Sucla sucks.

I’ll explain more about SUCLA in a sec.

I am still trying to process all that got thrown at me yesterday in the doctor’s office. so this might not make sense completely (because, you know, I think all of my other posts make SO much sense…)

kendalls procedure 002 In two weeks my baby will be one. One whole year. It seems in some ways like such a short time, and yet such a very very long time – all at the same time. She has endured a lifetime’s worth of pokes, prods, sticks, hospital visits and surgeries. she has fought through each illness with a strength I can only hope to possess, and come through each storm with a beautiful smile still on her little face. She is a fighter. She is amazing. She is my baby.

And for eleven and a half months, we have searched hither and yon for someone to figure her out, to put the pieces of her random puzzle of symptoms together and FIX our beautiful baby girl. Keep her out of thegirls summer 09 286 hospital. Help her muscles work right. Make the pain go away. I lost track of how many doctors we have seen, how many medical record numbers she has at various hospital systems throughout two states now. And yesterday, we finally found part of that answer. A large part. A part bigger than I think I wanted.

our baby has a rare metabolic disorder.

Kendall has a disorder called “Methylmalonic Acidemia”, an inborn error of fatty acid oxidation/metabolism. Essentially her body  doesn’t metabolize proteins correctly, so some of the by-products of that process get leftover in her system. Typically, being well nourished helps aid this process via a chemical binding process where vitamins bind to the leftover acids and they all get flushed happily out of the system. So well know that kendall has a large problem staying “nourished”, so that’s issue #1. With this scenario, the treatment would be just to pump her full of Vitamin B12, and hope that that chemical process kicks in and flushes the acid out of her system.

Issue #2 is that in spite of her “malnourishment”, her B12 levels are actually normal. So this process SHOULD be taking place. and it’s not. So now the doctor is stumped.

Issue #3 is that her bloodwork also points toward mitochondrial dysfunction. Mito disease. However you want to say it. It’s not pretty. It’s what i have hoped against hope that she isn’t dealing with.

Issue #3.1 is that the mitochondrial dysfunction that her issues all point towards is something known as mitochondrial depletion. More specifically –

SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria

 

I had to copy that from a google page. I think it hits the limits of even Dr. Terra’s vast knowledge.

And to bring it full circle – SUCLA Sucks. As a friend told me “there’s no sugar coating that diagnosis”. Indeed there is not. I have not linked it above because I am not willing to breathe life into it yet. you are free to conduct your own medical research Google search on it. It’s not exactly sunshine lollipops and rainbows (holla Laura!). the best way to describe it is kind of like this (and I know i am oversimplifying this for those mito friends who check in here, but I am still learning!):

Mito disease is basically like having a copy machine that makes copies with a big black line through it. At some point, that big black line is going to interfere with SOMETHING you’re trying to read. Sometimes its just an annoying line (this would be things like hypotonia, maybe some nasty ear infections, lethargy, things of that nature). Sometimes though, that big black line is going to obscure some VERY IMPORTANT info (this would be things like GI tract shutdown, cardiomyopathy, kidney or liver failure).  Either way, you’re not getting good copies, and that’s never a happy thing. In fact it can be downright lethal.

Mito depletion is kind of like having a copy machine that only makes those bad copies, and will only make 10,000 copies before its done. End of story. It is always downright lethal.

KENDALL DOES NOT HAVE CONFIRMED SUCLA2 DEPLETION SYNDROME.  She just happens to fit a very clinical picture, as well as has testing that points that way. She has been entered into a research study to test for this syndrome, as well as having her cells and bloodwork sent to labs literally across the world to test for this. We are praying, dare i say PLEADING with God that this is not the full answer for Kendall.

