Hannah had her skin biopsy on November 12th. They said it could take a month or so to grow out. I know that her cells are growing slowly, but they have GOT to be ready this week, don’t they? It has almost been two months. I’ve had a really rough time sleeping lately — partly due to a cold and partly due to the fact that I’m really starting to get anxious.

Hannah’s geneticist’s nurse said the lab said another week or two for the cultures to grow out. That was 3 weeks ago. Now that the holidays are over, we should HOPEFULLY get word that her stem cells are ready for testing for NPC and the other lysosomal storage diseases in their “full workup”.

Scared, nervous, anxious, petrified… yep, that about sums up how I’m feeling.

What a fun afternoon. Big Boy E spent the day (and night – a sleepover!) at his friends house, so Daddy and I took Little Girl A and Hannah to the zoo. The last time we were there, Hannah was still inside my tummy!


It was also another first. We decided to graduate her from sitting in her carseat on the stroller to letting her sit in the stroller. Thank goodness it had a five-point harness because she still can’t sit up on her own.


She LOVED being able to look at everything. It was so awesome! She had no clue what she was looking at, but she was just all smiles and “big eyes” (what she does when something fascinates her). She lasted two hours before she fell asleep.


Little Girl A loved it too. Even though it felt weird not having Big Boy E there (it was like a part of us was missing), it was great to see Little Girl A exploring as the ‘oldest’ sibling. She had no one to copy, no one to harrass, and took on this independence like we have never seen before. It was really good for her.


I can’t wait to have more fun days like this (but next time with Big Boy E with us!)

There are only a few hours left of 2008. As I look back, I could never have even come close to predicting what this year would bring us.

I am so in love with you, my dearest little Hannah. I hope that 2009 brings us good news.

I have started working on getting a plan of action together so if we do get the diagnosis of NPC (or another confirmed diagnosis) that I can have a head start on being proactive. I have no idea what my mindset is going to be if we get a terminal diagnosis — each time I think about it I start to break down, and I know I have to hold it together.


So I have been studying up on our insurance benefits, researching NPC in more detail as well as other lysosomal storage diseases that are included in the testing they are doing with NPC, getting contact details for specialists (and finding out if our insurance covers them), looking into flight prices to the NPC specialist (if it is NPC), vaguely coming up with fundraising ideas for research and non-insurance covered treatments (like the $80,000/year Zavesca/miglustat experimental treatment), getting contact details for the National Institute of Health program (even though I already talked to the coordinator on the phone last month) and the National Niemann Pick foundation coordinator, articles on dealing with siblings of children with a terminal or chronic illness, etc.


I feel very lucky that I have some friends and family members who are willing to help out once we know what we are dealing with. When people ask me “Is there anything I can do?” these days, all I can say is “not now, but I’m sure I’ll be need help once we know.” Whether it be fundraising help, research help, volunteering time for projects, media help, etc., I know that I will take whatever is offered to me — whether it be as little as just telling their friends/family about Hannah’s situation (who knows, they may know someone who knows someone who could be very helpful) or really getting involved in a number of ideas I have. I know that every little bit will help.


If Hannah does have a terminal disease, I cannot sit back and not do anything, you know? I will do whatever it takes, ask for help from whomever has offered, and fight as hard as I can to make sure she gets every opportunity available to live a happy, cognitively intact, and painfree life.


I keep telling myself that there has to be a reason why God brought our little suprise, Hannah, to us after so many years of infertility treatments and adopting Big Boy E and Little Girl A to create our family. Maybe her purpose here is to help find a cure for a disease that currently doesn’t have one yet. I can’t believe God would be so cruel as to bring her to us after all this time (and three miscarriages) only to have her taken away from us.


And if my prayers are answered, all of this will have been unnecessary, as she will have a treatable condition and live a long and healthy life.

I got an email from the NPC supermom (Addi and Cassi’s Mom). She gave me a fantastic list of things to do to start preparing “in case” we do get a diagnosis of Niemann Pick Disease type C. It gives me something to start looking into right now because if we do get the NPC diagnosis or another negative diagnosis, I don’t want to waste any time getting Hannah whatever she needs.


However, she made this comment which I can’t seem to get out of my head. It literally has given me a knot in my stomach for the past 2 hours since I read it. I see that you said her cells are growing slowly — this is common with NPC skin fibroblasts. Addi and Cassi’s did the same thing. They took forever to grow.


I know this is not an actual diagnosis, but for some reason I feel like we are one step closer to doom.

November 12th. That was the day of Hannah’s skin biopsy. They said the skin biopsy could take about a month or so to grow out the cells so they could be tested for NPC and the other lysosomal storage diseases on that list. It has now been over 6 weeks since the biopsy, and I’m a bit freaked out. Once the cells get sent off, it will be 2 to 3 weeks before we get those results.


It is like a double-edged sword…I definitely want to know the results of the testing. But I don’t want to know them if she indeed does have Niemann Pick type C or some other terminal disease. I still just can’t believe that she could be that sick, you know?


On a separate note, she has started this, I don’t know what you would call it, but this “sleep crying” during the night now. She will be quietly sleeping, and then she starts this crying look on her face and cries out for about 20 to 30 seconds, sometimes a bit longer. I don’t know if she gets a pain when she sleeps or if she is having a bad dream, but it is happening more and more often now, at least 3 or 4 times a night. It has already happened twice tonight, and it isn’t even 11:00 PM yet. I don’t know if this is something to worry about or not. I’ll bring it up with her pediatrician on the 7th.