Simon was finally diagnosed with the genetic condition Bardet Biedl syndrome by his eye specialist at the age of 3. Simon has short stature, mild development delay, retinitis pigmentosa, asthma, sleep apnea, heart abnormality and cardiac murmur, tongue-tie, abnormal eye movement, Duane’s syndrome, night blindness, no side vision and epilepsy.
I have been told he is one of two people with the syndrome to have his heart positioned on the right side of his chest. Simon has not gain a lot of weight nor has he had kidney problems as of yet, but unwell from time to time. He is night-blind and has no side vision. Simon has a lot of people who work with him from time to time, like the local General practitioner, eye specialist, pediatrician, ear nose throat specialist, speech specialist, and vision worker’s. Therefore, as you read Simon is like most other people with the syndrome, but to his family he is just a loving little loud boy.
Simon attends a local school with his sister and just loves it to the rest of the school he is know and liked by all. When people meet Simon they just fall in love him and people seem accepting even though he is very loud.
Most people who know Simon would not know about his syndrome, as he looks just like everyone else and does the same as everyone else and most people don’t know Simon has a syndrome. Simon has a thing in life be happy smile and have fun. Therefore, with Simons big smile and special heart people just seem to love with him.
Thank you for reading my sons story as Simon has a special heart that has more love to give than the world can take. Simon has touched so many hearts in his 8 years. He is one special boy to me. If only he knew that on my days when I don’t know what to do next or just want to cry I look at him and all is right, as he only knows one thing and that is how to make people happy, my special boy.
I have discovered more about BBS through the internet. I have found that not many people know a lot about this syndrome and I was hoping someone out there might help change all that.
I know of about 15 others in Australia and many in the UK.
I would like to get to know others and how they where told about BBS. Generally, due to the rareness of this syndrome, not a lot of medical practitioners have encountered someone living with BBS. Through this story, I am hoping to let others know about BBS. I would one day like to meet face to face with someone living with BBS. So please help if you can, not just me and my son but all the families living with BBS. Thank you with all my heart.
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