- Posted April 22, 2014 by
Team iReport featured this story
This iReport is part of an assignment:
Living with a rare disease?
"I Love You"
- dsashin, CNN iReport producer
How do you live your whole life loving someone, never being quite sure if they are ever going to be able to say “I Love You” back?
My little brother Sam Hoffman was the 81st person in the entire world. Let’s just stop here for a minute. He wasn’t the hundredth or the thousandth, oh no, he was the 81st person in the entire world to be diagnosed with a rare neurological disorder known as Succinic Semialdehyde Dehydrogenase Deficiency also known as SSADH. To a lot of people this is just a bunch of really long words that don’t really mean anything, too me my brothers diagnosis would change my life forever.
So what is SSADH like? Over the years I’ve come to explain it as being Autism, Obsessive Compulsive Disorder and Hoarding all bundled into one. This means that the simple tasks like getting a spoon out of the drawer or getting ready for bed became a monumental ordeal. Walking into the grocery store means at least having five people stare at you while your brother flaps his arms, exhales loudly and stands on his tippy toes, clearly this would be out of the ordinary for most people. I’ve become so used to it I simply laugh give him a slight nudge and tell him to “come on”.
It was at the age of 6 months that my parents started to realize something wasn’t quite right. There are certain signs of developmental progress that babies show after a certain amount of time, my brother was starting to miss these developmental windows. My parents decided to take him in to the doctor right around when he turned 1. Doctors were baffled at first not being able to pin down a clear indicator of what was causing my brothers lack of development. They proceeded to do an organic urine screen which is just a broad test to see chemical levels in the body. They then took the results of the test and compared them with the acceptable levels that the body should have. The results came back; for the chemical known as 4-hydrobeutraicacideria an acceptable level falls within the range of 0-2 his was 610. These levels were tested at Childrens Hospital in Milwaukee; however, his doctors didn’t know what to make of the elevated level, so they start sending it around the nation to experts to see if they had any idea what this meant.
Eventually the test results went to Baylor University where Dr. Michael Gibson, PhD, finally diagnosed the problem. We were then told that my brother would never be able to walk or talk and would probably spend his entire life in a wheelchair.
This was crushing news to hear but my parents decided that this was not going to be the verdict that they would accept. He was immediately put into therapy of every kind; speech, occupational, physical, behavioral, you name it he’s done it. A multitude of different medications were tested on him but there was no baseline for the doctors; it was like throwing darts blindfolded. Needless to say the successes of these medications were very hit or miss. Their medication had a clear impact on the progress of my brother. There were medications that completely knocked him out and most of the days he would spend sleeping. However some medications really brought out the ugly side of SSADH. He was constantly upset and agitated, completely disregarding his own personal safety; these were rough years constantly being on pins and needles always concerned for his wellbeing.
Fortunately we never gave up and with a lot of love and support from family and friends my brother is doing great. His medication situation has still got a few kinks in it but it has definitely improved my brother’s condition. He can now ride a two wheeled bike, it wasn’t easy and I received quite a few bumps and scrapes trying to run next to the bike while holding him upright on it but this is quite an accomplishment when you’re told he was going to spend his life in a wheel chair. This last year he has begun job training in the hopes that one day he can live independently. Above all else though he can still get under my skin just like all little brothers do.
Just seeing improvement in Sam’s life wasn’t enough. My family took action, starting a non-profit organization called the SSADH Association to increase awareness and raise money for research. The going was not easy, being as my brother’s disorder is so rare, there was little to no information available for people about SSADH. Over the course of the past 16 years there have been over 400 people diagnosed with SSADH all over the world. The organization has risen close to a million dollars which has all gone directly to research and this number is still growing.
What is the point? Why am I telling you all this? Through everything that has happened to my brother and the impact that his life has had on my own, my brother has become a beacon of hope. Not just for me but for an entire community of people. He is the constant reminder of the good that is in this world. He is that little voice in the back of your head telling you that things are never really that bad. He is hope for people that are told that they can’t do something. He is that example that nothing is impossible.
So how do you live your whole life loving someone, never being quite sure if they are ever going to be able to say “I Love You” back? Simple: I don’t ever need to hear him say it because I feel it. It is constantly there. When he gives me one of his awkward hugs with one hand way to high on my back and the other one tucked at an impossible angle into my side, I know that he loves me and he knows that I love him right back.