Cincinnati Children's Blog

A Mother’s Wish for Kids Who Have Rare Disease

A Mother’s Wish for Kids Who Have Rare Disease
February 28, 2017

Today is “Rare Disease Day.”

“’Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.”   –

Both of my children were born with a “rare disease” called Fragile X Syndrome.  Fragile X Syndrome is caused when the FMR-1 gene turns off and the gene’s protein is not created.  Not having this protein in early development causes most children with Fragile X to have autism or sensory and learning difficulties.

Through the years, our family has learned some valuable life lessons.  One is that advocating for a child with a disability is a marathon and not a sprint.  Another is that one of the most valuable things we can do as parents to help our children is to find (and sometimes help to build) a supportive and accepting community around us.

In honor of this day, I created a wish list for all children (and adults) living with a rare disease.

I wish for you on this day (and every day):

A family who loves you and who is proud of you (and lets you know this), just the way you are.

A friend who plays with you, laughs with you and enjoys being your friend, because of who you are.

A neighbor who waves and says hello to you, looks out for you and who offers to lend a helping hand when you need it.

A teacher who believes that you are a capable learner, understands why an education is so incredibly important for you, and who tries as much as possible to teach you in the classroom with your typical classmates, even if you learn differently.

A doctor who speaks directly to you (and not about you), smiles a lot and is patient, and knows your first name.

A dentist who lets you take your time getting used to the dentist office, lets you practice sitting in and going up and down on the dental chair before having your teeth cleaned or for a check-up, and lets you practice as many times as you need.

A hair dresser who is non-judgmental, matter of fact, and who can cut your hair rather quickly if needed and still do a great job.

An elected local, state and national representative, who knows and cares about all of their constituents, especially the most vulnerable ones – the 1 in 10 Americans who live with a rare disease (half of whom are children) – and who understands the importance of good public policy and funding in areas like healthcare, education and research because they know just how disproportionately these areas will impact you and your family.

A future employer, within your community, who will hire you some day, pay you a competitive salary for a job well done that you can do, and who provides you with a good supervisor who knows how to provide the accommodations you need to be successful and offer you advancement opportunities, should you seek them.

But most of all, on this day, and each and every day, I wish that every person who you may meet knows and understands that you are a valuable human being.  A person and a member of our community who deserves respect and deserves to live a happy, purposeful and productive life just like everyone else. 

Editor’s note: Sara is a member of our Champions Program, which offers our patients and families a variety of opportunities to share their story with the community.

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