Rachel’s 15 Year Journey Towards Helsmoortel-Van der Aa Syndrome Diagnosis

October 7, 2016

Rachel was born in November of 2000. She was born 2lbs 9oz at 32 weeks she was taken out due to no growth since 4 months gestation. She was healthy except that she was small and cold. To the doctors the only thing that was apparent to be wrong was her pituitary gland was to small to function normally. Rachel was given Human Growth Hormones for approximately 6 years from the age of 2. On top of all these worries Rachel had multiple medical problems that resulted in many hospital stays through out her first couple years of life.

As Rachel grew older she was not meeting regular milestones. She was in physical therapy since she was a few weeks old to help her with her strength. Despite all the constant therapy she did not walk until about two-years-old. For many years to come Rachel had intensive physical therapy, occupational therapy and speech therapy professionally 5 days a week.
The doctors were unable to diagnose Rachel with anything except traits of Angelman Syndrome, Traits of Smith Magenes Syndrome, Severe Cognitive Delay and mental disabilities, as well as a severe sleep disorder.

We self taught our family American Sign Language to help Rachel with her frustration of not being able to speak. Rachel has needed 24/7 care since she was born. She is now 15 years old and is mentally at about a three-year-old. She is now 4.7 feet tall and 130lbs. Despite the struggles she faces daily, Rachel is one of the happiest girls her age you will ever meet.

Finally in May 2016 we got the call we have been waiting for for 15 years. her whole genome sequencing results came back. She has a very rare gene mutation. Her diagnosis of Helsmoortel-Van der Aa Syndrome or ADNP was our answer. Finally an answer! But it is bittersweet news because it is so rare, Rachel is the only one in Canada with this and to top it off, she is one of the oldest children with it in the world. We were given one sheet of information that led us to an amazing group on Facebook that has 80 other parents with children from all over the world. This has been the hardest road to have to go down. We will keep on fighting for everything that Rachel needs to be the best person she can be as well. The diagnosis is amazing but because it is so rare and Rachel is one of the oldest with this disorder all we can do is hope that there are some answers out there, somewhere, to help her into adulthood.

We also love to help others by sharing our story of our struggles and how amazing the kids can grow up to be. Although she will never reach past the level of a three- year-old cognitively we can just make sure there are things lined up for her to be productive as an adult to the best of her ability and help other families like ours with their road to raise a successful ADNP child.

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