Why?

Why am I making public my daughter’s medical findings and her history?

I am in search of a diagnosis.  It may be that my daughter has a new condition, it may be that she has a very rare condition that only a very few people know of and I have not met them, or perhaps she has an unusual form of a more common genetic condition.  She is a mystery at present.  If I broadcast her findings to other – doctors, patients and parents who may have seen a similar condition -- I am more likely to pin down precisely what she has.

Why does a diagnosis matter? 

A definitive diagnosis is very valuable because along with the right diagnosis comes some expectation of what will become, what to expect.  Do problems disappear; do they get better?  Are there some aspects of the condition that require special vigilance?  A diagnosis can also bring along a treatment.  In short, if I know what it is, I know what to expect and I know how to treat.  Without that diagnosis, we are all in the dark.

If my daughter has an new and as yet undescribed condition, a new syndrome, I can only have confidence of that if there are others like her.  Those persons may not have identical findings or have exactly the same clinical course.  But if they have some of the key features and also have similar changes in specific genes, I can have confidence in the diagnosis.  Those new persons with similar histories may be older and from their longer histories, I can then develop a sense of what to expect in my daughter as the years unfold.  I may even be able to help those patients should they come forward if I am successful in identifying a treatment for my daughter.  I might be able to refer them to a specialist who can help them with specific problems.