A Cure for Carmela Rose
It’s true what they say – there is no love like the love you feel for your grandchildren, a joy beyond description, a softness in your heart that makes life just look better. Now in my 70s, time has taken on a whole new meaning.
Of course, I want my children and their families to know that I loved them all beyond measure, and because of this deep love, I want to leave things better for them when I am gone.
As you know, our first granddaughter, Carmela Rose, now 7 years old, has Rett Syndrome, a rare neurological disorder caused by a spontaneous (i.e., not inherited) mutation in a single gene (MECP2) on the X-chromosome. At least 90% of Rett Syndrome patients are girls. The mutation affects a single protein (MeCP2) that is key in being able to translate a thought into an action, such as being able to talk or point. There is a range in severity of this disorder, and severe impairments can affect nearly every aspect of life, including the ability to speak or sing, walk, eat, and breathe easily.
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. We can only imagine what it must be like to be able to understand speech, and want to communicate verbally or through gestures like pointing or sign language, but simply be unable to make your body do that; or to understand and desire to conduct many activities of daily living, but be unable to.
Reasons for Optimism: What gives us hope is that the science has never been more promising. Today, multiple clinical trials aimed at treating the root cause of Rett syndrome are underway. For the first time, we are seeing therapeutic approaches designed to correct or compensate for the MECP2 mutation itself.
With continued research — and the funding required to drive it — meaningful treatment now feels truly within reach. We look forward to the day when Carmela, and others like her, can be released from their neurological prisons. We are determined to help make that happen by donating and asking others to join us. Before Carmela’s diagnosis, I disliked asking anyone others to donate to any cause. But now I advocate without hesitation, because I’ve learned something simple and unavoidable: it is funding — and only funding — that moves this research forward. It truly does take a village so we are reaching out to ask you to please, please join us by donating what you can to help cure this disorder.
We’re asking on behalf of this little girl we love beyond words, Carmela Rose, and on behalf of the 350,000 girls with Rett worldwide — and those still to be born.
Please help us help them.
- Rita and Robin, aka Nana and Papa
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