treat her adrenal insufficiency. We found out through labs that Audrey metabolizes cortisol about twice as fast as most people. This made her management very difficult to control. Since starting her pump though, she has been doing much better! We are so happy to be finding these small things which dramatically improve her quality of life.

And lastly, her GI doctor. He works tirelessly for Audrey (and his other patients) trying to manage her GI system. Unfortunately she has complete failure right now and while we hope to improve this, no one has yet seen any of the children with her mutation improve their GI function. This is a very hard pill for me to swallow. I am hopeful that they will find something to help her but I am realistic enough to know they likely will not. That being said, at least the surgeries she underwent last year have kept her out of the hospital. We had hoped she would be able to tolerate more formula after her ileostomy but that is not the case. What her ileostomy has done, is allow her to stay home and prevent the massive abdominal distention and pain she was living with last year. Last year she was inpatient at least once a month, usually for a bowel clean out and now we are able to avoid that. That alone makes the whole surgery worth it. Like her genetic treatment, we are just about at the end of the line for options for treatment of her go failure at her age. As she gets older additional medications may open up (ones that are approved for adult use only) or we may go the route to try some under compassionate use, though the risks and benefits will have to be carefully weighed. If there is one miracle she needs most, this is it.

Speaking of getting older...guess who is turning 5 soon?!?! I can't believe she is one month from being a 5 year old. Everyday that I see her grow and develop and learn new things is such a miracle because I know how precarious her life is. I have loved seeing her push her self the last few months to do what she really wants to do which is ballet. Last year when she started asking to do ballet, there was no way she would have been well enough or out of the hospital long enough to try. Now she takes a toddler class twice a week and while its hard on her body and takes a lot of medical prep work on my part to get her there, she's so amazingly happy I would move heaven and earth to be sure she gets to go. I can't wait to see all that she will continue to accomplish! Keep it up my girl!

February: The month we lost

The title of this post covers many things. Audrey was admitted on the first of February and discharged on the 22nd. Just 6 days shy of the entire month of February. This admission was so different from any other admission she's had. First she was really sick. While she has been really sick before, this was park the crash cart at her door in the ICU sick. Audrey had never been in the ICU before. She had never required vasopressors or rapid infusions of liters of fluid and blood products just to stabilize her. This was the sickest I have ever seen my baby and I have never been so scared for her. Seeing your chronically ill child this sick makes you confront some difficult facts. First, odds are this is not the last time I will see her go through this same scenario. The nature of her illness prevents her from being able to handle stress and infection like others might. Second, one day, this may become too much for her body to handle. This is the hard part of chronic disease. The hard part of a progressive disease like mitochondrial disease. Things are not likely to get better. This reality made this admission much more difficult for me than others.

Back to the title, Audrey lost major ground in her battle against dysautonomia. While at first we thought her vital sign instability was temporary due to her infection, we soon realized her body was actually unable to control itself enough to come off her vasopressor drips. The problem with dysautonomia is that there is very little to treat it and there is only one doctor in California who will see a pediatric patient with dysautonomia. You can imagine how popular he is and what his wait list looks like. The intensivists and all of Audrey's doctors brainstormed and tried multiple ideas and finally had to consult with outside specialists to figure out how to treat her dysautonomia. So she is on a few different medications which have helped control her vitals signs but she is still very dizzy and needs around the clock medication to control her nausea.

In the midst of her ICU drama, we find out Audrey has a new problem. She can now add adrenal insufficiency to her list of diagnosis. While its possible it has been going on for awhile, she was tested last year so its likely that it was the result of her infection. Thats what happens with mito. Every serious infection or stressor can lead to new symptoms and problems. So, for those that don't know, adrenal glands make cortisol which is an essential fight or flight hormone. Without this your body cannot respond appropriately to any stress whether its a hot day or an ear infection or a car accident, your body needs to be able to respond quickly and Audrey can't do this. Sounds familiar to dysautonomia right? It's been very difficult to tease out which symptoms belong to which diagnosis. Adrenal insufficiency in a child like Audrey is, of course, difficult to treat an manage because her body already doesn't handle stress in the best of circumstances. This will be an ongoing ordeal requiring patience from me and her medical team as we learn how to support her in this process.

So Audrey is home now. She's sicker than she's ever been. Her new baseline is way below where her sickest baseline was. I can only hope she will be able to get back some of the quality of life she had before becoming ill but no one knows if this is a realistic goal. For now we will continue this impossible home schedule with medications every 1-2 hours from 6am to midnight. With vital signs and urine dips and check ins with her doctors.  Everyone is so happy for us to be home but this is definitely the saddest I have ever felt coming home. I feel like we just lost a major battle and I don't know how we will rebuild and continue on. Her health status is so fragile I'm afraid to take my suitcase out of the car because one wrong move will have us speeding back to the emergency room. All I can hope for is some stability to slow this ever progressing, life-stealing disease.

