» Diagnosis

How a poster helped Debbie discover her brother had CdLS

A dilemma that sometimes faces families with a CdLS member is what do you do if you spot someone else in the community who looks like they have CdLS.

The Foundation in the USA is actively encouraging its membership to help “lost” families by recognising CdLS.

The UK office has been helping one sibling, Deb Bolen, with an enquiry about her 52-year-old brother’s health.

Debbie told us, “I’d like to share a story about my brother with you. We didn’t know that he had CdLS until about six or seven years ago. We always thought it was hypothyroidism and we “thought” he could have been “normal” if he was given thyroid medicine before he was seven months old. (My parents were actually told that some years ago.) So, all those years, we thought his handicap could have been prevented. Then my sister saw a poster that looked just liked my brother. She questioned someone about that poster, wondering why our brother’s picture was on that poster. It was then she was informed about CdLS. We were all in shock when we found out, but after reading about CdLS it all came clear to us. All of the problems that he had were symptoms of the syndrome and we were NOT alone. Thank you again for your help. Hopefully now, my brother will finally get some relief.”

There are many people – particularly adults – who were not correctly diagnosed with CdLS and could be out there with the problems of self injurious behaviour, reflux and other issues that could be resolved if only they are made aware that the condition exists.

It is something that has to be dealt with sensitively but as Deb’s email shows, families really are grateful for the correct information – no matter how late!
 
Reaching Out newsletter
December 2006