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eye weakness and Leigh's disease

Posted: October 5th 2009

tbailkey

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My son has Leigh's like disease, possible pyruvate dehydrogenase deficiency.  He is 17 months old and has always had issues with his eyes.  Optic atrophy and nystagmus.  When he was younger, we would notice his eyes drifting farther apart (weak) when he was really tired or once in a while.  Recently, his eyes are doing this all of the time.  Is this a sign that the disease is progressing?  Also, does Leigh's disease degenerate the cranial nerves, is this why we are seeing the eye weakness?  If the cranial nerves are getting worse, what else should we expect?  Decrease in smell, appetite, head control, weird facial expressions?  Anyone tell us their experience with the progression of the disease?

Thank you,


Trisha Bailkey

Trisha, my daughter Eva is 5

Submitted by Cristy Balcells on Mon, 10/05/2009 - 12:05pm.

Trisha, my daughter Eva is 5 and has Leighs/Pyruvate dehyrdrogenas compelex deficiency. I wanted to tell you that she is doing well, despite the prognosis that she wouldn't live to be five! I found our daughter went through phases where she did some weird things with her eyes, tongue, etc. but that often they passed after a few months. I do think that fatigue is a direct indicator of those symptoms, as she is always more ataxic, etc. when she is tired. She is currently on Thiamine (400 mg/day) and CoQ10 (250 mg) and these have made a HUGE difference! I also have a friend whose son has PDCD who has been on the ketogenic diet and they find that it has helped their son quite a bit. HTH, Cristy
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Cristy Balcells RN MSN

Executive Director

 

Hi Cristy, Yes that helps,

Submitted by tbailkey on Mon, 10/05/2009 - 12:34pm.

Hi Cristy,

Yes that helps, you are the first person I've talked to who is dealing with a child with pyruvate dehydrogenase deficiency!  My son is on the ketogenic diet and it has been helping him, in fact he is seizure free.  He is also on the cocktail.  His symptoms were very extreme when he was born and we weren't sure he was going to make it and then the ketogenic diet turned everything around and 3 months later we brought him home!  How come your daughter is not on the ketogenic diet?  I was told the basic hypothesis is that the ketones give the body alternative fuel so that lactate is not built up.  I was told that if I do not keep him on the diet, he will probably die soon after.  One of the main issues is that my son won't eat.  He is tube fed, and we still have problems putting weight on him.  We've noticed that his eye tracking is getting worse and they are really drifting all the time now.  So I wondered if since the cranial nerves and brain stem (along with the basal ganglia) are affected with this, is this a progression, those areas are continuing to degenerate?  I have so many questions...sorry....does your daughter have any of the following: underdeveloped corpus callosum, simian crease, flat nasal bridge?  What issues/problems do you have with your daughter's care and when was she diagnosed or first started having problems?  Did you ever put her in daycare?  We were told not to put our child into daycare.  What is the actual prognosis for this disease?  I've been told at the longest 6 or 7 yrs. if they do good, otherwise it is terminal disease, short life expectancy.  What does doing well mean?  Will there ever be a point that our kids don't do well.  Do kids with PDCD live into adulthood?  I totally understand if you don't want to answer any of these questions, but this is our first child, and we're totally lost as parents.  I've talked to a few other mito moms, but none with our kid's diagnosis or symptoms and I know everyone is different, but it is just hard.


Thanks for your help!

Also, might it be possible to connect with your friend whose son is on the ketogenic diet as well?  I'd love to get some tips on feeding issues.


Thanks

 

I have a question. How do

Submitted by arktjk on Mon, 10/05/2009 - 2:39pm.

I have a question. How do you know if your child has PDCD? Does this problem occur in the mitochondria before the respiratory complex happens? Just curious.
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Tina_EvesMum's picture

HI My Daughter Eve has just

Submitted by Tina_EvesMum on Mon, 10/05/2009 - 2:40pm.