New year, new hope

It's been nearly 7 weeks since Audrey's surgery. She's been in the hospital twice since her initial discharge on the 25th. We've been struggling with urine infections since early October. With her last admission we added Infectious Disease to her medical team to help us get a handle on her. While they initially thought they would be able to make routine recommendations, they quickly understood the complexity that is Audrey. Her main problem is her dysmotility. She has spent the last 2 years on first erythromycin then augmentin trying to make her intestines move. Thrown in there are times she's been on flagyl or neomycin for small intestinal bacteria overgrowth. Then in March when we started cathing her, we added keflex to the mix. We've spent the last 2 years wiping out all the normal good bacteria from her body so we are left with more serious bacteria which is why she gets ill so quickly. Audrey is unable to use probiotics since she has a central line and unfortunately she's just not tolerating enough feeds to get her GI tract to make normal bacteria. There are a couple ideas we will discuss with her GI and urologist this month to see if we can get a different plan. For now we are holding our breath hoping she does not get sick before then.

Energy wise, Audrey is doing amazing!! When she is out of the hospital and feeling good I feel like I have my little girl back. She is feeling so much better. Even though she's not tolerating much feeding wise, she is so much happier and feels so much better, her surgery was definitely a success!! It may seem drastic to some to put her through an ileostomy and still be completely TPN dependent, however, if you could have seen what she was going through everyday you would understand. She had severe abdominal distention as her baseline, she had an enema every single day just to pass gas, she couldn't tolerate a single medication through her j-tube without extreme pain. That was her life everyday. She was tired and in pain. Now she is happy. Her tummy doesn't hurt, her medication list is cut in half and her body finally has energy to play instead of using it all trying to make her intestines work. It truly has been life changing for her.

While we have a long way to go for her,  I am finally feeling hopeful. This journey is so hard. Everytime there is an improvement somewhere, either something else fails or the improvement is short lived. But I have hope for Audrey. We are living the motto "Carpe Diem" right now. We are taking full advantage of her good days and making them amazing days, knowing she will likely need a day or two to recover. We are rejoicing that she is even having good days since it has been months without them. We are hoping to spend less time in the hospital this year. Last year she spent 77 days in the hospital. Fingers crossed it is much lower this year!! Audrey has also been matched with a runner in the Irunformichael program so we are so excited to participate with that. Over all we are looking forward to this new year and all the new chances it will bring.

Best ostomy belt ever!

First time swinging in over a year!

She loves her princesses!

Best big brother ever!

She was deliriously happy (literally)

What keeps her going!

The BIG surgery

After a week of discussion, planning and testing, it was Monday, surgery day. We knew she was an add on for the afternoon which meant she could be called to OR anytime from 12 to 10 at night. The suspense was hard to deal with. Audrey's Opa came to she the stress and worry with me. Audrey was blissfully ignorant of what was going to happen. She had had teaching on Friday where they made a doll with an ostomy and a bladder catheter in the belly button and we told her where everything was going to come out. She seemed indifferent to the teaching but played with the doll all weekend and was able to tell others all about the ostomy and bag. So Finally at 3 it was time to go!! We went to pre-op and spoke to a dizzying number of people. Going over the conditional plan, allergies and mitochondrial requirements with the OR nurse, the pediatric surgeon, the urologist, the anesthesia team and the pain team. Everyone seemed well read on Audrey and I was as comfortable as I could be handing over my daughter. Surgery was supposed to be 2.5-3 hours.

At hour 2.5, I was called and notified she was stable and surgery was progressing fine. At 3.25 they called say urology was done so the surgeon was closing, finishing the ostomy and then she'd be done. Finally after 4 hours of surgery she was done and going to recovery. Both teams of doctors reported a smooth surgery with no complications. Audrey was very sleepy in recovery but since she was inpatient she didn't need to be fully awake. She was responding to questions and asking for only her princess blanket (she refuses to use hospital blankets) so we knew she was ok. The pain team had placed an epidural so her pain seemed well managed which was a huge relief!! We were back to her room by 10. She had a busy night and her vital signs were a little off but she rested well! Let the healing begin!

Back from OR, there's no more room on this tummy!

Post Op Day 1-
The days after surgery are often the most difficult. Swelling peaks at day 3-5 as does pain and discomfort. With mitochondrial disease, the body has to recover from this huge strain placed on it which has depleted any extra energy it may have had. This was complicated by Audrey's primary team of docs not knowing her well. Of all the days for her to have new doctors this was not a good one. So Audrey slept ALOT! Her body was frantically trying to make enough energy. Her heart rate was high, her blood pressure was low. She had a low grade fever and needed her oxygen. She needed extra fluid. Her pain was mostly controlled unless we had to move her but she was very itchy from the epidural. It was a difficult day for her. Some good things happened though. First her new stroller came! Yay! It had been ordered for her 2 months ago so it was much anticipated, and it was pink! Next, after major surgery, patients have to do the dreaded incentive spirometry. This forces big deep breathes to help open the lungs and get rid of anesthetics. This being a Children's hospital this mean...blowing bubbles!! Same action but much more fun! Audrey willing participated and finally her oxygen started going up and temperature went down. Surgically everything was going well. Her
mitrofanoff was draining well. Her ostomy was pink and happy though still sleeping. We did her first
bag change with the ostomy nurse. By the end of the day, we got our first smile!

Very tired mitochondria!

             The new PINK stroller!

Incentive spirometry Children's style!

,

Finally, a smile from my girl!

