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Growing up One in a Million
Posted on June 6, 2023 by melelllan
I don’t often have guest bloggers, but I felt that with all the attention on girls since the release of Daybue (trofinetide) that it was important to note that boys are eligible for Daybue. Boys DO get Rett syndrome; it most certainly is under-diagnosed, as even current data reiterates that boys rarely live past infancy. Us PARENTS know this is not true, we see their handsome faces on social media, we watch them age, giggle, smile, interact with the world around them; but, above all, they are loved long past the time they’re in baby clothes.

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  Parker
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  Cortland
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  JJ
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  Colin
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  Barrett
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  Andrew
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  Nick
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  Avery
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  Ed
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  Owen
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  Jaycob
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  Henry
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  Yahir
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  Trey
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  Tyler
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  Gio
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  Parker
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  Cortland

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Cortland
I reached out to Kate Ferdinandsen, who is a leading advocate for boys in our community. She wrote this piece I share with you now.

How Awareness Affects Access and Quality of Life for Males with Rett Syndrome

By K. Ferdinandsen

Over the last few months, I’ve received a steady stream of Rett syndrome-related news articles in my inbox. Like most, I’ve read each article about current and potential treatments with anticipation. Within each of these articles, there is usually a paragraph or two describing Rett syndrome for the reader. Unfortunately, these descriptions almost always entail a dismissive sentence stating that males with Rett syndrome rarely survive infancy. It’s a claim many caregivers of boys and young men with Rett syndrome have worked hard to change because it fails to provide a complete description of this small population.

My son Colin was diagnosed with Rett syndrome nine years ago. Aside from delayed speech, Colin’s early development was relatively typical until he was eighteen months old. The changes were subtle initially, often causing me to second-guess my concern. At 18 months, Colin began to repeatedly turn the paper pages of his favorite books while staring at his fingertips. Then, the changes became so rapid it felt like he lost another skill each week. By 22 months, he’d stopped playing with his toys, and his fingers could no longer hold onto things. His once confident toddler stride became unsteady, often clinging to my leg as we attempted to ascend a single step on the porch. He withdrew inside himself, often looking in our direction as if we’d become transparent even though we stood right before him. Nothing we did could comfort or bring him out of his internal fog at this time. These dramatic changes subsided as quickly as they began. Colin settled into his new normal of hand wringing and an unsteady gait. Mercifully, his old responsiveness returned. For a boy in 2010, Rett syndrome was not on anyone’s list of possibilities.



At 3, Colin was diagnosed on the autism spectrum. He attended a preschool designed for students on the spectrum and couldn’t keep up physically. He had no interest in toys, yet Colin spent his school doing hand-over-hand toy-related activities. His fingers couldn’t manage the buttons on the Ipad in speech therapy. Physically, he could not keep up. He would return home frustrated and exhausted. So, I brought him for a second, third, and fourth opinion. Only one clinician considered Rett syndrome in a boy and referred Colin for genetic testing. All of this occurred while my son displayed visible hallmarks and met all clinical criteria for Rett syndrome.

On the day he was finally diagnosed the geneticist asked, “Do you have someone with you today?” That’s when I knew. The look on her face told me more about my little boy’s diagnosis than the stack of paperwork she handed me. At the end of the appointment, the doctor advised me not to do a Google search of boys with Rett syndrome. Naturally, I walked out to my car and did exactly what she’d advised me not to do. In quick succession, I scanned through multiple medical search websites. At that time, every website stated, “Males with Rett syndrome do not survive infancy.”

Colin was 6 that day, he is 15 now. Regardless of how long or short the life of a boy or young man with Rett syndrome may be, it is unacceptable and insensitive for anyone to refer to them as if their small numbers devalue them.

Since 2016, I have encountered families of over eighty boys and young men diagnosed with Rett syndrome; of those eighty males, twenty-nine boys have passed away in the last six years. All lived beyond the stage of infancy. Whenever information is spread that minimizes this fact, it reinforces an incomplete understanding. Here are just a few examples from recent articles.

“Affected males usually don’t survive infancy or have more symptoms.” Rett Syndrome News, January 25, 2023. rettsyndromenews.com/news/rett-gene-therapy-ngn-401-cleared-advance-clinical-trials/

“The disease occurs almost only in girls, as boys will not likely survive early infancy if there is a MECP2 mutation.” Rett Syndrome News, May 25, 2022. rettsyndromenews.com/news/rett-gene-therapy-ngn-401-cleared-advance-clinical-trials/

“Boys with mutations in MECP2 and only one copy of the gene rarely survive infancy.” Spectrum News, June 16, 2021

Unquestionably and regrettably, I do recognize that many boys with Rett syndrome have passed away during infancy. However, enough boys have lived beyond their first year to acknowledge the definition of this small population needs revision. I have witnessed the impact an incomplete understanding can have on a child with a rare disorder’s life. It can cause delays in diagnosis and Rett syndrome appropriate medical, therapeutic, and educational services. Care designed for people with similar diagnoses differs from care and supports intended for an individual with Rett syndrome. Another concern is that pharmaceutical companies considering clinical trials are also reading these published articles and they are not getting the complete picture.

Despite these obstacles, things are looking better for males with Rett. Last Fall Taysha Pharmaceuticals announced their plans to hold three upcoming clinical trials, the third of which will be the first clinical trial to include males with Rett syndrome. In January, IRSF generously announced their support of a forthcoming study on the male Rett diagnostic experience. In February, IRSF established the Barrett Otis Research Fund for Males with Rett syndrome through the generous support of the Otis family. In March, the US FDA approved Acadia Pharmaceutical’s Daybue for “individuals” rather than only females with Rett syndrome. All are signs that we are moving towards a better understanding of males with Rett syndrome in the future.

To all the caregivers of girls and women within the Rett community who have already been encouraging the inclusion of males for years, your support has meant more than I can express. I also realize there are girls and young women who have also struggled to access their Rett diagnosis and experienced delays in receiving Rett-appropriate care. My hope today is that every child born with Rett syndrome will have timely access to diagnosis and appropriate care.