One piece in a 1,000 piece puzzle.
Today my phone rang, and in Cristy-like fashion, I missed the call.
I check my phone, and my heart sinks.
Dr. Shoffner's office.
Ugh.
His nurse called to tell me that Celia's spinal tap revealed that she has cerebral folate deficiency (CFD).
What we know right now is.....
CFD can be associated with mitochondrial disease, but it doesn't always mean mito.
It can mimic mito/CP etc, so it can cause hypotonia, ataxia among other things that Celia definitely has.
We start a medication tomorrow to get folate to her brain.
The younger the folate is started, the better the outcome.
(Young meaning younger than 6 years old.)
The outcome can be minor- like sleeping better, or chewing better and just overall feeling better.
OR....
It can be MAJOR- like walking, language explosion, self feeding, sitting up.
Yeah.... THAT KINDA MAJOR.
I can't let my mind think MAJOR. I am praying for that, but I'll take her feeling better and be thankful.
Okay, who am I kidding?!?
I want MAJOR results.
I want this to be the problem and fixable with medication, and be done.
I want the tests to find nothing else wrong.
I want to see her walk, and talk and chase her sisters.
I want her pick up her fork at the dinner table, and eat like a champ.
I want her to eat fast food in the car with the girls and not smell it the whole way home.
I want her to ride a bike.
And tell me what hurts.
And sing, and twirl and dance.
And above all......
I just want her to outlive me.
And I am so scared to hope for all those things,
so I just pray,
and pray,
and pray some more.
Sigh.
She said that Dr. Shoffner will be out of the country a week this month, and a week next month which means he will be backed up on the rest of usnot so patiently waiting. She said to not expect we will see/hear from them until September, but if he can review all the tests and compile the results in his lovely 75 page report before then, she promised she would squeeze us in.
So here we are.
Not much or a diagnosis??? We really aren't sure.
I check my phone, and my heart sinks.
Dr. Shoffner's office.
Ugh.
His nurse called to tell me that Celia's spinal tap revealed that she has cerebral folate deficiency (CFD).
What we know right now is.....
CFD can be associated with mitochondrial disease, but it doesn't always mean mito.
It can mimic mito/CP etc, so it can cause hypotonia, ataxia among other things that Celia definitely has.
We start a medication tomorrow to get folate to her brain.
The younger the folate is started, the better the outcome.
(Young meaning younger than 6 years old.)
The outcome can be minor- like sleeping better, or chewing better and just overall feeling better.
OR....
It can be MAJOR- like walking, language explosion, self feeding, sitting up.
Yeah.... THAT KINDA MAJOR.
I can't let my mind think MAJOR. I am praying for that, but I'll take her feeling better and be thankful.
Okay, who am I kidding?!?
I want MAJOR results.
I want this to be the problem and fixable with medication, and be done.
I want the tests to find nothing else wrong.
I want to see her walk, and talk and chase her sisters.
I want her pick up her fork at the dinner table, and eat like a champ.
I want her to eat fast food in the car with the girls and not smell it the whole way home.
I want her to ride a bike.
And tell me what hurts.
And sing, and twirl and dance.
And above all......
I just want her to outlive me.
And I am so scared to hope for all those things,
so I just pray,
and pray,
and pray some more.
Sigh.
She said that Dr. Shoffner will be out of the country a week this month, and a week next month which means he will be backed up on the rest of us
So here we are.
Not much or a diagnosis??? We really aren't sure.
That is good news. At least now you have a starting place. Love and prayers my dear.
ReplyDeleteI'll be praying for MAJOR IMPROVEMENT!!! I would LOVE to see a miracle here for this little girl. Could it really be this simple?
ReplyDeleteHow does the folate medication reach her brain if dietary folate doesn't?
I'll be praying to give you strength. This must be a long haul for you - waiting for test results like these to trickle in.
Well, Dr. Claxton (surely you two must have your MD degrees by now!), this is indeed encouraging news. We are so happy to hear this. We have hope, we have trust and we have assurances of Rom 8:28. And it's OK to pray for a miracle which is what we are doing. Thank you for this exciting news!
ReplyDeleteWow! The waiting game is so intense!! We are praying with you that this medicine is just what she needs. Praying for MAJOR and for peace that passes ALL understanding as you wait for more results. Love you guys!
ReplyDelete