The story of Mike
I have a soon-to-be 16-year old son who finally got a genetic diagnosis this year: Smith-Kingsmore syndrome! There aren’t very many people who have had this diagnosis as of yet, but we are certain as more people are tested with Whole Exome Sequencing, or other such tests, that more people will be found.
It’s been an exciting few months for us, we’ve now met online other families with children with the condition, and are able to share information with each other, and just listen to each other. In addition to meeting other families, we’ve also now launched a website to share information about the condition, https://smithkingsmore.org. And we have been in contact with doctors and researchers to learn more about potential treatments. We hope the website will also help us to locate more families of persons with Smith-Kingsmore syndrome, so we can help each other.
Maybe it’s strange, but we are definitely excited for our son to have been diagnosed with a rare disease after all this time!