In honor of October being national Rett Syndrome Awareness Month, Today I have a personal story to share……
As my last long term nanny position ended, I was at a point I did not know where I would land professionally. I did not know if I would find a new family that I loved just as much, be unemployed, or join the corporate world outside of the nanny profession. I am a firm believer that everything happens for a reason. It did not take me long to find a new family to nanny for. Luckily for me I found a wonderful family. They had three awesome kids that I spent every week with for a whole year. I feel so blessed to have worked with this family, and that I was able to have the opportunity to help their children learn and grow. Prior to working for this family I had a good deal of childcare experience. When I meet this new family and their children I knew they were a great fit for me. Little did I know how much of an impact one of their children would have on me. Their little girl Emery is a beautiful, adorable, loving little girl. She is turning 3 this October. Emery had a speech delay when I started watching her. She also took her own time learning to roll over, crawl, walk, and talk as she grew. She was evaluated by her pediatrician, and it was decided she needed speech therapy and physical therapy. While Emery was in my care I saw her through almost a years worth of speech and physical therapy. It was the best thing seeing Emery learn and reach her goals. It was finally decided that Emery would have a genetics test done that would let us know if she had any of the 2,000 genetic disorders. The test came back and after the results were evaluated, and Emery was evaluated by a team of specialist, it was decided that she has Atypical Rett Syndrome. The good news is that Emery has an atypical form of Rett Syndrome (see information on Rett Syndrome Below). which means she is not expected to have a sudden loss of skills. Instead, they are expecting a combination of slow progress and plateaus. Emery is likely to need extra care for life. Emery’s parents would like to increase Rett Syndrome Awareness. Since Emery is so dear to us at Charlotte’s Best Nanny, I am posting this blog to help raise Rett syndrome Awareness as well. I have been truly touched by this beautiful, sweet little girl, and if this blog informs even one person about this condition my goal has been reached . Below is information on Rett Syndrome, and a few ways you can donate to finding a cure for Rett syndrome.
What is Rett Syndrome?
Rett Syndrome is a rare neurological disorder that is first recognized in infancy and is most often seen in girls. It is caused by a mutation on the X chromosome on a gene called MECP2 (pronounced “mec-p-2”). There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.”·
Rett Syndrome 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, with the loss of communication skills and purposeful use of the hands. Soon, stereotyped hand movements such as hand washing, 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.
Rett Syndrome 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.Emery’s parents have started a fund raising site for The International Rett Syndrome Foundation at: http://www.rettsyndrome.org/
Charlotte’s Best Nanny Agency will be selling Lavender Bracelets to raise awareness form Rett Syndrome. All proceeds from the bracelets will go directly to the fund Emery’s parents have set up. All Bracelets are 2.00.
Rett Syndrome is a rare neurological disorder that is first recognized in infancy and is most often seen in girls. It is caused by a mutation on the X chromosome on a gene called MECP2 (pronounced “mec-p-2”). There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.”·
Rett Syndrome 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, with the loss of communication skills and purposeful use of the hands. Soon, stereotyped hand movements such as hand washing, 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.
Rett Syndrome 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.Emery’s parents have started a fund raising site for The International Rett Syndrome Foundation at: http://www.rettsyndrome.org/
Charlotte’s Best Nanny Agency will be selling Lavender Bracelets to raise awareness form Rett Syndrome. All proceeds from the bracelets will go directly to the fund Emery’s parents have set up. All Bracelets are 2.00.
There are many wonderful scientists and doctors working tirelessly to find a cure for Rett Syndrome. The IRSF is funding many cutting-edge research projects, and we are fascinated and encouraged with the findings. The MECP2 mutation was identified only 15 years ago. Since then, scientists and doctors have made tremendous progress toward treatments and a cure. Perhaps the most promising is the finding in 2008 (merely 5 years ago) that Insulin Growth Factor showed potential to REVERSE Rett symptoms in animal models. A Phase II clinical trial of treatment with Insulin Growth Factor is currently underway at Harvard and IRSF is helping to fund it. We truly believe that the cure for Rett Syndrome lies in the cutting-edge research being funded by IRSF.
We believe the effective treatment and a cure is imminent, and Rett Syndrome research has become our family’s cause. We need your help to contribute to this research. The IRSF is a very worthy organization, with almost 90% of every dollar going directly to program research. The IRSF has also achieved Charity Navigator’s highest rating. We would be so grateful if you would consider a donation to the IRSF. We would like to raise as much as we can in October for Rett Syndrome awareness month and in honor of Emery’s birthday. In the meantime, please keep these girls in your thoughts and prayers, and please help us spread the word about Rett Syndrome.
