Rett Syndrome Awareness for One and All…

‘Hey, did you know that October is Rett Syndrome Awareness Month? Do you even know what Rett Syndrome is?  Read on to find out!’

So what is Rett Syndrome?  This is directly from International Rett Syndrome Foundation’s ‘About Rett Syndrome‘ website, because the author here put it so succinctly and quite frankly I couldn’t have said it better myself.

Rett Syndrome:

• is a unique developmental disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys.
• has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay
• is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.”
• strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births.
• is a developmental disorder. It is not a degenerative disorder.
• causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion.
• symptoms appear after an early period of apparently normal or near normal development until six to eighteen months of life, when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands. Soon, stereotyped hand movements such as handwashing, gait disturbances, and slowing of the normal rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns while she is awake. In the early years, there may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve.
• is confirmed with a simple blood test to identify the MECP2 mutation. However, since the MECP2mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome. Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on signs and symptoms that you can observe) or both.
• can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.
• presents many challenges, but with love, therapy and assistance, those with the syndrome can benefit from school and community activities well into middle age and beyond. They experience a full range of emotions and show their engaging personalities as they take part in social, educational, and recreational activities at home and in the community.

So why I am talking about this disorder here?  Well let me give you a small background on how I first became aware of Rett Syndrome.  As most know, I blog pretty much daily here about my own life’s little ups and downs about my husband and kids.  Well, I actually belong to a group on Facebook with many other wonderful individuals who also are a part of the blogging community.

That is where I first met Kori Dryhurst Coates, she too is a member of this group an is the mom to a wonderful little girl, Emlyn, who is 6 years old and has Rett Syndrome.  Kori decided to take to her blog and share about Rett Syndrome first as more of an awareness and then told of her own personal story when Emlyn was diagnosed with Rett Syndrome.  Emlyn, by all accounts is truly a doll and such a true inspiration to me.   I took one look at her face and just couldn’t help, but fall a little bit in love with her.  See for yourself here:

This is from Kori’s Blog post about Emlyn and how they found out she had Rett’s Syndrome: “It was May 23rd 2008 that my daughter Emlyn was diagnosed with Rett Syndrome. Emlyn is almost 7 now, but on the day we learned she wouldn’t likely ever walk, or talk, she was only 2 years old.  That was the day I learned she would suffer from epilepsy, scoliosis, and breathing irregularities. She was 2 when the future I envisioned for our family exploded and shredded our family with shrapnel. It was the worst day of my life…May23rd 2008.”

I truly cannot imagine what Kori felt, but from her post, I tried very hard to put myself in her shoes even for a moment, because I too have two little girls and I could truly feel her pain as she wrote this and to be honest didn’t want to think what I would have felt if this had been me getting this diagnosis for one of my kids.

However, Kori is a very strong woman who more than stepped up to the plate and explains here just how:  “For me the turning point came when I reached out and asked for help. It was one of the most courageous things I’ve ever done. Some of my readers know me well, but some of you don’t – so I’m going to share a little secret – I kinda like being in control of myself.”

That part I could relate to, because I am a bit of a control freak too and would most likely have a hard time asking for help too if I had to.  That said she did just that and now Emlyn is a beautiful seven year old little girl and Kori is a part of Cure Rett which In Kori’s words is:  “The Care mission of Cure Rett is to help families. To help them in the early days as they come to terms with a new diagnosis. To help them in practical ways if they want to become more active in fundraising and advocacy. To help them reach out and connect with others in the Rett Community. To enable them to play a part in directing funds to the research that will hopefully Cure Rett.”

Kori is giving back in sorts to help others who are getting that grim diagnosis and need a bit of help and guidance, too.  She is an integral part of this campaign and she and Emlyn were even written up in the Sun Newspaper in England along with others, too. See for yourself the writeup here.  Kori has become the Director of Family Support & Advocacy for Cure Rett.  This is Kori’s page here.  And the ‘what is Rett Syndrome page’ is here.

I must tell you the more, I read about Emlyn and and other kids just like her the more I couldn’t help, but want to do my part.  So, that is exactly what I am doing today and spreading the word about Rett’s Syndrome and Cure Rett for Emlyn and all the other children that have this disorder.

If you would like to get more information on Rett Syndrome or join in the cause please click here.  Or join them on Facebook or Twitter, too.  The more the merrier, as the message needs to be put out there for one and all.  Any help is very much appreciated and even just by spreading the word you are helping.

Thanks for taking the time to read and care, too!!  Now, I had to share U2’s Sometimes You Can’t Make It Your Own, because it just reminded me of this truly wonderful cause:

 

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