World Rare Disease Day is being held Feb. 28, 2009. Join the fight to raise awareness and educate people on genes and how they impact health! Millions of people worldwide are impacted by rare diseases of different types — together they make rare disease not really rare.

Please share this video on your blogs, among your friends, and wherever you can.

My blogroll for active blogs for children with rare diseases and other life-threatening medical conditions is slowly growing.  I’ve removed the direct links from the bottom left sidebar, and I have created a separate page listed at the top “More Special Kids.”  Please keep sending your links and help spread the word. 

If you have the time, please visit each of these families and send them your good thoughts for their kids.  I know as a parent dealing with this that comments, even just the “thinking of you” comments, mean so much during these unique times.

This letter is going to be presented to a congressman working on the bill I mentioned last night, HR 5748.   I hope I made it powerful enough to catch his attention!

Dear Congressman,

One of my cherished roles in being a mother is to guide my three children on the path to following their dreams and to pursue the career of their choice.   For my two oldest children, I can encourage them to reach for the stars and dream big.  For my youngest daughter, I have to tell her that she cannot dream.

My youngest daughter, Hannah, is six months old.  She was born with an enlarged spleen, enlarged liver, and extremely low platelets.   She has suffered through numerous procedures (IVIg transfusions, platelet transfusions, skeletal surveys, skin biopsies, etc.) and probably has had more blood draws than most adults.  Finally, after five months of searching for a diagnosis, we now have one.  Gaucher’s Disease, type 1 or type 3.

Hannah has one of the most severe forms of Gaucher’s disease, as her body produces absolutely no enzyme to help break down the fat in her body, so it gets stored in her spleen, liver, and possibly her brain (type 3).  It is incredibly rare for a newborn to display this disease, so we feel we are travelling a road that very, very few have travelled before us.

For the physical aspects of this disease, she will be starting Cerezyme treatments via IV infusion every two weeks for the rest of her life.   Picture if you will, an infant baby girl having to be painfully pricked with an IV and attached to a machine for 3 to 4 hours every two weeks in order to save her life.  How does a mother explain this to a baby, a toddler, or even a young girl?

Cerezyme is one of the most expensive drugs on the market today.  As an adult, the cost of her treatment will average about $250,000 to $300,000 a year by today’s standards.  Even as an infant, the Cerezyme alone will cost over $30,000, and this doesn’t include other related medical bills such as doctor visits, use of the infusion center for the treatments, possible upcoming surgeries, etc.

Because of the numerous doctor appointments, weekly therapy sessions, and Cerezyme treatments every month, I am unable to return to work.  We are now living off our small personal savings along with my husband’s income from his job to raise our three children in addition to dealing with our mounting medical debt.

We applied for Supplemental Security Income to give us a little assistance.  We were immediately turned down once I shared what our current income was.  Just like that, our chance for any help was dashed.  What was even more shocking is that our income is not that great compared to most families of five.  My husband and I have both been regularly employed for over 20 years, never needing government assistance.  We have been “paying into the system” for years, and now when we need help from the system we have been funding for over two decades, the door gets slammed in our face.

Our family has gone from living a comfortable two-income middle-class lifestyle with a small savings to now being faced with possible future bankruptcy because of the cost of medical treatments and procedures for our daughter. 

What makes matters worse is that Hannah is never going to get the chance to make a decent income as an adult.  Since most insurance companies would probably not insure her because of the cost of her treatments, she is going to have to rely on Medicaid to cover her treatments.  In order to qualify for Medicaid, she has to settle with only being able to work a low paying job.

How do I tell my daughter that her brother and sister can strive for any job in the world, but you have to resign yourself to the fact that you can’t have a “dream job” and instead will have to take a low-paying job for the rest of your life just to save your life?

Because of her Gaucher’s Disease, she has already been given monumental life obstacles to deal with over her lifetime.   But this disease does not take away her ability to dream.  You have the opportunity to give my daughter the chance to dream and to be anything she wants to achieve by supporting bill HR5748. 

