Posts Tagged ‘fibroblast’

It has been over a month now since Hannah had her skin biopsy done.  I send an email last week to our geneticist’s nurse to ask her the status (if it had completed growing out so it could be tested), but I never heard back.  I sent her another email again this morning.  

I will admit, not having multiple doctor appointments every week has done wonders for my mental state.  Seriously.  With the exception of the pediatrician, we haven’t seen a specialist since the ENT doctor a few weeks ago and Early Intervention a couple of weeks ago.   The next “round” of medical appointments won’t be until after the skin biopsy has been tested for the lysosomal metabolic storage disease workup.  

I still look at her, and I can’t believe she has something terminal.  Yes, she is developmentally delayed (still hasn’t rolled over yet and is just now grasping at things), she does have the enlarged spleen and liver, and yes, she does have the laryngomalacia.  But she is laughing, smiling, eating healthy, gaining weight, and just overall healthy-looking and happy!  Call it denial or whatever, but I really have a hard time grasping that their lead diagnosis is something like Niemann Pick type C.  Just isn’t registering in my brain anymore.

Regardless, I do find myself a bit lost.  I feel like my life is on hold right now until we know which direction we are going.  We joined our local temple last week, and under “volunteering”, I didn’t put anything because I have no clue what my life will be like after we get the results.  I haven’t volunteered for any of the kids’ school functions because, again, I don’t know what my life will be like.  So many things are “on hold” until we know which direction we are going. 

Again, I just want answers.


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On his last email to me, Hannah’s genetic doctor said that they will be sending off her fibroblasts from her skin biopsy once the cells have matured (or whatever they do) for a “full workup.”  I looked up the website for the laboratory doing the study, and this is what they will be testing for.  I just need to find time to go through all of these and see if Hannah’s symptoms may match something else as well as NPC and Gaucher’s.  (Even though we know NPA and NPB have been ruled out via blood studies and Gaucher’s is “unlikely”).

GM1 gangliosidoses
GM2 gangliosidoses
Mucopolysaccharidosis VII
Metachromatic leukodystrophy
Krabbe disease
Niemann-Pick Types A & B
Multiple sulfatase deficiency
Gaucher disease
  Hurler-Scheie syndromes
Fabry disease
Maroteaux-Lamy syndrome
Sialidosis and Galactosialidosis
Sialic Acid Storage Disease and Salla Disease
Mucolipidoses II & III
Sanfilippo Type B
Niemann-Pick Type C (requires loading studies)
Wolman disease (chol. ester storage disease)
Farber disease (requires loading studies)

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Skin biopsy update

Finally got an email response from Hannah’s genetic doctor’s nurse…
I just checked with the lab. They could give me no indication for concern, so we must assume it’s growing and will be sent for testing at some point in the near future. Unfortunately, they can never say precisely how long that will be.

At least we know it is still growing.

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Great news — the Neimann Pick A and B tests came back negative!!!! HUGE relief. The doctor said that at this point he basically has a list of possible diagnoses, and he is just going down the list starting with the most likely…Gaucher’s is still on the list even though it seems unlikely at this point.

Bad news — Hannah had her skin biopsy today, and that was a huge nightmare! It actually went the way it was supposed to, but even with the lidocaine to numb her arm, she still screamed bloody murder. I can handle a lot of medical stuff, but her reaction was really getting to me. Fortunately it didn’t last longer than 10 minutes, but it seemed like a lifetime. (Basically, they take what is similar to an eyelet punch /hole punch and put it in her arm to get a full layer of skin and put that skin sample in a vial to be grown out for cells).

The next tests to check for her Neimann Pick C and Gaucher’s. Unfortunately it takes a month to grow out the cells and another 2 to 3 weeks for the results, so we probably won’t hear anything until after the new year. We have her opthomology appt next week to try and rule out some other possibilities and also to see why she has the blue tint to the white part of her eyelids. We also have early intervention starting next week so we can keep track of her development.

Oh yeah, and she is 12 lb 8 oz! She is growing like crazy! She has almost doubled her birth weight already.

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