Archives for December 2008

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.

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.

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”).

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!!!

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!)

We have some great neighbors here.  They know my kids really well, and they spend quite a bit of time over at all of their houses.  I don’t really talk much about what is going on with Hannah to anyone around here, except a couple of them.  They know her symptoms, they know the many different doctors appointments we go on, and they know that we are waiting for the skin biopsy results to give us, hopefully, a diagnosis so we can move forward.

All of them tell me that the doctors just need to figure out what is going on so they can get her well.  Or that “it will be something they can fix.”  Each time I hear this, my heart hurts because I really don’t know how to respond except with “I hope so.”  I don’t tell them about NPC or the seriousness of the lysosomal storage diseases that they are currently working Hannah up for. 

What am I suppose to say… I’m already having a difficult time even knowing that this could take her away from me in such a short time if it is what they think.   I’m exhausted, but I was just lying in bed a few minutes ago, just replying those comments in my mind.  Then I start thinking about the worst case scenario and then how do I tell people?  Then I get mad at myself for even thinking worse case scenario because this is my daughter we are talking about.  Then I just start having this fight in my head and then, like just now, I come downstairs to break down and just cry. 

I pray, pray, pray for good news — something treatable, even if it is a lifetime treatment.  I still can’t wrap my head around all of this yet, especially with all of this uncertainty and the “could it be this?”  But then I keep telling myself that if we are going to get bad news, please let it be after Christmas so we can spend a happy Christmas together.  But if it is good news, please tell us before Christmas so we can spend a happy Christmas together.

This is just so not fair.  Hannah is such a beautiful little girl with such a contagious grin and laugh.  Why does she have to go through this?

We have Early Intervention tomorrow morning… in about 8 hours actually.  I am very interested in learning how this will help her, and us, out.