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

Catching up

I apologize for the long space between postings, life is crazy as usual! So what is new with our journey with mito...

Audrey continues on her PN and lipids through her PICC line 24 hours a day. It has been 4.5 months and she has not made any progress with her feedings. The good news is she is growing well. Her height is up to the 65% and her weight went from the 8% to the 80%!!! So she is on a little TPN diet right now :) She looks great right now so that is what is important. Her feeding intolerance continues to be a source of frustration. She receives 17mls an hour and her goal is 40mls per hour. So she is not quite at half her rate. Any attempt to increase has been met with disaster within a few days, her gut just stops working. She pours out huge amounts of bile from her g-tube and nothing comes out the other end. Oh well, I guess the PN is what she needs right now.

Aside from her nutrition, since I wrote last Audrey has had 2 hospital stays, 3 procedures, 3 x-rays and 2 blood transfusions. Not to mention her countless doctors appointments. Yep, she keeps me busy. This week has been a big week for change for her. She had her last sessions with her therapists from regional center. This was very sad as she's been working with them for a year now. Especially Anne, her physical therapist. They really bonded and she will be greatly missed. Since Audrey turned three, she started with the school district. She goes 5 days a week for 2 hours and they work her PT, OT and speech therapy into those 2 hours and "normal" preschool stuff like A, B, C's. She's gone 2 days so far and loves it! Yay! For all you who remember my blogs about the horror of dropping her off at daycare, I was understandably nervous about how this drop off would go, but so far so good!

So that is pretty much all that is going on right now. There are definitely changes coming up that I will write more about later and Mitochondrial Disease Awareness Week starts September 16th so be prepared to hear alot more about mito!

Big girl is three!

Last day with Anne :(



A lollipop for Audrey



A happy birthday button



She's doing well!

We've been home over a month now and all I can say is she's doing well! People are always asking "how is she?" And as I respond, "She's doing well" I know they are thinking of a healthy almost 3 year old girl with big brown eyes. Unfortunately doing well for Audrey means, she's thriving on IV nutrition given through her arm. She's still not up to even half of her j-tube feeds, her g-tube is continuously draining and she still goes through 18 syringes of medications per day. But she is doing better than she has in almost a year and for that we are thankful and able to enjoy her even more.

We have been fortunate to take some time out for the zoo and a trip to Sea World. Audrey and her brother love animals and little did we know how much Audrey would love Sea World! She asks to go back every single day! We learned somethings on our short trip. First, we cannot get a smaller car. The amount of things she requires just for two nights away, is staggering. Second, the nurses who work in the first aid station at Sea World are great! They were willing to keep her TPN and refrigerated meds for us so we had less to lag around all day. Thrid, we can do this! Yes, she was exhausted and didn't even get out of her stroller once all day. But, her new stroller lays down almost completely flat so she was able to take a 2 hour nap! It was also tricky making sure to keep her pick dry with so much water around, thank you glad press'n'seal!! That, being said it was a great time for us all, and so important to remind us we can do "normal" things with a twist.

I have gone back to my weekend, night shift job which has worked out well. I'm able to be home with Audrey and her brother all week and work during the weekend. It limits our family time some but it is definitely better for the kids right now. Audrey is thriving being at home and not exposed to other kids. She hasn't been sick since the last week of May! This is the first time she has gone a whole month without being ill since November!

With all this goodness going on, we have a big hurdle leaning over us. Audrey needs her tonsils out. Surgery is rough on her and will undoubtably set her back. Right now she is the strongest she's been in awhile so hopefully she will bounce right back. Surgery is already complicated because she needs a blood transfusion before surgery. Her blood count never recovered from her last hospital stay and has started dropping down again. This gives her a high heart rate and she has need her oxygen more in the past few days. She will also need her clotting factors checked since they were low with her last admission and tonsillectomies are notoriously bloody surgeries. So for now the plan is admission the night before for transfusion and lab check and then one night after to monitor oxygen and bleeding. We may also have to tag a g/j tube change on since we've been having some trouble with flushing. Hopefully it will just be the planed 2 day stay and not turn into something longer!

Here are some pictures of the fun we've been having:

 

 

 

 

Adapting

Pheww! We've been home for 2.5 crazy weeks now! Our life has once again changed and we are slowly adapting to a new "day" for our girl. I wish I could say the changes have been easy for us and everything has been smooth but I cannot. Our day is now centered around medications and TPN. We plan trips to the grocery store or other errands around when her g-tube is unclamped or the other parent is home. We are terrified to take her out of the house and expose her to illness. She always gets sick, but now when she has a fever we have to rule out a line infection. Our kitchen counter is sterilized everyday to make TPN. Yes, this as a nurse kills me! I am mixing TPN in my kitchen!! I hate it! I hate that my girl has to walk around with a stroller to carry all of her medical equipment. I hate that she has 3 different tubes coming out of her little body. I hate that she can't go swimming or play in the sprinklers, even a bath is major, stressful undertaking. I especially hate that once a week we have to go through the trauma of dressing change that wipes her out for the rest of the day. That being said, since starting TPN my girl is growing. She has gained weight and gotten taller for the first time since December. She hasn't need oxygen once since coming home. She is still wearing it when she sleeps but she just did her sleep study and I am hopeful we will soon be done with that. She is finally feeling better. Yesterday for the first time in 2 months, she went for a walk outside. She is getting stronger everyday. She is trying to jump again and she is almost running with her little stroller. She is still not able to go up the stairs but I know it is just a matter of time. For all these reasons I love TPN.

