Kailey’s Story of Hope

by Kailey Reichardt

Hope

Science Fiction.  That is what it seems like.  Unbelievable, amazing, incredible….that is how everyone describes it now.  But it was not always this way, and it was not always easy.  For nine years it was hard, really really hard.  This is my real life story, the story of my sister and me.  It is not made up, but it sounds like it could be. 

My sister was born healthy, but was not “normal”.  The doctors said she was blind, and would most likely not ever walk, talk or see.  They said she had cerebral palsy, and that her future would be hard.  I was only three years old when she was born.  Now I am thirteen.  A lot has happened in these last ten years. 

My mom is an optometrist, and she knew right when my sister was born that her eyes didn’t work right.  I wanted to be an eye doctor when I grow up.  My plans have now changed as my sisters life evolved.

Doctors appointments, therapies, specialists…that’s what I did with my sister.  That is what we did as a family, as we all wanted her to get better.  I hoped more than anything she’d prove the doctors wrong.  Late, everything was late for her.  But she pushed through and was soon saying words and running.  My sister was legally blind.  She couldn’t see my face or play with me like other sisters.  She always looked up at the light. She couldn’t see well enough to keep attention on things.

My sister had many diagnosis that kept changing for her eyes.  They called it ocular albinism, then congenital stationary night blindness and lots of other things.  My mom kept saying it wasn’t correct.  She was always reading and researching.  Here is where it gets amazing.

My mom insisted they do a full genetic work up for my sister at an appointment, and this doctor listened.  She told my mom it would take a long time to get results, and insurance may not cover it, and it is very expensive.  I remember that appointment, us all sitting in the room with my sister staring up at the lights.  She was eight then, and I was ten.  I remember thinking my mom was either smart, or would cost us a ton of money.  They came in and did a cheek swab on my sister.  She was not impressed.  Then we waited, and I hoped for the best.

Almost a year later they needed more data.  They needed a cheek swab from both of my parents.  Finally my mom got a phone call that she and my dad needed to see the pediatric geneticist for the diagnosis.  I wanted to go too, but was in school.  I was scared, so scared to hear what they learned.

When I got home from school a big name was told to me.   “Honey, your sister has something very rare called Leber Congenital Amarosis RPE65, which can make her loose all of her vision.” My mom said to me.  She said that now that we know what she really has there is more hope.  I didn’t want my sister to be in the dark when she is a teenager. It’s not fair.  I was sad, I heard my parents cry, so I knew they were sad too.

Hope, there is always hope.  My mom researched and learned that there were clinical trials in Europe for the exact type of LCA my sister has!  In the trials kids have got vision back.  Only a few months after my sister was diagnosed, we got the call saying the FDA approved the gene therapy and it will soon be available. 

At my sixth grade promotion, my mom ran out right before my name was called.  What could be that important?  My mom was crying and hugging my dad. My parents told me they were so proud of me for doing so well in school and for my promotion.  They also told me my sister’s surgery was going to be in a few days and we would be spending the summer in California, at the Children’s Hospital.

Summer 2018.  This is crazy.  I helped my sister get into her hospital pajamas.  They had tigers all over them and were big on her.  I was scared stiff as my parents left me and and they went to put her under anesthesia.  It was the longest 4 hours of my life, when the surgery was happening.  They said they put in a new gene, and new liquid in her eye.  It would help her see much better and not loose future vision.  It will change her life.  She was the first girl in the United States to get this surgery.  I hoped it would turn out well.  She went back a week later for the second eye surgery.

A month later my sister could see!  She was talking about everything.  “What’s that?” she would ask, as she pointed.  She was so happy.  The process was hard.  She was on steroids so her body would accept the gene, and I told my dad I thought she lost her mind.  She ate a lot of beans.  She was super hyper.  But she could see.  One of the last trips to the hospital before coming home she pointed across the road and read “call your mom” on a sign.  It was magical.  When she held my face and said “I see your eyes, what color are your eyes? Blue.” to me I was overjoyed.  She laughed so hard when she saw her shadow.  She can now see the moon and clouds.  She is starting to read print instead of Braille.  Every day with her is a miracle.  Her future is different, and so is mine.  I want to be an Ophthalmologist and do surgery.  I want to change lives, like they changed hers and my families.  I want to give kids sight.  Hope, it all started with hope.