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Posts Tagged ‘Gaucher’

That old addage “preparing for the worst, but hoping for the best”… that is where I am right now.  I’m tired of crying about the “what if’s” and the “could it really be true,” I’ve decided to just prepare myself for the worst — that she has Niemann Pick type C, the lead diagnosis we are currently waiting for the skin biopsy results on.  Even if she has Gaucher’s, we still have more hope as there is some treatment available.  Anyone who knows me personally knows that I am not the type of person to sit around and do nothing and wait.  I admit I’m impulsive, and when I have my mind set on something, I will do what it takes to make it happen.   

I have been talking to a few moms of children who have Niemann Pick type C via email, and I even spent an hour talking to an amazing mom from Canada who just got the skin biopsy results the day before I talked to her.  Her toddler boy has NPC.  They all opened their hearts to me, let me ask questions, and gave me such support that I truly feel stronger now.  I look at one mom who I’ve been email with, Chris, who has gorgeous twin girls with NPC.  She is so amazingly proactive — getting the girls’ story on television, prominent scientific magazines, fundraising for research.   She told me to get started now and prepare…just in case.

So, that’s what I’m going to do right now.  Prepare for the worst, and pray for the best.  If it is NPC, then I want to be ready the day we get the diagnosis to get Hannah everything she needs.  If it isn’t NPC, then I will have somewhat wasted a couple of months — but it is not really a waste, because for everyone who reads this blog, they now know what Niemann Pick disease is and how devastating it is.  Exposure is so important with this disease. 

I have dozens of ideas in my head right now.  I know I’m going to need A LOT of help from my friends and family — both resource-wise, brainstorming, and even fundraising support in their local communities.  i need to work on a game plan.  I need to have everything ready so IF the day comes and it is NPC or Gaucher’s (since I’m going to plan for both), then Hannah will have everything she needs THAT moment the word comes down.  And if it isn’t either NPC or Gaucher’s, I will work on this plan until the day that a diagnosis IS found for her condition.

I’ll most likely be sharing most of the ideas here in my blog.  This is the “ground floor” of getting Hannah well.  I’ll be damned if I don’t try everything in my power to keep Hannah well and give her a long, happy, and comfortable life!

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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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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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