Our lives are getting ready to change once again. This is my last week in my current job. Starting June 15th I will once again be a nighttime-weekends only-NICU nurse. I have missed the NICU in the last 18 months. I will miss my current job also. I love working as an NP and my very special patients will always have a place in my heart. I have met amazing co-workers and have learned so much. I am looking forward to going back to NICU. I have missed my fellow nurses though they have continued to provide me with so much emotional support through our journey that I will always be thankful to them. And so we will have to once again adapt to doing things during the week with mom and dad on the weekend. No more days off together, no more weekend activities. But in doing this Audrey will be at home. We don't have to stress her body to go to daycare or be exposed to illness. We don't have to rely on other people to watch her carefully for all the subtle signs she has when things start to go wrong. This is the best decision we could make for our family right now so we will once again adapt and things will work out. Below are some pictures since we've been home...

At the hospital waiting to sign our discharge papers

Yay! After 22 days, we are leaving the hospital!!

The ride home. The excitement was too much for her little body.

After 22 days in the hospital bed, she is super weak and easily exhausted.

Thank you Dylan Gregory Hatch Fund for her giant bear!! (She had wanted this from Costco and I absolutely refused to buy it for her)

She is mobile with her doll stroller!

Yes she came home with parainfluenza 1 and rhinovirus, so it was a  week of nebulizers and and awful cough.

Her good friend Cat now has a matching GJ tube and PICC line

All hooked up for her sleep study, she's so good she didn't touch anything!

22 days

Today is day 22 in the hospital. After much harassing, crying and hoping everything was set for her to be discharged on Monday. We waited patiently (kind of) for the TPN supplies to be delivered and teaching to be done. The expected time moved from 2 to 4 to 8pm. Finally at 6 my husband went home with all of the supplies we already had so our son wouldn't be getting to bed at 11pm. Through out the day Audrey's heart rate had been going up and up. The doctors were too concerned, "she's a little anemic" "mito kids have higher heart rates" "your PMD can follow up outpatient." Not wanting to press the issue too much, we REALLY wanted to go home, I sat and watched her heart rate get higher till it's 160-170 at rest. That can't be right. Finally at 930 pm the supplies come! Yay! But wait, that's not a TPN nurse dropping them off, that's just the delivery guy. So now it's nearly 10 o'clock and people are calling to figure out what's going on. Discharge is not looking likely. Then her nurse turns and looks at me and says, "I've taken her temperature three times, her temp is 39.8." That's 103.6 for you non-metric minded folks. Never mind about discharge, I know enough, children with central lines and high fevers don't get to go home. I knew something wasn't right with her heart rate! Though she didn't have a temp all day this is how Audrey rolls. One minute she is 99 and 10 minutes later she can be 105. She always keeps us on our toes. So our girl earned blood cultures and 48 hours of IV antibiotics until a line infection was ruled out. We also had to go down on her feeding as we watched her belly get bigger and bigger. I don't know why a fever in Audrey equals not gut motility but that's what happens.

Now it's Thursday. Last night she had her last dose of antibiotics, blood culture still negative. Her feeding went back up to her go home rate. The TPN nurse is scheduled for 10 AM this time. We are cautiously optimistic she will make it out the door! Her supplies are delivered, everything at home is ready, now it's just us learning how to do her TPN and then we are good to go. We are terrified but we are ready to go...

2 weeks and counting

2 weeks in the hospital. I know many people stay longer but this is our longest stay yet and I am more than ready to go home. Yesterday was the much anticipated family conference. It happened a day later then planned and was more conference and less family, but finally we got her major doctors in one room at the same time to talk about Audrey's plan. Here is what they came up with:
1. Audrey has a "J-shaped" stomach. Shouldn't impair feeding or be affected by her g-tube. Not the reason why her stomach doesn't work.
2. Her stomach and small intestine definitely have dysmotility. Her stomach doesn't seem to work at all and everything else takes forever to get through the small intestine.
3. On top of her dysmotility she has this altered pain sensitivity. She seems to be lacking (or they aren't working) the nerves which turn off the pain signals. We had suspected this as she is still in extreme discomfort from her g-tube at the insertion site.This is why she has so much pain at a higher rate of feeds.

