Reema

Posted on:

3 years old
New York, New York

Reema was born in New York City, one week after the Covid-19 pandemic shut down, before masks were a thing or loss of taste was a symptom. She was born via c-section after 36 long hours of labor, stuck in my pelvic bone and unable to break free. She was healthy, but would not latch to feed and would gag when we tried to put our fingers or a syringe in her mouth to initiate a suckle. Starting to panic after five days of her taking in only little amounts of formula, the next day she miraculously latched and went on to be the best little breast feeder ever. Little did I know that much of Reema’s development would track similarly—zero to hundred overnight.

I went through hundreds of photographs before sitting down to write this to remind myself of Reema’s infancy, perhaps to see if I missed anything in hindsight (and hopefully provided you all a somewhat amusing selection). I spent many months feeling very guilty about not noticing sooner. But what I discovered is that we took action soon after there was something significant to notice—around 9 months old, something I’ve now realized is a very common time for Syngapians to start falling noticeably behind.

We spent the first six months of her life with my parents in upstate New York and it was an incredible bonding experience for Reema and her grandparents. She had a good appetite, she smiled and connected, she gave a chuckle early, she rolled over on time, and she even started her own little shuffle to move around by 5-months-old. She showed affection and played with us. She slept through the night early on and was a great self-soother. But she was quiet. Very quiet. Even as a newborn, we would only know she was awake and hungry because we would hear little humming murmurs, not loud shrieking cries like her older brother. There were very few instances where she would get audibly upset.

When we introduced solid food around six months old, Reema had an extremely negative reaction to it. Refused, gagged, looked at us like we were torturing her. The pediatrician told us to be patient. But then Reema started daycare around seven months old and refused to drink milk from a bottle or cup, in addition to rejecting solids.

We learned at her 9-month appointment that she had dropped from the 60th percentile in weight at 6 months, to the 10th percentile. I remember sitting in a quiet moment during holiday break, realizing that Reema should be doing much more than she was. She was not yet crawling on all fours, just still doing her little 80’s aerobics workout shuffle. She was not pulling up to stand. She was not babbling. She was not very active or exploratory. I panicked.

So began our journey for answers and my spiral into deep anxiety and depression. As her mother, I was convinced that I had done something wrong. That cocktail I had at the wedding in Miami when I was four months’ pregnant. The failure to take my prenatal vitamins religiously. My insistence to attempt a natural birth after my prior C-section. The list of indictments against me was long. I spent an inordinate amount of time on the internet, on parent boards. Every other day I had a different possible diagnosis: cerebral palsy, hypotonia, sensory processing disorder, lack of primitive reflex integration, autism spectrum disorder, developmental coordination disorder, apraxia of speech. Little did I know that Reema’s actual diagnosis would be a great big ball of a little bit of all the things I had researched.

We referred Reema to Early Intervention for speech and physical therapy. At the time of her initial evaluation, the special educator predicted Reema would qualify for all services. Then on Martin Luther King Jr. weekend, it was like Reema knew she was going to be further assessed. She started crawling and pulling up, and daycare reported that week that she began guzzling milk from her cup and eating multiple servings of food! We were all flabbergasted by the huge and sudden burst.

In the end, Reema only qualified for occupational therapy. The evaluation report was devastating to read. I cried so much after reading it. I had cried the day of the evaluation too, when the woman kept saying, “Wow, she cannot do anything. Wow. Wow.” Today, that experience would not faze me—Write your worst! Get me the services! But then it was heartbreaking. Reema could not hold an object in her hands for long; she had a snazzy way of balancing an object back-and-forth between her two hands to inspect them in an intense way. She could not hold two objects at once. She could not stack blocks or do puzzles. She did not follow a point or directions. She did not functionally play with toys. Why? Why? Why?

Family and friends told me to stop guessing, to give her time, to relax, and not in that demeaning way (most of the time) but out of genuine concern for my well-being. Thankfully our pediatrician was a kind and proactive woman who listened and comforted. She referred us to a neurologist when Reema was a year old. He, however, dismissed all my concerns as unfounded and believed Reema would “catch up” because she made eye contact and smiled. He made me feel like all my concerns were unfounded.

