Sunday, 28 February 2016

Rare Disease Day: Alicia and RTS

For part two, we're lucky to have a guest blogger! Thanks to Alicia for sharing about having a child with a rare disease. (For part one, see yesterday's post).

"Happy Rare Disease day! My family is all too familiar to this day because my 3 year old son, Anderson has a rare syndrome called Rubinstein Taybi Syndrome (RTS). The occurrence of RTS is 1 in 125 000 - 300 000 and for 90% of individuals with RTS, the genes associated are written wrong. However, in my son’s case, and for the other 10% of the RTS population, he is completely missing the RTS gene making him rarer than one in a million. That makes us genetic lottery winners. 

There's this stare that happens whenever I tell people of my son's syndrome. Anyone who has a loved one with a rare disease has experienced the blank stare. No one knows what to say. It's much worse when it comes to situations, like I experienced last night, when I brought my feverish, snotty child to an after hours clinic and told the doctor his syndrome, to meet the blank stare. I don’t expect every physician to know about this rare disease but it is a little nerve wracking to see that face then have them prescribe medications that they think will be best for Anderson. 

We try to avoid after hours clinics for this reason but it’s sometimes unavoidable. I find myself having to become the educator. I’ve learnt to be brief and only discuss what is necessary for that moment. I direct his care from explaining his anatomic differences that contribute to his symptoms, to the usual progression of illness, to the drugs that work and do not in this situation. Sometimes the doctors look like they are going to vomit because they don’t know anything about this disease I just enlightened them with. This is followed by them leaving the room to “check medication dosages” but, let's be real, they are googling his syndrome. We have left the room before and seen it on the desktop. This actually gives me a bit of comfort, at least they are doing their homework. 

With something so rare, there isn’t much research to guide his care. The research that does exist is dated and standards of care vary from country to country. We have tried google but that can be very scary. Have you ever googled a car crash? It never pops up as the cutest little fender bender you have ever seen, it’s always the fatal crashes Google chooses to show you. The same theory goes when googling RTS or any medical conditions. Therefore, we rely heavily on our RTS support group through Facebook. Any questions that arises, we ask the hundreds of families and get responses from around the world. Without social networking we would be lost. Our support group has also given us hope for our future. Research painted us a grim picture. Our RTS family has helped us surpass the research expectations of simply living past one year old and communicating through sign language. 

Having a child with a rare disease has helped us let him set his own pace. He will never follow the public health standard, which is fine by me. RTS is an enormous part of our lives. It has changed us. It has made us patient and excellent at coping with unknowns since that is what we are constantly living. My rare gem has many RTS traits but he is also a son who wants hugs and cuddles. He is a toddler who won’t stop bugging you until you turn on his favourite cartoon. He is an annoying little brother who pulls on his sister’s hair just to laugh at her reaction. He has a sweet tooth like his dad, only wanting feeding therapy when icing is involved. And he doesn’t think twice to wrestle his baby brother when his favourite toy gets ripped out of his hands. He is one of a kind, but aren’t we all? He just helps us frighten doctors more than our other children!"

Thanks Alicia! Learn more about more about RTS here.

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