processing various sensory components, while some kids have their glass overflowing and are very sensitive to various sensory inputs like certain lights, sounds, and textures. And some kids, like our son Levi, their glass is only half full, and so they are constantly trying to meet their needs by seeking sensory input, so we have worked with her to make goals and a plan to help him.

Lastly, our early intervention specialist (EIS) works with Levi on what is called specialized skills training, or SST, which is a developmental service that teaches age-appropriate life skills to children enrolled in an early childhood intervention (ECI) program. With our EIS, we mainly focus on cognitive and behavioral issues. Currently, we are working on puzzles, attention span, and redirecting disruptive behaviors. Our therapists will only work with Levi for a few more months as he will turn three soon and we will then work to transition to the local school district. But I will forever be grateful for our therapists and early intervention team for the incredible start to life they have given to my son.

DIAGNOSIS

I have to begin by sharing that I am aware that our journey to a diagnosis was shorter and less egregious than the years that many families spend searching for answers, and we were extremely fortunate to receive a diagnosis when Levi was 23 months old. After getting a referral to a neurologist and a geneticist from our pediatrician, we made appointments as soon as possible and we were able to get in to see the neurologist first. He suggested that because of the hypotonia, we start with an MRI to rule out any neurological disorders that could be causing the low tone.

Because our appointment with the geneticist was a few months away, the neurologist would go ahead and order the first round of genetic testing for us to be completed. The MRI did not find anything that could be causing Levi's developmental delays or low tone, so we moved to the genetic testing. We did two rounds of bloodwork, one for a Fragile X test and one for a Chromosome Multiarray test that tested for multiple chromosomal genetic disorders, and both came back negative. I was not discouraged after the results, but I did feel overwhelmed by feelings of being frightened of the unknown and late-night googling of symptoms coming to the worst conclusions and feelings of insecurity and anxiety, thinking, "Is this all in my head? Am I making a big deal out of nothing? Is he just developing at his own rate?"

Nevertheless, we decided to press forward and meet with the geneticist. He was very blunt in his initial evaluation of Levi. He agreed with the hypotonia diagnosis and the almond-shaped eyes and he also said he had a droopy face (which I was not pleased with in the moment, but I know he just taking note of anything visible that could help with his diagnosis). In speaking with him, I mentioned that it was difficult doing the bloodwork and I did not want to poke and prod my son forever. He then made the greatest suggestion to have Levi complete a hypotonia panel of testing that was just a cheek swab. This was an answered prayer for me because my baby would not have to have needles poked in him this round. I was ecstatic!

It took five months for the results to return, but our geneticist called us in May of 2021 and gave us the results of the panel: Levi has a genetic mutation on the KMT2A gene and was diagnosed with a rare genetic disorder called Wiedemann-Steiner Syndrome.

PLEASED TO MEET YOU : WIEDEMANN-STEINER SYNDROME UPCOMING EVENTS

RARE DISEASE DAY 2022 rarediseaseday.org

February 28, 2022 is Rare Disease Day. Rare is Many. Rare is Strong. Rare is Proud. WSS is one of 6,000 rare diseases recognized on Rare Disease Day, which is scheduled for the last day in February each year. The WSS Foundation is sharing our community's stories during the week leading up to Feb. 28. Visit our Life with WSS blog to read about these warriors.

WIEDEMANN-STEINER SYNDROME AWARENESS DAY wssfoundation.org

September 15th, 2022 is International WSS Awareness Day. This day is set aside to help promote awareness in the public and professional communities. Many individuals choose to create online fundraisers, bake sales, make phone calls, wear their WSS t-shirts and participate in many other methods of fundraisers on this special day. To learn about creative ways you can raise funds on WSS Awareness day, please contact the WSS foundation board of directors.

WSS FOUNDATION KIDS TRIATHALON facebook.com/WSSFoundationKidsTri

6th Annual WSS Foundation Kids Triathalon, Summer 2022. Details coming soon.

INTERNATIONAL FAMILY CONFERENCE wssfoundation.org/events

Wiedemann-Steiner Syndrome Foundation International Family Conference, October 2022. The 2022 International WSS Conference will be in Baltimore, MD, in October. Dates are still being finalized. WSS community families and medical professionals from around the world converge to learn and share their knowledge and experiences. The multi-day event features family activities, updates on medical research, the latest therapy techniques and expert presentations to help those diagnosed with WSS to reach their full potential.