To be sure, my central nervous system was going bananas and my mental health was in the toilet. But I knew that my real observations about Reema’s development was causing my anxiety, not that untreated anxiety was causing me to make faulty observations. One day, a parent on a message board reached out to encourage us to ask for genetic testing. How I described Reema did not seem to squarely fit with autism spectrum disorder. She suggested we ask about Angelman and Rett Syndromes. I had never heard of these genetic disorders before and they certainly seemed like possible explanations.

We pushed the neurologist to refer us to a geneticist. After an appointment and multiple follow-up emails, he finally made the referral (I adoringly refer to myself as a gnat). The geneticist met with Reema and seemed of the same mind as the neurologist (I tried to tell Reema to stop smiling and making eye contact but she wouldn’t listen). So he half-heartedly agreed to order testing and after a fight with insurance that we lost (not “medically necessary”), we paid out-of-pocket for a slightly smaller panel through Ambry. We would later learn how lucky we were. At some point in 2020, this $250 panel had become way more diagnostic and comprehensive – go science! – and we were able to get an answer that just a year earlier would not have been possible without whole exome sequencing or some far more expensive test.

The first message we received on the Monday after New Years in 2022 was, “Good news!!!!! Nothing diagnosable was found.” I remember dropping to my knees sobbing. Pure and total release, relief. Then I received a call a day later saying that they needed to schedule a virtual meeting with us to discuss something. That something turned out to be a missense variant of uncertain significance on Reema’s Syngap1 gene. The geneticist had never heard of SYNGAP1. He read us some sentences off a website. He said that many children with SYNGAP1 had epilepsy, but that Reema was almost 2 years old and had not yet had seizures so that was a good sign (ha!). We sat there staring at the computer screen with more questions than answers. He then told us that Ambry could connect us with an organization called Syngap Research Fund if we’d like. Yes please, absolutely.

Within days we had heard from Jess, Mike, and others, and been loaded with information and hope. We had an answer, something that I’ve learned not all parents get, and a strong community to lean on. We switched medical providers to those with experience with Syngap. We were affirmed that how we had been supporting Reema thus far was exactly what she needed—speech therapy, occupational therapy, physical therapy, and special instruction. We added hippotherapy shortly thereafter, something that Reema loves, and private PROMPT therapy. We got her an AAC device through insurance. We did a 24-hour video EEG that showed abnormal activity, and about two months later repeated the process for 48-hours that showed seizure activity. We found the ketogenic diet. The diagnosis gives us power and information. Our privileges give us the ability to demand or provide everything Reema could need.

I know that these stories are supposed to be about our Syngapian Warriors. But I know that most of the people reading these stories are the caregiver warriors or the supportive community warriors or the medical and scientific warriors. What caregivers go through behind the scenes to make sure that we can share happy, smiling Syngapian faces to accompany these stories is tremendous. Even just getting to a diagnosis is a process riddled with trauma and struggle. I am still in the process of healing from that dark year and a half. Caregivers need to be acknowledged, too. I see you all every day. I see you. I know how much emotional labor goes into what most consider mundane, everyday tasks. You inspire me and make me feel like I am not alone.

Reema is now 3-years-old and a happy and determined toddler. She started walking at 15-month-old like a little zombie and now is much steadier and can even get in a few seconds of a fast-paced trot. Although her weight had reached concerning lows well into her second year, she is back in the 60th percentile in weight after nearly nine months on the ketogenic diet. She sleeps uninterrupted now that her seizures are well-(but not entirely) controlled. She has always been able to communicate her wants despite being non-speaking, and recently has started using her mouth to make noise and her AAC device to speak, adding to her robust repertoire of pointing, leading, using our hands, and eye contact/gaze. She follows one- and some limited two-step directions. She can now carry a full-size guitar to demand a jam session and plays with toys with some limited pretend play. She loves being outside and can play at the playground mostly unsupervised (as long as I’m not there because I am too nervous!). She goes to grocery stores and the library, watches the subway trains, and thinks birds singing are funny. She loves books and letters. She knows that she is the cutest and uses kisses, hugs, and smiles as currency. She works so hard every day and never gives up. She is a warrior and she has cultivated an army of warriors around her ready to fight for her future.