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Skin Biopsy update

From Hannah’s geneticist’s nurse…

Per XXX Medical Genetics Lab, Hannah’s cells are growing, but rather slowly. They should be sent out to XXX within the next week (or two because of the holidays) for further testing.  Once received, it will take 2-3 weeks for results.

Slowly… of course, I’m reading into this now.  Is slowly bad?  Or is slowly just “slow”?

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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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Great visit with Dr. B, Hannah’s pediatrician today.  Basically, she is stable.  Her spleen and liver have not grown in size measurement since her last appointment three weeks ago.  She has an “old fashioned” cold (congestion), which on top of her laryngomalacia, we have to keep an eye on.  He also doesn’t agree with early intervention’s assessment of her gross motor skills (they put her at 2 months, he says she is right on track).  He did seem disappointment that Hannah qualified for EI services, however.  Since her platelets have been stable around the 100,000 mark for the past 10 weeks, we agreed to forgo her having to get her heel pricked to run another test.  The last one was 3 weeks ago, so we will do it again at the next appointment in 3 weeks.  She also got two more vaccinations today – Prevnar and hepatitis B.

We talked about having to wait out this skin biopsy to grow out, and how some of those “on the list” for the full workup really don’t match Hannah’s symptoms at all.  He said many of the metabolic storage diseases (what we are testing for) have facial/body dysmorphic features, and Hannah’s facial and body structure looks completely normal.  Well, with the exception of her really cute chipmunk cheeks!

I was also a bit concerned about her weight.  She weighed in at 14 pounds 4 ounces today!  That is almost a pound jump in 3 weeks!  What concerns me is that she doesn’t eat that much formula — maybe 24 ounces a day.  At her weight, she should be eating around 32 ounces a day.  But Dr. B assured me that obviously she is using those calories really well and doesn’t need to eat a lot to gain weight.  Of course, I laughed to myself saying “Sorry Hannah, genetics got you there too!” 

So, at this point, EVERYTHING is pending on the skin biopsy results.  We have another appointment with Dr. B. in early January and Dr. L, the otolaryngologist, in late January, but everything else is put on hold until we know what we are dealing with.

On a separate note, she has become VERY attached to me, and I love it.  I love her smile when she sees me, and I love the fact that she loves cuddling with me.  I love that her most comfortable position is lying on me with me holding my entire hand on the side of her face, as if she wants to be completely closed in by me.  That has really become a trick with her lately.  If she gets fussy, I just lay her down on me, and as soon as my palm caresses her face and lays on top of the side of her face, she just closes her eyes and becomes still.  Her smile is so intoxicating.  I truly am blessed to have her.

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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
Fucosidosis
α-Mannosidosis
β-Mannosidosis
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
Sialuria
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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Hannah at 4 months old

Hannah at 4 months old

(New post at my daily life blog  – click to read)

Unless we hear something about Hannah’s skin biopsy, which I doubt, the only thing we have going this week is a meeting to come up with a IFSP (individualized family service plan) with Early Intervention.  Two people are coming over on Wednesday morning, and we were told it would last a couple of hours.  Being that she is only 4 months old, I’m really curious to see what they recommend.  However, I do plan to take them up on their posted services about finding support groups for both Daddy and I and for siblings if we need to take advantage of that. 

We pretty much had a complete denial weekend, and honestly, we didn’t talk about her condition much at all during the past few days until later this evening on the way home from dinner.  It was a nice mental break, I guess.  Denial would also be a good word for it.  But it was just nice being a family of five, cleaning the house after the carpet fiasco last week, and starting to get the holiday decorations ready.

I did receive the following email response from our genetics doctor.  His nurse told me about 10 days ago that she would check to make sure the skin biopsy is growing okay, but she has yet to return my messages.  So annoyed with that, and I will try again THIS WEEK and follow up on this.  If for some reason this skin biopsy fails to grow, I want to know as soon as possible, so we can get another one done and get some answers.

Anyway, here is part of his email…
The fibroblasts will be tested at our lab for Gaucher and also sent to the Lysosomal Disease Testing laboratory at XYZ where the cells will be tested for NPC as well as a screening panel for other enzyme deficiencies (a “full” workup).  These tests do not guarantee that we will have a diagnosis after they are performed, but we will have to cross that bridge when we come to it.

On a separate note…

 Hard to believe I was pregnant with Hannah at this time last year but didn’t know it!  Wow, if I knew then what I know now, I would not have believed it.

I posted a bunch of new pictures on facebook of Hannah, Big Boy E, and Little Girl A.  But here is my favorite one of Hannah! I’m still working on fixing my shutterfly account.

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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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