Ellens Story

Ellen was born in September of 1994 to learning disabled parents. It was decided to look into her chromosomes for various reasons. Someone with sharp eyes noticed chromosome 17 looked too short, keep in mind this was before FIDH array and CGH etc.. So this was all done through Karyotyping. They found SMS this way. Her birth parents were then tested and it was found she had inherited the deletion from her mother. Her mother was diagnosed after Ellen received her diagnosis.

Hazel (Ellen’s Mother, non birth parent) says she had Ellen when she was 13 months and she was number 3 of her 4 children. This was all before internet and google etc.. But hazel was able to find the SMS UK Foundation through Contact-A-Family now called Contact. She first met other parents in 1996 and again in 1999. In 1997 Ellen started school and amazingly there was another boy who also had SMS. Life continued without much targeted support with understanding the syndrome. They had a few rough years with sleep between the ages of 3-9. At 10 years old they received melatonin and saw an amazing difference with sleep patterns. By that time puberty was causing behavioral issues and noone had experience with SMS to assist. At 12 Ellen went to a camphill school as a residential pupil and that made a huge difference to her and their family. Hazel has always been a single parent and worked as a pediatric physician until she had her 4th and final child. In 2015 she asked for more up to date genetic testing. She states ” Imagine my shock when 2 other micro deletions also thought to be pathogenic. 15Q13.3 and 16P12.2 aswell as the 17P11.2(sms).”

Medically Ellen has had several operations, such as bilateral squints corrected at age 2, numerous sets of grommets, a spinal fusion at age 11. Her scoliosis appeared before she was 3 and was an S curve. The day before correction, her curves were 83°, they got corrected to a 42°. She also has bilateral bone, anchored hearing aids done several years apart, and has CVI, registered partially sighted.

Given all of this information about Ellen, she is still as beautiful and special as any other non SMS diagnosed individual is. Some of Ellen’s favorite things and memories her mother has with her are, Swimming in the middle of the day. Ellen walked at 22 months old, as well as saying “Mum” when she turned 3. The protectiveness and complete acceptance of her younger sister within days of her arriving as a 2 year old. She captivated every moment of her life thus far with beauty and grace, including how she coped with major surgery. She has so much love for her nieces and nephew. The perseverance she has to learn physical tasks is unremarkable. Her mother loves her compassion, her empathy, aswell as her sense of humor. Ellen’s love of life and contentment with life. She has many crafting abilities therefore their home is full of things she has made and are exhibited all over. Ellen is remarkable in her own special ways, and I was so lucky to be able to receive her story to share with others.