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  • TBC1D24

Hypotonia and Standing - Lilly's story

We grieved the different diagnoses, first deafness, next seizures, then hypotonia, and finally Tbc1d24 as the responsible gene which brought global developmental delays.

Looking at our amazing curly haired, smiley baby we thought ‘ok, what next?, how do we help her?’ The answer was specialists, and tests, and lots of medicine trials. It was also hospital stays and then the recommendation for Early Intervention.

She pulled to stand up for the first time at Disney and we started to believe in the magic. They do promise that when you hand over your credit card.

From there we were ready for her to walk. She was not, not yet, and still hasn’t.

After a few months of her pulling up and starting to cruise her baby gates, our amazing physical therapist suggested looking into ‘Sure Steps’ and possibly a gaiter. She was getting up and moving, but wouldn’t hold her feet correctly, or would lock her knees for stabilization.

For as much as I’d embraced her therapies, and educated the people in our lives, and told everyone with pity in their words to take their comments elsewhere, I balked. Something inside me resisted, all the ‘OKs’ we gave for all the treatments and trials and this was my line in the sand? I realized it was completely irrational, but I didn’t want my baby to wear braces.

Was it because then people would know? That didn’t make sense; while she is beautiful with bright, smart eyes, she wears a cochlear implant and a hearing aid. Those are pretty obvious indicators that she’s different.

The PT kept bringing it up and recommended Doctors. In hindsight, she was advocating for my daughter when something in me couldn’t.

My husband, an amazing human, asked me why the appointment wasn’t made and then laughed at me a little when I resisted. He didn’t realize I was serious at first.

I had convinced him the second lumbar puncture (spinal tap) was necessary but this wasn’t? I explained it to him my concerns and we both knew it didn’t make sense. He respected my thoughts but, for our daughter, pushed ahead while assuring me this was just another step.

When the time came for measurements and fittings our daughter continued to be the best sport. When the orthopedist put the Sure Steps on for the first time, she took it in stride (literally) without missing a beat. She didn’t fuss with them, just stood up. After just a few days her feet looked better and she was bending her knees. She was bending to pick things up, bending to push up to stand (as opposed to using her brute force to pull up). These don’t sound like milestones never mind a thing most families think about- but for us they were big!

I felt so ridiculous and embarrassed for my previous hesitation. Thankfully my family didn’t let me stay in that headspace too long - after all we have more work to do!

I’m forever grateful

for our supportive family, friends, and community who continue to embrace our normal, and get us through the big, small and sometimes irrational steps.

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