I’ve been in the keys full time for 10 years. My husband, Travis, and I met down here. We have two children. Our 5 year old son, Reef, is just going into kindergarten at Treasure Village this year. He is amazing. He is an amazing big brother. It’s like God knew what was in the cards for us when he gave us Reef. He has a huge heart, is super sensitive, compassionate, an animal lover (he wants to be a vet)…just an amazing kid. He is wise beyond his years.
And, we have a daughter, Stella, who is 3 ½. In my heart, I knew that something wasn’t right from her first cry in the hospital. It sounded like a pain cry to me, and I just felt something wasn’t right. But all the tests coming out of the hospital were normal. Everything seemed to be okay. There was nothing out of the ordinary, except that maybe she wanted to snuggle with me a little extra.
But, she cried a lot from the beginning. It seemed like something was wrong in her stomach and she cried a lot. At 9 months she wasn’t rolling over; she would scream if you put on her on her stomach, and hold her body stiff as a board. She startled easily, she was non-verbal, she was spitting up a lot, losing weight. So at that point, Dr. Zuba (who is amazing! We have a dream team!) suggested we go up to Miami Children’s Hospital. To be told that your daughter needs to see a neurologist and a geneticist at 9 months old is crushing. You want everything to be perfect. But at the same time I wanted to know.
After about a month we got in and they started running every test you could imagine. I’ve seen more sticks in her in her 3 ½ years of life than I’ve had in my whole life. But nothing came back. The doctors were saying that something was still not right. I was told that they would do this last test; it was a full genetic breakdown and chromosome mapping. The wait was 6 months for results. So, the 6 months go by, and I’m thinking that she’s doing better, and that they aren’t going to find anything. She’s just Stella; she’s just going at her own pace. I went up to Miami to get the results; my husband had to work, so I just went up alone thinking it would be nothing. I remember it was March 12, 2015. I remember it so vividly. The doctor came out and said, “We have a MECP2 gene mutation, which is considered Rett Syndrome. It’s not pretty; it’s not going to be easy. Just go home. Don’t look it up until you get home. Just take her home, and try to keep her comfortable and happy.”
Well, of course I look it up while I’m waiting for my car. I cry just thinking about that moment. It was the worst punch in the gut. The worst I ever felt. This is my littler person. All I wanted was this little girl. I had dreamed about the dances, the proms, all the things that she would never have. There is no cure. All you can do is treat the symptoms, which is what we are doing with therapy.
It was such a tough day, but every moment of it is so vivid. And Reef wrote his name for the very first time that day. It was completely over shadowed by the diagnosis of his sister. He was so excited, but I was crushed. I still feel guilty over that. And his whole life is going to be like that. That’s another side of the Rett family. It’s not just the Rett child, not just the parents; it’s the siblings as well. That’s why I am fighting so hard to cure this disease. If I can keep one family from having to deal with this, keep one brother from having to face what Reef has to face, keep one parent from having to feel this gut wrenching pain we’ve had to feel. That is my goal.
It’s comparable to ALS. Where ALS starts to take away your functions as an adult, Rett, does it as a child. They progress fairly normally up until the first 6-18 months of age, and then they start losing the skills they already had. Stella seems to be rewriting history right now. We’ve worked so hard with her she is actually progressing, not regressing. She does not have words right now, at 3 ½ she’s non-verbal. Communication is with cues, she speaks with her eyes. But, she and I communicate; I usually know what she wants. She is in there. She is this beautiful, amazing, funny, charismatic person…she’s a stinker! She’s just trapped inside a body that doesn’t work.
Because of Rett Syndrome, a protein in the brain doesn’t go to the muscles to tell the muscles what to do, and if you think about it, your body is run by muscles - your heart, your lungs, everything... It’s very common for these girls to have a completely normal day, and then not wake up because that protein didn’t go to the lungs or the heart, and they stopped working. So every morning that she wakes up is a blessing. And every morning that she sleeps in, I lay in my bed with my heart pounding in my chest praying to God to let me hear her on the monitor. Then I hear her, and I breathe. And it’s like that every day. It’s been like that every day and it will always be like that every day. But I’m not complaining because she has opened our eyes to so much. We find ourselves being so much more loving and perceptive to others feelings and problems and situations. Her story is one that everyone needs to hear. It’s so positive. Our lives have certainly been changed by her.
As a family, she has made us stronger. But, it’s not easy. I think, in some ways it’s harder on Travis, my husband. He is such a “fixer,” and he can’t just “fix” her. But, he is so strong, and we are each other’s rock through all of this. We both refuse to give up on Stella. And, right now, Stella is doing really well with all the therapy. We are hammering in muscle memory with her. We do physical therapy, speech therapy and occupational therapy.