Thank you,

 

I got a phone call from someone representing the Ryan Dant bill, HR-5748.  She is heading to Washington this week to meet with a congressman about getting this bill moved forward.  “H.R. 5748 would amend title XIX of the Social Security Act to permit States to exclude earned income in determining eligibility for medical assistance for individuals with extremely high prescription drug costs.” 

This bill will directly affect Hannah in so many respects.  With the laws the way they are now, if Hannah is able to get insurance coverage when she is an adult and she hits the maximum cap, then she would have to apply for medicaid for her life-saving bi-weekly treatments.  In order to qualify for medicaid, her income has to be below a certain level.  This means that Hannah would not have the opportunity to strive for the job of her dreams; instead, she would have to resign herself to a low-paying job in order just to have her medical treatments.  How do I tell my daughter that her brother and sister can strive for any job in the world, but you have to resign yourself to the fact that you can’t have a “dream job” and instead will have to take a low-paying job for the rest of your life just to save your life?

H.R. 5748 provides an alternative to individuals facing a similar situation, by allowing a Medicaid state option that would permit individuals to be released from the qualifying earnings restrictions. This legislation would apply only to individuals who pay more than $250,000.00 per year in prescription drug costs and have exhausted at least $1,000,000.00 in private insurance coverage. (NGF)

I was asked to write a 3 to 4 paragraph letter to the congressman this evening sharing our story to be presented at this meeting.  I was also asked that if requested, would I consider testifying in congress about our personal situation with Hannah.  Absolutely, unequivocally, without a hesitate, hell yes I would!!  I will admit, there is the selfish part of me that would be so proud to be able to truly be able to fight first hand for Hannah to have a better future.

I’m going to work on that now, and I will post it in the morning to share.

This bill would give Hannah the chance to dream to become anything she wants to be.  How can I not do everything and anything I can to give her that opportunity?

As most of you know, Hannah’s upcoming medical treatments for life scare the heck out of me financially. 

Not only do we have the stress of having the most severe form of Gaucher’s disease, regardless of type, but we also have the fear of type 3, one which will add neurologic problems and shorten Hannah’s life expectancy dramatically.   Because presentation of GD is so rare in newborns, we are in somewhat unchartered territory, and because it is such an extremely rare disease, there isn’t a lot of information out there to compare against.

Putting all that aside, Hannah’s Cerezyme treatment is going to help us try and keep away the physical symptoms of GD…bone crises and bone death, growth retardation, severe pain, compression of the lungs, and more.   But Cerezyme is considered one of the most expensive drugs in the world.   Hannah will need this drug, as well as other therapies, procedures, and surgeries for the rest of her life.  I’m not going to rant about this again.  You all know how I feel.

Tammy, Parker’s Mom, is dealing with similar financial issues and hoping that insurance and medicaid will help provide those life-requiring treatments for her beautiful boy.  

But her representative, Utah’s John Douglass, has championed legislation that disabled the Disabled Tax exemption.  Mr. Douglass — what the hell are you thinking?!?  Tammy mentions his “lack of compassion.”  She is being too kind.  The words I feel are much stronger, and they would probably require an R-rating, possibly an X-rating.  

Take a moment to read Tracy’s letter.  This is just beyond horrible… We need to fight ignorant people, especially politicians who are SUPPOSED to look out for the future of our children.

From the US Food and Drug Administration:

The original definition of “rare disease or condition” in the Orphan Drug Act was amended in October 1984 by P.L. 98-551 to add a numeric prevalence threshold to the definition:

“…the term rare disease or condition means any disease or condition which (a) affects less than 200,000 persons in the U.S. or (b) affects more than 200,000 persons in the U.S. but for which there is no reasonable expectation that the cost of developing and making available in the U.S. a drug for such disease or condition will be recovered from sales in the U.S. of such drug.”

The Orphan Drug Act (P.L. 97-414, as amended) includes various incentives that have stimulated a considerable amount of interest in the development of orphan drug and biological products. These incentives include tax credits for clinical research undertaken by a sponsor to generate required data for marketing approval, and seven years of marketing exclusivity for a designated drug or biological product approved by the FDA.

The FDA, through OOPD, funds the development of orphan products through its grants program for clinical studies.