Post Op Day 2-
Audrey woke up bright and early asking to watch Mickey Mouse! I love my girlie! And surprise, surprise, her ostomy was working!! Yay! Today, everyone is cautiously optimistic that we are finally on the right path. It was decided to start a small amount of pedialyte, give her some blood and we were still trouble shooting the annoying itching. Overall it was a good day. We were able to get her up out of bed into a chair and she was awake most of the day. She tolerated the pedialyte well and an advancing plan was made to get us home. Home!!! After 16 days our discussions finally included home! I was feeling so hopeful!

Happy girl first thing in the morning!

Post Op Day 3-
A day of rest! Audrey finally woke up free of the relentless itching and is still pain free. Since her epidural site looks great the pain team decided to leave it in place and let her have a good day. We had to switch her pedialyte to her jtube from her g because of retching so we did not start formula yet. It was decided her anticipated discharge date will be Monday 11/25, 3 weeks from when she was admitted.

Up in her stroller!

Post Op Day 4-
We are counting the days till we can go home! Audrey woke up again in great spirits and pain and itch free! We were even able to get her to stand on her own to weigh her. The pain team decided to leave her epidural in another day since she's doing so well and the site looks good. Audrey started half strength formula in her jtube! Yay!! Now we have to see what happens with her ileostomy output since it's been high. Urology also came and took out her foley so it's just her mitrofanoff draining urine now.

Post Op Day 5-
It's finally time to remove her epidural. Her dressing is lifting now so it's not safe to leave in. Everyone is nervous but hopeful since it was able to stay in so long she has missed the worst of the post op pain. They started around the clock pain medicine before taking it out so she wouldn't get behind in pain. Her feeds were advanced to full strength!! For the first time in nearly 5 months, Audrey is getting formula!! Her pain ended up being well controlled all day. What a relief! Our biggest problem was getting the ostomy bag to stay on. It's close to the dressing for the mitrofanoff so there isn't a lot of skin to make a good seal. By the 4th bag we both had our break down. She cried that she was scared and so was I. This is one more problem and complication in her life. We are trying so hard to make things better for her, I pray this was the right path.

A big leaky mess!!

Post Op Day 6-
Today we are not changing her feeds. This is what she will go home on and we will plan to advance her very slowly. We are going to start capping her mitrofanoff today and draining every 4 hours. This will be the plan for the next 2 weeks so I hope she does well. Her pain medicine is now PRN and she's tolerating that well. It was a restful day in preparation for a busy week!

She can sit up alone now (to play princesses of course)!!

Post Op Day 7-
Going home today!!

Surgery

I'm terrified. It's 630am but I've been up since 4 and was tossing and turning the hours before that. I'm filled with doubts about the choices that have been made and where we are going with her medical care. With each step we've taken, it's been the one I said I wouldn't do to her. Today will be a life changing day for Audrey and I hope with all of my heart it will be for the better.

So Audrey was supposed to have a cecostomy tube placed last Monday. This tube would have enabled us to flush her colon from the beginning rather than torturing her with enemas to clean her out from the end. However, thanks to the brilliance of her surgeon, a contrast enema showed the valve between her small intestine and large intestine didn't work. I was very disappointed since this really limited our options but I was thankful we found this out ahead of time because it could have meant months of trying to make something work that was never going to work to begin with. After discussions between her team it was decided that an ileostomy would be her best choice. This is where the end of her small intestine is brought to her abdominal wall and the poop drains into a bag. This would bypass her dysfunctional colon completely and hopefully allow her to tolerate feedings. The decision took a few days for me to come to grips with. It was ultimately the surgical fellow who reminded me that this doesn't have to be permanent. This surgery can be reversed. That was a great relief to my mind. I'm terrified of making the wrong decisions, especially ones we can't undo. My only requirement for this surgery is that we also place her mitrofanoff at the same time. A mitrofanoff is where they take her appendix and run it from her bladder to her belly button. Then when it's time to cath her and drain her bladder, we can do it from her belly button. This is much easier for her, not something anybody can see and will allow her to cath herself easily. But this is a major surgery. Both of these procedures are and a mito kid does not handle big procedures. So if we are going to do one to her, we are doing them both so she doesn't have to do this next year.

So after much discussion and planning, today is that day. Sometime this afternoon, my daughter will go to the OR and they will disconnect her small intestine and put it on her tummy and then create an opening in her belly button to her bladder. She will no longer poop from her bottom.. She will no longer need daily enemas and suppositories and buckets of miralax and milk of magnesium, we hope, and pray that this surgery will dramatically change her life so we don't live in the hospital for bowel clean outs and abdominal pain and distension. We will see...

This is Audrey with her ostomy doll. She learned what it's for and why it's there and how to put the bag on. She was also site marked for the location of her ostomy, where it should work best. X marks the spot!

Motility testing

This week had a big note on my calender for the past few months. This week Audrey's motility test was scheduled. We have been waiting for this since the beginning of April. While at that time I was on the fence, it became more and more obvious that this was something we had to have done. I came to the hospital with mixed emotions. First, I was so nervous that the test would be "normal." Not that I won't something to be wrong with her, but her GI motility is anything but normal. In the mito world we are faced with test after test saying "it's not normal but it's not completely abnormal." Second, I worried the results would be awful. What if her motility was so bad nothing worked? What does that mean for her long term? Finally, I worried about how she would handle the procedure. What 4 year old wants rectal probes in place all day long? Would she be able to tolerate the pain? This was before I knew exactly what was entailed in this testing.

