What Rare Disease Day Looks Like to Me

Today is Rare Disease Day all around the world.  I never thought in a million years that this day would have any more significance than any other day, until this year when our daughter was diagnosed with a rare disease.  This is what Rare Disease Day looks like to me.

Rare Disease Day looks like my daughter Emily.  On the outside, you can not see her disease.  She is a beautiful girl, with a talent for volleyball and acting.  She will slide into a row of chairs and dig on the court to save a ball like no one’s business!  She will stand for hours acting and delivering her lines like a true actress even though she may be in pain. The show or the game must go on!  So on the outside, you wouldn’t know she has a disease that may eventually stop her from playing the sport she so passionately loves.  But she tries hard not to let it stop her from living a “normal” life. 

Emily’s story stared when she was 8 years old.  She had been a pretty normal kid up to that point, with the exception of already living with asthma and reflux.  She began taking gymnastics and loved it.  We had always teased her about her flexibility and joked with her that we were going to sell her to the Russian circus as a contortionist!  She can bend like crazy!  She was great at gymnastics and they even asked her to be on their competition team.  Then she sprained her ankle one day and just couldn’t seem to get over it; so we got her ankle braces to wear.  They helped a little, but eventually not at all.

As time went on, her ankles kept hurting.  She would have bruises all the way around her ankles and they would swell turn pink and get very warm.  We thought at first she was just re-spraining them.  Then her knees started to hurting and we thought growing pains.  After all, she was getting really tall.  This went on for a couple of years and we would go back and forth with ice packs, heat, Tylenol and doctor visits.  Most people told me it was growing pains.  Friends told me I was making something out of nothing, but the pain grew worse.  In my gut I knew something wasn’t right. She couldn’t enjoy the things she loved due to the pain.

Thankfully, our orthopedist had an MRI done, and we were sent to Duke Children’s Hospital.  After going there for a year, we got a name!  The doctor, nurses and staff all celebrated with us.  A name!  It means so much when you finally have something to work with.  That name was Ehlers-Danlos Hypermobility Syndrome.  A big name that means she has a genetic connective tissue disease that effects the collagen, ligaments, tendons, muscles, skin and organs.  Pretty much everything! 

Now we are learning what it’s like to live with a rare disease.  It isn’t easy.  But it could always be worse.  Most of the time she is a normal teenager.   She plays volleyball, which I know could be damaging.  She has already dislocated her shoulder three times this year!  But she has to have something to look back on and say, “I loved doing this and I was good at it.” when she gets older.  She will determine when it’s time to stop and not me.  She hangs out with her friends; at least the ones that don’t look at her disease, but the ones that look at her.  She may pay for it the next day with swollen ankles, joints that hurt no matter what we do, and with pain medicine that feels like it’s not working some days.  But at least she had a smile on her face and got to forget for a time that she has a disease.

Some days, it’s just overwhelming for her; she doesn’t understand why she has this disease.  Days when she’s just sick and tired of being sick and tired.  Days when she doesn’t want to take her medicine because she’s sick of taking medicine.  Days when she just wants to be normal, no diseases anymore. No asthma, no reflux, no EDS!

It breaks a mother’s heart to know that your child has a disease; any disease or illness or injury.  But to know that you’re one out of 5,000 or 20,000 or even more is a little overwhelming.  Some days you feel it’s more than you want to deal with.  But, thank God for Him.  I know that He will see her and us through this.  He has a plan and this could always be worse.  This disease could always be worse.  So we pray and thank God and we pray for a cure as we and thousands of others pray that no more children will have to live with a rare disease.