Tuesday, March 10, 2009

Hannah's Video

Monday, March 9, 2009

Hannah's Story

Story by Hannah's mother:
Hannah was born on July 25, 2008. She was 6 pounds 11 ounces and 19 inches long. Two days after birth, it was found she had an enlarged spleen and extremely low thrombocytopenia. Eventually her liver became involved, and she developed slight anemia. Now we are trying to find out what is going on.
Hannah was the “oops” baby that was never imagined. After 10 years of intense infertility treatments, we ended up with nothing more than 3 miscarriages. After grieving the loss of the biological child we could never have, we decided on adoption as the path to create our family.
Our son, Ethan, was adopted from Russia in December of 2001. We adopted Abigail from the same region in Russia in October of 2004. At the time, we felt our family was completed — after all, you can’t have an “oops” adoption!
In January of 2008, we found out that I was 9 weeks pregnant. To say we were shocked and surprised is an understatement. I ended up on bedrest at week 29 due to severe pregnancy-induced hypertension and remained there until I delivered at 36 weeks 1 day.
Hannah is a beautiful baby. I immediately fell in love with her and wanted to hold her every chance I had while I was in the hospital. However, I was exhausted on the second night, and I asked the nurse to take her down to the nursery so I could get a few hours of sleep.
That’s where it all started…Someone felt a “mass” on her abdomen, and then because of her jaundice and bloodwork relating to that, they found that her platelets were extremely low (6000 where 150,000 to 350,000 are normal). She was sent to the NICU because they were worried about spontaneous brain bleeds with platelets that low.
She remained in the NICU for two weeks. During that time she had a platelet transfusion and an IVIg transfusion. Ultrasound had confirmed the enlarged spleen and no head involvement. They were waiting to discharge her until her platelets reached 100,000, but after two weeks, we begged her to be released even though she was only at 66,000.
She didn’t reach that 100,000 mark until she was 8 weeks old. Thank goodness we had her home with us!
At her 4-month birthday, her platelets have remained stable around 93,000 to 106,000. Her spleen is still extremely large, and her liver is enlarged as well (but not as much as the spleen).
However, with all of her internal and blood-related symptoms, she is acting and has always acted like a happy and healthy child. She eats well, has gained weight as she should, is developing on track, etc. We are thrilled that she acts so healthy! She has since developed larynomalacia (poor throat muscle tone) and was accepted into the Early Intervention program due to physical developmental delays (tested at the 2-month level at 4 months old). But socially, she is testing 2 months ahead — easy to see, she just loves people and loves to smile!
We are now working with a team of doctors including a hematologist, hepatologist, opthamologist, and a genetics specialist to try and figure out what is going on. She had a skin biopsy on November 12th, and we just received the results on January 7th. Gaucher’s disease, most likely type 2 or 3, a physical and neurological disease due to a lack of an enzyme needed to process food. There are treatments for the physical aspects of the disease but none yet for the neurological. Her life expectancy is 2, 15, 20 years or so — but we are in a fight to give her a longer and healthier life!
She is an absolutely beautiful and charming baby! She was my gift from God. We were meant to bring home Ethan and Abby first, and then we were given the gift of Hannah.
I am very blessed to have three amazing kids. Please help me fight for the life of our daughter, Hannah.

Hannah First Giveaway

In an effort to draw more attention to Gaucher’s Disease and other rare disease blogs and with the help of some special people, is going to have their first “Bloggy Giveaway!” They are starting to collect donations from now onwards. Please donate, she need your help.