WARNING: the foods we cook for Abby are safe for her, but not necessarily for everyone. Please confirm any ingredients are safe for you before using in your diet. Food Allergies can kill and the best policy is complete avoidance. Read this post for more info.

Friday, March 2, 2012

Different types of Depletion Syndromes

If you go on the web and read the easy to find information about Depletions you are probably only going to find the information that suggests a very bleak outcome. 1 type involves the liver and those children do the worst, they rarely make it through their toddler years. Most folks don't understand that there are different outcomes depending on the type of Depletion you have. So far they have not found a nDNA for Abby. So she has her very own version, which makes it a bit harder(not like you can forecast for any of the Mito variables-so individual) to forecast any prognosis, but based on how well she has done her prognosis is among the best for all types of Depletions.

But, if you dig a little deeper you will find that there a lot of different types of Depletion Syndromes.

This LINK is my all time favorite summary of the different MDS.

This list doesn't include Depletions caused by HIV or Medications. Those Depletions tend to occur in adulthood, but over the last couple years they are discovering more types of Depletions that don't present until adulthood beyond those caused by medication or HIV.

So what does this mean? It means that if your child has a Depletion found on biopsy, it doesn't necessarily mean their outcome will be any worse then any other type of Mito. Clearly,the literature indicates in most cases their lifespan is shorter, but some depletion patients live longer then those with cystic fibrosis.

For us we have translated Abby's depletion into- she just doesn't have enough gas- her gas tank is 1/3 the size of everyone else's. We are aggressive about trying to NEVER drain her tank. The Mitochondria that Abby has, are very healthy. We are trying to make an effort to keep them that way. We are trying to eliminate environmental pollutants, we do everything we can to protect her energy level, we stay away from sick people, we make sure she rests the second she feels any "fatigue". We are not the most social people to begin with, so staying home where she can rest,hydrate, and stay protected from illnesses has worked out well. I take that back, we are kind of social people, but have figured out how to get those needs met in smaller doses.

Since Abby was born, I have refused to push her(at the same level as "normal" kids). Years before I even knew what Mito was, Abby's body when pushed would misfire- we found Public School lead to back to back illnesses, playgrounds lead to illnesses, but if we did these things in moderation(she did get the opportunity to crawl tubes and balls despite my germ phobia just a couple times in her life though)we also knew she would need extra time to rest. I knew certain foods made her feel good(sugar when sick, no guilt)and some made her feel bad and we listened to her body. We found that traveling was terribly hard on her, being away from her bed was hard on her, so we gave that up except every couple years. Sleepovers often lead to being over tired, then illness, so we only allowed a playdate or sleepover when I knew she had a week to hang in her PJ's and recover with snacks and naps. Of course since no one knew Abby had Mito they thought I was just a hard core helicopter Mom- :-) I cannot tell you how many times I was scolded for not "pushing" her by Dr.s,friends and family a like. They felt all the issues Abby had that were getting worse were due to de-conditioning- so my fault. But my Mom gut screamed a warning every time we pushed.

A couple years ago we decided to let her try High School- since no Dr. had figured out what was wrong with her at this point, their advice was push her and she will get better. She pushed, I have never seen someone fall asleep while standing, but she would. She was sick the entire year. On average she made it 2 days a week. The school had zero tolerance and felt like the Drs. that we just babied her and the VP would announce Abby's name over the intercom to come to his office where he would threaten her with criminal court for truancy. Beyond exhausted. Despite this she was in all advance classes and maintained a 4.0. By the end of year her kidneys broke. Looking back, I know in my heart that her kidneys became symptomatic because we were idiots and listened to the Drs and against my gut let her push beyond her 1/3 gas tank- NEVER AGAIN.

So call me over protective, or a hermit, and I will agree with you, but we do it because I know in my heart that this lifestyle has kept Abby free of a tube,lung complications, and even though she has the wheelchair she doesn't need it at home. We met the emotional/social needs best we can, and sometimes we feel a little lonely, but rather have her in optimal health with the potential to live till she is 40 then bath ourselves in germs daily and potentially watch more complications appear at triple speed. . :-) We still hope next year she can attend college 1 day a week- some germ exposure, a bit of fatigue, but plenty of time tucked away the rest of the week safe resting her mitochondria.

If you clink on the LINK and click on the "myopathy" type depletion you will see this description "
Mitochondrial DNA depletion syndrome-2 is an autosomal recessive disorder characterized primarily by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle. There is wide clinical variability; some patients have onset in infancy and show a rapidly progressive course with early death due to respiratory failure, whereas others have later onset of a slowly progressive myopathy (Oskoui et al., 2006)."
We hang on to the "slowly progressive myopathy". Of course this type is based on the TK2 nDNA mutation which Abby doesn't have, but it is the best fit so far.

I will always remember at around 8 months when Abby was struggling to hold her head up,we had a discussion with her Ped. Her Ped told me that it was my fault that Abby was delayed. She said, " Mrs. Neuman, you spoil her. If you did not pick her up every time she fussed she would be normal like everyone else's baby." Looking back I suppose that was day I decided Drs. could be wrong. Throughout out Abby's childhood no matter what Drs. we saw, most were very much like that first Ped.

We follow our gut around here. My gut says that if I keep listening to Abby's body she has a long life ahead of her. So far that has worked well for us. For the first 15 years the vast majority of the hundreds of Drs. we saw were WRONG, and my gut was right(I do like statistics and they are in my favor!). When I see the signs that her little gas tank is full, we make the most of it, movies, shopping, friends- but when that gas tank is empty, we stop- we stop everything we can.

You know your child best- follow your gut. If your child does better with preschool- sign them up. If your child does better without it, find a way to keep them home. If you hear a child has a depletion it doesn't always mean a tragic short lifespan. We don't know with Abby, we have been nervous this year with the kidneys and GI issues- I suspect the more organs involved the more progressive it will become. But for 14 year she only had the myopathy involvement which we managed ourselves since the Dr.s couldn't. If we kept her so healthy(healthy for a mito patient) without any help during all those years, now that we have found Drs. who "get" Abby and understand our lifestyle has been the healthiest option for her, I bet we can keep her rolling and doing well for many many years to come.

Depletions are just like every other type of Mito and are highly individual. There are still more unanswered questions about Depletions then answered.


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