HI My Daughter Eve has just been diagnosed with Leighs Disease, not known origin. Eve will be 6 next month. She had detriorated quite dramatically in recent months,becoming much less responsive for a few days before brightening a little but never getting totally back to where she was. One of the most obvious things we have noticed with Eve is the lack of eye control, her lids are much more droopy, (ptosis) and her eye movement is decreased, her Right eye is affected more than her left. We are exp[ecting to go for a follow up MRI in the next 6 months to see if there are any significant changes the lesions on her brain were symetrical and alon the brain stem and basal ganglia too. Not sure if that is any help at all....we are still very new to this and struggling to come to terms with the prognosis. Hugs
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Tina Mum of 5 children Eve has just been given a suspected diagnosis of Mitochondrial Cytopathy.

I do not know what the future holds but I am glad I know who holds the future!

Trish, and Tina- I don't

Submitted by Cristy Balcells on Thu, 10/08/2009 - 1:22pm.

Trish, and Tina- I don't think it's fair to put a life expectancy on these kids. First of all, only the most dramatic (and fatal) cases were described in the literature 10 years ago, and that is not at all indicative of the BIG curve that we see now with kids with Mito in general, including PDCD. My daughter does have lesions on her basal ganglia that worsened when she was young - we have opted not to do a repeat MRI at this time and instead just gauge how she's doing otherwise. The jury is still out on the keto diet - and since Eva never had seizure issues we didn't opt for it. BUT the friend I have whose son is thriving on the diet totally believes in it! It is Paul's son - you can reach him at president@mitoaction.org Also, there is a PDCD yahoo group where all the parents have kids with PDCD (not Leighs necessarily) http://health.groups.yahoo.com/group/PDCD/ As for daycare, no - we are REALLY cautious about exposing her to germs and other sick kids! She does go to school, but it is an amazing school just for special needs kids and there are only 4 children in her class and the teachers are vigilant about purel and bleaching everything everyday. When Eva was little she had a fever that we didn't control well (we didn't know) and it took her months to recover. Fluids are also REALLY important (water, or low sugar)...we also found that she needed to eat/have some calories consistently every couple of hours but that could or could not be related to the PDCD. Who is your doctor? HTH, Cristy
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Cristy Balcells RN MSN

Executive Director

 

Bria07's picture

I too know who holds the

Submitted by Bria07 on Fri, 10/09/2009 - 2:02am.

I too know who holds the future!!! Amen God bless.

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Ida Benavides

Cristy- thanks for your

Submitted by tbailkey on Fri, 10/09/2009 - 11:10am.

Cristy- thanks for your reply. I will check out the yahoo group as well. I think the not knowing what to expect or how to make future decisions is the hardest part. Will my husband or I ever regret any of our decisions? We doctor at Mayo clinic, Dr. Renaud, however she will be leaving the clinic shortly and we will start with a new neurologist. I've been told different things by different doctors....majority are like you, that you can't put a life expectancy on them, and others say because my child experienced such severe symptoms as a newborn, he will have a very short life. I know I can drive myself insanse, I'm really trying not to. I'm adopting the motto "one thing at a time". Nehemiah's legions went away mysteriously on his next MRI when he was a month old. Doctors were very confused and that was without the ketogenic diet. My husband has to go back to work, because we can't make it on one income and Nehemiah is still little and doesn't need personal care yet, so we're trying to decide what to do about his care. Thank you for the FYI on daycare.
Tina_EvesMum's picture

It is all the unknowns that

Submitted by Tina_EvesMum on Fri, 10/09/2009 - 2:07pm.

It is all the unknowns that are so scarey isnt it? I have had conversations with out metabolic nurse this last week that have left me feling totally unable to cope. How fo you come to terms ith being told thre is nothing that can be done to alleviate the symptoms we are seeing in Eve? Thanks for the heads up on the life expectancy Cristy, the 6 yrs bit was haunting me as Eve will be six next month. Hugs
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Tina Mum of 5 children Eve has just been given a suspected diagnosis of Mitochondrial Cytopathy.

I do not know what the future holds but I am glad I know who holds the future!