Remember last week I said I wasn’t sure if I wanted to know the results of Hannah’s DNA sequencing? I guess “someone” heard me because, according to Dr. Schiffmann, one of the top GD23 neurologist, there is NOTHING in the literature that matches Hannah’s DNA mutation combination. NOT ONE PATIENT! He is going to ask his colleagues for their input as to how they think this will affect her, but for now, we are “inconclusive” on the type of GD she has and what her prognosis is.
The second mutation is common with type 3, one of the most severe types of type 3 (when combined with itself). However, we have learned that when combined with another mutation (such as in Hannah’s case), it can be type 2 or type 3, as it takes on a whole new identity.
So at this point, we don’t know what type she has. We may not know, especially if we are walking in unchartered territory now.
Always knew Hannah was a unique girl…
Oh Carrie… I can’t imagine how frustrated you must be. I can’t believe there isn’t one patient that matches her. Did Dr S say how long it would take to confer with his colleagues and get back to you? I’m so sorry..but maybe no news is good news? Hannah certainly is a wonderful unique little girl. Much love to you guys!
seriously, when you get a diagnosis I will enter you for Mystery Diagnosis if you don’t…amazing! But let’s hope that being “special” turns out for the best…
xoxo
We were waiting almost three months for Koby’s test results to come back from UCSD, so I know what you’re going through. We knew he had Fanconi’s Syndrome, but didn’t know if it was caused from malnutrition (he was vomiting 8-10 times a day for over two months), or from the rare disease called Cystinosis . . . prognosis unknown, no known cure.
The wait is horrible, but somehow, even if it’s bad news, it’s comforting to know exactly what they have so you know where to go from there.
Hang in there,
Angela
Sounds like you aren’t going to catch a break…
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Wow… we are still praying for you daily. Hopefully you will have some good clear answers soon. You’re in our thoughts tonight.
Blessings!!
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We’re keeping Hanna and her wonderful family in our thoughts. Let us know if there’s ever anything I can do.
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You said that right: You always knew she was unique. Maybe not knowing is for the best right now, but I can only imagine that this must be so hard and disappointing.
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Just lots of hugs and prayer. I pray that this uniqueness is a positive thing.
I’m sorry that the results didn’t give you answers. Hang in there!!
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Wow! Hannah is very, very special. We can only pray that her uniqueness will lead to good things as far as clinical trials and treatment.