When ARcare LPN Jessica Williams had her youngest daughter, all seemed well. But at one-year-old, genetic testing revealed something that Jessica and her husband never expected. Morrigan was diagnosed with Rett Syndrome, a debilitating neurological/movement disorder that mostly affects girls. This World Rare Disease Day, get to know more about Rett Syndrome and learn how you can help support Jessica’s daughter Morrigan and her entire family.
How did you first become aware of Rett Syndrome?
We learned of Rett Syndrome when our youngest daughter Morrigan was diagnosed with it on September 22, 2016. She was one-year-old. She underwent genetic testing via blood sample. It is caused by a single gene mutation that leads to underproduction of an important brain protein
After the diagnosis, we learned that another baby girl is born afflicted with Rett Syndrome every 90 minutes. It is a rare neurological disorder that impacts almost everything that Morrigan tries to do. It primarily affects girls, and is the leading genetic cause of severe impairment in girls—most can’t speak, walk, or use their hands.
How does the Rett Syndrome affect your family’s life?
Morrigan may not be able to communicate using speech, but she can hear and understand you. She may have trouble walking and using her hands, but that won’t stop her dreams. She is smart. She’s smart just like the thousands of others with Rett Syndrome.
Rett Syndrome affects every aspect of our family’s life. My husband and I can’t help but worry- Is Morrigan happy? Is she in the correct position? Is she safe and comfortable? Will she make it through the night? Will she grow old? Everything we do has to be well thought out and planned.
How can people help support those with rare diseases throughout the year, not just on World Rare Disease Day?
First, please like Morrigan’s Journey, the Facebook page that we created to promote Rett Syndrome Awareness. Support related nonprofits on Facebook and have friends and family donate. Instead of birthday gifts, encourage people to support nonprofits on Facebook.
You can also donate directly to these outlets, which support Rett Syndrome awareness and research:
What would you like the general public to know about rare diseases, and specifically Rett Syndrome?
Just this: that public donations and spreading awareness are vital for a cure.
In the United States, it is estimated that the incidence of Rett syndrome is 1 in 10,000 girls by age 12. This rare disease, like so many others, needs the support and awareness of those in our community here in Arkansas. As a provider of family medical care in Arkansas, we encourage you to get regular checkups with your primary care provider and to continue to support Morrigan and her family! Give us a call at (877) 876-8032 to schedule an appointment today.