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A Breakdown of Rett Syndrome

This is a post courtesy of one of our good friends @kingswagger29

My sister suffers from the rare neurological disease called Rett Syndrome.

Rett Syndrome is a disease that is going unheard of because it’s only found in girls.

Help Us Raise Awareness For Rett Syndrome!

Rett Syndrome is a form of Autism.

This is a disease that stops a girls production of life. Rett Syndrome is beginning to take medical advances to reverse the process.

I wanted to post a blog about this disease, for individuals who don’t know about the disease, and for parents who have daughters that may show signs of Rett.

I have been around Rett Syndrome for majority of my life. I feel that it is time to have Rett Syndrome known among all people.

What is Rett Syndrome?

Rett Syndrome is a disorder of the nervous system that leads to developmental reversals, especially in the areas of expressive language and hand use. Rett only is shown in girls, either at an early age or when they are around 6-7.

Causes of Rett Syndrome?

Exclusively in girls and may be misdiagnosed as autism or cerebral palsy. Studies link the disease with the defect in Methyl- CpG- binding protein 2 (MECP2) genes. This gene is on the X chromosome. Females have 2 X chromosomes, so even when one is defective, the other X chromosome is normal enough for the girl to survive. If a boy is to somehow be diagnosed with Rett Syndrome the survival rates are low, because they only have one X chromosome. Resulting in miscarriage, still birth, or early death. The Condition affects 1 out of 10,000 children.  Groups of the disease have appeared in Italy, Sweden, and Norway.

Symptoms – Infants usually have normal development for fist 6-18 months. Symtopms range from mild- severe.

Apraxia

Breathing Problems

Change in Development

Excessive Saliva and drooling

Floppy arms and legs- usually first sign

Intellectual disabilities and learning difficulties

Scoliosis

Shaky, unsteady, toe walking

Seizures

Slow head growth- beginning at 5 months

Loss of sleep patterns

Severe language development problems

These are the main symptoms, but don’t be alarmed…not all of these symptoms occur. The main one that occurs is the Seizures. However, all the Rett girls all look like ordinary children. They all are beautiful girls, especially my little sister.

Signs and Tests

Genetic testing may be done to look for the gene defect associated with the syndrome. However the defect is not indentified in everyone with the disease, diagnosis is based on the symptoms.

Different types of Rett Sydnome

Atypical

Classical- (meets diagnosis criteria)

Provisional-( symptoms show at age 1-3)

Classified as Atypical when it begins early at birth or late at age 3-4. Their speech and hand skill problems are mild. Also if this appears in a boy (very rare).

Treatment

Assistance with feeding and diapering( Some may need a feeding tube, to help with feeding)

Physical therapy to help prevent the hands from contracting

Weight bearing exercise to help with Scoliosis

This is just a general description of Rett Syndrome.

I want people to know about this disease, so they can help in supporting the research that is being taken place to reverse the process in the X chromosomes. The girls need a chance to have a normal life, if not them then the ones who are born into the world at least.

A great support group site if people are interested or have more questions is  www.rettsyndrome.org.

Rett has taken a step further and have launched an awareness campaign in Times Square, check it out @ http://www.rsrt.org/about-rsrt/press-releases/rett-syndrome-research-trust-launches-awareness-campaign-in-iconic-times-square-location/

-Anthony Rizzo

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2 Responses to A Breakdown of Rett Syndrome

  1. katelyn barringer says:

    i wish you all the best with your sister. but you will get through it you just have to be strong. and i go to boces and i have this big project i have to do and present for teachers well i do wish you the best. and i have a 9 year oul sister with rett syndrome. my little sister was the youngest one diagnosis with rett syndrome in the united states. unlike most little girls my sister was in the third stage by the time she was 3. i really hope that you can manage to get through it. and i will try manage to get through to

  2. tovah11 says:

    Thank you for educating us on Rett Syndrome.

    I had never heard of it before.

    All my good thoughts are sent to you and your sister.

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