So given all this Audrey is at 12ml/hr of feeding. She is up to full strength but has too much pain when we go above 12. Her goal rate is 35ml/hr. Our plan now is a new medication to help with the pain. It is odd to give an antidepressant to a 2 year old for pain, but I understand the chemical process and why it may help. The medicine is not without side effects and reading them made me have double and triple thoughts, but ultimately we have to do something for her! We are also going home on TPN with her central line. This was exactly what I wanted to avoid. We have enough trouble keeping her well, now we have a line to worry about infections too. The thought of trying to care for her and still encourage her normal play and growth while hooked up to a feeding pump and IV pump and sometimes oxygen is just too much for me to contemplate. Before she carried everything in her backpack but that was as much weight as she can handle. She definitely can't carry a new backpack with an IV pump and TPN bag. Not sure how we will figure this out. It was presented as a choice but our alternative is to stay in the hospital until she gets to full feeds which they warn me may not happen. So there really is no choice. Before we go home the GI doctors want her on half feeds. So in the next few days we have to get her up another 5ml/hr which may prove to be impossible for her. I guess we will find out.

At least she is feeling better. Her weight is going up and she seems happier. Below are some pictures of her having fun. My fingers, legs and toes are crossed that she tolerates the increased rate and is able to go home soon. Wouldn't it be great if she made it home by mother's day??

She loves her tubie friend Cat! Cat has been very helpful for Audrey when she is scared of all these medical procedures.

Silly girl! Who knew a balloon covered in glitter would be such entertainment.  Needless to say she will have glitter everywhere for days!

Do not leave her unsupervised with a pen! She drew all over her PICC dressing too if you can see it.

The roller coaster that only goes down??

I am frequently reminded that patients with mitochondrial disease are on a roller coaster with several ups and downs. Audrey's roller coaster has only been going down. For a solid year now we have been getting bad news after bad news and she's had more and more interventions with little success. If this is indeed her roller coaster, we should be going up at any moment now, right??

So following her procedures Monday, they started pedialytle through her new j tube. It was started at 15mls per hour, which I thought was ambitious since her normal rate is 35, but what do I know. By Tuesday morning she had 400 mls of bile out her g-tube. Maybe mom does know something. The pedialyte was stopped and she was a happy camper. Tuesday went by well and Tuesday evening we restarted her pedialyte at 10ml/hr. In the morning she had 70mls out. Not too terrible! The resident came and said lets go up to 20ml per hour. Then GI came around and said lets elevate her g-tube. Within 2 hours my girl was screaming in pain and retching. The g-tube was put back to gravity, the pedialyte was turned off, x-ray came around. There was nothing remarkable on her x-ray, her g-tube put out 100mls in the first 3 hours it was down and she was restarted at 10 of pedialyte. It went well overnight.

So now everyone is stumped. Why is she putting out so much from her g-tube? Why isn't she tolerating anything through her j-tube? We were hoping this would be a temporary fix all but once again Audrey has to be unique. Nothing seems to be moving through her and we are at a loss about how to give her meds. If we put them in her g-tube she screams for the hour it's clamped and then the meds come pouring out when we open it. If we put them in her j-tube there is less absorption and she cries from the pain of it about 10 minutes after her meds are given. So this is where we are. 8 days now in the hospital and still losing weight, not tolerating feeds. Her roller coaster needs to go up any second now!

Not feeling good. Sleeping after screaming for an hour.

Poor baby girl!

On the right track

Finally I can rest. Sunday brought the scariest experience I have ever had with Audrey. Just as I was getting to go downstairs for the CureMito event, she woke up crying that her arm hurt. Her IV was out again. The doctors had decided that if she lost her IV they would place the PICC at the bedside with conscious sedation. Everyone was assembled and Audrey thought the hats and masks were kind of funny. The first versed dose makes a drowsy, goofy girl. They give fentanyl and she a little less drowsy and trying to sit up. Three doses of each are given and she is maxed for the amount she can receive on the floor. The doctor says sorry she will have to get her line in IR and everyone leaves. In the meantime Audrey is increasingly restless. She wants me to hold her but when I try to pick her up she starts choking me and pulling my hair. I try to put her down and she grabs on so tight I have bruises. She is shrieking and kicking, something is wrong! The nurse calls the doctor who says she was just disoriented, no way, this is a drug reaction! I hold her in my arms while she screams "Help me!" at the top of her lungs, kicking and thrashing around. We are both crying. I have never been so scared for my girl! Finally after an hour she falls asleep. She ended up sleeping for 12 hours! While that is normal at home, it's impossible in the hospital since they bother you so much. I thought about in January when she had fentanyl in the recovery room after her g-tube was placed. She acted in a similar manner (though not as severe). At the time we thought it was pain but maybe it was the medication! I call a friend who's husband is an anesthesiologist. He says some kids have disinhibition with fentanyl. I quickly google "disinhibiton and fentanyl" extreme irritability, agitation, outbursts, can have hallucinations. That was definitely her! She is scheduled for the morning for her PICC placement and G-J tube and I'm really scared we will go through this again.

