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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.
When Connor was born in 1993, Timothy syndrome did not exist. He came 5 weeks early through emergency c-section with webbed fingers and toes and a very prolonged QT interval. We had no idea what that meant and – at the time – neither did most of his doctors.
As time went on, he developed other medical issues and educational challenges, including an immune deficiency, kidney reflux, episodes of hypoglycemia and Asperger’s syndrome.
It was a very difficult time in our lives, not having answers or a support system. But Timothy syndrome did not define Connor and it did not define our life with him.
Every challenge it brought showed us his resilience and zest for life.
He made us laugh and had the best mischievous smile. He was incredibly smart, sometimes too smart for his own good.
We felt it was important to provide Connor with as much normalcy as possible and let him just be a kid. We did not want our days to be filled with fear and sadness, although there were plenty of those moments as well.
But then in 1999, the unthinkable happened and Connor passed away after complications from general anesthesia. It was devastating and had an enormous impact on our lives, but could never eclipse all the wonderful moments we were blessed with having him as our son.
It is so amazing to see the progress that has been made in the last 15 years since the gene discovery. We now have a community of families, researchers and medical professionals that provide enormous support for each other.
I am ever hopeful that through these individuals there will one day be a treatment, if not a cure, for the children living with TS and Long QT 8.
We picked the name Bearon to give our son a name that means “Young Warrior”, with the plan to nickname him Bear.
My husband and I had so many dreams for him and spent our nights lying in bed chatting about what it would be like having a boy. All signs pointed to a very healthy baby boy.
When Bear came out screaming and the doctor put him straight on my chest, I cried tears of joy. The first thing I remember doing was grabbing his hand to count his fingers and toes – a ritual I did with my firstborn daughter as well.
But Bear’s middle, ring and pinky fingers would not separate and I actually thought they were stuck together because he had not yet been cleaned. That’s when the whole vibe in the room changed.
My husband and I were devastated to see that both hands and feet had the same deformities and had a rush of anxiety thinking of what else might be wrong.
The doctors examined Bear and relief flooded over me hearing the words, “He is completely healthy and it’s only a cosmetic issue.”
I felt so protective of Bear, thinking it would be hard for others to see past his hands, and spent the next months finding comfort in the affirmation of how healthy I was told he is.
Bear quickly grew to be a huge baby and was so content that I thought he was just lazy when it came to physical developments. After 8 easy months with Bear, I dreaded the looming hand surgery that would subject him to have both hands and arms fully casted for 3 weeks.
A group of women that I did a bible study with had our last meeting right before the first surgery. We discussed the hymnal ‘Abide with Me’ and I bawled that night, which was unusual because I’m not much of a crier.
I told them that I felt the sting of death when thinking about the surgery and I didn’t know why, since Bear’s surgery was just an outpatient surgery with very low risk.
Well, it soon made sense. Bear’s first surgery was December 9th and he had anesthesia complications. We were referred to an electrophysiologist who delivered the devastating news that our son has an extremely rare disease called Timothy syndrome with a life expectancy of 2.5 years.
The next months were so hard with more surgeries and emergency hospitalisations that I asked God to take his life early before I would get too attached and before his big sister would be able to remember him and the tragedy.
Bear is now 4.5 years old and I can’t imagine life without my young warrior. I wouldn’t change a thing because the disease has moulded him into the awesome kid he is.
It seems appropriate to end this story with the last thing Bear wants to tell us every night before bed: “Dinosaurs, snakes and squirrels.”
Every parent loves to watch their child fly like a butterfly and discover the world. Although five-year-old Ollie’s variation of CACNA1C means he is developmentally one year old, he plays independently, attends half-days at school, and loves books, especially ones that contain faces.
Read more about Ollie’s story and how he found his variant twin: A Variation of CACNA1C, a Rainbow of Faces, and a Love of Books: Ollie’s Story.
Some families have shared their thoughts on why our support group is so important to them.
Being part of this group has allowed us to receive an automated external defibrillator (AED), which saved Aurora’s life when she went into tachycardia at home at age 2.
We learned about magnesium oxide from a member of the group, which has greatly improved Aurora’s quality of life in dealing with chronic constipation.
Another family in the group taught us about hypoglycemia, which has assisted us in being able to save Aurora’s life on multiple occasions.
We found this group after 12 years. I finally feel like we have a community where we really belong!
We didn’t find this group until our daughter was 5 years old and we were struggling to learn anything about our her condition.
Finding a group of people going through the same thing as us was life changing. It made us talk about her condition to anyone and everyone – to not be ashamed or scared.
The group changed our outlook on her life and we weren’t as scared anymore.
We joined this group after finding out my husband carries the CACNA1C gene mutation while searching for a diagnosis for our oldest son. When we learned more about this gene we came across Timothy syndrome and it explained our daughter’s symptoms almost exactly.
Unfortunately, our daughter had passed in her sleep when she was 3 and we were left with no clarification as to why. This group has helped us not feel alone on this journey to seek diagnosis and answers.
On this path to find answers for our son, we have stumbled upon the puzzle piece we didn’t even know existed. “It takes a village” rings true, and we found ours.
Thank you! I am feeling welcomed, a lot of new information, so much hope… A new world has opened up for us.
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Children with Timothy Syndrome desperately need early diagnosis, treatment and care.
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