World Rare Disease Day - 2012
January is almost over and I am happy to report that Madison has met her deductible for the year! We will meet our family deductible the 1st week of February and our out of pocket max should be taken care of sometime in March or April. And this is just the stuff that I know about. That’s how ya roll when you have 3 kids with a rare genetic condition.
February 29, 2012 is World Rare Disease Day. The main objective of Rare Disease Day is to raise awareness about rare diseases and their impact on patients’ lives.
I am hoping to help raise awareness by being more open about how our RARE condition affects my family.
Trichothiodystrophy, which is also called TTD, is an autosomal recessive disease, characterized by brittle, sulfur-deficient hair and multisystem abnormalities. The hallmark of this condition is the brittle hair that is sparse and easily broken. It is also associated with Ichthyosis which is dry, scaling skin that may be thickened or very thin. That is what I thought TTD was when I first heard the diagnosis. I thought the kids would have a little dry skin and cute, short hair. Well, they do have some dry skin that is maintained with lotion and the kids’ hair is short and super cute thanks to our fabulous hair dresser (if you are in the Dallas area call for her number – she is amazing!). However, as I live each day, add each new specialist; I find out TTD effect so much more than skin and hair.
TTD is a rare. Last stat. indicates that there are 112 cases identified world-wide and 19 in the United States (we have 3 of them). A rare disease is defined as a condition with such a low prevalence in a population that a doctor in a busy general practice would not expect to see more than one case a year. Again, our doctors see 3 cases… multiple times every year.
You may say we should go to Vegas or play the lottery but the stakes we are playing with are pretty high. Considering the following statistics, I think I will keep what money I have in my pocket:
· 30% of children with RARE disease will die by their 5th birthday (3 out of the 3 have made it past this mile-marker. Chase will be 6 next month)
· 75% of rare diseases affect children. (100% of our kids are affected)
· These rare conditions are chronic, life threatening and FATAL (We are doing our best to beat this “fatal” statistic)
· There are NO cures for any rare disease, and only 5% of the diseases have any type of treatment (We treat symptoms and hope for the best)
We recently were referred to a hematologist to evaluate 2 of the 3 kids for immune deficiency. At this visit we were told that we may be gambling more than we thought. We were told that Chase has “Lazy T-cells”, that he is an “immunologic time bomb”, and that he should wear a mask when he goes outside to play (Chase is a 5 year old BOY). We were told that Madison should continue her school at home, that she should wear a mask when she is around people, that there is another IV medication that she can take if her labs drop below a certain level, and that the only way to “fix” her immune systems is to have a transplant (Madison is 9). That news came last week so it is pretty fresh but I guess I am happy that there are a few options before we hit that transplant decision!
When we first got the Trichothiodystrophy diagnosis, I thought it was a condition that affected the skin and hair… a form of Ichthyosis. But TTD is so much more than that. This TTD is BIG! I worry every day about doing stuff that most people don’t even think about. I worry about taking the kids to school, having people over, an ear infection that turns out to be MRSA, and a stomach flu that leads to dehydration. TTD is not a condition that you can put a little lotion on and be done with it; this TTD is determined to educate me on a whole spectrum of body systems from dermatology to hematology and everything in between like audiology, endocrinology, gastroenterology, immunology and ophthalmology. You know what is really funny; I don’t even have a dermatologist.
Be aware; Care about Rare.
If you want to blog hop to other Rare blogs, follow the below link…
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To get involved: http://globalgenes.org/
To get involved: http://globalgenes.org/
