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Archive for the ‘Medical Stuff’ Category

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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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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My sister-in-law (my husband’s brother’s wife) is due to have a baby girl next month.  She found that they have a cord transplant program where they would store the new baby’s cord blood and would be able to make it available for transplant for Hannah if needed.

I sent my genetics doctor an email asking if this is something we should look into, and he said it probably was a good idea!  We wouldn’t know if there was a match until testing can be done, but there would be a higher chance for a match than a random donor given that they would be cousins.  Depending on Hannah’s diagnosis, this could be an option.

I just love that last part.  Even if it doesn’t work out for some reason, what a wonderful gift my sister-in-law and brother-in-law have offered us.  But gosh, if it was an option, and it could save her life, wow!!!

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Finally, a positive meeting.  Keeping in mind that Hannah was born a month early, her adjusted age would be 3 months.  She is basically just a tad behind in everything at the 2-month level except, and get this, socialization!  She is at a 6-month level in that already.  Not surprising though — she smiles, laughs, recognizes certain people with a big grin (especially me), and babbles back and forth.  Whoo hoo — they even called her a “charmer.”  She has a way of capturing people’s hearts, I tell ya!

We decide to just go on a service plan for now and meet next month to see where we are and if we have a diagnosis.  It was difficult because one of the questions was “what would you like to see in 6 months?”  I told them, we are at this huge fork in the road because we have no clue.  If it turns out to be something benign, then we hope to never need their services.  If it turns out to be something devasting like NPC, then we will need a whole host of services, and everything in between.  So, we will wait another month and, hopefully if we have a diagnosis, we can come up with a better game plan.

But I did ask them about other services, and they do have family counselors that we can talk to and to work with us with the other children if the prognosis is not good with Hannah.  That was a huge relief because we may need the help.  They will also help with obtaining SSI (supplemental income) if we get to that point. 

But for now, good news — she is right where she should be (okay, just a tad behind, but at this age, it is good enough for me!)

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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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