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Our Journey with Achondroplasia and Why I Share It

By Katya Skiba

...Achondroplasia. Dwarfism. These are the words that came into common use in our family suddenly and forever. From the very beginning, I knew I would share our story.

At the end of my pregnancy, during the last scheduled ultrasound, the doctor got confused. As she was looking at the screen, her face was getting more and more worried. Then she took a book from the shelf and started to look carefully into fetal size charts. The baby’s body measurements didn’t match.

They suspected Alisa had a rare genetic condition, a skeletal dysplasia. We had not seen it coming. Neither had the doctors. Here we were: two healthy parents, a smooth pregnancy, and a spontaneous gene mutation.

I’m not going to get into detail about the whole “investigation”. Eventually, having done a bunch of ultrasounds in the hope that the growth delay was just a big mistake, we figured that we’d better get ready to have a really little girl.

So the thrill and excitement got squeezed out by fear and awful pain. We desperately struggled not to build our hopes up, but we did. This struggle never stopped during the last two months. The doctors turned out to be right.

The good news is that, theoretically, this condition does not threaten Alisa’s health and life. There is a visual aspect, of course: short legs and arms, big head, and really low stature. Besides, her motor milestones lag by several months.

However, there is a range of possible complications, such as sleep apnea, ear infections or obesity. Btw, in January, Alisa had spinal stenosis decompressive surgery which I’m happy was diagnosed early (Alisa is 11 months old).

Anyway, we will keep monitoring her health with special attention so that we don’t miss anything and either prevent complications or mitigate their impact. Always keeping our fingers on the pulse is something we should get used to.

I could go on and on about how devastated I was back then. You know all these denial-anger-bargaining-depression-acceptance memes? Now I really know what it’s all about.

It’s like you are suddenly pushed into another reality by a violent gust of wind and get knocked down to the ground.

You wish you could wake up. You don’t understand. You feel helpless. You’re angry. With whom? Just with the life and how things suddenly went terribly wrong. With the doctors who are pretty harsh when delivering the news to you. And every single word would resonate through your body with a ferocious wave of fear, relentlessly destroying all the amazing things that you have felt just recently. You keep asking the universe a million questions but there are no answers.

The agonizing feeling that this is so unfair. But then again, what’s exactly unfair? No one deserves that. But it happens. We are not unique.