It Wasn’t Tonsillitis: How We Finally Discovered Her Rare Disease

By Kathryn Lopiccolo

It all started in August of 2015 when I put her in football when she was only 11-years-old.

About two weeks in, she started her period and after that I took her out of football and two weeks after that her neck got really big I thought it was tonsillitis. I took her to urgent care and the doctor said that she did have tonsillitis so the next morning I called up ear nose and throat doctor to schedule her appointment but because she was a new patient we would have to wait two weeks so this is on the second day after the Urgent Care visit I end up taking her to the emergency room she told me she felt nauseous she felt like she was going to pass out and she couldn’t breathe. I took her in and they told me there was nothing wrong with her they looked at her and said is she on any energy drinks or protein shakes and I heard that over and over and over we left with some antibiotic and went home over the next few weeks before we could make it to an ear nose and throat doctor.

Klippel-Feil SyndromeThe doctor also ordered a CT scan and MRI he said that she was fine, everything was fine. I knew there was something wrong I told them to read the disc over and over again and they didn’t listen to me I took her to three other hospitals after this and still they said that they were they didn’t see anything so I just thought it was all in my head that I that it was me but I still continue to get phone calls from school saying I couldn’t breathe I feel light-headed and going to pass out these were her feelings that she was feeling so I just couldn’t wait anymore I finally took her downtown to DMC Children’s Hospital in Detroit and now this is March 2016 and that’s when we found out the emergency room from one x-ray that her neck was fused and the doctor told us we got back to the hospital for the orthopedic doctor to bring the old this to see what that showed and we did and showed her neck was fused also so when we got into the neurosurgeon in April of 2016 that’s when the doctor told us that she has Klippel-Feil Syndrome they told us that she was born with it but puberty brought the disease out.

I kind of did some research and we found out that she also has a horseshoe kidney she gets headaches her neck back right shoulder right leg right knee all have a lot of pain in it since all this came about her body is changing fast her shoulders big on the right side if for some reason it’s only on the right side of the body that’s changing the left side looks normal but the pain is constantly on and off one minute she’s okay next minute she’s not getting off the couch we can’t walk far like going to museums because she can’t walk far because of the pain in her lower back and her neck so when you please read this story please understand that this disease is not only a fusion of the neck it is more than that there’s pain all the time she can’t do Sports her whole life changed in a blink of an eye and now all we would like is the help us for cure for my daughter and others 2/12/2017