Rett Syndrome Parents on Their Daughter’s Diagnostic Journey
HTML-код
- Опубликовано: 15 окт 2024
- Molly and Adam Fleming, the parents of Natalie, a young girl with Rett syndrome, discuss Natalie’s diagnostic journey.
Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal pyschomotor development during the first 6 to 18 months of life, followed by a developmental “plateau,” and then rapid regression in language and motor skills. Common symptoms include hand-wringing; fits of screaming and inconsolable crying; autistic features; panic-like attacks; bruxism; episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Rett syndrome is most commonly caused by a sporadic mutation in the MECP2 gene on the X chromosome. The majority of cases are not inherited from a parent. Treatment mainly focuses on reducing specific symptoms of the condition as there is currently no approved treatment or cure for Rett syndrome.
Molly talks about what Natalie was like as an infant and what led them to test Natalie for Rett despite her not showing any of the common symptoms at the time. Molly also talks about the importance of having a team of therapists and loved ones to support Natalie.
For more information about Rett Syndrome and other rare neurological disorders, visit checkrare.com/diseases/neurology
Trofinetide is the new drug to help with Rett syndromes, hopefully FDA will approve it on 3/12/2023 to help the precious child. God bless.
thank you so much for sharing your story! best wish for everything
She’s A Dolly ❤️
With great great parents ❤️❤️
She is special and God will make her very well very soon. God bless you little angel
The dad looks pissed that this happened to his daughter. Can't blame him 😢
You arrogant prick!!! I hope you don’t have a daughter with RETT syndrome.
The mother has recessive genes
@@katrinaolsen2444 It did happen to other kids that they got Rett from their mother - one girl survives but her younger brother died after births few days. It can be from either father of mother. In this case, I have to agree with Debra Marshall. Let's hope that FDA will approve the new drug next week, it will help this precious child.
@@httran9098 Oh I’m sorry about the lady who had two children with RETT and that the boy died.
@@httran9098 And I hope that there is a drug that helps.