Monday morning comes. I am sure to have my husband come because I am not strong enough to go through that again. A mom can only take so much helplessness and I knew I would have to leave the room if that scene played out again. We went down stairs and I made sure she was documented to have a reaction to fentanyl. I spoke with the radiology nurse practitioner, the physician placing the line, his nurse and finally the anesthesiologist. Making sure all of them understood what happened and that she was not to get fentanyl again. Off they took her. I was able to go into to floroscopy with her for the induction. They decided to give her only gas and they would try morphine if she need any pain control. She was such a good girl and so brave with the mask. Very quickly she fell asleep and I left. It's really hard to see your baby go limp and unconscious, even knowing that it is intentional. Though she was scheduled for an hour ant even 40 minutes goes by and our pager goes off. Shes done! We sit with her in recovery and after some initial confusion (they put her pulse ox on her thumb she sucks on!!) she lays quietly in my arms. Though she continues to sleep, at one point she asks for her blanket and then her hair before falling back asleep. This is the best recovery ever!! Her dad and I breath a sigh of relief. I think we have found the reason she has such a hard time with anesthesia and hopefully it is a simple solution.

So now her procedures are done. There is nothing else we need to do to her. She has her new G-J tube and she has a PICC so we don't have to keep poking her for IV's. Now it's time to start feeding her to get her to gain weight! She is on full TPN now that she has her line. Fingers are crossed that she is able to transition to feeds soon and start gaining weight.We are hoping we won't be here too much longer! Here are some pictures of her stay thus far...

this was at admission, not a happy camper!

so skinny!

this is how she spends her days

back from her procedure, doing well

"Cat" her Tubie Friend!

Finally feeling like playing! That is her PICC in her left upper arm and her new G-J is in the same spot as her old g-tube.

So that's where we are. Hoping she is able to get home soon!

Now it's the weekend

Audrey is still in the hospital with no upcoming plans about going home. Yesterday she went down for an upper GI. Many people have these tests, I've had one myself and it is fairly non-invasive. However, my 2 year old is terrified of x-ray. I know this so I asked ahead of time for Child Life to go with us, hoping for better tolerance. She showed up with a basket of distraction tools which made her gurney ride through the hospital lots of fun. However as soon as we got to x-ray the crying and clinging started. The radiologist was very nice and understanding but Audrey doesn't seem to understand "lay still" "keep you legs straight" "no kicking" especially once she gets so worked up. So that took about an hour and then we had a few hours of x-rays in her room which barely went any better.

So, after much miscommunication the fellow finally came in to say she does have delayed gastric emptying, her stomach is shaped funny which may be part of the problem, and she has mild SMA syndrome. Huh? I don't know that one. SMA syndrome or superior mesenteric artery syndrome was described to me as something that happens when you quickly lose weight. the fat pad between the aorta and superior mesenteric artery, which gives blood to your entire gut, is decreased causing compression on the duodenum lead to a bowel obstruction. So the plan was to consult surgery and notify GI to find their recommendations but ultimately she really needs to gain weight. So of course, once the doctor left I hoped onto google. I know it's bad and I always advise my patients to be cautious of what they read but I can't seem to help myself. The first article I read said "this is a very rare but serious and life threatening event with a mortality rate of 1 in 3." What?!?! This seriousness was definitely not relayed to me by the doctor. So I continued my google search and found lots of interesting information, not all of it reassuring, but learned there are varying degrees of seriousness and hers is still mild. That being said it is so important to get her to gain weight to prevent progression.

So here we are on Saturday, and as some people know, nothing happens on the weekend in the hospital. I know my girl has this rare but potentially serious condition on top of her already-difficult-to-treat mitochondrial disease. We can't feed her through the g-tube and they weren't able to do the PICC line so she has an IV in her hand which does not last long. She had 4 IV sticks already and they will continue to add up this weekend. I know eventually they will go to her right hand. They have avoided it so far because she sucks her thumb, but it's bound to happen and she will not be a happy camper. I am obviously still very worried about though maybe I am relieved to find an answer?? At least this new problem has a potential solution where as everything else she has is just hoping and treatment of symptoms. So here's so to at least getting a plan for Monday since nothing will happen on the weekend!

Admission #3

For the third time in 9 months Audrey has been admitted into the hospital. I hope it is just a strange coincidence that she is here every three months and not a sad prediction of our future. This time we are here because she continues to not tolerate her feedings. It has been over 2 weeks since she was on formula. She is losing more weight each day and today she is so weak she cannot even sit up. I am glad that we came in yesterday, I would be much more panicked today at home if I had found her so weak.

I find myself struggling with the inpatient speed. We have been here for almost 24 hours and we've spoken to many different doctors who are going to contact the other doctors we've spoken to to determine a plan. In the meantime the only thing that has happened is she has an IV with fluids running. I know things run differently here and I know nobody has the sense of urgency that I have. It is my little girl laying here too weak to play. I will remind myself to have a little patience, but not too much as someone needs to advocate for her!

