What does it all mean?

Okay, so it’s taking me a while to get around to actually posting this update.  We saw the neurologist and the geneticist on Wednesday to discuss Leela’s genetic testing results. The doctor said she breathed a sigh of relief when she saw that the mutation was at position 13513 and not at 8993.  Apparently there’s not much they can do for kids with the latter and they don’t survive long at all.  People with Leela’s mutation sometimes don’t even present until later in life.  They have a patient right now with the same mutation as Leela who didn’t present with Leigh’s until she was 4.  I think they said she is 7 now.  This mutation can also present itself even later, and not always as Leigh’s.  It can show up as Parkinson’s or something called MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes). The fact that Leela presented with Leigh’s so early (basically at birth) is not a good sign.  The reason some people present earlier than others has to do with the load of mutated mitochondria.  Say someone has this mutation in 20% of their mitochondria. As we age, our mitochondrial mutations can multiply (especially if we don’t take care of ourselves), so that 20% can become 40%, or whatever.  The more mutated mitochondria, the sicker you become.  In Leela’s case, the skin biopsy showed a 72.6% load of mutated mitochondria.  The doctor said that some tissues have more mitochondria than others, and can carry different loads.  Now that we have a diagnosis they can combine most of her supplements into a single compound, which should make my average day much easier, and Leela’s too.
So, how do we move forward?  Well, since the cause of Leela’s Leigh’s is not Pyruvate Dehydrogenase Deficiency, she is a candidate for EPI-743 (alpha-trocotrienol quinone).  It sounds like she will be in a trial for the next generation, EPI-589 starting sometime in May.  I know that the first trials were double blind placebo trials, so half of the candidates were put on a placebo for the first 6 months of the trial, then all of the candidates were given EPI-743 after that.  I don’t know if that is what they will do this time as well, but I kinda think that will be the case.
Now, it is a fact that sperm do not contain mitochondria.  This means that either Leela inherited this mutation from me, or it was a random mutation.  Boy’s can inherit the gene and become ill, but they cannot pass it down to their children.  Remember I said you can have different loads of mutation?  This means that I, our other children, or even my mother and brother could potentially be carrying the gene, and could become ill at some point.  So, at some point, hopefully soon, I will be tested.  It will be a blood test and be much quicker (and cheaper) than Leela’s testing was because they now know exactly what to look for.  I will also be taking Meadow and Dexter in for a routine well-child check and I will ask to have their lactate levels checked.  So, we hope and pray that this turns out to just be a random mutation.
I had read online about a case in Italy where they cured 6 kids with life threatening genetic diseases by taking the HIV virus, taking out the parts that cause illness, combining it with stem cells from the patient and somehow adding in the information that was missing or corrupted in the patient’s DNA, and giving the modified virus to the patient.  I asked her doctors about this, and they said we are a few years away from being able to use something like that to combat mitochondrial disorders, although the geneticist said there is someone at Mayo experimenting with something similar.  So here’s to hoping and praying that with the help of EPI-743 or EPI-589 and the “mito-cocktail” we will be able to keep her stable until such a cure becomes a reality.

P.S.  Meadow and Dexter are getting over this cough, but now Leela has it, so she could use some extra prayers.  We took her in to Urgent Care and the Dr. said her lungs sound okay but her ears were really red so she gave her Amoxicillin.  She still hasn’t cried since her MRI so it would be hard to tell if her ears were causing her pain.

P.P.S.  I am not a doctor and I SO don’t have time to edit my posts thoroughly, so let’s just say I reserve the right to make minor mistakes in details or use funky terminology.  Just don’t quote me. 😉

For more info on EPI-743:
http://edisonpharma.com/rd/
http://www.ncbi.nlm.nih.gov/pubmed/23010433

 

Milestone….maybe

Leela rolled from her back to her belly for the first time today! Her arm was stuck under her and who knows if it was deliberate but I’ll take it!

Update

Okay, Meadow and Dexter are sick, so they’re banished to their grandparents’ until they are better.  Leela had her first episode of seizures in 5 or 6 weeks yesterday, so I called her neurologist’s office.  Her primary specialist isn’t in until Monday but one of the other neurologist who has seen her wrote her a script for Topamax, to be added to the Sabril.  I asked if this thing that Meadow and Dexter could be responsible for the seizures even though she hasn’t had any other symptoms, and she said it was very possible, so if I wanted to wait another day to see if it happened again before starting her on the Topamax I could.  She also informed me that Leela’s genetic testing results are in.  She does not have a Pyruvate Dehydrogenase Deficiency, although she said a ketogenic diet still may be helpful and is still on the table.  She has a G-to-A mutation at nucleotide position 13513 of the ND5 gene, affecting the electron transport chain complex-1.  I know, that means so much to everyone seeing this, right? I don’t know whether this is good news, bad news, or neither.  Her primary neurologist will call us on Monday after she reviews it and maybe we will know more.  Hopefully she will be able to tell us whether this means she will be eligible for EPI-743 or the next generation.