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Started By
Message
Friend's kid was diagnosed with atypical Rett's syndrome. Damn.
Posted on 2/5/18 at 5:33 pm
Posted on 2/5/18 at 5:33 pm
Reading about this thing now. What a bitch. Talk about a living hell on earth.
6
Posted on 2/5/18 at 5:39 pm to prplhze2000
This thread would be more interesting if we didn't have to Google what that was.
Posted on 2/5/18 at 5:43 pm to Chuckd
Ok, ok, ok. From raredisease.info:
LINK
quote:
Atypical Rett syndrome is a neurodevelopmental disorder that is diagnosed when a child has some of the symptoms of Rett syndrome but does not meet all the diagnostic criteria. Like the classic form of Rett syndrome, atypical Rett syndrome mostly affects girls. Children with atypical Rett syndrome can have symptoms that are either milder or more severe than those seen in Rett syndrome. Several subtypes of atypical Rett syndrome have been defined:[1]
The early-onset seizure type is characterized by seizures in the first months of life with later development of Rett features (including developmental problems, loss of language skills, and repeated hand wringing or hand washing movements). It is frequently caused by mutations in the X-linked CDKL5 gene (Xp22). ...
LINK
Posted on 2/5/18 at 5:44 pm to Chuckd
quote:
Atypical Rett syndrome is a neurodevelopmental disorder that is diagnosed when a child has some of the symptoms of Rett syndrome but does not meet all the diagnostic criteria. Like the classic form of Rett syndrome, atypical Rett syndrome mostly affects girls.
quote:
Despite being caused by a gene mutation, Rett syndrome is rarely inherited. Infants seem healthy during their first six months, but over time, rapidly lose coordination, speech, and use of the hands. Symptoms may then stabilize for years. There's no cure, but medications, physical and speech therapy, and nutritional support help manage symptoms, prevent complications, and improve quality of life.
quote:
Rett syndrome is a rare non-inherited genetic postnatal neurological disorder that occurs almost exclusively in girls and leads to severe impairments, affecting nearly every aspect of the child’s life: their ability to speak, walk, eat, and even breathe easily. The hallmark of Rett syndrome is near constant repetitive hand movements while awake. Cognitive assessment in children with Rett syndrome is complicated, but we know that they understand far more than they can communicate to us, evidenced by their bright and attentive eyes, and their ability to express a wide spectrum of moods and emotions. Finding trusted information is the first step towards simplifying this journey. The information found here is reliable, current and vetted by global experts in the field of Rett syndrome.
This post was edited on 2/5/18 at 5:46 pm
Posted on 2/5/18 at 5:47 pm to prplhze2000
We know a family whose two year old (now 8) was diagnosed with this. Really really hard times are in store for your friend’s family and it would be good for you to offer help whenever you can.
This post was edited on 2/5/18 at 5:48 pm
Posted on 2/5/18 at 11:55 pm to StringedInstruments
What happened to the life expectancy?
Posted on 2/6/18 at 12:21 am to prplhze2000
having a child that is chronically unhealthy is terrifying to me. To the point that I don't think I even want kids and the risk that comes with it.
Posted on 2/6/18 at 12:33 am to prplhze2000
quote:
What happened to the life expectancy?
Shorter life span, can live up to sometimes into their 40's if all is well. Issue is there are so many complications from this that most die pretty abruptly randomly from cardiac arrests and other brain abnormalities before they reach it.
This post was edited on 2/6/18 at 12:34 am
Posted on 2/6/18 at 7:30 am to prplhze2000
quote:
What happened to the life expectancy?
I don't really know a lot of details. I know she lost the ability to talk after being very advanced as a tot. Severe and sudden cardiac issues came on quickly and unexpectedly. Seizures are big issue that would seem to be under control but then suddenly become uncontrollable and constant.
This was a lady my wife worked with, so we weren't too close with them. We've supported their fundraising events for the past few years though.
Posted on 2/6/18 at 7:37 am to prplhze2000
What age was the child diagnosed?
Really hard to diagnose conditions such as these if he/she is s toddler and there are no seizures but just hand movement unless it's very atypical
Really hard to diagnose conditions such as these if he/she is s toddler and there are no seizures but just hand movement unless it's very atypical
Posted on 2/6/18 at 7:53 am to prplhze2000
As always, no child deserves this. Maybe the parents know about CBD and try it early. Best wishes to all.
Posted on 2/6/18 at 7:56 am to prplhze2000
NBC News just ran a story on Rett's Syndrome last week. Richard Engel, their chief foreign correspondent, has a son with the disorder.
LINK
LINK
quote:
Engel and his wife, Mary Forrest, knew early on that something wasn't right with their son, Henry. Even as the boy approached the second year of his life, he couldn’t talk or clap his hands. He also couldn't walk or even sit up straight. The boy’s parents took him to every doctor they could think of.
“It was a mystery and we thought, ‘Okay, well there are late bloomers,’” Engel remembered thinking.
Then the results of the full set of genetic tests came back last September, just around his second birthday, revealing Henry had a genetic brain disorder, a variation of Rett syndrome. The condition is caused by a rare genetic mutation that almost exclusively affects girls. It currently does not have a treatment or cure.
This post was edited on 2/6/18 at 7:57 am
Posted on 2/6/18 at 8:23 am to prplhze2000
I will say a prayer for this family, we don't often think of it, but having healthy children is beyond a blessing.
Posted on 2/6/18 at 8:32 am to 610man
My kids are healthy and we are lucky. Every time my wife wants another it makes me worry about stuff like this. I work with a guy who has a daughter with Rhett’s. He is truly miserable. She requires 24/7 care and they have 3 other kids. I feel like my life is hard some days and then I see him sitting in his office dreading going home. I really worry about his mental stability because he seems completely exhausted all the time and very depressed.
Posted on 2/6/18 at 8:39 am to Sao
Hopefully they can look into this. CBD is great for preventing seizures, among helping with other neurological issues.
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