So with all this on my mind, Audrey was admitted on Monday for two days of "cleanout." She could not even tolerate this so it was quickly scrapped. She hasn't been fed in 4 months, how much stool could there be? Wednesday she went to the OR to place the motility probes. They pulled out her GJ tube (which we did not anticipate and it was only 2 weeks old!) and fed a catheter into her jejunum. The catheter has the pressure sensors on then every few cms. They run water through the sensors so as the intestines move, the water is moved and the pressure is measured. Then they placed the same type of catheter (only much longer) into her colon all the way through to where the small intestine and large intestine meet (the cecum for those who know). Each catheter has 8 probes so a total of 16 probes were measuring her activity. She came back to her room and was hooked up to the machine by the GI nurse who stayed with her all day. For 4 hours they just monitor her. This is the "fasting" state. What her intestines do when shes not being fed. At hour 4 she was given IV erythromycin which makes the stomach contract. At hour 5 she was supposed to be fed 8 ounces of formula in 30 minutes in her stomach. This was a huge problem since Audrey has not once in her life consumed 8 ounces at one time, hasn't had feeds at all in 4 months and hasn't tolerated feeds in her stomach for the last 18 months. We comprised to see "as much as she could tolerate." This ended up being 4 ounces in 30 minutes. She was very uncomfortable, nauseous and in pain at this point. At hour 6, a bisacodyl enema was given through the colon probe. We suspected this would work well since this was her home regimen. Sure enough with in 30 minutes her intestines moved. Unfortunately she vomited all of the formula we had given her one hour and a half before and then some. Thankfully at this point the test was over. Now I had to anxiously wait till Thursday to get the results back. Here are some pictures:

   This is a picture of the screen reading a very quite tummy.

 This is Audrey being entertained

This is the catheter that is in her stomach and jejunum. The little blue caps are attached to each sensor.

Yesterday the motility doctor and her GI doctor came to speak with me about the results. What they found was on its her intestines did very little moving. As you can see in the graph above. Thankfully her stomach did respond to the IV erythromycin and there were a few contractions made into her small bowel from that. Feeding her did not make her intestines do anything at all. The bisacodyl showed the only the very proximal part of her large intestine has movement. The distal part (the descending colon) had no movement ever. Normally the recommendation is for a distal colectomy but Audrey has mitochondrial disease. This is a progressive disease. Cutting out the piece that doesn't work may help right now but in 6 months or 12 months she may need more out and more out. We just don't know. The next option is to do a c-tube. This is where they place a button in the very begining of her large intestine which does have a little movement and through there we can do the enema flushes. This is not a long term option because we know at some point this will stop working. Our last option is to do an ileostomy. This is where we stop using her colon completely and let her stool out from her small intestine. They also found that her g-tube is located too close to the exit of her stomach. This may be contributing to her pain and may be blocking her stomach. The hope is by relieving the "downstream" obstruction in her colon, her stomach and small intestines will function "normally."

This is very hard news to hear. Though I was expecting her to have poor motility. Being told that she will keep losing what little response she has now is heartbreaking. Having to make these decision is impossible. What if it's the wrong decision? What if it only causes her more pain and suffering? With every step we take with Audrey, I am constantly weighing her quality of life. Right now the has spent 3 of the past 4 weeks in the hospital and the one week she was home her stomach was huge and she was getting around the clock pain medicine. So something needs to happen. The plan is now to move forward with the g-tube relocation and to place the c-tube. I am not ready for the colectomy and I don't think she is ready for the ileostomy. Ultimately we may end up doing one or both, I may end up regretting the c-tube. But this is the least invasive we can be with her at this time and I hope that this will buy us time to come up with a better solution for her. I have no illusions that this will fix anything or make her better. But I hope this will make her more comfortable and keep her out of the hospital for longer periods of time.

Pain

I thought I'd take a minute to post about chronic pain in children. I know, as my coworkers can attest, children feel pain. Babies feel pain. Whether born 2 weeks after their due date or 4 months before, they all can feel pain. How they express it and how they cope with it is what varies. A premature infant may only need to be swaddled to cope, or may need huge doses of pain medicine. The fact is everyone feels pain differently and everyone copes differently. As adults we assume that when you have pain you are laying there, crying, unwilling to do anything until the pain is managed properly. But what if you had pain everyday of your life? Would you still refuse to do anything until you received pain control? Even if you knew, adequate pain control will never be reached?

This is our experience this past week. Audrey has chronic neuropathic pain. I can't tell you what she feels on a daily basis. I can say that before she was on her current medication her stomach hurt so bad she couldn't touch it. For those that don't know, neuropathic pain is just what it sounds like, pain in the nerves. There may or may not be a reason for it,there often is not a cure for it. Patients learn to "live with it" while trying various pain meds, anti inflammatories and experimental medications like anti-depressants. This chronic neuropathic pain is very common in mitochondrial disease and can be severely debilitating. We are lucky for now as Audrey's medication, an antidepressant, keeps her pain at a level tolerable to her. Again I don't know what that level is or if it would be tolerable to me but whatever it is she rarely mentions it. So when Audrey says she's in pain I listen to her. When she says she's in pain and needs to go to the hospital, we go.  She is not laying there screaming in pain. She is not crying or lethargic. She is restless and she says she hurts. That is enough for me. Audrey has learned to live her life with some degree of pain constantly. This means that if she wants to play with her dolls she will even if it hurts her stomach to sit up. Because her stomach ALWAYS hurts. She has learned she can't wait to feel better to play, she may not feel better. Ever. So when the doctors come in to assess her knowing she is receiving two IV pain medications on top of her normal medications and they see her sitting up playing with her toys but still saying her stomach hurts, believe her. She has learned to cope with more in her 4 short years than most of us will in our life. She has figured out away to deal with how bad she feels everyday but still play and develop as she should. I ask her medical staff to ignore their preconceptions of how she "should" behave when in pain and take her words at face value. This is true not only for Audrey but for anyone who suffers from chronic pain.

