by Marlene Soto-Riera
RARE Parent, Caregiver & Advocate
My son Aj was born with multiple medical conditions, facial anomalies, an extra thumb, and more. After weeks in the NICU and being seen by so many specialists, we were told Aj needed to be followed by a geneticist. We went months sampling and testing his blood, skin, and bone marrow. The doctors thought very early on that Aj had a specific condition. After all the tests showed negative, we would start all over. This went on for years. By age 3, Aj continued to have immune deficiency, microcephaly, absent seizures, and extremely high reoccurring fevers. All the tests would come back normal for any DNA test that was done. Aj showed many signs of being on the Autism Spectrum, but we could not get a diagnosis because, according to doctors at that time, Aj’s genetic disease took precedence. By the age of 4, I was told by genetics that they were nothing they could do. That we will have to tackle conditions and episodes as they arise. Realizing Aj was a Swan Kid (syndrome without a name) I knew I had to make moves.
I relocated from Florida to Georgia. Aj finally became verbal at four years old. Between the ages of 4-7, Aj progressed. Aj finally received the Autism diagnosis and qualified for whole genome sequencing. Aj was found to have two abnormal variants, with very little to no information on them. K1aa1210 and Fmn2 are those variants. Aj was thriving and followed by many specialists. To raise awareness, I became the author of a children’s books series, “Superstar Heroes,” starring my son Aj. These books teach all kids about different disabilities, including rare diseases. After this, I opened a non-profit organization Helping Swans that takes all proceeds and donates these unique children’s books about disabilities to underserved communities, children’s hospitals, community centers, and libraries. My goal is to educate, advocate and spread awareness in both English and Spanish through my company The Swan Kid LLC.
www.helpingswans.com
www.theswankids.com
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