Rare Disease Day Stories

In celebration of Rare Disease Day as sponsored by. We are sharing three of the stories we received.  Thank you so much for the families that shared stories with us!

Name: Becky Schluter
Website (if you have one): http://www.aplaceforpaddy.blogspot.com
Your Story: My son Patrick (Paddy)was born at 26 weeks due to my water breaking early.He had a pretty uneventful NICU stay and was completely healthy until the middle of the day one day at 22 months old when one of his eyes started to droop…a week later the other eye started to droop until both eyes were close completely.He has undergone every known test,with no diagnosis though he was misdiagnosed and treated for a year with Myastenia Gravis.It was suspected he had a Congenital Myastenic Syndrome.He does not have any of the known gene variants causing CMS and Congential is from birth and he had no symptoms until 22 months of age.They have since spread and if they spread any farther south he will be unable to breathe and his heart will not be able to beat on it’s own.He has died once already and been on a ventilator 3 times.The blog explains his story in it’s entirety.Washington D.C. NIH is taking Paddy on in their undiagnosed disease program and we’ll be staying there while they run tests to try to get answers for him and other people like him.We’re so excited for a diagnosis but more importantly a prognosis for Paddy.They are our best shot at getting Paddy a diagnosis.Paddy either has an undiscovered disease or undiscovered gene mutation of an already know disease.Getting a diagnosis for him could not only save his life but save the lives of other previously undiagnosed people and people in the future.If he does have an undiscovered gene mutation that they can find they can go back,diagnose other people who have been sick for longer and also give us a prognosis for Paddy to know if his weakness will spread and get worse.This is a chance for medical research and breakthrough that will not just help Paddy and families in the US but,around the world and spare them the hell we have been through the last 2 years.Thank you and God Bless.

Name: Hayes Purdy
Hayes is a five year old boy with a chromosome 6p25.1 deletion and a 7q21.13 duplication. He has a secondary mitochondrial myopathy, epilepsy, hypotonia, anemia, neutropenia, feeding intolerance and fed into his intestines by a J-tube. He has hypogammaglobulinemia and gets monthly IVigG infusions. He also has transient NKH, Aspergers, sensory processing disorder, Asthma, and is in respiratory failure due to inadequate respiratory muscle function. Hayes, though he is a ‘one of a kind’ when it comes to his chromosome aberration, is the sweetest, Happiest, most caring kiddo around. He is home schooled and is doing quite well. Hayes’ GREATEST LOVE is to GOLF and he is an AWESOME GOLFER!!!!! Some day we hope to have some answers and maybe even a cure for some of Hayes’ medical problems, but for now we are learning to dance in the rain and FIND JOY IN THE JOURNEY!!!!

 
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Name: Penny Perez
http://www.wschanginglives.org

Your Story: Keith was born on August 25 at 39 weeks. He weighed 5 lbs, 13 ounces.

As soon as he was born, he was taken to the NICU because he was not breathing on his own. On day three, he was breathing better but they told us something was wrong with his heart. We found out he had a murmur and Pulmonary Stenosis. They referred us to a Cardiologist and we were released after a week. Keith could not feed. He gagged on the bottle, and the formula just ran down his mouth. Keith never slept and screamed if we laid him down. He had to be constantly rocked and was only calm if his body was straight up and down. So, I spent many nights sleeping in the rocking chair.

Sleep is probably an overstatement. There was not much sleep the first two years.
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Keith screamed constantly. There were many ER visits and visits to the Pediatrician. They all told us it was just colic. At the age of twelve months, our Pediatrician said he was officially “delayed” and recommended physical therapy (PT), occupational therapy (OT), and speech therapy. I was absolutely shocked. During those twelve months, I think I had been living in denial as I came up with every excuse why he was missing milestones.

Once I accepted his “delays”, I was on a mission to find out why he wasn’t talking, rolling over, eating or crawling. We took him to a Developmental Pediatrician who could not come to a conclusion, but referred us to a Geneticist when he was 16 months. Within a few minutes, the Geneticist said she highly suspected Keith to have Williams Syndrome. When she brought us information on Williams Syndrome (WS) and showed us pictures of other kids with Williams Syndrome, I knew immediately Keith would be diagnosed with it too.

Williams syndrome is a rare genetic disorder and is the micro-deletion of chromosome 7 and causes multiple medical and developmental issues.

Of course the FISH test came back positive, and I was glad to finally get a diagnosis so at least I knew what the future would hold.

I joined groups and talked to other parents but still felt like we didn’t fit in. Keith was so much more delayed than the other kids. I knew there were variations with WS, but Keith just did not fit the mold. I still knew something else was going on. At age three, we took him to see a physician that specializes in Williams Syndrome and she confirmed that Keith was also on the Autism Spectrum. That was my fear. We also discovered Keith had high blood pressure and unbelievable bouts of anxiety. He was hitting himself in the face and screamed non-stop – again. We got his blood pressure regulated with medication and also put him on anxiety medication.

Last year when Keith turned eight, I took him to Wisconsin to see a Williams Syndrome specialist again, and as I suspected, was diagnosed with full-blown Autism, rather than Autism Spectrum. Only 8% of children with Williams Syndrome are on the Autism Spectrum and even fewer develop full Autism. In addition to the rare diagnosis of Williams syndrome, we now had a dual diagnosis. This explained why Keith is unable to talk in sentences, has poor eye contact and is fixated more than most. With our biggest battles being anxiety and blood pressure, Keith is on three different blood pressure medications and three medication for his Reflux and Gastroparesis.

It’s been a long road. Developmentally, Keith is about age three, and still does not have reciprocal conversational skills. We are not sure if he ever will.

Keith is in the 3rd grade and is in a special needs classroom. He loves school and loves all of his school friends. We do have hope that he will continue to make developmental progress and that we can continue to manage his medical issues.

For more information about Williams syndrome, visit www.wschanginglives.org