When our son Lee was first diagnosed with Timothy Syndrome (TS) just after his 1st birthday in 2011, my husband and I felt so alone with the diagnosis.
We quickly learned how extremely rare the syndrome is and how little information there was about it. The information on the Internet was very grim as the life expectancy was listed as 2 ½ and children who live past that age have severe autism and other health issues.
I first started working with the SADS (Sudden Arrhythmia Death Syndrome) Foundation after Lee was first diagnosed, as they are the organisation that supports research and awareness around Long QT Syndrome – an electrical issue which can cause Sudden Cardiac Arrest, and one of the issues associated with Timothy Syndrome.
I quickly learned that TS is different than the “regular” Long QT variants. TS is truly a multisystem disorder that affects more than the heart’s electrical system with Long QT.
In August 2015 I co-founded the Timothy Syndrome Alliance with Courtney Waller – another TS mother – and Katherine Timothy, the researcher for whom the condition is named. We wanted to have a separate organisation to support the issues that are associated with TS in addition to what the SADS Foundation was already doing with Long QT.
Timothy Syndrome causes many complications in addition to Long QT, from developmental delays, pulmonary issues, weakened immune systems, dental issues, GI concerns as well as hypoglycemia and numerous other problems.
The main reason we started TSA was to bring more awareness to the condition and to find better ways of supporting families who were affected by Timothy Syndrome.
Prior to co-founding TSA, I had started a private Facebook support group for families dealing with Timothy Syndrome. I’ve been able to virtually meet over 50 families who have been affected by Timothy Syndrome (some children are still living and others like Lee have passed away from complications associated with the syndrome).
Since 2016, TSA has been able to provide scholarships for families to travel and come together to meet in person at the annual SADS Conference. We hold a Timothy Syndrome session for these families where experts come to talk to us and listen to us. This is something we will continue doing each year.
It is so important to meet other families face to face and know that you aren’t alone in dealing with such a rare and complicated syndrome.
Just 3 months after we formally founded TSA, our son Lee passed away due to complications with the syndrome. At only 5 ½ years old, Lee experienced severe hypoglycemic seizures after being sent home from school with a bad cold and a fever. The seizures caused his heart to stop which caused a loss of oxygen to his brain.
On 24 November 2015, we said goodbye to our SuperLee. At that point I knew TSA was the way I was going to keep Lee’s light shining bright on earth. Through TSA we are able to help others and bring more awareness and support to Timothy Syndrome.