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Kaitlyn is a happy and compassionate 13-year-old girl who loves dolls, Harry Potter and all things tropical!

She was diagnosed with Bardet Biedl syndrome at 1 year old, but it was suspected on the 20-week anatomical ultrasound since her older brother had just been diagnosed weeks previously.

With support from KidsAbility Kaitlyn met most of her milestones. Learning to walk was the hardest challenge, but she did so at 2 ½ years old. Her personality really began to show once she gained more independence.

Just before her 4th birthday Kaitlyn was rushed to hospital with tonic-clonic seizures.

Over the next three days, she experienced 18 seizures and went into status epilepticus twice. An EEG a few days later confirmed she had epilepsy. Her fine motor skills regressed and she had forgotten how to write her name, and could no longer recognize letters, numbers or shapes. She was eventually diagnosed with Global Developmental Delay. We moved her into a Life Skills class for school and she was much happier and more supported. We began to see small gains.

Over the next several years Kaitlyn began to experience pain in her legs, joints and abdomen. Her energy level was decreasing and she began choking and having difficulty swallowing. After more tests and genetic sequencing, they found the cause. A mutation of EEF1A2. It’s extremely rare and Kaitlyn is 1 of about 40 known cases. Though there are still lots of uncertainties, having a reason for her struggles helps us and her medical team to support her better. She is our teacher on this journey and we learn every day. Kaitlyn is legally blind and uses a white cane to help her navigate. She has a manual wheelchair that we use for longer distances. Since beginning a new seizure medication we have noticed gains in her mood, energy level and working memory.

Since becoming a Guelph Wish Fund kid last year Kaitlyn has been able to add many new dolls to her collection. She is looking forward to going to Wizarding World of Harry Potter and the American Girl store in Florida when it’s safe to do so.

- Kaitlyn and family

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