Jaedon’s story (born 2002)

Jaedon Alexander Schaefer was born November 12, 2002. Within the first 24 hours it was noted by a genetic specialist that Jaedon did not look like us and he would like to follow up with Jaedon as he became older. No other details were given and we were sent on our way. So, from the beginning, I wondered what it was that this doctor was thinking but would not elaborate. Jaedon was a little slow in the first year, but was meeting the milestones of a child his age.

At 16 months, everything changed forever. Jaedon had a seizure at home and was brought to the hospital via ambulance. He continued to seizure and in the following week, he suffered a total of 70 seizures. A mixture of different medications was tried and a concoction of 3 finally worked to stop the seizures. We were now in a different world, filled with specialists from genetics, neurology, metabolics, cardiology, urology, nephrology, audiology, and ophthalmology. The life of going to a doctor with a typical child’s ailments, always getting answers as to what is wrong, was now changed to “We do not know what is wrong”, followed by test after test.

Over time, Jaedon was diagnosed on the autism spectrum with a functional bicuspid aortic valve and an 80% “working diagnosis” of Coffin-Siris Syndrome (in 2015, blood work for Coffin-Siris came back negative – tests for Nicolaides-Baraitser Syndrome came back positive – finally a complete diagnosis). He has a carnitine deficiency and is on a supplement. Jaedon was subjected to many invasive (but needed) procedures: surgery for undescended testes, bilateral inguinal hernias, a muscle and nerve biopsy, and numerous EEG’s; from all that he tolerated in the first few years of his life, he still has an aversion to being examined at doctors’ appointments.

Jaedon did well with the seizure control for the first year. However, our neurologist decided to wean him off one of his meds – topirimate – as one of the side effects was appetite suppression. He was always tiny (5th percentile) and feeding was difficult at times. Once this was done, the seizures came back in full force. For the next 13 months, he had clusters of seizures every two weeks. Emergency meds would not work. The only thing that worked was the hospital and an IV of phenobarb. Both my husband and myself worked shift work and this became very difficult to continue, as we were also sharing time at the hospital with Jaedon. Every two weeks, we would spend 4 – 7 days in the hospital. Something had to give and I ended my 20 year career with the RCMP to be with Jaedon. We, as a family, now felt rested and had the strength to continue this journey we were on with our little guy.

In my free time, I Googled syndromes, seizures, etc. I then came across a study for heart research at the Emory University in Atlanta. One paragraph stood out: DHA level in people who have seizures is lower than those who do not have seizures. I know it sounds kind of silly but I wondered if fish oil would help to lubricate the circuits in the brain…. I started to give Jaedon 2 tbsp of canned tuna every day. The two week period came up (when he should have been having a seizure) and other than a little restlessness over the baby monitor…there was no seizure. Long story short, he has been seizure free since 2006. I have changed from the tuna to Omega 3-6-9 capsules now, just because of the mercury content in canned tuna. And to any parents who may want to try this, please consult with your doctor first.

When Jaedon was having seizures, we lost our little guy for a few years – as in he no longer played with toys, walked gingerly from carpet to tile surfaces and around things instead of climbing over them. His hands became tactile sensitive and he used his feet to examine things, moving them around like we would with our hands. He was in a little world of his own, not making eye contact and unaware of people around him. He did not acquire speech and remains non-verbal to this day. When the seizures stopped, slowly we started to notice a change. He was coming back to us. I feel his brain needed time to heal from the havoc the seizures caused.

Jaedon is now a big 12 years old! Always making eye contact, laughing, showing us things he wants…the list goes on and we could not be happier. Making contact with others who have children with Nicolaides-Baraitser has been a blessing to our family. We now have answers to our questions that doctors could not supply 11 years ago. To families who are just being diagnosed…be strong…the road you are on will have some tough times, but beautiful times as well that will sweep you up in awe. One of the mothers on this site has called Nicolaides-Baraitser Syndrome “the beautiful syndrome” and it truly is.