Our son Eli wants to be a scientist when he grows up. Kids often change their minds but our ten year old really means it.

His life has been shaped by scientists, especially the ones at CHEO. Thanks to the amazing work of Dr. Boycott and her research team, Eli has the support needed to follow his dreams. As a donor, you unknowingly support families like mine.

Eli came into this world quickly. I had a normal pregnancy then a fast delivery. It was evident right away that something wasn’t right. Our son was taken to the neonatal intensive care unit and stayed there for 10 days. It was unclear the reason for his distress. He wasn’t breathing properly and it was suspected he had pneumonia. He was intubated and ventilated on his first day in this world. It was a very scary time for us.

Looking back now, we have reasons for the struggles he’s faced his whole life.

At age one, we noticed Eli wasn’t hitting his milestones. Our very dear family doctor recognized that there might be a neurological reason and recommended we go to CHEO.

For the next 10 years we followed a winding path through CHEO. We have gone through multiple departments and numerous tests. Eli presented as having global developmental delay but we did not have a definitive diagnosis, we just knew that he was not progressing like other children his age. He was very late learning to walk and talk. He started Kindergarten barely speaking. Eli underwent MRIs and EEGs to see if there was brain damage, a tethered cord or even cerebral palsy as the cause. All his tests came back normal.

It’s a hard journey when your child doesn’t have a name for their condition. It makes planning and organizing their care a full time job. Eli has seen so many specialists to help him progress including speech language pathologists, occupational therapists, orthopedists, neurologists and physiotherapists to name a few. It’s a long list.

Thankfully we were eventually sent to genetics where we met Dr. Boycott when Eli was three years old. She tested for the obvious things but everything came back negative. But Dr. Boycott refused to give up. She and Eli are alike in their determination. She wanted to get to the root of the cause. She also took my husband’s conditions into consideration.

You see, my husband Richard has lived his life with a mild form of cerebral palsy and asthma – or so he thought.

Thanks to Dr. Boycott our family now has answers. Because Eli has had many tests over the years and still did not have a diagnosis we were eligible for exome sequencing which involved taking blood samples from Richard, Eli and me and having all of our 20,000 genes sequenced and compared. We waited many months and assumed once again there would be questions.

We had gotten used to this unknown and lonely path. We deal with his condition and help him progress as much as possible. It’s hard to access or coordinate services when you can’t name a disease.

Then the call came and Dr. Boycott asked us to come to CHEO. After testing 20,000 genes we were told that Eli has a rare condition called brain-lung-thyroid syndrome. I could breathe deeply for the first time.

This is a movement disorder associated with breathing problems and often low thyroid function because of a mutation in the NKX2-1 gene. It is thought to only affect one in 500,000 people but there are probably more who just haven’t been diagnosed yet because they don’t have access to exome sequencing.

Having this diagnosis is not only helping Eli, it’s helping my husband as well. Richard now has an accurate diagnosis and with that, a neurologist and respirologist who are making a difference in his life.

All the pieces came together. It explained Eli’s neonatal distress, the hard time he had breathing as an infant and why he still has lung issues.

Best of all, we now have a treatment plan. We have access to specialists who can help and they work as a team. Eli’s respirologist was able to make a medication change and now, in Eli’s words, “I can run a lot faster without feeling like my lungs are going to explode.”

A diagnosis opens doors. It does not mean Eli’s life is easier but we can maneuver with confidence now. Currently Eli has a difficult time gripping a pencil and doing homework takes longer than most. But we work with him and this young boy is determined. We love that about him.

Eli is compassionate and even won a love award at school. He has a new confidence since his diagnosis. He knows he is different but it makes him feel good to put a name to the symptoms. He says, “I know what it does to me and how it affects parts of my body.”

Eli is an advocate for himself and will continue to be. He is already fundraising for CHEO. In lieu of presents he asked friends to give money to CHEO for his tenth birthday. He wants the scientists to have money to learn more about his condition. His father and I think that’s a fair request. Please help Eli in his mission to raise funds for rare disease research. Your donation matters and will help families find answers.

Sincerely,

Judy Lincoln

(Richard, Eli and Thomas too!)

P.S. Please consider becoming a monthly donor. Your gift will help CHEO patients each and every day.

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