Did you know that Gaucher’s disease is pronounced GO-SHAY’s disease?
Thanksgiving and my “cause”
27 Nov by
For those of you on facebook, I created a “cause” for Hannah. I’m not asking for donations at this time, I’m just trying to spread awareness of what is going on with her. When we know what the actual diagnosis is, I’m going to come out fighting and do whatever I can to help her!
Join “Hope for Hannah” today! We already have over 75 members in just three days. My goal is to get to 500 members, one member for each child who has NPC. Please invite your friends as well so we can reach this goal!
Tomorrow is Thanksgiving. I give thanks for so many things… my children, both my parents and inlaws are healthy, I have good friends, family who is supportive, and a husband who is just the most amazing and wonderful man…my best friend.
To all my friends and family reading, Happy Thanksgiving to all of you!
NPA and NPB ruled out!
12 Nov by
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.
Where we are today…
6 Nov by
|
Where we are today… Hannah is almost 3-1/2 months old already, can you believe it?
Gaucher’s disease is still on the table, but it may be close to being ruled out. Per the specialist: 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! |
Another piece of the puzzle
29 Sep by
Dr. M, the hematologist, is out of town until Wednesday. But Dr. B, our pediatrician who I absolutely love for how much he goes out of his way to help, looked up the results of the liver function tests for Hannah from last Thursday. They all were normal with the exception of an elevated GGT in the 500s. What that means? Possibly some biliary duct obstruction or liver damage, but Dr. B admitted he isn’t an hepatologist and is calling TCH to get us set up with one sooner rather than later. But apparently this wouldn’t have anything to do with the spleen/blood issue.
But hey, any piece of the puzzle is a step ahead, right? (At least that is what I keep telling myself).
New symptom
25 Sep by
Went to TCH today for followup with the hematologist. Last time, he was very carefree and not very proactive with Hannah because it seemed as she was getting better on her own (hence the 5-week later followup). That changed today.
It seems that since the ultrasound 3 or 4 weeks ago, her liver is now “significantly enlarged.” What this means, I have no clue. He seemed pretty concerned and wants us to see a colleague of his, a gastroenterologist, at TCH next week. He was stumped as to what was causing the low platelets (which dropped from 120 to 107 since last week) and the enlarged spleen, but maybe this enlarged liver can shed some light on things.
I asked him if we are dealing with something life-threatening at this point. He said “No.” Then I said, do we need answers in the upcoming days, weeks, or months. He said “weeks.”
So frustrating…not to mention that I spent over 3-1/2 hours there today between the first blood draw (which Hannah screamed) which was a heelprick to waiting to see the doc and then waiting another 90 minutes to get more blood work intravenously (to check liver function and related things.).
Latest Comments