Unfairness

I know one of these times I will be able to post how well everything is going. It is probably just that when Audrey is feeling well, I am busy enjoying what she is able to do. When she is not well I need to turn to my blog to spew everything that she is going through.

Audrey continues to get sick every other week or so. While we are waiting to see an immune specialist, we are doing our best to keep her healthy. Since her last illness she has not yet made it back to her regular feeds. As a mom, there is nothing so distressing as not being able to feed your child. If I can't do anything else for her I want to at least be able to feed her. But apparently this is a big, long-standing problem for mito kids. Whenever their little bodies are stressed their GI system just stops. I know it's hard to imagine. She has a feeding tube to her stomach, how hard can it be to feed her? Well I can put the formula in but it will just sit in her stomach until she throws up or I vent her and let it all come back out. It's been almost 2 weeks since she was on full formula feeds. This mommy is getting worried! I'm watching her get more tired and lose more weight, knowing we aren't giving her what she needs to get healthy and beat this vicious cycle she seems to be caught in.

For one afternoon Audrey had fun. It was hot on Saturday and though she wasn't tolerating her feeding she woke up from her nap feeling OK. I let her outside with her brother to play in the sprinklers. Normal, 2 year old fun! She played for an hour and though I knew she was quickly burning through her energy stores, I didn't have the heart to stop her. Finally after an hour I made her come in. She quickly collapsed on the couch and there she stayed until bath time. She was wiped out Sunday and Monday also. How sad is a disease where one hour of play causes 2 days of exhaustion?!? It is so unfair that these children endure so much medical stuff all for one hour of play here and there.

In our quest to keep her healthy, we are looking into alternative care for her. She can't go to daycare any longer. Not only does she become ill if someone even looks at her, she just doesn't have the energy for it. When I picked her up today she was a mess. All of her feeding had backed into her bag, she was crying begging to go home and so exhausted she slumped forward in her carseat to suck her thumb since she couldn't lift it up to her mouth.. I can't watch her go through this. I know I've written about our struggles for services for her but it is so unfair! Every program or waiver I look into I get the same answer..."If she has medi-cal she will qualify." Her pediatrician wrote for home nursing care. The insurance company authorized 400hours per calendar year of nursing care. That works out to one 8 hour shift per week. The nursing company said not to worry, we can just put her on medi-cal and they will cover the rest. The problem is she doesn't qualify for medi-cal! We are doing everything in our power to take care of her and remain working, contributing members to society but the system is working against us. Instead of funding programs that help working families keep working, I'm encouraged to quit my job so my child can get what she needs. Unfair!

And that's where I am right now. It's unfair! It's unfair that my daughter can't eat any food. It's unfair that I am unable to provide her with the services she needs. It's unfair that she has to work so hard for just a little fun. It's unfair that she has to be affected by mitochondrial disease at all! No child should have to go through what she, and thousands of other children like her, go through every day. I know that there are many other children who are sicker than her, who are fighting for their lives or have already lost the battle. But right now, for my daughter, all I can say is it's not fair.

A sick little girl

We are in the midst of her 4th big illness in the past 8 weeks. Each one lasts a little longer and she gets a little sicker with fewer "well" days between bugs. Today we spent 4 hours at the doctors office. We went to be sure she doesn't have pneumonia. It's day 7 of being ill and she's not looking better. Last night her ear started draining so I knew we needed more ear drops for that. In the morining she started vomiting so I hooked up her venting bag. Its much better if that can keep it all contained! By the time we got to the doctor her venting bag had 200 mls of pedialyte and bile! Her rate is only 35ml/hr so this was the whole days worth! Come to think of it, I hadn't changed a diaper all day. Well a couple X-rays, some labs and they think she may have a little bit of an ileus brought on by her nasty cold and ear infections. So after 4 hours of holding her and carting her around my arms are cramping and she is tired and crabby. Now we are home with our fingers crossed that we can stay here! I cringe when the doctor says "oh you're an NP, I'm comfortable sending her home then." I wish doctors would remember that when I'm sitting in the room with my screaming 2 year old I'm a mom way before a medical professional. So now on top of all of her other medications she has eye drops for pink eye, ear drops for an ear infection, antibiotics because the ear infection is really bad, albuterol nebulizer and to top it all off she got mag citrate and an enema to hopefully get her tummy working. I'm crying right along with her :( I really hope and pray she starts feeling better soon!

