Rare To Some, Common Around Here

Today is Leap Day -- that extra day that only occurs every four years.  It is also Rare Disease Day.

As I sit here writing and sipping my coffee, I think about all the people I know, whether in real life or in the blog world, affected by so-called "rare" diseases.  Sure, these diseases may be rare when compared to the world but to each of us, they are an every day realty.  Medication routines, limitations to activities, endless doctor schedules, and the sad reality that these rare diseases may limit what our child/children will accomplish in life.

Today, I am taking just a minute to spread the word about Marfan Syndrome -- because as often I write about it here and deal with it on a daily basis, the reality is that it is rare and there is still so much unknown about treatments and long term prognosis.  The past 30 years has been so amazing for Marfan research; the treatments Grace is getting today is much more comprehensive compared to what was offered my in-laws for my husband's care at the same age.  It really is amazing what awareness can do!

Marfan Facts (courtesy of National Marfan Foundation, www.marfan.org)
Marfan syndrome is a disorder of the connective tissue and can occur in many different parts of the body. 
Marfan syndrome features are most often found in the heart, blood vessels, bones, joints, and eyes. Sometimes the lungs and skin are also affected.

About 1 in 5,000 people have Marfan syndrome. This includes men and women of all races and ethnic groups. It affects two of the four people living in my house.

When one parent has Marfan syndrome, each child born has a 50% chance of being affected by the disorder, regardless of the sex of the child or the affected parent. Hubby and Grace has confirmed diagnosis of Marfan Syndrome; we have not yet tested the baby.

My family is affected in eyes, heart, skeleton, and joints.  We monitor Grace's growth with her family doctor and take an annual road trip to Baltimore, MD to visit the John Hopkins Comprehensive Marfan Center, an AMAZING group of genetic counselors and doctors totally focused on this rare disease.  Hubby was diagnosed there over 30 years ago and we are so lucky to be able to take him and Grace there every year for appointments with some of the world's experts on Marfan Syndrome.

Surgeries have been another reality for us; the Hubby and I have been married 8 1/2 years and we have, together, gotten through 8 surgeries for his eyes and his aorta.  There is at least one more in the near future but we take things day by day and will just follow doc's orders on when that will happen.  Even a simple surgery, one that is done dozens of times per day on an out-patient basis, can be so much more difficult with a Marfan patient -- remember this summer? 

At Grace's age, her friends are going to soccer practice and basketball camp and learning how to play softball.  She cannot do that.  Every time a flyer comes home from school with the sign up information, I have to tell her no. It breaks my heart a little more each time. Contact sports and exercise that brings you to exhaustion just are not recommended for Marfan patients.  What she is good at is music -- her long Marfan fingers are perfect for piano and guitar.  So this year, that is the goal -- get her playing!!!

Marfan affects every thing we do, and don't do.  But we also refuse to allow it the limit our love, life, and family.  It's part of our every day life.  And for the rest of my life, I will fight to make others aware of Marfan Syndrome and will make sure that my husband and children have the best care possible at all times, no matter how far we have to travel to get there.

Rare Disease Day is only one day a year but for us, it's every day of the year.

1 comment:

Maya said...

Great post! We have definitely come a long way, but still so much more can be done. Love your last line too.