The metabolic disorder on its own answers a lot of our questions about Kendall’s prior health history and how she is. It in and of itself will be a hard diagnosis to deal with, and will come with its own set of crazy new circumstances to deal with. It COULD BE deadly for her if she ever gets into a bad metabolic decompensation state.  I don’t want to sugarcoat this one either.  Having “Just” MMA is still going to be life-changing. Yes i would breathe a sigh of relief if it turns out to be “JUST” MMA. But she will still face lifelong challenges. She will never be able to eat a full range of normal foods. She will need her tubey in for a very very long time. She will always be weaker and have less energy than other kids. She will need to wear a MedicAlert bracelet and probably have more IV fluids than she would ever hope for in a lifetime. Little sicknesses like colds or stomach bugs will still likely mean inpatient admissions. BUT – she will survive. We will make it our mission to help her survive, and live life abundantly.

Having MMA with a secondary mitochondrial dysfunction/disease process will complicate things. Even this is not sure or confirmed yet. Her muscle biopsy is {finally} being sent for the testing it should have been sent for in June. This will tell us if her mitochondria are kind of “coming off the line” as defective (and thereby possibly CAUSING this MMA buildup), or if they are being defected by all the acid buildup. Horse and cart type of situation. Which one is which? We don’t know. Again, this is a situation we pray desperately isn’t happening. Secondary mito dysfunction is not as bad as primary mito dysfunction, but along with the metabolic disorder AND the immunodeficiency, well, you fill in the blanks. She’s up poop creek without a paddle. (I “de-roughed” that one just for you mary jane.)

So. thats what we know.

And as i sit and type this out i am clinging to the promises that God gives us in His Living Word – that he has plans for a hope and a future for us, that He knit dear Kendall together in my womb and HE KNOWS what goes on in each and every cell, molecule, strand of DNA, gene, down to the tiniest of organisms, HE. IS. ALWAYS. IN. CONTROL.

Always.

He’s got the whole world in His hands.

He has the doctors and the labs and the bloodwork and the muscle samples and the skin fibroblasts in His hands.

He has little baby Kendall in His hands.

and he will be the one who carries us through.

thank you for your prayers. thank you for joining with us on this journey. thank you for the emails and the comments and the cards and the hugs.

So.

Let’s get ready to CELEBRATE how very far this little has come, and look forward to many many more birthdays.

I know there are so many holes in this post. there’s so much I am working on today – getting nursing care set up, finding a pharmacy that can deliver ridiculous quantities of injectable B12 without mortgaging our house, trying to get info from all of her doctors about their input to her meds/care plan now that we have a diagnosis, and of course therapy therapy therapy!

and now i need some chocolate cake.

 

t-crest out.

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Comments

  1. What an amazing little woman. She is a little person to look up to. Her spirit is testament to her strength. I am glad you are getting closer to an answer and I pray that it is not as complicated to repair as you fear.

  2. Oh Terra. 🙁 I don’t know what to say. You would know…you are amazing. So, what would you say to you? Hugs to you and your family.

  3. As always, Kendall is in our thoughts and prayers. We have been praying for answers, and it seems you are at least making progress in that direction. We will now pray for more definite answers and radical,practical, miraculous solutions. 🙂

  4. Hey Sweetie….You did an excellent job of explaining it. And you know…I love the title. I’ve been doing some research….look into medicaid…that little phrase “inborn error of metabolism” may end up helping out in the $$ scheme of things. I found this link…now it’s nearly a decade old…so who knows if they axed it or what….but give them a ring just in case. http://www.bladderexstrophy.com/files/insurance/IL_2000.pdf

    Found this one too https://secure.childrensmemorial.org/cme/online/article.asp?articleID=194

    Now you know we are praying for Miss Kendall and you just message me anytime you need it.

    ((BIG HUGS))
    Sarah

  5. T – this woman is a friend of ours. She has been going through Mito disease with her daughter for the last few years. She is an AMAZING woman and has tons of information on getting help, etc.

    Please contact her, tell her I’m how you found her, and add her to the list of people to lean on and get help from.

    http://www.miracleformegan.com/

    I’ll be praying for you guys.

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