Olivia

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6 years old
Michigan

Olivia was born in 2018, as a big happy baby and appeared to be completely healthy. At 2 days old, she had her elbows locked in flexion for long periods of time, making it difficult for me to dress/undress her. I was told it was nothing to worry about, and it stopped after a couple days. Then at 4 months she had torticollis, which we sought physical therapy to address. After a few months, we saw an ENT regarding a mild lip tie, and he noticed a discrepancy in the length of the right side of her jaw compared to the left. He referred us to a reconstructive surgery specialist. It turned out to not be a true length discrepancy, but that the torticollis had pulled her jawbone up. The specialist diagnosed it as a “pseudotumor” within the neck muscle. After further physical therapy and added occupational therapy to assist with the oral tone issues, that came to normalize after several months.

While she was receiving these services, upon their monthly evaluations they were noticing that she was always a little behind on the milestones. No big concern was raised, just those goals were added into her therapies. We ended therapy around 14 months, and at that time she was walking. When she turned 2, she had a few words, but not as many as what was considered ideal. This gap would only widen as she aged. At 3, we knew that she was quite behind in her speech and we began speech therapy. At the time, I thought it was quite possible that her initial issues with oral/neck tone may have impacted her speech. Her muscle tone was also low though, prompting a need to be fitted with SMO custom foot supports.

I also noticed that her joints were very loose. For example, if I walked while holding her hand, her hand might pop out of joint at the wrist. It would then go back into place if I just flexed her wrist. It also happened with her elbow, and once she was stuck briefly in a rotated position in her spine until she could sort of “pop” back into place. While standing, she would often lock her knees and they would curve backwards. Olivia also had irregular sleep patterns. She would not fall asleep until 10:30 or 11:00 at night, despite all of the things we tried. She would also fairly regularly wake up around 1:00-3:00 AM and be awake until 5:00 or 6:00. She still doesn’t fall asleep until late, but her wakings have reduced greatly. (She is now 6 years old.)

When she turned 4, all of these things, combined with her atypical behaviors, prompted the pediatrician to refer us to a neurologist and psychologist for further testing. The psychologist diagnosed her with autism spectrum disorder. The neurologist ordered a few genetic tests, an MRI, and an EEG, but these all turned out negative. She then referred us to a physical medicine doctor for further testing and consultation on her muscle tone issues. The PM&R doctor ordered a few genetic panels- one was for various forms of muscular dystrophy and the other was a cerebral palsy panel. SYNGAP1 was one of the genes listed on the cerebral palsy panel. Initially it came back as “variant of unknown significance” or VUS, and it was recommended by Invitae that we have parent samples tested in order to further identify if this variant was the cause of her issues. Parent tests came back negative, so they re-classified her variant as “pathogenic”. This also means that her variant began in her; it was not passed down to her. Olivia has what’s known as a “missense” variant on the Syngap1 gene. Very simply stated, it could be said that she has a typo on this gene. She has one good gene and one typo gene. That doctor had also ordered a hip x-ray, and it was found that she had bilateral coxa valga of the hips, requiring fitting of “twister cables” to keep her legs in the proper position while walking.

Receiving the diagnosis was hard, knowing that my child was going to have a different life than what I had pictured. It came with a flurry of emotions. It was scary. There was a positive though in the respect that we had found an answer, and when you have an answer you are armed with much more knowledge in how to help your child. Because we had an answer, I was able to connect with the whole SYNGAP1 community. The wealth of scientific information, family support, and general advice that we have gained has been of immeasurable value. We now have hope that Olivia will be able to experience either a cure or treatment of such quality that it is nearly a cure, within her lifetime. If you are reading this as a family member of a newly diagnosed patient, please know that there is hope and there are people here to support you through the journey.