CHARLIE

Meet Charlie!

When I was pregnant with Charlie, my OB was concerned about his head growth. When he was born, his head circumference measured in the 99% range while his weight and length were in the 25-50% range. However, he was a happy newborn and seemed healthy. At 2 months of age, Charlie was hospitalized with a blood stream infection and UTI. Although he recovered well, he was delayed in meeting developmental milestones and he had significant hypotonia (low muscle tone). We were told his delays may be due to this illness, but at 8 months of age we decided to seek out other causes. His head was still measuring in the 99% range. He had an MRI that showed benign enlargement of the subarachnoid spaces, enlarged lateral ventricles, and delayed myelination. Charlie was diagnosed with global developmental delay and the movement disorder called persistent primitive reflexes. We decided to do genetic testing. Charlie had a chromosomal microarray genetic test that revealed he has a microdeletion on the 7th chromosome on the gene AUTS2. However, Charlie has macrocephaly which is not a symptom of AUTS2 syndrome. We requested to have whole exome sequencing done to see if there was another cause for Charlie’s symptoms. However, this test was still new, and we had to wait a year before it was available at our hospital. In 2013, Charlie was finally able to have whole exome sequencing, but the results were normal. GeneDx, the lab that ran his test, relooked at his results in 2015 compared to new gene discoveries and his test was relabeled as having a variant of unknown significance on the gene mTOR. Then in 2019 we were notified that GeneDx relabeled his test has having a pathologic variant on mTOR, called Smith-Kingsmore Syndrome (SKS).

Charlie was delayed with all gross motor milestones. He did not sit independently until 13 months old, he crawled at 15 months, and he finally started walking right before he turned 2 years old. Charlie was also diagnosed with severe apraxia of speech and developmental coordination disorder. He was enrolled in our public school’s special needs preschool program in order to continue to receive much needed therapy services. At age 3 ½, Charlie was diagnosed with Autism.

Finding out that your son has a rare genetic condition is overwhelming, finding out your son has 2 rare genetic conditions is beyond comprehension, but we refused to let this define Charlie. With the help of Early Intervention services, strong school support system, ABA therapy, and intensive developmental therapies after school for 5-20 hours a week, Charlie continues to make huge gains in all areas of development. He attends our neighborhood elementary school and has a one-to-one support for most of the day. He loves music and enjoys all sports. He plays basketball in an inclusive program for kids of all abilities. He struggles with an extremely short attention span and takes medication for ADHD. Charlie has difficulty falling asleep and staying asleep but with the help of medication and a strict bedtime routine, he is having more successful quality sleep. Charlie also has hyperphagia (abnormal increased appetite) which is likely due to having SKS.

We feel extremely blessed to live in an area with incredible resources for children with diverse abilities. Charlie has a large team of support and he has been given many opportunities to help him reach milestones and goals. Charlie is a happy loving boy whose smile will light up the room. He shows a tremendous amount of empathy towards others and he amazes everyone with his spirit for life every single day!

When Charlie was diagnosed with SKS, I was relieved to connect to other families in the Smith-Kingsmore Syndrome Facebook support group. We feel less alone sharing our challenges and triumphs with others who understand what we are going through. It has been so valuable to share experiences with other families. We are building a community where sharing information is improving our ability to care for, find resources for, and support children with SKS. With the help of the Smith-Kingsmore Syndrome Foundation, we are raising awareness for this rare genetic condition and encouraging new research to improve the quality of lives for all those living with SKS.

Written by Sarah, Charlie’s mom