Getting a Diagnosis

The road to learning about Hadley's rare neuro-genetic disorder.

Hadley is a sweet, silly, funny and adventurous 5 year old. She loves to swim, play with her dollhouse, swing on swings, go down her indoor slide and hang out with her cousins! She is always working hard to learn more!

We noticed things with Hadley right from birth, she was very lax and always sticking out her adorable tongue. Then she was slow to hold her head up and sit on her own, when she started walking at 14 months she was so wobbly and that lasted much longer than we expected so we began working with local early intervention. We then suspected she may be hard of hearing because she wasn't beginning to talk or babble on time. We had hearing tests done, which she ultimately passed.

Next we ran into urinary infections and constipation that required more testing and ultimately daily medication, I attributed some of her delays to having been feeling unwell from the infections. One of her fevers resulted in a febrile seizure, but since they are more typical, it wasn't concerning to doctors. A little time went on and we became concerned with some unusual eye rolling and gazing, so she had multiple full eye exams which resulted in no vision issues. We also saw an orthopedic doctor about her unstable walk and frequent tippy toeing but nothing was too concerning and we moved on again.

When COVID hit she was making slow strides in all areas, nothing seemed alarming, so we just kept watching and waiting. After she turned three we knew it was time for another evaluation so we switched pediatricians and contacted the town for an assessment. She qualified for OT, PT and speech and the specialists echoed our concerns.

We re-contacted our orthopedic doctor and also reached back out to our neurologist again. It was at that time that the orthopedic doctor heard my concerns and really listened. He suggested a genetic consult. Our genetic Dr. was extremely thorough and caring and she agreed that the testing was appropriate. Our neurologist, whom we had met before agreed that it would now be good to set up the EEG and also complete an MRI. The EEG was conducted right before Christmas and Hadley had two seizures during the equipment set up, triggered by hyperventilation, and a few more later in the day prior to us removing the electrical leads. Confirmed epilepsy.

In January of 2022 we got her exome sequencing back from the genetic testing and we were informed of Hadley's Syngap1 Related Disorder diagnosis. We were also fortunate to learn from the amazing Syngap Family support group that Hadley falls into an even more rare subset of deletions, which appears to be why she has a mild case.

Her biggest struggle currently is expressive language and fine motor skills. She is able to talk in small sentences and for that we are incredibly grateful. We are so proud of Hadley! Our focus is now to support Hadley in every way possible and to help work to find treatments for these incredible Syngap1 kids!

Support SRF in Hadley's name with a tax deductible donation at syngap.fund/hopeforhadley

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To learn more about Syngap please visit https://www.syngapresearchfund.org/