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Friday benefit seeks cure, better treatment for Rett syndrome

Lisa Flick, of Williamsville, emailed this story to me this week about her daughter, Rachel, who has Rett syndrome, a rare neurodevelopmental disorder that strikes late in pregnancy or in the first few months after birth and afflicts girls almost exclusively. The inability to use properly use the hands leads to more degenerative mental and physical challenges that often can be misdiagnosed as autism or cerebral palsy.

Rajat and Jenny Shah, along with Rachel's grandparents, Peter and Suzie Rivo Solender, have helped organize a fundraiser to benefit the International Rett Syndrome Foundation.

Hustle for a Cure takes place from 7 p.m. to midnight Friday in the Harbour Club at First Niagara Center. Tickets cost $125 per person or $225 per couple and can be ordered  here.

Meanwhile, here's the story:

Our beautiful daughter, Rachel Julia, was born on Jan.17, 2009.  She came into our world and was immediately taken to the NICU due to fluid in her lungs. She spent 16 long days there, only to come home and develop RSV. She spent six days at Buffalo Children’s Hospital.

Once Rachel was released, we began to live our lives with our new daughter and her older sister, Jenny.

Rachel developed normally, meeting all her milestones slowly, but eventually she acquired skills like holding her head up and babbling “da-da”, “baba” and “ma-ma.”

We noticed a change when she was about one year. We took her to a developmental specialist at Children’s Hospital. Rachel was slowing down meeting her milestones and was losing her babbling. The doctor suggested early intervention to help her and they would see how it went. Rachel stopped
developing new skills, which led us to Pittsburgh to see a specialist there.  Many tests were run over the period of one year and all the results were normal. It was suggested that we see a genetic doctor in Pittsburgh who decided more tests needed to be performed. This tim,e the test for Rett syndrome was performed. It came back on June 29, 2010 and it was positive. We will never forget that day.

My husband, Jack, and I were very surprised and we wanted to learn as much as possible to help our precious daughter. We saw a Rett syndrome specialist in New York City and made connections with IRSF.

Rachel is now 4½ years old. She is non-verbal, has use of her right hand and has been trying to learn to walk with a walker. Due to Rett syndrome, she has no balance which makes it hard to walk. Rachel attends pre-school five half days each week (due to fatigue she isn’t able to do a full day yet) at Summit Educational Resources, where her teachers and therapists work with her to help her achieve and maintain skills. At home, we work with her to practice standing (we have a stander), walking, using her hands to her best ability. Soon we hope she will have a communication devise to communicate her wants and needs. It is so frustrating for us and Rachel when she knows what she wants and cannot express it. Rett children can show a lot with their eyes but not be able to tell us.  As parents, you want to help your children and make everything better for them. With the lack of communication and cure for this disorder, it makes days at times very difficult for her, for us as parents and her sister.

We pray every day that somemedication will become available to help our little girl who so badly wants to come out of her little body and be like typical children.  We love her so much and show and tell her every day by working with her, hugging her and giving her the best treatments available at this time.

Rachel is a sweet little girl who is loved by all who come into contact with her.  Her beautiful blue eyes say so much to us and we are so proud of all she has accomplished in her 4½  years, and look forward to many more accomplishments  and years of loving her. Every smile brightens our day.

To this day she struggles with a low immune system, which means she gets sick frequently. When she gets a cold, it means one week of her struggling, using her nebulizer and other medications. We worry about her contracting something constantly. She also suffers from bad reflux. It is so hard to keep her from laughing and jumping around after she eats. If we don’t keep her still, she spits up. We need everything that she can take in to keep up her weight.

Rett syndrome has affected our entire family as well as our extended family.  We so badly need a cure so all the Rett angels and their families can live normal lives.

-- Scott Scanlon

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About The Refresh Buffalo Blog

Scott Scanlon

Scott Scanlon

Scott Scanlon is an award-winning reporter and editor who has covered various topics in his quarter-century as a journalist in South Florida, Syracuse and Buffalo. He is aiming to pass along what he is learning these days about health, fitness, nutrition and family life.

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