Gen Y Speaks: How I discovered my youngest child has a rare disease inhibiting her growth and what it means

My third pregnancy was not as smooth as my first two.
At 28 weeks, we received news that Sonia had intrauterine growth restriction (IUGR). Something was obstructing the nourishment she was meant to receive and could potentially obstruct blood flow to her brain. Her birth was also likely to be induced prematurely. 
But my doctor’s hope was that she would make it to full term with mature lungs. She wanted to do a C-section to get Sonia out once she hit the 37-week mark.
The rest of the pregnancy from there on was wrought with tension. I had to monitor Sonia’s movements throughout the day to make sure she was still alive. We had to look for a nanny to prepare for a C-section. 
At the same time, we also had two other young children to care for.
Along the way, a few more scares were added to the mix. 
Sonia’s weight dropped from the 10th percentile to the fifth; her blood flow was decreasing; and at the 32-week mark I was put on bed rest after false labour.
I had to start medications to slow down contractions, lower my blood pressure, and delay labour. I took four steroid shots over the next three days to prepare Sonia’s lung’s for premature birth.
Suffice to say, our plate was very full.
Everything around us was messy and uncertain, and we had no assurance of any particular outcome. Still, we didn’t feel overwhelmed with worry or fear about Sonia. Our faith told us God was very in control of all the moving parts; whatever the outcome, we would make it through.
Two weeks later, we got the miraculous update that Sonia was no longer a critical case: her growth percentile was up, and blood flow to her brain was fine. Things seemed back on track.
On May 21, 2021, Sonia was born, weighing in at 2kg. Other than hypothyroidism, a condition commonly related to IUGR, she was given a clean bill of health. 
For the first seven months of her life, she gained weight steadily.
Then for the next one and a half years, she would barely gain a kilogram.
Her paediatrician, who specialises in newborns with low birth weights, was puzzled, especially given she was not my first child and I would know what normal food intake was like, something I reported dutifully. When Sonia missed several of her milestones, we put it down to her being on the smaller side of the curve.
Still, after a while, something seemed amiss, and the doctor began referring us to genetics doctors and nutritionists. Calories, vitamin supplements, and special formula milk were added to her diet. 
No change.
All this was so new to me. Never before had I had to care so much about how much protein and calories my kids were eating. I just fed them “healthy” food and both had simply hit their milestones as per.
We decided to take the genetics blood test that was offered — even though it cost a fortune and there was only a 30 per cent chance of discovering anything at all. 
It was hard to put Sonia through it all. At barely two years old, her hypothyroidism meant she already needed to get her blood drawn every two months. And, being so small, they would never get her veins on the first attempt. Or second. Or third. 
It always took about 45 minutes — pricking, holding her down and then pumping the blood out drop by drop. And nothing made my girl more upset than being held down.
This time was no different; I held her down while they drew three vials of blood, triple what her other test needed. 
The results would come two months later. 
We opted to take the results via a call, after a failed attempt to drive through insane pre-holiday traffic, since we were not really expecting to receive any serious news. 
The clinic called, and my husband was the only one free to take it then; mothering duties meant I would only get an update after the fact.
We learned that night that Sonia has a very new and very rare condition called Rauch Steindl Syndrome. There are only 28 other known cases in the world. 
It is caused by the malfunctioning of the gene responsible for growth. Regardless of what she eats, she doesn’t really grow. It causes hypotonia (low muscle mass), making her far weaker than her peers. There would be ensuing developmental delays. 
The oldest known person with the condition is still alive at 58 years old and, as far as research has shown, the condition is not inherited. Listed as one of the symptoms is IUGR.
After my husband shared the news with me, we sat silently together for what felt like a long time, not quite knowing what to make of things. The randomness of it all. 
Sonia was the child we never quite intended to have — yet, in that moment, we also deeply understood that there was such providence in her being part of our family, rare condition and all.
Sonia means “wisdom”, and she is truly a product of a greater wisdom I am only beginning to discover. Her life and all that she is, feels so specific, so unique, so precise. 
Sonia’s life has been a cycle of unveiling and understanding. And, given how little the world knows of her condition, we are forging where few have tread before. 
But the one thing I do know is that rather than fear of what is to come, I simply feel deeply honoured to be part of her journey and I trust that my good God who lovingly knit her in my womb will see her — and us — through beyond each bend.

ABOUT THE AUTHOR:
Robyn Wong-Niamkongkit, 33, has a background in video production but now runs her own business selling Jesmonite crafts on her Instagram account @somethingbyrobyn_. After marrying her Thai husband, whom she met at university in Australia, the couple moved to Bangkok to start a family. This piece first appeared in The Birthday Book: Unmasking, a collection of 58 essays on the new individual and collective possibilities for Singapore as we emerge from the throes of Covid-19.