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!

Once again it's been a long time since I wrote. Audrey's just had another bad day with more setbacks as I see them. In one day her feeding therapist said her swallows are becomming more delayed, her speech therapist thinks she has apraxia, her physical therapist thinks her right arm is less coordinated and she was so tired she couldn't even see her occupational therapist.
We are doing another EEG to rule out seizures and pending the visit with neurology to figure out what is going on with her now. On top of everything else the constipation is becoming a huge issue and she's required more and more medications just be able to go to the bathroom. We are all just worried about where this is all heading. In the meantime we're trying to be happy and look forward to Christmas time and remember to be thankful for that good days that we have when she's able to enjoy everything as our happy little two-year-old.

A long month

It's been a whole month since my last blog and of course so much has happened! First of all Audrey was seen by a different geneticist who came up with the same diagnosis. This was relieving, at least we know what's wrong with her, and sad. a part of me secretly hoped he would say, "She does not have this horrible, unpredictable disease, with no cure, take this pill and she will be all better!" Obviously there was only a slim chance this would happen but it was still a hope. So we've moved on. This is her diagnosis and we will continue on in our path of acceptance.

The week after we saw the new doctor was a rough one. She went back to sleeping >22 hours and crying hysterically every evening, partly out of exhaustion and also from low glucose. This was just how she was in July before she was in the hospital. After 2 months of doing better we were scared she was all the sudden doing worse again! Then her lab results came back and her levels were still low so we increased her medications. Within 3 days we had our happy girl back! What an amazing difference, there is no question how much these meds help her.

She continues on doing well with the exception of her latest problem...constipation! I know it sounds crazy but in our house we are all quite focused on whether or not Audrey has "gone." She is on 3 different meds to help her go and occasionally needs a suppository on top of that. We haven't had to do the enema yet but I know it is in her future. Her poor belly gets so hard and round she has to lean back to breathe and she won't eat anything. So that's her biggest problem currently.

Other than that life continues on. Jacob is doing well in school and has his school play next week. He is playing Linus in Charlie Brown's Christmas play so we are looking forward to that. Him and his dad have been trying to do as many boyscout activities as possible though it is challenging because our free time is filled with appointments and therapies for Audrey. My work continues to be busy and crazy as we are attempting to change around roles, procedures and duties to improve efficiency. Change is a good thing! Audrey was finally accepted into the daycare at the hospital which has been mostly good. It's nice to have her there at work with me. It has been a challenge for her because she is only allowed a two hour nap at school so we'll see how she continues to adjust to that.

So that's our update! Today is Audrey's great grandfather's birthday and he is 91. We are all so glad he is still around to see his great grandchildren grow. It is also Veterans day. So Happy Birthday Opa and Happy Veterans day!

Happy Birthday to me!

After having such a good week last week, I had high expectations going into this week. It was my birthday and my husband I had a date planned. Audrey had been doing well so I knew it would be good. During Audrey's feeding therapy last week she choked and aspirated on some juice. The rest of the weekend she was pretty tired and seemed to need her oxygen a little more often. She seemed fine otherwise so I wasn't worried. Sunday was great! We started with a early morning high in T.O. It was beautiful outside and nice to get a little excersise. Then I took some time for myself and got my nails done and a haircut. We had a babysitter for the kids and me and the hubby went out to the Melting Pot! Yay, after over a year we finally made it back! It was a great night and we even avoided talking about the kids while we were out aside from agreeing there was no way we would bring them there!

Tuesday was my birthday. 29 years old now. I'm not really concerned about my age but it does seem odd to think I'm almost in my 30's! Other than that we didn't do much. I worked all day so I didn't get home till 645. We did have pink cupcakes which Audrey really enjoyed :)