Mitochondrial Disease Awareness Week

It's now the end of day 5 of mitochondrial disease awareness week. I thought I would update the blog on Audrey. Looking back I saw my last update was in November of last year! There are 3 saved drafts that I never finished or published. Sometimes its so overwhelming, so discouraging to put into words what is going on in your life. Not my life. My daughter's life. This blog, this week is about my 4 year old daughter. I would do anything to change the fact that she has "a week." She has this awful disease which is given one week once a year for people to hear about it. My friends are tired of hearing about it. It's sad. It's depressing. Half of my friends are with me, actively losing pieces of our children everyday. The other half don't want to talk about it, don't want to know. I wish I had that luxury.

SO here goes. This is what's knew with Audrey...

November of last year Audrey had her PICC line in her arm switched to a central line in her chest. Central lines are inherently more risky as they are fed into major veins and go very close to your heart. Any little wisp of infection can quickly escalate to a life or death situation. Despite this risk, these are considered permanent lines. This means they can last as long as needed, indefinitely really. The surgery and placement went fine. She had a lot of bleeding and bruising to the surprise of her surgeon, but aside from that there were not any complications. And she developed an ileus. If you know anything about bowel motility an ileus is a bad thing. The intestines basically freeze. Everytime Audrey is put under general anesthesia, she is at risk for developing an ileus. When she wakes up it can take days or weeks for her intestines to wake up. In this case it was weeks though really she's never been the same since. She went into the hospital on her same 17mls/hr of feeds that she had been on since May, and left with no feeds at all. Since that time we have struggled to get her to tolerate anything.

In December, we had the life or death experience with Audrey that we feared most with her central line. Within 3 hours Audrey went from tired but happy and playing to being unresponsive in the emergency room requiring massive amounts of fluids to stabilize her. Though her blood cultures never confirmed anything, that is an experience that I will never forget. I stood in that emergency room by myself, watching as doctors and nurses surrounded my little 3 year old who wouldn't wake up at all. They had bags of IV fluids hanging in pressure bags and oxygen and the ICU physicians were there to help manage her. It was a few more rough days but after tons and tons of fluid and strong antibiotics, she was finally sent home doing much better.

We had some down time after that. Her fluid that she received everyday was adjusted and she seemed to do ok. Except her feeding. While we occasionally were able to get her back up to her 17mls, it never lasted long. And so, this year has been dominated by feeding intolerance. We've gone from seeing her GI doctor every 3 months to every 2 months and now every month. Audrey's been in the hospital every month except January and June. 10 months out of the last 12 months she has spent in the hospital. As of today, Audrey has been off feeds for 8 weeks. She is completely, 100% reliant on the IV nutrition that she receives through her central line. If anyone knows anything about TPN you know this is not a good situation. Many people see her and think she looks great. She is very tall for her age. She has gained over 30lbs in the last year. This is not a good weight though. She is retaining fluid not only in her face and her tissues but in the lining of her intestines. The TPN is slowly but surely taking its toll on her liver. You see, all of that dextrose and vitamins which go directly in her bloodstream, go directly into her liver to be processed and broken down. Livers aren't made to do this day in and day out. Livers like to make bile to breakdown food in your intestines and then receive the nutrients after they've been processed. To say Audrey's liver is unhappy would be putting it mildly. This is a dangerous game. Liver failure can come quickly and severely. Everyday that Audrey lives without feeding in her intestines is another strike against her liver. This makes feeding Audrey a number one priority.

Along with her GI dysmotility, Audrey has developed a neurogenic bladder. The same nerves to go to the intestines and regulate proper movement there, also go the the bladder to regulate proper retention and drainage. Due to this dysmotility Audrey now requires intermittent catheterization. Every 4 hours we have to help her bladder empty to prevent infections and damage to her kidneys. This was very traumatic for her at the beginning, but like everything else, she has adjusted quickly and realizes it as part of her life. That calm acceptance is almost as hard for me to see as the kicking, screaming fight.

