It’s #RareDiseaseDay! Anna Doggett, Contracts Administrator of Quanticate, shares how her family has been impacted by Bohring-Opitz Syndrome, a #RareDisease with only 200 diagnosis worldwide.
Thank you so much, Anna and Quanticate for this amazing video about Bohring-Opitz Syndrome.
Below you find her speech written.
“Hello, I’m Anna and I work at Quanticate! Today we are celebrating Rare Disease Day. My youngest grandson, Ben, has Bohring-Opitz Syndrome (BOS). BOS is an extremely rare condition. To be considered rare, a disease occurs in less than 200,000 individuals in the United States or less than 5 per 10,0000 individuals in the European Union. There have been approximately 200 diagnosed cases of BOS worldwide, with approximately half of those who are sadly no longer with us.
We were told when Ben was diagnosed at the age of 7 months that we should not expect him to live beyond his 2nd birthday – he will be 8 in August! We recently had a newly diagnosed man, who is aged 30!
There is along list of symptoms associated with BOS. Ben cannot sit unaided, cannot talk or walk, but does communicate through pointing at pictures and some sign language, and through school we know that he has learnt his colours, numbers, shapes, animals, etc.
Most of the children suffer with scoliosis, reflux, failure to thrive, growth retardation, craniosynostosis, seizures – the list is very long.
I helped to set up a website – you will be able to find the link attached to this article. There is a wealth of information on there, and this has led to a lot more children and adults being diagnosed.
Sadly there has been very little research into BOS – ironically this is mainly because it is so rare!
On a positive side – these children are extremely happy and teach us so much about life and indeed how to live it – one day at a time!
Quanticate are joining with pharmaceuticals to fight rare diseases!”