House of cards

Life with Audrey continues to be a struggle. In the six weeks since we have returned from her surgery she has only been able to go to daycare four days in a row twice. After each of those weeks she ended up missing the next week due to sickness. In fact Audrey has been sick every week since the week of Valentines. What are we going to do?? For the past month we have been working with her pediatrician to brainstorm different ideas to provide care for her. Since I am the major income earner and I carry the benefits, not working is not an option for me. We seem to fall in this middle America gap where we make too much income to qualify for any assistance but we are unable to afford it ourselves. I can only imagine how many other families find themselves in this same predicament. There are so many programs for low income families it is very discouraging that we can't qualify for anything! Don't get me wrong, those families absolutely need the help but so do we! Audrey also falls into this gap with her disability. She is mildly delayed and has some medical needs. She is 2.5 so we are in transition to the school district. They are afraid she may not be delayed enough to get accepted but are concerned with all her medical issues, without any therapies she will quickly fall behind. Regional Center is in the same boat. She does not have epilepsy or MR so while we are going through their evaluations, we don't think she will qualify for that either. It certainly does not look promising.

So now I'm evaluating my job. Though I have to keep working, and I'm terrified of switching employers and risking a change in insurance, she cannot continue to go to daycare. This week she came down with hand-foot-mouth disease. It's such a common daycare illness, that really every child has at sometime or another. With Audrey though she had fevers over 103, required 1L of oxygen continuously and 6 days later is still not better. She's losing weight and is weak and wobbly. When her body is taxed her speech and thought processes really suffer which leads to frustration on all of our parts as we don't understand what she's telling us. The last illness was just a simple URI with the same dramatic response. We have to find a solution that will work for the whole family and be able to keep her healthier. For the time being my husband and I are switching off days staying home with her. He doesn't have sick time at work so everyday off for him is without pay. He is also less comfortable with the medical aspect of her care, though he is becoming more proficient each day. While I have plenty of sick time and am able to do her medical care, I have a job where I have patients with appointments to see me. If I don't go to work, my work continues on and I have to catch up. If I am not there to see my patients I have to get someone else to see them so it's not an easy thing to just call out sick. Add into this whole mix the emotional strain of watching your toddler go through all of this and it's no wonder we are all walking on eggshells waiting for the shoe to drop. I know sometime soon something has got to give as this situation we are in right now will not last long.

What a long month!

Life continues to be so busy! I'm not a great blogger as life seems to get in the way and before I know it 6-8 weeks have gone on since my last entry. So here is a summary of what's going on with us and our sweet girl!

We are adapting to life with a feeding tube. Though I have taken care of babies with g-tubes for years during my time as a NICU nurse and it isn't uncommon for our Cranio kids to need feeding tubes at least temporarily, it's completely different living with one. The day to day cleaning, problem-solving, preparing and planning is just more than you could ever anticipate.Since the tube was placed it has never been comfortable. Whenever it moves or the the tubing moves or any care has to be completed she kicks and screams like she's in terrible pain. At first we thought it was just post surgical pain. Though it isn't usually thought of as being a super painful surgery, every child is different and maybe our girl has a low tolerance level. But as the weeks have gone on the doctors are stumped. We went to the pediatrician and back to the surgeon. The site looks great, there's nothing wrong with the tube, no one knows why it hurts her. Her in-home therapist think it has to do with some sensory input. For some reason she seems to be really bothered by things touching her and maybe this is why she is feeling pain from something that is never more than slightly uncomfortable. Maybe this is true. We've spent months working with her in therapy so that she is able to touch play-d'oh and play with sand. I hope that this is something she will overcome.

Thankfully, we have found some help on facebook! Little did I know about the large world available to parents of special needs children on Facebook. Many enterprising mothers and pediatric nurse have created and sell items that make life easier. We found the site for Belly Buttons and were lucky to be able to order 2 g-tube belts. These are cloth belts worn around the waist over the g-tube site which hold the g-tube secure and keep the tubing in one place. With the belt on the g-tube doesn't spin and the tubing doesn't pull and finally Audrey is comfortable with her tube! This site also sells (as do many others) g-tube pads! What an amazing invention! Instead of piles of spilt gauze and tape, these talented individuals sew little spilt disks of flannel, cotton and absorb able material which stick together with either snaps or Velcro. They come in a variety of patterns and colors including various princesses, pink, hearts etc... Finally with this small thing Audrey has control of one small aspect of her tube, if only which pattern to wear.

Aside from the care of the tube, the use of the tube has been another learning curve. As we have now figured out, when Audrey is tired her little body conserves energy by not processing food. So the days that she is very tired her feeding pump backs up and we have to vent/drain her tube often being surprised as hours of feeds come pouring out. At least now we can see this pattern so when we wake her up in the morning and see how tired she is we know what to expect for the day.

We were able to see the metabolic nutritionist in February. We were relieved to see her weight had improved to where she was before she was sick. We found out that she should be on a low fat diet as her body may have difficulty breaking down fats. So my skinny 2 year old with a feeding tube gets low fat foods, how ironic. We also needed to change her formula to Vivonex from Elecare as it has lower amount of fat but same amount of protein/calories. After more than a month of arguing with the insurance and then the supply company we finally received 5 days worth of formula. So the fight continues as obviously this will not help for long. We are already missing the sweet vanilla smell of Elecare as the smell of Vivonex brings back memories of old preemie puke, as my NICU colleagues will understand.

