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Archive for the ‘Gaucher’s Disease’ Category

Hannah is 13 lb 1 oz!  I cannot believe how much she has grown!  I mean, she was 12.8 lb when they did her skin biopsy last week!  Crazy, crazy!

Her liver does seem bigger to him, maybe by a centimeter or so.  Her platelets are holding stable at 103,000.  Her spleen is still enlarged at 6 cm. 

He also started her immunizations.  Better late than never.  He did the 3-in-1 shot, but he is going to do this slowly and not do all the 2-month-old shots just yet.  Because her spleen is involved, he doesn’t want to overwork it with all these immunizations, even though he got the go-ahead from the genetics doctor.

New symptom or not…she has this, I’m not sure how you would call it, like an rough-skin patch on both of her ankles.  He termed it lichen-something or other.  I have an email to him asking him for the name again.  So, he wants us to slather them in vaseline tonight and cover it with a sock overnight.  Kind of like Big Boy E’s eczema outbreak routine.  He says it could be something related to whatever she has, or it could be totally separate.

The breathing issue is getting worse, and he wants us to see an ENT (ears, nose, and throat) doctor now.  Not like she doesn’t already have enough doctors already (this will be #6).   He saw the gasping when he was examining her.  It isn’t like she is struggling to breath, because I do look for the signs of that (nostrils flaring, chest retracting, etc).  She just gets so riled up with excitement sometimes that it starts.  But usually, it just happens mildly — that is what he saw. 

He called her a medical mystery.  I hate that.  I called my mom after the visit, and she told me I sounded “deflated.”  Honestly, that was a good description of how I felt. 

Tomorrow is the opthamologist for a retinal exam.  I’m PRAYING they don’t see any cherry red spots in her retina.  If they do find it, it means she most likely does have one of the lysosomal storage diseases (like NPC or Gaucher’s).  If she doesn’t have them, that still doesn’t rule those diseases out. 

I wish we could get something concrete soon.  Off to cuddle her some more…. her smile just melts my heart!

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Where we are today…

Hannah is almost 3-1/2 months old already, can you believe it?

  • Skin biopsy on 11/12. This is so they can get a full DNA and enzyme test on Hannah without having to get bloodwork each time. Also used to rule out/rule in Gaucher’s disease.
  • Opthamology on 11/19. Meeting to do a full retinal exam on Hannah and also to check for cherry red spots on her retina (Neimann Pick disease). Also to get some ideas at why she has a blue tint to the white part of her eyes.
  • Early Intervention Services on 11/20. Dr. B, our pediatrician, wants us to get started with them right away so they can monitor her neurological and developmental milestones regardless of what we end up with.
  • Genetics specialist on 11/26. If the Neimann Pick isn’t back by then, not sure what we are going to talk about.

Gaucher’s disease is still on the table, but it may be close to being ruled out. Per the specialist:
“It would be very unusual for a patient with Gaucher disease to have 50-55% of the normal enzyme activity. It seems most likely that your daughter is a carrier and that her symptoms are not due to Gaucher disease. Testing for NP sounds like a good idea. If Dr. G does do a skin biopsy, the test for the Gaucher enzyme could also be repeated on the skin fibroblasts just to confirm the blood levels. There are also some other blood tests that indirectly can point to a diagnosis of actual Gaucher disease. THe most reliable among these is a test called chitotriosidase. This enzyme is usually very high in patients with Gaucher disease-moreso than in virtually any other disorder. However, 6% of the general population have a mutation due to which they do do not make chitotriosidase so it is not a test that is 100% useful. Additionally, patients with NP can have elevations of chitotriosidase but not nearly as high as those typically seen in Gaucher disease. Another blood test is CCL-18 or PARC but this test is not commercially available in the US as far as I know.

We are currently waiting on the results of the Neimann Pick A and B tests. Unfortunately, those aren’t due back for three weeks. Why the heck does it take so long?????

Emotionally, I’m having an extremely difficult time with this right now, especially having NP on the table along with Gaucher’s. Why can’t there be something on the table that isn’t going to take Hannah away from me in a couple of years?? There just has to be something else!

 

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