I was looking forward to Wednesday. Finally, after 14 months on the waiting list, Audrey is going to start at the daycare at the hospital. Wednesday was my orientation day with her teacher. I was nervous that they would not be able to accommodate her special needs. So after letting her go through the spiel of what they do and how they do it I introduced that she has some feeding problems and is on special thickened fluids. She is also prone to choking during her meals so she needs to be closely supervised while she eats. We strategized ways to be sure she was safe during mealtime. Next I brought up she uses oxygen while she sleeps. This was again discussed and decided it would probably be ok. I left it at that. There's so much more but I felt I had pushed them far enough for one day. I met with the director to discuss these things and she was fine with the oxygen if I could show the teachers how to use it. No problem! Feeling mixed emotions I returned to the office to continue my busy day. I checked my voicemail and Audrey's current daycare had called. It couldn't be anything bad since they didn't call my cellphone or page me. I returned the call and they said she had this episode where she kept falling down. They went over to help her stand and she immediately fell over. When they picked her up her face was really pale and her lips were purple. They put her oxygen on her and she fell asleep. She had been asleep since then...2 hours before. I hung up and burst into tears. Not particularly helpful but unavoidable. Things had been going so well I knew I was beginning to think this was all just a bad dream. By the time I picked her up she seemed ok. I woke her up from her nap and she continued to be very sleepy but nothing obviously wrong.

Thursday her daycare was nervous with her. I was relieved because I knew they would call right away for anything after the day before. We talked about paging me since I'm not always in my office. The day went fine. When I picked her up they said she was a little congested. By the time we got home she had a fever of 100. Ugh, it gets better and better! Loaded her up with her meds and off to bed she went.

Friday her temp was 99. So I was ok with that. She had some congestion and a runny nose but seemed ok otherwise. Now it was time for feeding therapy again! Back to CHLA we went. It was a very long hour with a stubborn 2-year-old who did not want to hear that she could only take 2 sips before we took her cup away and she could only take one bite at a time before we moved her plate away. The session ended with her sitting backwards in her chair refusing to make eye contact or speak to anyone. This was helpful and I'm glad I get to spend $25 every week for this. Next we went to the new daycare to drop off all her enrollment papers. She got to see the building and her new classroom. We took her out to the playground where her class was and she got to play. Then it was time to go. That was unfortunate...at least I know she'll like playing there! I was also relieved because I think she'll be able to play without needing her oxygen which is good since I hadn't discussed this yet with the teachers. Next we went back home. Audrey got to nap and mommy got to figure out where her formula authorization was and wait for her oxygen delivery. After 2 hours on the phone it was obvious she wasn't getting her formula this week. This is all so complicated! I got a call from her regional center coordinator to schedule her therapies to start in the next week or so to overload our Friday's even more! How much longer will I be able to keep doing this? Everyday I spend time on the phone, scheduling appointments or calling insurance companies, ordering supplies, going to appointments and therapies all the while I work full time and have another child and a husband who need my time also. Nearly everyday I think about quiting my job and going back to the NICU. At least there I could work Fri-Sun and not have to worry about daycare and only making appointments on Fridays. I haven't given up yet. I still like my job and Audrey likes daycare where she gets to see other children. I know it may come to that but for now we'll keep pluggin' along and hope for the best!

Be here now

This week definitely did not go as well as I had hoped. It all started Monday when before bed Audrey was complaining on leg pain. I gave her Motrin but since it was before bed I didn't want to give her the whole "pain cocktail" with the caffeine and all. By 130am she was awake crying in pain. Two hours later she was finally back to sleep but 5 am seemed to come very early.

On Tuesday Audrey had her altitude test scheduled. I did not really know what this test would be like or how it was done. Basically I held her on my lap while they put a pulse ox and special nasal cannula on which measured her CO2 levels. She wasn't thrilled with this as she was still tired from her interrupted sleep the night before, however, some crayons and a Hello Kitty color book did the trick in distracting her. They measured her baseline for 20 minutes. Then they put on a face mask and gave a mixture of oxygen and nitrogen mixed to simulate being at 5000ft altitude. This was where the trouble really started. 2 years don't like face masks. Tired, crabby 2-year-olds really don't like anything so she screamed for the next 15 minutes. Stiff, and red, and screaming her head off. Finally after 15 minutes she fell asleep. Then they changed the oxygen mixture again until it simulated 8000ft. Being in the medical field I watched as her oxygen saturation slowly fell, her Co2 levels slowly went up and her respiratory rate stayed the same. After 20 minutes they said we were done and we woke up my screaming, tired two-year-old. In my head I knew what I saw but I had to wait for the doctor to tell us what the results were. The rest of the day Audrey had a headache. She fell asleep by 3pm and didn't wake up until 6am the next day when I got her up for school. This much sleeping was something she hadn't done since she started her mito cocktail but she had a rough couple days so maybe she was just tired.