February brought us the Pasadena Rock-n-Roll half marathon supporting CureMito. It was great to be involved with this program and I was able to raise $400! Unfortunately that was not the $1000 needed to participate in the walk/run but I was OK with that. It was great to see the words "mitochondrial disease" out in the community. I am always amazed at how little known this disease is. My friend made t-shirts for us to wear the day of the raise which featured pictures of her son, who is also affected, and Audrey. We went to the race and supported our friends who were able to participate. We were even interviewed by the local newspaper. Hopefully next year we can participate. I also hope they will create a stroller option so we can have our kids who are so affected out in public to raise more awareness.

The month continued on to have me go back to work! By the time I returned, I really needed the "time off" for my own mental sanity. As bad as it makes me feel for saying so, I find I am unable to be the sole caretaker for my daughter 24 hours a day/7 days a week. With all of the feeding, pulse ox, oxygen, glucose monitoring, temperatures, etc. it's like being a nurse on duty 24/7 and as nurses know, we all get to the point where the money isn't worth one more hour of work. Obviously I'm not getting paid for this, but combine the nursing work with the emotional toll of caring for my girl and I was ready to lose my mind. So February 20th everything was set-up for me to return to work. Yay! The first 2 days went great! I was feeling so much better. Even though I carry a pager and the daycare calls me frequently with questions and she is right on campus with me at work, I was able to have a few hours each day when I didn't have to wonder if her oxygen was ok or if she was tolerating her feeding. While it was never far from my mind, I knew the daycare would call at the first sign of trouble...as they did on the third day.

I knew Wednesday (our 3rd day back) was going to be difficult from the moment I went to wake her up. She was curled in a little ball in her bed and cried when I tried to wake her up. The whole way into work she was slumped over so she didn't have to hold her thumb up to suck and drooling. Yep, big flag, no energy to hold her arm up and oral hypotonia. But I willfully ignored it all. I dropped her off at 8am and they called at 9am the her feeding pump was alarming. Uh-oh :( Sure enough her tummy was full. We shut off her pump for 2 hours and let her lay down in the class and read books (which is all she wanted to do). I ran back to my office to finish the few things I had to get done. By 1130 they were calling again. They had tried turning her pump back on with no success and she was looking very pale. Ok, I admitted failure. I returned to put her O2 on and take her home. Thankfully she was rested enough to be back on Thursday which is my most important day of the week at work. Friday was her therapies at home as usual and she did well. Saturday she woke up with a cough which progressed to a mild fever by the afternoon. Great! After only 3.5 days of daycare she was sick!

This is our first big cold since her mito diagnosis. While thought of metabolic acidosis and dysautonomia swirled in my head, we worked to keep her stable and fight off this cold.  Thank heavens for the g-tube!! We were able to keep the fluids going that she really needed and when she wasn't tolerating the formula we were able to mix polycose to essentially create D10 and run that in her g-tube. Our room was quickly converted to a hospital room with her pulse ox on continuously, the oxygen bubbling away and her feeding hanging on an IV pole. We took turns staying up with her and checking her temperature as she has a bad history of going from 99.5 to 105.7 in less than 10 minutes. Tuesday she was tested for influenza which was negative. She continued on in the precarious fight against the common cold. Finally by Friday she was feeling better! Wow, if this is how every cold is going to go we are in trouble! We hope that this was a particularly virulent cold and that is why it hit her so hard. We also have a new appreciation for the g-tube, as she would have been hospitalized without it.

So hear we are. About to start week 3 of work. She only tolerated 3 day during week one, missed week 2 entirely, who knows what's in store for week 3?!? We've been able to adapt so far to our new normal. My son is learning and now knows what to do if we ask for a flush or to tell us when his sister says her head hurts. It breaks our heart that this is what they both have to deal with, Audrey with all her medical interventions and Jake needing to understand it all, but for some reason this is what we have. This month we have so many things to do. Happily we get to journey to Las Vegas for my little brother's wedding! We are all looking forward to this brief break for the routine. Audrey is going to have to see a few more specialists, a nephrologist for her kidneys because she has too much protein in her urine and frequently wakes up swollen. She will also see an ophthalmologist to screen her eyes. Kids with mito disease frequently have vision problems so we need to be sure this is not the case with her. We also get to follow up with her pulmonologist, orthopedic doctor and she gets to meet with the school district as she is 2.5 and will leave Regional center at 3. Wow! Such a busy month, I sure hope we can keep up with it all!!

A new year

Wow! Who knew so much could happen in one month?!?! Let me summarize. December continued with Audrey having more and more choking episodes once even requiring me to reach in her throat and pull food out. Obviously this terrified us. She was also taking less and less food and liquids. She continued to experience the episodes where her right arm would go limp and generally weaker on the right side.

