The Day My Daughter With 2 Rare Diagnoses Sat Up on Her Own


When our daughter, E, was born 10 weeks early in July of 2014, the doctors told us to expect many developmental delays and to simply give her time to reach them. However, after each month passed with no progress, nary a roll or a sit, we knew something was amiss.

Then in October 2015, well past her first birthday, we discovered the reason why when we were given two diagnoses: Phelan-McDermid syndrome and a distal 7q duplication.

Suddenly, our girl who we thought just needed more time to hit milestones may now never meet them. Both syndromes are rare and the symptoms are extremely varied, which means there is limited knowledge on what to expect for her future. Each supposed certainty of her life has become a question. Her peers began to walk months ago, yet E couldn’t even sit independently, despite multiple therapy sessions a week.

But today was different.

E pushed herself up to sit — and sat by herself for five seconds. Then she kept doing it. Again. And again. And again. Each time more confident than the last.

And streams of my joyous tears continued to flow. I have almost never seen a sight as beautiful as she was today. Strong. Healthy. Happy. Independent. Proud.

I cannot begin to explain the amount of work she gone through to learn this skill. Every single day for at least a year. Pushing, prodding, positioning. Teaching E how to do something that should be second nature to her. Training her muscles. Every. Single. Day.

Days. Weeks. Months. Discouraging days. Regression. Losing skills we thought she mastered. Watching her try and work so hard. All the while knowing there was an end goal but never knowing if it would actually come.

Yet, there she was. Sitting up across the living room, looking for our faces and waiting for our praise. She looked like she had been doing this for ages. She was raking in the reward of all of those difficult days and her hard work. Beaming. Beautiful.

These days are the days we cling to. The days when comparison isn’t company, when we reap the reward of diligence, when we cry out in jubilation and she sparkles. B and I do, too, for that matter. Sparkling is contagious. We carry these sparkling days to light the path through our dark valleys. They remind us of the good that comes from determination, and there is even more good awaiting us ahead.

Friend, the road we walk may be long and hard, and the steps aren’t always clear. Though your goal may not be in your sights, I must tell you your work and your diligence will not be for nothing. You’re working towards your own radiant, sparkling day. I hope you will soon find that day to cling to and to cast light and hope onto discouraging, difficult times. I believe it would act as a reminder — like a kiss from Jesus — that your path has a purpose and you are meant to shine.

Follow this journey on Living a Life of Rarity.

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