Earlier this year we were finally able to get Audrey's genetic testing completed. Last year she had her muscle biopsy which confirmed her mitochondrial disease. It showed she had NADH cytochrome C reductase deficiency. But it didn't answer why. Why does Audrey have this major defect in her respiratory chain? So we took a saliva sample from Audrey (which was not nearly as easy as it should have been) and the doctors looked at the DNA of her mitochondria and of the nucleus of her cells. In May we learned Audrey has 3 genetic mutations in the nucleus which are causing her mitochondrial disease. The problem is that this testing and these results are so new, that no one really knows what to do with this information. Yes they can tell that these 3 mutations are likely significant to Audrey, but they can't really say what will happen, how to treat it or even how they interact with each other. Only time and more testing and more research will give us these answers. But with these results Audrey's geneticist took a gamble. He read one research study which had some positive results with extreme treatment of one of Audrey's mutations. With that he decided to give it a try on his patients with this mutation. And that is how Audrey has ended up on N-Aceytlcysteine or NAC for short. NAC has been used for many years in different situations. Most well known in medical world for treatment of tylenol overdose and inhaled for cystic fibrosis, in Audrey NAC works as a super antioxidant that helps rid her mitochondria of the free radicals which cause premature cell death. The initial oral trial went well. Audrey had more energy than she'd had in over a year. Soon though it became obvious with NAC on board Audrey's cells worked but NAC has a short half life so as soon as it was wearing off ( about 2 hours) her glucose would plummet and we were hard pressed to be able to get it back up without giving more NAC. The decision was made to put Audrey on IV NAC. She's the first patient, in the world as far as we know, to be sent home on IV NAC for a long term treatment. We don't know what this drug will do to her long term. We don't know if the benefits of stable glucose and increased energy will be worth the risks of whatever maybe happening with the long term use. We hope that long term will preven the inevitable damage and progression that happens in mitochondrial disease. We even hope that it may reverse some of the damage done. The medical books are literally being written each day that my daughter lives. So far so good. We don't have any symptoms that we can attribute to NAC though only time will tell. 

This leads me to Audrey's doctors. Without these amazing people my daughter would not be here today. From her pediatrician who pushed with me when we knew something was wrong with Audrey though none of the tests showed what. Who is there for me, anytime that I need her, day or night, week day or weekend. Who has admitted Audrey to the hospital twice while on vacation. Who listens to me complain and understands when I cry and who makes Audrey happy with her pretty jewelry and gentle but through ways. We love and appreciate Dr. G more than she could ever know.

Audrey's geneticist Dr. B. He has taken a chance with her. He has tried new and novel therapies on a hunch and a few laboratory studies. He is willing to take a chance and think out of the box because he knows mitochondrial disease is round and will never fit in the square box. He knew what was wrong with her before we had the tests to prove it. He knew from day one what we were dealing with and he has tried tirelessly to minimize her symptoms and slow her disease progression.

And finally Dr. B, Audrey's GI doctor. He is the newest member to Audrey's team, only coming on last November, but at this point he is the key player. Dr. B has been working with me, communicating by phone and email and managing her numerous admissions all to try to avoid the damage that is slowly happening. He is working desperately to help save our mito children. He manages Audrey's IV fluids and line and feedings. He works so hard to manage the extreme GI symptoms of a disease that is not in her GI tract. For all of his hard work Audrey's disease is not one of gastroenterology, but one on the cellular level. This means that no matter how hard he tries, he will never be able to fix her system. This does not stop him from trying his hardest to help her body function to the best of it's ability, to minimize the side effects that the treatment is having on her. Dr. B gets to see me at my worst, my most frustrated, my most discouraged. Despite that all, he remains a kind and caring doctor who we have been very lucky to have on Audrey's team.

Audrey has many other doctors including her kind and compassionate pulmonologist who has supported Audrey's lung and oxygen needs when once again she shouldn't have any. She see's cardiology and ENT and orthopedics and the list goes on and is every expanding She has worked with many teams of doctors inpatient who strive to manage and understand this enormous disease in the space of a few days. Who try so hard to grasp what goes on in her body day to day which is not mentioned or described in any medical book. These doctors, together, are keeping Audrey alive and growing and for that I will forever be grateful to them.

So this is where we are with my girl. Nearly a year after my last blog, Audrey is continuing to battle against the progression of her mitochondrial disease. She is fighting for her life everyday. She is supported by a team of amazing doctors who are willing to think outside the box and try novel therapies in hopes of saving Audrey and the many other children like her. I can only hope and pray everyday that one day, one therapy, one medication will be the key, will turn her life around so she can stop fighting and start living.  

This is me trying to collect 1ml of saliva for Audrey's genetic test. Next time we'll just draw blood :)

  

My Video 9/15/13 at OneTrueMedia.com

Here is our mito awareness week video!

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4 years

Tonight I tucked my 3 year old in for bed for the last time. Tomorrow night, when she closes her pretty eyes, she will be 4 years old. For all mothers, seeing their children grow is met with mixed blessings. We are excited to see them learn and develop but sad to lose our baby. This is even more so for a mother of a chronically ill child. Each birthday we celebrate as a success, a battle of will, determination and medical progress which has given her another year of life. But each birthday also reminds me of all that she has lost and the things that can't be done. This year is a perfect example as I planned a party for her for the first time since she was a year old. This year Audrey has looked forward to her birthday unlike all the others. So we bravely set a date which is the big unknown when you live half your life in the hospital. Sure enough we have spent the past week inpatient. While we are out before the day of her party, this admission has left her tired and weak. Our house is a mess from the 3 deliveries of supplies which came during her stay. I am emotionally drained. This is her 6th admission in the past 8 months. The only months she was not inpatient was February and June though both of those months had procedures and appointments in the hospital. So I have rescheduled her birthday party. I hope by next week I can pull everything together, including myslef, and give her the party I have been planning for the past few months.

