Help me make a difference by supporting SKS research!

Currently SKS patients and their families face overwhelming day to day challenges as the overactive MTOR gene wreaks havoc on the body, including disrupting sleep and causing seizures. Imagine living with an unpredictable colicky newborn for years. Or feeling jetlagged every day. This is what life is like for SKS patients and their caregivers. The seizures and lack of sleep have negative impacts on cognition, health, and overall quality of life for people living with SKS.

Smith-Kingsmore Syndrome Foundation is working to change all of this.

On 22 March 2021, I found out I was pregnant. Being new expecting parents, we were excited and terrified at what laid ahead for us. During the pregnancy, I had prenatal genetic screening done to detect any chromosome abnormalities or deficits, such as Down Syndrome. All results came back negative. I also had additional genetic testing done to see if my son would have my PAX6 gene mutation, which caused me to have aniridia and visual impairment. These results also came back negative, and I was so relieved. He would have colored eyes! He would not have to experience similar medical issues and hardships that I had to endure growing up! Little did I know then that Zach would have his own rare genetic disorder due to a mTOR gene mutation.

Zach came six weeks early and had to stay in the NICU for 3 days due to swallowing meconium and having low oxygen levels. Zach’s head circumference consistently measured in the 99th percentile at his checkups with his primary care doctor. We had an ultrasound done to examine his head for any concerns. The results came back normal.

Zach began missing many milestones. Zach’s doctor referred us for early intervention services due to his delays, and he was assessed when he was 10 months old. It was determined that he had global developmental delays, feeding issues, chronic congestion, and a tongue/lip tie. Early intervention recommended that Zach start occupational therapy, participate in a swallow study, and see a pediatric dentist, ears nose throat doctor, and geneticists.

Our days became filled with doctors appointments and tests, and on 5 December 2022, Zach was diagnosed with Smith-Kingsmore Syndrome (SKS). I was relieved to finally have a cause for all his developmental and medical concerns, but it did not make the diagnosis any easier to digest. If I am being honest, I was shocked and filled with grief, not because I loved him any less, but because having a disability myself, I knew he would have challenges and stigmas that he would have to endure.

So, being parents of a child with a rare neurodevelopmental genetic disorder became our new normal. Not much is currently known about SKS, and outcomes vary among those with the syndrome. We are taking it one day at a time. We love him dearly and will be there to help him through all life’s adversities.

Today, Zach is 21 months old. He can crawl and working on pulling to stand,, but he is still nonverbal, has GI and sleep issues, and was recently diagnosed with autism. He is currently in physical, occupational, and speech therapy,

Your contribution today will help the Smith-Kingsmore Syndrome Foundation drive science further towards treatments and a cure. I’m fundraising for the Sunniest Day of Hope Campaign so that SKSF can assist each patient and their family with sleep, seizures and many other debilitating life factors by supporting research that will lead to targeted treatments.

Your donation to the Smith-Kingsmore Syndrome Foundation is fully tax deductible and not only brings help toward a disease but provides overall support to this worldwide community.