Thursday, September 19, 2013

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 :)

Wednesday, September 4, 2013

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.