 Tomorrow, we will be going to Disneyland. Yes I just said she is tired and weak and yes it has been over 90 degrees with probably as much humidity, but this is what she wants and I cannot find it inside me to keep denying her the ability to live like any other 4 year old. So tonight I'm packing. A day spent at disneyland is a big undertaking for her and the weather only complicates it further. She has medications due every 6 hours, some are refridgerated and some are not. She has oxygen tanks to be packed and cooling vests with extra ice packs. Every night at 7pm I change her IV fluid. She has one bag which contains all of her nutrition (TPN) and one bag that has continuous medication, once again one is refridgerated and one is room temperature. Room temperature is not 90 degrees. That means I will need to plan where I am at at 7pm. In all likelyhood we will not still be at Disneyland since that is a very long day, but we cannot be sitting on the 5 freeway in traffic either. I will also need to bring extra IV fluids. Dehydration can happen suddenly and severely in mito kids and Audrey is at high risk right now with her new medication regimen. I have a feeling we will be saying hello to Disney's wonderful first aid staff once again. But all this is worth it. I will gladly do all this and a thousand more tasks to make her happy. To let her have a day that isn't about hospitals and doctors and medications. My birthday present for my sweet girl, is for a year of doing all the things her 4 year old self wants to do. I would like a year where I can schedule doctors appointments around her school and activity schedule instead of the other way around. A year when she thanks me at night for going to Disneyland instead of going to the hospital. A year when she doesn't learn about her body through invasive tests and procedures but through growing and exploring like any other child. I want my daughter to have one year as a normal child as she hasn't had since she was a year old.

Bumps in the road

So November was a busy month for us. Audrey continued to have oozing from her PICC line so her team of doctors decided placing a new, more permenat line would be best for her. Due to her glucose/ fluid issues she had to go into the hospital the day before surgery to stop her feeds. Her surgery was done on November 7th. This was the 8th time she had been under anesthesia this year. Since she's 3 now she's more verbal and knows what she does and more importantly what she does not want. So per op scared her until she got her happy medicine (versed makes her chuckle). Once she woke up in recovery she was not happy! She wouldn't look at or talk to anyone. She was also vey pale and drowsy. She ended up needing another blood transfusion and was eventually sent home on half strength feeds again. We thought we were in the clear now. Then, not even a week later her new line starts bleeding! Not again! After a quick trip to visit the surgeon it's determined the line is fine so it must be Audrey. We are waiting to hear back from her pediatrician about her work up for bleeding problems.

Audrey had her post tonsillectomy sleep study. The good news is she has no more obstruction! Yay! Unfortunately she still had some desats during sleep so she will stay on her 1/4L. She is also still needing her o2 during the day. We can't wait to get rid of oxygen!

This month Audrey added a new GI doctor to her team. We have high hopes we will get her to a better place and off TPN. Since her broviac surgery, Audrey has not yet been able to tolerate full strength formula. while meeting with her new doc we discussed changing out her GJ tube. GJ's are usually good for 3-6 months. Since we don't want her without it, the plan is to change it every 3 months though it's already been 4. So plans were made to change it out which is done in interventional radiology. Low and behold, the very next day her tube broke!! Some girls have all the luck! With some finagling, she was able to get it changed the next day. Unfortunately, anytime we touch her tummy it freezes in terror. So she slept through thanksgiving and black Friday barely tolerating a low rate of pedialyte. Now we are back to her normal rate but still half strength formula. Right now we are very thankful for TPN!

So this is where we are. She is once again sleeping a lot. Most days she is only able to go up the stairs halfway and then struggles to crawl the rest. Today I noticed her leg muscles are getting weaker. She was barely able to lift her leg up for me to put her sock on. Is this disease progression? Is this just a result of excessive sleep and muscle loss? Is it from her decrease in feeding tolerance? I'm not sure what the answer is or what we do for now. For now I'm just loving my girl and her brother, trying to take advantage of her fun and spunky self.

Driving into work today I was listening to a Talor Swift/BOB song. The chorus she sings really caught me: "I wish I was strong enough to lift not one but both of us. Someday I will be strong enough to lift not one but both of us." This is my hope for my girl. Some day Miss
Audrey, we will beat this awful disease!

Here are some pictures of November in a nutshell...grouchy post op, pink sleepy head after blood, new big girl bed, bleeding and bruising, sleep study, g-tube turkey and post thanksgiving laziness

An update

It's been awhile since I've done an update because things have been status quo. Audrey started preschool the day after her birthday. She goes for 2 hours a day 5 days a week. While she's there she gets her PT, OT and speech therapy. She's with 5 other kids who have various delays from muscular dystrophy to speech delay. She also has an RN with her at all times. She loves going to school now! It wears her out, she usually sleeps most of the day after school, but she's learning to interact with other kids and many other things. Her speech has improved dramatically which is great for everyone. We hope she will continue to build up endurance. Out of the last eight weeks she has only been able to go to school for 5 days once. Well, it's good to have goals!

