Thursday, April 21, 2011

Day 2: Houston

I just learned that another one of our beloved mito kids passed away yesterday. Emma Grace was an absolutely precious child who has really struggled the past year with the effects of this disease. Her mother's blog was one of the first I read when our neurologist mentioned mito to us when Nate was 4 months old, so I have been following this dear family online for some time now. We have lost so many children in our mito community this year. It always hurts so deeply to fathom their parents' pain. Please pray for this sweet family.

Day 2 in Houston was devoted to time with Nathan's mitochondrial specialist, whom we utterly adore. The clinic is comprised of some of the most brilliant and caring doctors and staff, and we love them all so very dearly. Honestly, if anyone is looking to see a doc specializing in mito, I totally recommend the UT mito clinic in Houston. Feel free to contact me for info. This now concludes your public service announcement.
So, back to the appt...

Our mito doc came in and played with Nate for a bit. When we arrived to Houston, Nathan and I visited the wonderful world of IKEA for a few minutes, where he picked out a stuffed spider puppet thingamajigger...which he loved putting on his hand and scaring people. But our beloved doctor took matters into her own hands and used it to scare is always so sweet to see her interacting with the kids.
When she finished playing with Nate, she told the residents with her that it was always amazing to see how well he looked on the outside (despite being extremely small for his age) but know how much was going on inside his body. She then told me that she was a bit worried about Nate because every time we come to see them, he has new issues we have to tackle. Its a bit sobering to hear a doctor say that they are concerned about your child, but at the same time, it is also so very comforting knowing that she has so much understanding of this disease and how it affects Nathan. She essentially knows the concerns before we have to bring them up. Have I mentioned how much I wuv her?She said that it concerns her that his muscle biopsy shows a global deficiency across the board in the complexes. Sure, he has a defect in Complex I, which diagnosed him with mito in the first place, but all of his complexes are quite low. That info coupled with the knowledge that he has had numerous bodily systems involved and is still having new symptoms crop up every few months of his short 3 years so far, it points us to the possibility that he may be suffering from a mitochondrial depletion syndrome...meaning that his mitochondria are essentially depleting.The monkey wrench in all of this is that at the time of his biopsy, his quantitative mtDNA number was 77%, which is a good number. MtDNA depletion syndromes aren't usually diagnosed unless the mtDNA is under 50%. But, since Nate's biopsy was done when he was only 8 months old, there is a possibility that the mitochondria hadn't depleted that much by then but was already showing the global deficiency in his complexes. So, in order to know more about what the next few years may entail for Nate, and to give us an idea on what treatments we will and will not pursue, we need to know if there has been any change in his quantitative mtDNA number, signifying a depletion.This means that Nathan will undergo either a punch muscle biopsy (if a punch will give them enough tissue for this specific test...she has to check on that) or a liver biopsy when we return to Houston in October.
In our other medical convos, she recommended we start lactulose to help with some of his break-through issues with increased ammonia. He is already taking arginine, and lactulose will also help bind and remove the excess ammonia. He will be having an ABR hearing test done at our home hospital since he failed his last vibration hearing test in his left ear. I will be really surprised if the ABR is abnormal, but it will be good to check anyway.

And finally, due to some recent urination issues, it is possible that he may have the starting symptoms of a neurogenic bladder. Essentially, somedays he will pee 3 or 4 times a day...and then there are days where he will go up to 15 times a day with no change in liquid intake. He will often have accidents on the excessive urination days, and he has been totally trained with no accidents for a full year now. It is so strange and has had us scratching our heads for the past few months. He had a diabetes workup that was perfectly fine, so we just chalked it all up to Nate being Nate. I had never even thought that it could be a neurogenic bladder, even though that is something that is sometimes seen in mito. Since this is more annoying than causing problems at this time, we are just going to watch it for the time being.So, it was another difficult day of info on this day. Even though I had known from our last visit that our mito doc was hinting around that he could have mito depletion, it really threw me for a loop when she was more serious about it this time and suggested a liver or punch muscle biopsy. It took me a little bit to regain my thoughts, and I do agree with her that we do indeed need to know a bit more of what to expect the next few years. I have always found that the unspoken words between doctors and families are some of the toughest. We don't always ask the questions that we want to ask because we know that our doctors are not equipped to answer them...and doctors don't always say what is on their minds because they do not want to add additional worry to parents. Its an awkward dance that evolves and has everyone wondering if they truly understand what is happening.But what I do find comfort in is that we serve a God who is omniscient. He formed Nathan into the whole child that he is today. He is perfectly knowledgeable about all of the intricate details inside his little body, and he knows what the immediate and extended future holds for our sweet son. And I trust our God because he is holy and perfectly in control.


Kim Gray said...

My prayers are with you & your family Amber! Thanks for keeping us up to date. Mito attacks individuals in so many different ways that is seem almost unreal when the MDs go into depth. Just know that you are NOT alone! We are all here with you!

Clara-Leigh on April 23, 2011 at 11:51 PM said...

You really threw me for a loop tonight! I was reading your blog, fully focused and feeling myself there with you hearing the conversation...remembering my own experiences with our favorite doc (LOVE HER!!!!), and then doggone, you would have one of theose photos with Nate in it and I was then giggling in delight seeing that precious boy. He MELTS ME!!!! I would give him all my chocolate, carry him to the top of Everest, share my electric blankey...ANYTHING HE ASKS!!!! He is so stinkin' cute!!!!
I digressed, but seriously, I was going from operating room serious to laughing out loud through tears when I would see his wittle face!!!!!
Tons of love and prayers coming your way.
You know, Garrett has a depletion syndrome, but Dr. K hasn't found the gene. So we wait, and I wonder if or when she will want Garrett to have another biopsy. Addie is having one in August. Garrett's mtDNA at age 4 yr. 8 mos., was 53%, so with that and his occasionally very high lactic acid, sometimes high pyruvate, weird organic acids and respiratory chain numbers, she drew the depeltion sydrome dx. You are a pro, so if you come across any good info, please share!!!!
Thoughts, prayers and GO GATORS!!!

Kyla on April 25, 2011 at 9:42 AM said...

He is such a cutie!!

Glad the doctor is being proactive and staying on top of things. Hope you get answers from the upcoming tests.

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