On December 19th we were able to have another EEG. These tests are not easy as she has to be up for 12 hours before hand and they are scheduled at 1 in the afternoon. But we were able to finish that and see the ENT doctor who confirmed she still had fluid in her ears. Since we were concerned about this affecting her hearing we decided that if she was to have any procedures done under anesthesia we would put tubes in her ears. If not we didn't want to take the risk for her.

On the 20th she had a repeat MBSS. The test was modified by her OT so she didn't take anything dry like chicken or use a sippy cup which is too fast. This disappointed me because this is her "real" life. Anyways the result showed she had a lot of residue in her mouth and required 3 dry swallows after each bite of food. She could also only take small drinks at a time and only sips after she was fatigued. It was recommended she stick to purees in the evenings when she is more fatigued. As I predicted this did not go over well with my independent 2 year old. She protested us trying to pace her to the point of refusing to eat. She continued to take less and less food and liquid until on the 27th the decision to place a g-tube was made.

This decision was not an easy one to come to. My husband and I struggled with it for days. But finally after fighting for 10 days to get her to drink just enough that she wasn't dehydrated and every meal ending in tears on her part as well as mine, we realized we did not really have a choice after all. We planned to start scheduling her tests for her work up as an outpatient.

On January 2 she woke up so wobbly she could barely stand. She had minimal urine and she was requiring her oxygen frequently. We called the doctor and she was admitted for dehydration. Once we arrived at the hospital we realized just how sick she had been at home. She was hypoglycemic and spilling ketones in her urine. This is a sign of her body burning muscle and fat for energy. Her measurements showed failure to thrive with muscle wasting. After a couple days on IV fluids she was feeling and looking great. Aside from the constant IV pokes she was enjoying her hospital stay. This was probably the best she felt in awhile with her constant glucose infusion.

On January 6th she was scheduled for surgery. We anxiously awaited her time in her hospital room. Thankfully Child Life was there to help Audrey as well as us. Finally off to surgery we went. Since we knew anesthesia would be difficult we planned to do everything she could need. She was scheduled for her muscle biopsy to confirm her diagnosis of mitochondrial disease, tubes for her ears and her g-tube. The anesthesiologist told us all the precautions and things they would change due to her diagnosis. Surgery was quick, about an hour and 20 minutes. Both of the doctors came out to tells us things went great and the recovery room would come and get us as soon as she started to wake up. My husband and I sat in the little room waiting and watching other families come and go. We waited and waited...after an hour we were getting nervous. Finally after an hour and a half the bring us back. There is our sweet girl arching off the bed screaming with a hoarse voice. I quickly pick her up and she goes limp and starts desaturating. They have us hold cool mist oxygen in front of her. The doctor tells us she has had some trouble waking up. She required and oral airway for an hour and then her blood pressure was very low so they had to give her some extra volume. They will not give any pain medicine until she wakes up more. So we sit and hold her. The hours pass and my husband has to leave to pick up her brother from school. Finally 4 hours after surgery, shes not quite awake but they decide she can go back to her room. Once we get up there she wakes up and now we have to fight to get her pain under control. She getting very small doses as everyone is afraid of how sleepy she may get. Finally after 6 doses of morphine she is able to get some rest.

The remainder of her hospital stay went very smoothly. She was able to tolerate the feedings however due to her pre op testing showing very delayed gastric emptying the decision was made to keep her on continuous feedings for awhile. Finally all of our ducks were lined up and she came home on January 10th. Now she walks around with her little back pack providing continuous feedings. She is still able to eat by mouth, however, she rarely takes more than a few bites.

On January 11th we finally were able to meet with her geneticist. This was a much anticipated appointment as he has a 2 year waiting list. The doctor spent a lot of time with us going over our whole family and each symptom Audrey experienced. He also confirmed her diagnosis. Though we knew this to be the case, a small part of us still hoped he would say, "No way she has this awful disease. There has been a big mistake." He stated he thought she's having "mini stroke-like' episodes which are what is causing her arm to go limp and the right sided weakness. He said she has a more severe form of dysautonomia which is causing her desaturations. Her nerves just don't seem to know when she needs more oxygen and when she doesn't. Aside from that, he could only say we hope that her disease regresses or is at least stabilized since she is one treatment. She will probably continue to experience more and more GI problems. He also said she will pass this on to any children she might have. I couldn't even respond to this as it is so far away I can't spear any brain cells to consider what this could mean for her future.

And now finally we have a day off. We have a few days to get used to our new reality of a g-tube and continuous feeding and oxygen and all the meds. Our house is beginning to look like a hospital with oxygen tanks, pulse oximeter, IV pole, feeding pump, cases of formula, and boxes of supplies. If this keeps her home with us and allows her to continue to grow and develop then we can live with this. If this lets her be a "normal" happy two year old full of life then this is our reality. This is what we hope for and think of. We try not to think about how much has changed in the last 6 months. We try not to think about how much progression she has experienced in such a short time and all the symptoms that are constantly popping up. Maybe her doctor is right and now that she is being treated things will get better. This is the beginning of the new year and we can only hope that it will be better then how it started!