Archives for December 2008

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.

Hannah had her first Christmas! Santa brought her some fun toys, and her favorite was this stuffed puppy dog that had sounds. It was priceless how she immediately smiled and grabbed with it with BOTH hands (new milestone!). I’m so glad I got that on video!


The day seemed to go by really quickly, and I admit that I really didn’t enjoy it as much as I should. Both of our families live out of state, so it was just the five of us. Big Boy E was just completely wild and mean to Little Girl A all day long. Even though he had taken his ADHD medication, I think the excitement of the day just overpowered his meds, and he was just boucing off the walls ALL DAY. Little Girl A was a bit better, but the whining about her brother and the constant trying to get him in trouble was just so annoying. Thankfully Hannah just went with the flow.


There were just a few times during the past few days that I think about what we have in store for us in the next few weeks. It scares me to death. I just have absolutely no clue what to expect. No clue what direction we will be going in. Argh!! Just thinking about it now is pissing me off.


I’m disappointed with myself that I couldn’t enjoy this holiday season. I actually was really excited at first, but then I just got lost and just went through the motions when it actually came down to it. I felt like I spent most of the day playing angry referee between Big Boy E and Little Girl A. Missed the whole point of the holiday really.

The night before last, I finally took the time to color my hair.  I had to get rid of the “grandma hair,” as Little Girl A calls it, which is ironic since neither of her grandmas have actually gray hair.  (Stereotype at an early age, I guess?)


Anyway, I had to wait 25 minutes for the color to set.  Hannah was pretty fussy and crying in Daddy’s arms.  She gets this way when she doesn’t sleep well during the day, which is another issue we are working on.  I hated watching her cry and even attempted to pick her up, which my husband abruptly stopped me because 1] he wants to take care of her, and 2] the smell of the hair solution was pretty strong and probably not good for Hannah to be leaning against.  I know he was right. 


Even so, it really bothered me to watch her cry and fuss so much.  I even attempted to rinse it out early to take care of her, but my husband said “no.”  We both agree that she needs to learn to be comforted by someone other than me (especially with her daddy), but it is so hard to watch. He tried so hard.  He tried the rocking chair, walked around the house, laid down with her, stroked her face like she likes it…you name it, he tried it.


The 25 minutes finally ended and I took a quick shower and got ready for bed.  As soon as I opened the doors from the bathroom.  She was crying hysterically to the point where her face started to get red and blotchy. 


I picked her up and put her on my shoulder… it couldn’t have been more than 20 seconds, but she was quiet and laying on me.  I looked at her splotchy red and tear-stained face, and she gave me the biggest smile.  I smiled back. I then said “Hannah, you do realize you just broke your daddy’s heart!”  She laid her head right back on my shoulder and took a big breath and relaxed.  We laid down on the bed, and she fell immediately asleep.


THAT was an incredibly “Mommy” moment.  So powerful.  So amazing.

I had trouble going to sleep last night even though I was exhausted at 9:30 PM.  My husband and I both went to sleep around 10:30 PM, and then I just started thinking and thinking.  I hate when I do that because I end up staying up until early in the morning (3:30 AM this time) and can’t sleep.  It is like my thoughts get progressively more negative and more intense and worrying. 


Last night, I really started to worry about money.  I’m not going to be able to stay home with Hannah indefinitely even though I REALLY want to.  I kept thinking that “what if” we get a horrible diagnosis — I don’t want to go back to work, I just want to take care of her every moment I can.  Then, I deviated to “what if” she has NPC and our insurance company doesn’t cover the experimental miglustat/Zavesca — it only covers up to $8000 a year and this medical alone runs about $100,000 a year (just for this medication!).  How do we find that money?  We have no choice but to find it, you know?  But where would we find that kind of money for that and her other medical treatments not to mention just our life in general?  So, I started really freaking out about money to the point I just started crying at 2:30 AM.   We are already living off our savings right now because I’m not working — but that won’t last forever. 


Until we know something, and if we get a serious diagnosis like NPC, then I want to be the one to take care of Hannah, not someone else.  I’m not against daycare.  Heck, both of my other kids were in daycare at 18 months (part time).  But if Hannah is going to require special care for her special needs, then I want to…I HAVE to be the one to do it (or another family member that I completely trust).


We celebrate Hannukah and Santa in our house, which obviously spoils our three kids tremendously.  We actually didn’t get Hannah any Hannukah presents this year, and my kids were so disappointment with us.  They kept saying that it wasn’t fair and that she should get some too.  We made the excuse that since she can’t open the gifts, she doesn’t need them this year.  They still believe in Santa, so Hannah will get “Santa’s gifts” from us instead.  I was really touched though at how emotional my kids got, especially my 8yo son, because his baby sister wasn’t getting a Hannukah gift.  We promised them next year she will.


Now that the spending for the holiday season is over and all our big expenditures this year, we are going to be extra frugal in our spending just to try and make it so I can stay home as long as possible.  But I know clipping coupons and cutting back a bit isn’t going to bring us the type of money we need if we get the news we fear. 


I really don’t know what we will do if this actually happens.