Dad’s daughter has rare disturbance that took her ability to speak (exclusively)

Casey McPherson, Frontman for the progressive rock band Flying Colors, used to love to sing with her 9-year-old daughter Rose. But his daughter, who was diagnosed with an ultra-sighted genetic disorder in 2019, has lost the ability to speak.

“She screams and giggles and cries and sounds and sounds, but she has no friends,” says McPherson, 46, of her daughter’s Hnrnph2-related neurut development disorder. “She doesn’t know how to play with anyone.”

After McPherson learned about his daughter’s diagnosis, he rejected a Sony record agreement, determined to find a cure for his little girl. In 2023 he launched a biotechnology company, AlfarorapeuticsAnd has collected more than $ 1 million since January – and he plans to raise $ 5 million in June to ensure that his daughter gets precision medicine she needs.

This treatment has been developed by experts in the field and in addition to raising money to finance it, the company is currently working for approval to use it in a clinical trial. If everything works, Rose hopefully just six months away from getting his first treatment.

“This is just the beginning for me. I devote the rest of my life to this,” says McPherson, who pops up in RareA documentary about five families on a year-long search for cures for their children with rare and ultra-sight disturbances.

McPherson, who is also Frontman for the band Alpha Rev, hopes that the documentary, which was recently presented in Washington, DC, will raise awareness when he and others strive for a “regulatory path” to invest in treatment for the 30 million people in the United States with rare disturbances.

Many of the more than 7,000 rare diseases (ie conditions that affect fewer than 200,000 people) are life -threatening and do not have treatment options, according to FDA.

For McPherson, it is a race against time because he and his family continue to monitor Rose’s health and ability to get involved in the outside world. She is currently testing at the level of development for an 18 -month -old child, but her father remains hopeful.

“Rose works really hard. She gives everything she has to stay alive and to exist,” says McPherson. “So I should do everything I can to give her every opportunity to unlock her freedom.”

After Rose was born in 2016, she seemed to be relatively healthy. “She lacked some development milestones, but the doctors were not so worried,” says McPherson. It changed when Rose began to stifle her food. As Rose got older, she never learned to crawl, instead she would fall flat in the face while she learned to walk, which took a year. But Rose learned sign language and could say the words “mom”, “dad” and “outside.”

McPherson and Rose’s mother had taken Rose to the doctors’ meetings to gain a better understanding of her struggle, but they knew something had to change when Rose could no longer speak. “She would start screaming and she looked like she was in pain,” remembers her father.

McPherson then began a “diagnostic odyssey”, which many parents with children with rare and ultra-synthetic genetic conditions go into when they seek a diagnosis and treatment. Rose was three years old when her parents learned the name of her disturbance, which is the result of a mutation of the Hnrnph2 gene. Rose also has autism, which her father describes as originating from the genetic disorder.

Dr. Jennifer BainChild neurologist at the Newyork-Presbyterian/Columbia University Irving Medical Center, has studied Hnrnph2-related neurout development disorder for eight years. She tells people that individuals with mutations in that gene often have development delays that inhibit their ability to go and talk, most of which “need full support for adulthood.”

“Many of them have autism spectrum disorder or autistic features,” she adds. Based on her research, Bain says that people with disorder may have “increased risk of early death, premature death, regression, seizures and epilepsy.”

She notes, “So it can really be a very devastating diagnosis.”

Rose has intermittent attacks and McPherson says his family supports the next. Her last attack, which happened last year, made her flatten for about a minute before her grandmother brought her back with CPR and she was rushed to the hospital.

Rose also struggles with deep perception, so walking can be difficult, she is not pot -educated and her oxygen levels and heartbeats must be monitored at night. The daily challenges make it extremely difficult for her parents, who are now divorced, to leave the house or go on vacation. “You are more isolated,” says McPherson.

Rose’s sister, 11-year-old Weston, has also been affected. “She has had to take the back seat many times,” says her dad.

Despite Rose’s struggle, she actively tries to get involved in her world and is currently attending a private school. Her dad says she is “much smarter” than tests suggest, she has just lost some features.

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To honor his daughter’s strength, McPherson started a non -profit, In order to cure a rose foundation2021. The next natural step was to launch AlfarorapeuticsA public utility company, in October 2023. McPherson plans for the company to develop treatments for rare genetic diseases on a scale and fill a void left by the pharmaceutical industry.

Bain says she is “happy” to learn when any rare disorder has a treatment. “Right now there are no FDA-approved medications,” says the pediatric neurologist, who is currently working on a separate clinical trial for three people with the disturbance, “and so it must definitely be pushed forward.”

The final goal is simple: McPherson hopes that Rose and other children she will be able to walk, swim and learn in ways they have not been able to before. “Maybe she will make friends. Maybe she will sing a song, maybe she will say” Dad “again one day,” says McPherson. “These are my goals. These are the things that mean for parents.”