EZRA

Meet Ezra! Ezra was born on September 1, 2016. Ezra’s journey began when he was two weeks old. We first noticed some light colored swirls on his legs. When we addressed it with his then pediatrician, he told us it may be a type of birthmark and we should monitor it. Between 4-6 weeks of age, Ezra’s head grew significantly. We also noticed that the swirls were more prominent and were all over his body from his neck down. There were also areas on his lower legs that now had darker skin pigmentations. Ezra’s new pediatrician immediately ordered an ultrasound of his head and referred him to a pediatric dermatologist. The ultrasound showed extra fluid on the exterior portion of his brain, but everything else looked normal. Ezra was diagnosed at that time with macrocephaly (large head). The dermatologist started trying to put things together and shared her concerns with us. She referred us to a pediatric geneticist who suspected Ezra had a type of mosaicism (when a person has two or more genetically different set of cells in their body) based on his skin swirls. We proceeded with genetic testing for Ezra as well as an MRI. By this time Ezra was 3 months old and all of his tests, including the MRI results, came back normal. The geneticist had counseled us on signs of developmental delays, hypotonia (low muscle tone), and seizures (as he was starting to suspect another type of disorder). Ezra was referred to a pediatric neurologist who we saw monthly to track his head growth. Other than the large head, Ezra appeared to have typical development. Around 5 months, we noticed that his head continued to grow off the charts. He struggled with head control and his low muscle tone started to become apparent. We also noticed that Ezra no longer was eye tracking like he used to. He was now referred to a pediatric ophthalmologist for a consultation.

Ezra was 6 months old when he had his first seizure. It is a moment we will never forgot. We were completely heartbroken and fearful for our son. After this happened, Ezra had an electroencephalogram (EEG) and started a second round of genetic testing, which again, all results came back normal. The specialists were at a loss as they lacked a diagnosis for him. Our frustration and worry increased exponentially. Three weeks after his first seizure, Ezra had a second one. His neurologist did a CT scan and had Ezra do another EEG. Those results were all normal. We were told that Ezra was at high risk to have another seizure and if that happened, it was recommended that he should start anti-epileptic medication (AED). Seven weeks later, he had his third seizure. At barely 9 months old, Ezra was started on an AED.

Being a military family, we were in the process of changing duty stations and preparing to make a move across the country two weeks after Ezra started his AED. We knew that shortly after we arrived to our new home, Ezra’s dad would be deployed. It was a difficult and busy time, but we managed to get him set up again with a new team of specialists (pediatric neurologist, geneticist, dermatologist, neuro-ophthalmologist, otolaryngologist, developmental pediatrician) and start early interventional services which included physical and occupational therapies.

In the summer of 2018, Ezra was hospitalized for a week on an epileptic unit and diagnosed with West Syndrome, also known as Infantile Spasms. He was successfully treated for this type of seizure disorder. After this experience we were filled with so many emotions. We wanted to figure out what was going on with Ezra in order to find the best way to help him.

In early 2019, at the encouragement of Ezra’s neurologist, we applied to the Undiagnosed Diseases Network (UDN) to see if we could find a diagnosis. Our application was accepted in April 2019, followed by more genetic testing and screenings. At the end of August 2019, we were contacted by the UDN and informed that Ezra finally had a diagnosis! We learned that Ezra has a very unique form of Mosaic Smith-Kingsmore Syndrome (SKS). At the time of his diagnosis, Ezra was one of five with his specific gene variant.

Since receiving Ezra’s diagnosis, we have been trying to learn about SKS. We were told by the UDN geneticist that there is very little known about this rare disease, and even less known about Ezra’s specific gene variant of SKS with mosaicism. In our process of researching we found a SKS Facebook support group which led us to Cincinnati, OH in October 2019, where we were a part of an Inaugual Smith-Kingsmore Conference. Our lives were again forever changed as we met with other families who had children with SKS. Since finding our new SKS family, our hearts and efforts have been recharged. We plan to continue to push for more research, education and to promote awareness about this very rare disorder. Without a doubt, there are more families out there that have a little Ezra of their own. You are not alone in this journey!

Written by Nazira, Ezra’s mother