We recently did 3 weeks at Island Dolphin Care. She is doing amazing with that. We have seen so much improvement in the 3 weeks. She has her own dolphin, Sarah, who has taken to her and Stella loves her. We took Stella there for a visit with her school a week before, and while we were there, there was one dolphin that kept swimming around with one eye out of the water, watching Stella. There was definitely some kind of connection there. A week passed, and then they invited us to come for a swim. Well, Stella had her2 dolphins, but there was this one dolphin that kept leaving her “clients” and swimming over and booting out one of Stella’s dolphins. We found out it was Sarah and she was the one who was watching Stella the week before! They have a special bond. She does things with her that her trainers have never done. Stella will hop up on her back and put her hand right next to her blow hole to hold on, and that’s something that’s never done. It’s unheard of. But Sarah parades her around the lagoon and Stella rides like a princess. Yesterday, Sarah offered up her tail for Stella to sit on. And again, that’s unheard of. It’s been great for Stella.
I try my hardest to give her every opportunity humanly possible. Everything any other kid can do, she can do. I’m not going to take no for an answer. We’re going to try, try, and try. She might be slower than other kids, but she’s going to do what she wants to do. The fact that she is walking is a miracle; the doctors told us she would never walk, and she has been walking for a year now. They said she would never feed herself with her hands, and she feeds herself with a fork. She’s learning sign language. Everything they said she would not do, she is doing. The sky is the limit for her.
We were advised not to send her to school because her immune system is weakened, but of course I sent her. Before her diagnosis I had started her at upper keys Montessori and I left her there. It’s challenged her in every way. She is out there walking around the playground with friends every day. They say Rett Syndrome is the most severe form of autism. Many autistic kids don’t connect to friends, but she definitely connects. They come to her. They take care of her. She is teaching this new generation compassion. I hear from other moms that their kids, boys and girls, come home talking about Stella. There is something about the beautiful spirit trapped inside this little girl…she’s bringing people together in such a way. She has rallied this community. That’s where the Purple Pumpkin Gala comes in.
We had 6 months of pretty dark days immediately following the diagnosis last spring. I remember it was October and we were getting ready to go on vacation, when I decided, “Enough.” I knew we needed to figure out how to move on and make something positive of this. So I decided on purple because it’s the Rett color. And it was October so I thought of pumpkins. October is Rett Syndrome awareness month, and I decided to bring it all together and the Purple Pumpkin Gala was born. I texted my friend Stephanie and she said “Let’s do it.” I really just wanted to have some silly little pumpkins for people to put in their window sills. For every picture that was posted of someone with one of the purple pumpkins, we donated a dollar to Rett Syndrome. By the time I got back from vacation, Stephanie had all these pumpkins, and she was going around town telling people what Rett Syndrome was… Without my friends, this would not have happened. By the end of the month, we had over $2,000 donated, and then we matched what was donated. It was amazing.
Last year I wasn’t even thinking about the money as much as I just wanted to raise awareness. But we decided that next year we would concentrate more on raising the money. “Next year” is coming up in October. We have pumpkins that have been painted by 12 of our local artists. They have created 3D master pieces. We had a Sponsorship event, and the pumpkins were all up for sponsorship and every single one got sponsored. Over the next few months, the pumpkins will be on display in local businesses and you can cast your vote for your favorite. The ones that get the most votes will be up for live action at the gala. 100% of donations toRettSyndrome.org go to research.
Early intervention is the answer. Some doctors tell us that we are a lucky case. But I think it’s because of early diagnosis, and working so hard with her. That’s why awareness is so important. We are so close! She is in there, and she is trying so hard to break through! She works harder than anybody I know. She is my hero!
And, they are on the verge of a cure for Rett Syndrome. They are in stage 2 clinical trials right now with a drug that is getting funding because it has broken the brain barrier. It could benefit not only Rett Syndrome, but Alzheimer’s, Parkinson’s, serious head injuries and so much more. It’s huge. We are sitting here talking about a disease that hopefully won’t even exist 10 years from now.
For now, we live every day like it’s our last, while constantly preparing for our future. Our son Reef is absolutely amazing with Stella. The other day she was swimming in the pool. For the first time I was able to let her go. Of course she had her inflatables on, but before that her head would tip forward or she would roll over if I let go. But, last week she started swimming on her own. Reef grabbed her hands and started spinning her. He was able to dance with her in the pool! He said, “I’m just spinning, Mom, she’s dancing.” He loves her so much. He said to me, “I’m gonna spoil the rotten out of her!”
You can’t live every day being sad. Just rejoice in every moment. Every day that we have with our daughter we celebrate. She is the inspiration behind the Purple Pumpkin Gala, but the community is what made it happen. We live in a magical place. It has renewed my faith in a lot of ways.
The Purple Pumpkin Gala will be held October 1, at the Islander Resort. We got some exciting news recently… country entertainer Kevin Black, older brother of Clint Black, and a father of a Rett angel, will be attending the gala to share his story of life and loss with Rett Syndrome, as well as to entertain at the event.
To buy tickets for the gala, make a donation or just find out more, go to: