(BPT) - Imagine having a healthy pregnancy, a normal birth and a beautiful baby girl who is growing wonderfully. However, at some point between 6 to 24 months, you notice that she begins to miss developmental milestones.
You visit with your pediatrician, who may counsel patience, as children often develop differently and not always at the same pace. But, eventually, you realize your daughter is indeed losing key abilities she previously had.
After consulting with your doctor, you're sent to see a neurologist, who gives your daughter a special genetic test and eventually makes the devastating diagnosis that your child has Rett syndrome and that she will never walk or talk again.
And because so very few health care professionals even see or treat this incredibly rare disease, you'll likely become more of an expert on your daughter's care than most of the doctors you'll ever deal with.
"When we heard the neurologist speak the words 'Rett syndrome,' it was like a death sentence," said Tim Frank, a former music industry executive in Nashville whose daughter Ella was diagnosed in 2012 after noticeably regressing in her development.
"Our hopes and dreams for our daughter, and our family, shattered to the ground at that moment," said Tim. "And we were overwhelmed by the idea that we'd eventually know more than the medical professionals around us about a disease we'd never even heard of before."
What is Rett syndrome?
As Tim learned, Rett syndrome is a rare genetic neurological disorder that is not hereditary and overwhelmingly impacts very young girls. Rett syndrome occurs worldwide in one of every 10,000 female births, according to Rettsyndrome.org, and is even more rare in boys.
There is no cure. Disabilities initially can be mild to severe but will eventually impact every aspect of a child's life, including walking, speaking, eating, going to the bathroom and even breathing. The need for 24-hour care puts incredible responsibility and strain on caregivers, and takes a mental, physical and financial toll.
Tim has altered his entire life to care for Ella. Now living in Florida and working full time for Rettsyndrome.org as director of marketing and communications, Tim has had Ella on a waiting list for a Medicaid waiver for over five years.
"If she had a more common and prevalent condition such as autism or mental retardation, she would automatically be placed on the list for a Medicaid waiver and get more support and services," he said, emphasizing that policy changes and resources are needed at the local, state and national level to help families with rare diseases such as Rett syndrome.
A groundbreaking international research survey to help Rett syndrome families
Under the banner of The VOICES of Rett, one pioneering effort to help those with Rett syndrome and call attention to the critical need for research and resources for this debilitating disorder is the International Rett syndrome Burden of Illness Survey.
This is the largest survey of its type and is being conducted to gather data on the physical, emotional and financial challenges of Rett syndrome on patients, their families, caregivers and the entire Rett patient community. The results will identify and guide therapies, and help improve intervention programs and services designed to help Rett syndrome families.
"The Rett Burden of Illness Survey is incredibly important to speak to the research community, to speak to government, to tell the story of how this disability impacts the child's life and then ripples over into the family's life and ripples into affecting the entire community that the individual is in," said Paige Nues, mother of Katie, who has Rett syndrome.
"The symptoms of Rett syndrome are often overwhelming for patients, families and caregivers," said Melissa Kennedy, executive director of Rettsyndrome.org. "Individuals with Rett syndrome have very different physical challenges and needs from other illnesses. Today, there are few resources available for Rett patients and their families. Each family is left to carve their own way to find the resources they need to care for their loved one."
"That is why this survey is vitally needed," said Kennedy. "It will help provide a sound understanding of the impact of Rett syndrome on patients and their caregivers. It's a valuable opportunity for the global Rett community to make their voices heard by those influencing the development, use and funding of treatment."
Take action today
Families of those with Rett syndrome often feel isolated, facing the daunting task of learning about a rare disease while also watching their loved one struggle with regression and severe medical hurdles.
It's time to be heard. If you are a caregiver to someone with Rett syndrome, or a healthcare provider treating Rett syndrome patients, visit https://voicesofrett.org to learn more and complete this groundbreaking Burden of Illness Survey.
Add your voice to the conversation today.