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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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Chatting with God

Growing up, I was never really heavily religious.  Sure, we did the important holidays (Passover, Hannukah, sometimes Rosh Hashana and Yom Kippur).  However, I always felt a strong connection to my Jewish culture.  I guess you could say that I’m “culturally” Jewish.  I married someone who wasn’t Jewish, but he embraced the Jewish religion, learned all he could (which was more than I knew), and agreed that we would raise our children Jewish.  We joined a temple shortly after getting married, but that lasted only briefly.

Now that I am facing this possible life-threatening situation with Hannah, I find myself becoming more attached to my religion.  I have probably talked and prayed to God to keep Hannah (and my other kids) safe more times in the past few months than I had over the past 10 years.  I must have said “please” a million times at least for so many different things these past few months. 

So now, I’m finding myself being drawn back to getting more involved in my religion.  My husband even is feeling the same way.  Why is it we only reach out when we really need something “bigger than us” to believe in?  Thank goodness religion is something that will always welcome us with open arms.  My husband even wants to have the kids try out religious school this Sunday.  Big Boy E is VERY excited about this idea, as he is fascinated with God, religion, and understanding what we can’t see.  Little Girl A will just have playtime.

Regardless of what happens with Hannah, I know that we will need this kind of support in the future.

Last night after dinner, Hannah started just laughing hysterically.  We have no clue what set her off, no clue what made her continue to laugh, but it is times like this that just make EVERYTHING worth fighting for her, you know?  Enjoy, I know I did!

Pediatrician Visit

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.

Out of Denial…

Hannah at holiday festival - 4-1/2 months old

Hannah at holiday festival - 4-1/2 months old

After having a wonderful weekend living in denial of what is happening to Hannah, I got bounced back into reality quite a few times today.  I keep looking at her.  She has her breathing and eating issues as well as the really big abdomen from her spleen and liver being enlarged, but she is just such a lively, smiley, and happy little girl.  How can she be so sick??  And then I think that we are coming up on one month since the skin biopsy was done.  I started going through that list of tests other than Niemann Pick type C and Gaucher’s disease, and there were a few that also had enlarged spleens and livers as symptoms.  In a way, it gave me a bit of hope.  But most of those diseases also have quickly fatal outcomes, but not all.

Then, after a comment in my previous post by another visitor, I came across Nicole.  Her son Grey was diagnosed with Krabbes disease, which is also disease that is going to take him away from his loving family way too soon.  Even though Krabbes disease is on the list of diseases they are testing Hannah for, it doesn’t match her symptoms. 

But I read her posts, and I just started crying.  I keep thinking, that could be me.  I don’t want that to be me.  Please let them find out what is going on with Hannah and PLEASE GOD let it be something treatable!  I can handle taking care of a special needs child, but I can’t handle losing my baby girl before she even gets a chance to be a little girl.   I don’t know how the kids would handle it, how my husband would handle it, our family, our friends…how I would handle it.  Then I realize that in as much denial as I am in sometimes, this is just something that is eating me up inside.

I need answers.  I need them now.  When the hell am I going to get an answer about what is going on with Hannah.

We go to the pediatrician tomorrow for a checkup.  Another platelet check, check to see if her spleen and liver are growing again, talk about her developmental delays, etc.   Just a checkup.  He is also waiting this out with us.

“Full workup”

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)

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!!!