Medically there has not been many changes. She is still on her TPN and still only getting 17mls/hr of feeding. Each time we try going up to 18 her gut completely stops but we keep trying hoping one day it will work. She was seen by surgery today to discuss getting a new, more permanent central line placed. I have been avoiding this as the thought scares me but here we are. Central lines have a higher risk of more serious infections. However, Audrey has had continuous problems with her current line which has lead to a high risk of an infection as it is. So November 6th she'll be admitted with surgery planned on the 7th. She stay overnight after surgery because of her pulmonary stuff and if all goes as planned home on the 8th. Fingers crossed we don't get trapped :)

Aside from the line and feeding stuff things are mostly going well. She is growing and getting stronger all the time. She is sweet and sassy and so full of life that we are great full for all the medical advances letting her thrive with us at home. We hope that this line placement will be the last procedure she will need for a long time. She hasn't been inpatient since July so maybe we are finally on the right track with her! Also her pediatrician brought up she hasn't had any new symptoms from her mitochondrial disease since May so maybe she has reached a plateau with her disease. That being said we are starting cold a flu season and with every cold and sickness she gets she is a risk for disease progression. Needless to say, I am very nervous about how this winter will go.

We are planning on going to Disneyland for Mickey's Halloween this week so pictures to follow. Audrey will be dressed as Rapunzel, surprise surprise ;) I will update after her survey in 2 weeks...

Mitochondrial Disease Awareness week

If you haven't heard already, it is mitochondrial disease awareness week. What does that mean? It's the week where families all over the world talk non-stop about the disease that has affected their lives so much. Have you heard of it? Are you tired of me posting about it? I hope so! How is it possible that so many people have never heard about a disease that takes more children's lives than cancer?? This disease affects 1 in 3000 children by age 10 and yet no one can even tell you what a mitochondria is. Well let me tell you again what we deal with every day...

Mitochondria are the power houses to all the cells of your body. They take the food that you eat and turn it into the energy for your body to use. Try to think back to 9th grade biology when you learned about the Krebs cycle and ATP. There you go, that where the problems start. Imagine a remote control car. When the batteries are fully charged you can zoom it up and down the street over and over. The remote control works well and it's lots of fun. When the battery is almost empty it starts to slow down. It's slow to respond to the remote control until it doesn't work at all. That is mitochondrial disease. The mitochondria power up your cells. Make them zoom around and perform their programmed task. But when they have mitochondrial disease some cells only make half the energy they are supposed to, some don't make any at all. So the body moves slow and is slow to respond to the brain or remote control. Each cell has different amounts of mitochondria. The skin cells have very few, so mitochondrial disease doesn't really affect the skin. The brain cells have thousands of mitochondria so mitochondrial disease REALLY affects the brain. So if you think of the hardest working organs and parts of your body you can see where mito can do the most damage.  Everyone with mitochondrial disease has different symptoms. This is because the number of affected mitochondrial in each cell is unknown. So you can have mito where your cells only make 10% of the energy they are supposed to but it only affects 2% of your cells so you have mild symptoms. Then you can have someone else whose mitochondria make only 40% of the energy they are supposed to but 80% of their cells are affected so they have very severe symptoms. To add more confusion, symptoms can vary everyday. On good days, the mitochondria can function well and the unaffected mitochondria can step it up. Add something like a minor cold or a little over exertion and affected mitochondria can stop working completely and leave only the few unaffected mitochondria to run the show. These can be very bad mito disease. Sometimes you can recover to baseline and sometimes the changes are permanent or at least long lasting. These challenges make diagnosis mitochondrial disease very tricky.

Just in time for mitochondrial disease awareness week we finally got back the type and confirmation of Audrey's disease. This was a mixed blessing. It is a relief to know for sure this is what is wrong with her. We haven't missed some rare disease that we could have been treating. Obviously though, she definitely has a horrible disease which not only cannot be cured but does not even have a treatment. It's a disease that we don't know what will bring to her in the future. She could get better, she could stay the same or she could deteriorate before our eyes and there is nothing that will tell us what will happen or when. We will live in fear of every cold or stress she goes through that maybe this will be the time she has a mito crash she can't recover from.

Audrey's muscle biopsy results show she is affected in complex I. There are 5 complexes in the mitochondrial energy cycle. The defective part of her mitochondria affect 2 parts of the cycle. This enzyme in Audrey functions at 7% of what it should be functioning. What does this mean? We don't know. No one knows how this will affect her or what her outcome will be. In the meantime though she is thriving and that is what we can focus on today.

Audrey is doing better right now, then she has since she was diagnosed. She has good energy and is only sleeping 15 hours a day. Her speech is improving every day and she is making 4-5 word sentences finally. She is slowly getting stronger and is definitely getting bigger. She is silly and happy and playful.These are the things we focus on. Yes, she still needs oxygen and IV nutrition. Yes, she has not been able to tolerate any more formula through her feeding tube. But all of her interventions are helping her grow and become strong again, and for now that is the only treatment we have for her.

Below are some links for mitochondrial disease awareness week. The first is a video made about Audrey's journey the past year. The second is a link to a photographer friend who took beautiful pictures of Audrey. It is awful and amazing to look back and think one year ago we were just starting this journey. Audrey was still eating and drinking food by mouth. She had never had an IV or surgery. She had no scars on her little body. Now, 12 months later, it's been 6 months since she's eaten anything by mouth. She's had several IV's and 2 central lines. She has 4 scars on her beautiful body. Our consolation is that we know what the problem is. Our hope is that we can find a cure for her before its too late. So help us and spread awareness. Tell everyone you know about mitochondrial disease. Ask questions, google, investigate and donate. Our mito warriors need all the help they can get.

One year with mito

Kevin Amick photography