Today is National Rare Disease Day

[minkydog]

My son Christian has Pallister-Killian syndrome (tetrasomy 12p), which is considered a very rare chromosome disorder. In fact, it took two years and over 200 tests and two well-known geneticists to finally figure out what it was. Back then there were very few resources available to educate ourselves and all of our doctors were just as clueless as we were. NORD was THE source of information at the time. PKS had only been recognized for about 10 years when Christian was born. There is more info out there now and there are support groups online.

Thank you, NORD, for recognizing rare and orphan diseases and disorders!

 

[chiefmickeymouse]

Another shout out for Marfans. My sister died of this disease sadly and no one knew she had it. Now they think one of our ds might have it. Dont want to veer too much off the thread but to those who posted about the Marfans, can you tell me if your family member had any ortho issues and what type, tia. They also told me the rare variant of the thyroid cancer I have is rare .sigh.

He was just diagnosed last summer. Yes, he has issues with his knees. Marfan syndrome causes weak connective tissue including tendons, cartilage etc. My son had knee surgery and eye surgery so far. Feel free to pm me if you have any questions. We had to go to a geneticist for diagnosis.

 

[Callie]

I hope you can get some answers.
I feel for everyone on this thread who has struggled to find answers, get appropriate treatment, and get that treatment covered by insurance companies that have so much trouble thinking outside the box! I can only imagine how difficult that must be.

Thanks...my sister finally got medication but its still expensive. Without insurance its $8000 a dose.

 

[tinkerbell555]

My son was just diagnosed in November 2013 with dermatomyositis. It is one of the rare diseases also. It is a disease of the skin and muscles. He is on weekly infusions of ivig, steroids and methotrexate. I hope they do more studies on this because most doctors have no clue what it is. We are hoping to go back to disney this october hopefully meds will be spaced out by then. thanks for posting