Rare

So it is with a very heavy heart I write to say the MRI results were not good.

Rich and I received a joint call from the Neurologist yesterday stating that Daphne has Leukodystrophy which is caused from an unknown metabolic/mitochondrial disease (the more serious ones) and the regression that we have seen is a result of brain damage.

What is Leukodystrophy?

Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of at least ten different chemicals. The leukodystrophies are a group of disorders that are caused by genetic defects in how myelin produces or metabolizes these chemicals. Each of the leukodystrophies is the result of a defect in the gene that controls one (and only one) of the chemicals. Specific leukodystrophies include metachromatic leukodystrophy, Krabbé disease, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Childhood Ataxia with Central Nervous System Hypomyelination or CACH (also known as Vanishing White Matter Disease), Alexander disease, Refsum disease, and cerebrotendinous xanthomatosis. The most common symptom of a leukodystrophy disease is a gradual decline in an infant or child who previously appeared well. Progressive loss may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior. There is often a slowdown in mental and physical development. Symptoms vary according to the specific type of leukodystrophy, and may be difficult to recognize in the early stages of the disease.

http://www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm

With that being said, the sense we get from the Metabolic doctor is to focus on finding the cause Mito suspicion. We have been researching and talking to doctors daily. We started Daphne on a supplement of Levo-Carnitine last week and have been trying to track down the other two reccommneded Coenzyme Q10 and Riboflavin. Finally after a week I have found a pharmacy that carries the closest strength to what the doctor wants to put her on.

The most hearthbreaking detail is that there is NO TREATMENT, nothing proven to help, some clinical trials maybe that might help but basically it will only slow the progression of the disease, MAYBE. My heart is abosultely broken thinking of my life without my sweet baby. Thinking of Adelaide losing her sister. I love my girls with all my heart and they are both supposed to be around forever and live a perfectly healthy and happy life and get married and have kids and everything in between.

I am sorry for ignoring most of your texts, calls or facebook messages, this has been a lot to handle and all I want to do is hold my baby, watch my girls together and take pictures and videos of every second so I never forget these moments.

Daphne is a typical baby for the most part, she is sweet and loving. She loves her big sister, loves to laugh at her, bite her, pull her hair and mostly hang out in her room because it’s the coolest, she is the coolest.

Daddy is also super fun, he plays with her all the time and Daphne loves that one on one time as well as laughing at him from across the room.

I may be her favorite, Adelaide is pretty darn close if she isn’t her favorite but for this post I am taking the credit of being her favorite. I need that right now.

I had run so many versions of this post over in my head and this is not at all how I wanted to write it but that’s how things happen right?!

Desiree

4 thoughts on “Rare”

    1. …I believe in miracles…I believe u are my favorite. Desi sending prayers and love for all your tomorrow’s…ms d ❤😔💔💪

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  1. Oh Desi, I am so, so sorry, my heart hurts for you and your beautiful family. I can’t imagine the heartache you have. Please know you have been and will continue to be in our thoughts and prayers. Love you lots♡♡♡

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