May 21, 2015, is Jean’s Day to support one of our professional’s nephew — Lynkin. He was born in August 2010. His amazing parents, Alex and Tasha were so excited to welcome him to the world. Lynkin’s older brother, Reis, was born with a cleft lip and palate, so t were so relieved to have their second child born without any problems.
Lynkin was a great baby. However, as time went on, those close to him started to notice that he was showing signs of developmental delay. As Lynkin approached his first birthday Alex and Tasha decided it was time to seek opinions of additional doctors to find out why he was so far behind. At this stage of his life, Lynkin should have been close to walking, but he was no-where near ready for his first steps.
After consulting many doctors, and undergoing a number of tests, his family received the results of a gene test. It was discovered that Lynkin’s genetic make-up was missing the maternal copy of chromosome 15. The eventual diagnosis, of Angelman’s Syndrome (AS), was reached when Lynkin was almost 18 months old.
The initial reaction of our family was confusion. AS is a rare disorder that affects only 1 in 10,000-20,000 people, and receives little publicity. Because of this, none of us had even heard of AS, so we had no idea what the diagnosis meant.
We found out that children with AS do not usually show any symptoms until 6 months old or later. According to the Mayo Clinic’s website, just a few of the symptoms include the following:
- Lack of speech
- Inability to walk, move, or balance well
- Unusual behaviors, such as hand flapping and arms uplifted while walking
- Frequent smiling and laughter, and excitable personality
- Abnormal sleep cycles
Three years after the initial diagnosis, after physical, speech, and occupational therapy, Lynkin is able to walk on his own, feed himself, and can communicate some basic needs. Lynkin’s development continues to progress, but it is extremely slow, and he will require life-long care from his family. While the occasional day is challenge-free for the family, it is normally a struggle.
The Angelman Syndrome Foundation (ASF) is an organization founded to improve awareness and treatment of AS through education, research, and support. Currently there is no cure for AS. However, great strides are being made in researching treatment, and hopefully one day a cure. On May 20th, MarksNelson professionals showed their support by hosting a jeans days with proceeds going to ASF.