A Fort Collins family has teamed up with a small group of parents to start a fundraiser to fund research and development of a life-changing gene therapy treatment for the FRRS1L gene disorder. FRRS1L is a protein-coding gene that affects the transmission of messages between cells in the brain, causing regression and loss of function in children.
The FRRS1L gene disorder, which is fully effective in children around the age of 2, results in seizure activity that leads to regression in the child. Within months or even weeks, children lose their ability to move, speak, feed orally, and control their mind and body.
The local champion for this fundraiser is Chrissy Green from Fort Collins. Green’s 3-year-old daughter Everly was diagnosed with this rare genetic disorder and had seizures and regressions right after her second birthday.
“Everly was our quick girl, and it’s difficult to watch before and after videos of her condition. Within just two weeks of her first attack, Everly lost her mobility and independence. In a matter of months, she had gone from indoor racing to immobility, ”said Green, who moved her family to Fort Collins, Colorado a little over a year ago because of the medical facilities and family support in Colorado.
“When Everly was about 6 months old, we noticed delays in her development, she wasn’t turning as much as expected, and she had an inward-looking eye that prompted a visit to a neurologist,” said Green. “After seeing various doctors and doing all sorts of tests, we finally did a full genetic scan that resulted in our diagnosis of FRRS1L 6 months before Everly’s second birthday.”
Desperate for answers and support, Green joined a Facebook group of parents also studying the effects of FRRS1L disorder, and through that group Green joined with two other mothers for the possibility of gene therapy Looking for. It seemed like an impossible hope, but they were able to get in touch with one of the best gene therapists at the University of Texas Southwestern.
“We spoke to a gene therapy doctor who told us about new research that came out specifically on the FRRS1L gene disorder, which had shown through mouse modeling that gene replacement therapy was going to restore function in mice, and even more promising that it was new There was cell growth as a result, ”said Green. “If you’d asked me two months ago if Everly would ever regain her health or even stop the debilitating seizures that were causing the regression, I probably would have said no. But now, after years of walking this journey of loss and sadness with our friends and family, we can finally go with hope and encouragement. There is a real possibility of healing to heal our children. “
An estimated $ 400,000 will fund the preclinical research required to develop a treatment. The group will then seek FDA approval to begin clinical trials of FRRS1L gene replacement therapy, at which point additional funding sources may be available for the higher study costs.
“We started the Finding Hope for FRRS1L online fundraiser last Sunday with the goal of raising $ 100,000 in 30 days, but instead raised $ 100,000 in the first 24 hours. We’re excited to announce that we’ve now passed the $ 280,000 mark. All of this is due to the fact that family, friends and even strangers see the smiles and struggles of our children and donate out of love and hope. “
The Finding Hope for FRRS1L online fundraiser received more than 650 donations and achieved 61% of its goal.
In addition to raising money, Green’s goal is to raise awareness of FRRS1L and other rare genetic diseases to help diagnose and develop treatments. Green said: “We have seen within our parenting group that children with FRRS1L gene disorder come from many ethnic groups, which leads us to believe that there are many more children around the world who are yet to be diagnosed or who are misdiagnosed became.”
“It’s just our little kids inside. They want to play and interact, and they cannot physically do it on their own. Everly shows us that she’s still in there, she just has no control over her body. That’s the hardest part, we know our kids are inside and we just want to help them regain control of their lives. “
With the support of friends, family, and even medical providers, Green is optimistic about the fundraiser.
“Unfortunately, I never met Everly before seizures made her unable to speak or even hold her head up. I met Everly and her family after they moved to Colorado, and unfortunately I have seen her decline further as seizures ravage her body, “said Dr. Amy Bailey of Youth Hospital (TYC), Everly’s pediatrician since the Greens moved to Colorado.
“There are currently no specific treatments for the FRRSL1 gene disorder and unfortunately the seizures are difficult to treat with our current drugs. With every seizure, children suffering from a FRRSL1 gene disorder experience further setbacks in their development, ”said Dr. Bailey.
“Only in recent years have we discovered that a loss of function mutation in the FRRSL1 gene leads to a form of early encephalopathic epilepsy. Gene therapy could give hope for treatment to families suffering from the disease. With community support, fundraising and research, I hope we can find other treatment options for families. “
Learn more about Everly’s condition and follow her process on Instagram at instagram.com/everlyshope.
Donations can be made online at www.FRRS1L.org. An estimated $ 400,000 will fund the research necessary to gain FDA approval to begin clinical trials of FRRS1L gene replacement therapy, at which point additional sources of funding may become available for the higher cost of the trials.
The FRRS1L gene is a protein-coding gene found in all cells in the brain. It helps build key components of the Ampa receptor that are produced to sit outside of the cell and send messages between cells. The FRRS1L gene disorder results from a mutation and the resulting loss of function of the FRRS1L gene. The FRRS1L disorder prevents messages from getting from one cell to another in the brain. These messages affect all areas of the child’s function and life. The resulting disorder leads to epilepsy, progressive dyskinesis (abnormal movements), developmental delay, diffuse hypotension, cortical and cerebellar volume loss, gradual loss of responsiveness to the environment. Current research shows that children are developmentally delayed from birth to two years of age, but still acquire skills, and then have seizures by two years of age that cause regression and rapid loss of function and / or ability.
For more detailed information about the FRRS1L gene disorder and the doctor who will lead the development of this treatment, see the following research studies and links:
The youth clinic specializes in the treatment of infants, children and young adults. It has looked after generations of young people from the region for more than 50 years and prides itself on its role as a partner and resource for parents in the development of their children. The youth clinic conveniently offers four office locations north and south of Fort Collins as well as in the Medical Center of the Rockies in Loveland and right off I-25 and Harmony Road in Timnath. For more information about the youth clinic’s services and care, and to make appointments, visit the youth clinic’s website at www.youthclinic.com or call 970-267-9510.
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source https://www.bisayanews.com/2021/09/20/fort-collins-family-raising-400000-to-develop-treatment-for-genetic-disorder/
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