It’s true what they say – there is no love like the love you feel for your grandchildren. It is a joy beyond description, a softness in your heart that makes life just look better. And knowing that life is truly short when you hit your 70s, time takes on a whole new meaning. I think about what matters most, what I want to be sure I put in motion for the ones I leave behind. I want my children and their families to know that I loved them all beyond measure, and hope that will give them some comfort when I am gone, and that they will have good memories to revisit in addition to the memories of how annoying I surely can be at times!
The surprise of my old age has been experiencing this indescribable love I feel for my two grandchildren. I thought the love I felt for my children would never have any rival. I was wrong and everybody told me – you just wait until you have grandchildren. They were right. Carmela Rose was born in 2018 and her little sister, Weezy was born 15 months later in 2020. It was and is a joyful and extraordinary time.
And then came the biggest surprise. A few months after Weezy arrived, Carmela was diagnosed with Rett syndrome. I still struggle not to cry at the mere mention and memory of the day. As Monica so wisely says, my heart broke twice, once for Carmela and once for her parents.
Rett syndrome, which affects 1 in 10,000 girls and 350,000 worldwide, is a rare neurological disorder, caused by a spontaneous (i.e., not inherited) mutation in a single gene (MECP2) on the X-chromosome. 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 the disorder, but severe impairments can affect nearly every aspect of life, including the ability to speak, 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, but be unable to make your body do that; or to understand and desire to conduct many activities of daily living, but be unable to. We are heartened, however, by how exciting basic science and pre-clinical research is now leading us into the first clinical trials directed at treating the single gene mutation disorder in Rett syndrome. With enough research, and of course enough money to fund it, successful treatment of Rett syndrome now seems quite doable. My husband and I look forward to the day when Carmela, and others like her, can be released from their neurological prisons and we are determined to help make that happen.
I love the poem “When I am an old lady I shall wear purple”. It always makes me smile. I am an old lady now at 73, and I know that I don’t have forever to do what matters most to me. So, in addition to wearing purple, I am wearing my heart on my sleeve and telling everyone I know about Carmela and Rett syndrome.
I am not comfortable asking for anything from anyone – most especially for money. But I have learned it is money, and only money, that stands in the way of curing this cruel disorder, money to fund the expensive and necessary research toward the cure for Rett syndrome. I have located my courage, my humility, and my determination to do what I can to help find this cure. It truly does take a village so we are reaching out and asking you, actually begging you, to please join us by donating what you can to help cure this disorder. We are asking on behalf of this little girl we love beyond words, Carmela Rose, and on behalf of the 350,000 girls with Rett worldwide. Please help us help them, and all the little girls yet to be born.
With love,
Rita and Robin, aka Nana and Papa
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| Name | Donation Amount | Date |
|---|---|---|
| DAVID THETFORD | $1,000 | October 13, 2024 |
| Wes and Jenn Johnson | $250 | October 12, 2024 |
| Robin Brookins | $100 | October 11, 2024 |
| Rita & Robin Bostick | $5,000 | October 08, 2024 |