Wednesday, Audrey did ok. She woke up with muscle pain again and was tired but otherwise ok. I spent the day at work on this "retreat." I was supposed to learn about "being here now" and learning to appreciate people in my life. It was a very long day in which none of my work in the office was completed. On the drive home I was able to reflect on this message and apply it to what was going on. "Being here now" is something I need to focus on for Audrey's sake. I can't worry about what may or may not happen. I need to live in the moment and enjoy what I can. Maybe it was not such a wasted day...

Thursday I met with Audrey's pulmonologist. Since I work with her every Thursday, I luckily did not have to wait until her next appointment in December to get results! As I had known on Tuesday, the results were really abnormal. There seems to be a disconnect between Audrey's brain which says your oxygen is low breathe faster and deeper and her respiratory muscles which also seem weak. Not only did her oxygen go low during the study but her Co2 went up and her respiratory rate never went over 20 (which is a normal rate at rest but not under stress). This means that anytime Audrey is in over 5000ft elevation she needs to be on oxygen around the clock. It also confirms that when she plays a lot she has to wear oxygen because for some reason her body doesn't know "when I run I must breathe faster." I took the news well. I continued my long day and wrapped things up at work. When I got home and I told my husband the results, I broke down. I work in the medical field, I know what this means. If she were to get worse she would lose her drive to breathe at all, even during rest. After realizing my fears out loud I was able to "be here now" and rationalize that for now it's ok. She doesn't mind wearing the oxygen and it doesn't seem to limit how she plays or enjoys life. We don't know what she will face in the future but we have to deal with that when it happens, this reality is certainly not what we would have predicted a year ago.

And now it's Friday. It's 3 am and I'm already awake which is already a bad sign. Audrey begins her feeding therapy today, so even though it's my day off, we have to go back to the hospital to start that. After that we have to run home to catch her oxygen delivery and let her nap and then it's off to the cub scout meeting with Jacob. It's another long busy day but I will keep thinking of the "be here now" motto and hope things get better.

She looks great!

I'm so happy we finally made it through one week without any health setbacks! We're still dealing with the food allergy mess but other than that all is well. When she looks like this I can almost believe this is all just a horrible mistake and my little girl is as perfect on the inside as she is on the outside. This belief doesn't last long as soon enough I have to give her 6 syringes of medicine or put her oxygen on her or massage her muscles which ache but it does give me hope that she could "get better" and won't always have to struggle with this invisible, awful disease.

Yesterday we all went to walk with Jacob's school in the local parade. It was a really nice day and Audrey loved all the balloons, horses, and marching bands. After she took a nap we met up with some cousins and she had a blast playing with them. After all that excitement she was exhausted but we managed to keep her awake until 8 so she could eat something before bed. We found out she LOVES Happy Feet! She is a musical girl for sure and had a lot of fun dancing and singing to all the music. I can't wait until she turns 3 and we can put her in dance classes! It was a great weekend though seeing her laugh and giggle and feeling good.

This week she has an altitude test scheduled on Tuesday. They plan on putting her in this pressurized room and decreasing the oxygen to see how she responds. The normal response would be to increase your respiratory rate to compensate. They think Audrey will not be able to increase her rate enough to compensate. The test is supposed to be safe and is done all the time but of course I am nervous about it. On Friday she starts her feeding therapy. So that's our busy week this week, I'm hoping this "healthy" tend keeps going!

End of the week

Well this week was the best week Audrey's had health wise since June. I have to believe things are starting to stabilize now. Her only new thing is a milk allergy. This is pretty unfortunate as between her food allergies, dysphagia and being 2 year old, I have no idea what to feed her! Somehow it's the worst feeling as a mom to not be able to feed your baby. Her doctor wants to start a special formula which makes me sad. She's never had formula before. I thought we did so well with her as a newborn exclusively breastfeeding and now here she is 2 years old and they want to give her formula. I know it's not the end of the world it just makes me feel like we're going backwards.

Otherwise this week Jacob was sick with the flu. Poor little guy was quarantined to his bedroom for 2 days as we couldn't risk Audrey getting sick. He was a trooper though and really understood why he had to stay in his room. He's a great big brother! Lucky for him he's better in time for the annual Bike Rodeo with his boy scout troop this weekend. Looking forward to this weekend and hoping it will be uneventful...too bad it's going to be so warm, we are definitely ready for the cool fall weather!