https://www.rettsyndrome.org/blog/NNZ2566-participants
I deleted surnames.
NNZ- 2566 Clinical Trial – The Families Who Participated
December 23, 2014
Many of you know Geraldine (aka "Cake") from Virginia and her daughter Amanda. We know her as a strong, capable, intelligent advocate and mother, who always has a smile on her face and a “can-do” attitude. But there is more depth and detail to her life story than most of us know and she is willing to share a glimpse with us. Her story reflects the lives of every family who took part in the Neuren Pharmaceuticals NNZ-2566 Phase 2a clinical trial. Her story shares similarities with every family who takes part in any of the clinical trials being conducted around the world for Rett syndrome.
"AJW - How do you describe a child, the youngest of four children, who is both a joy and burden at the same time? How do I put into words that feeling we get when she does laugh out loud or give us that angelic smile and small chuckle? She is Heaven's very special child and we do all we can to make sure her quality of life is as good as it can be.
I gave up my career to come home to take care of her and her dad retired from law enforcement in 2007 so that we could be full-time parents to our daughter. Since then, Amanda's dad has had to have five back surgeries and his right knee replaced, and we both have had carpal tunnel surgery on both hands. Yet, here we are, traveling from Virginia to Baltimore, Maryland and to Houston, Texas just to get her to doctors who specialize in Rett syndrome.
We left Lawrenceville, Virginia on Friday, August 29, 2013 to travel to Houston, Texas and returned home on Sunday, October 13, 2013 so that Amanda could be a part of the Clinical Trial for NNZ-2566, a drug that would hopefully provide some help for women stricken with Rett syndrome. Amanda was admitted into the actual clinical trial for the drug NNZ-2566 in Houston, Texas on Monday, Labor Day, September 2, 2013. Her last day in the study was Thursday, October 10. It was so wonderful to be in a place where everyone understood what we were talking about and what families with a loved one with Rett go through. The study team of doctors and their assistants was phenomenal to say the least. We are so overwhelmingly grateful for all of the prayers, cards, words of encouragement and financial help we received from friends, family and even total strangers who helped us take Amanda to Houston for this study and helped us be able to stay there for the full 40 days. We know that God is in this because we could not have done this alone.
Their help and continued encouragement continues to be the wind beneath our wings.
This was a double-blind placebo/medication test so we understood going in that there was a chance that Amanda would not get the actual medication but the sugar water placebo. As it turns out this is what appears to have happened with Amanda as we did not see any changes in her behavior at all; but God has a way of working things out for our good even when we do not know what to pray for. I say this because we did get to meet and talk with other parents who saw tremendous differences in their daughters’ behaviors only to see regression when their time in the trial was over. This gave us such great hope in the face of great discouragement that there is a cure out there. We continue to pray that this medication continues to be fast-tracked, made available very soon and that it accomplishes its purpose to tremendously improve the quality of life for adolescent and young women with Rett syndrome, as well as help anyone who may suffer from traumatic brain injuries or strokes.
We are even more excited and more hopeful now with the latest report from Neuren Pharmaceuticals that we are now reading while Amanda's dad is recuperating from back surgery number six and I am putting off surgery for a torn rotator cuff in my right shoulder.
This journey is not easy but has been and continues to be a tremendous learning and unconditional loving experience for us. There is light at the end of the tunnel and it is shining bright for the world of Rett syndrome."
- James & Cake
Think of these brave, committed families. Know them. Understand what they are giving to help all of us touched by Rett syndrome and the many related disorders, large or small, which might be helped by a breakthrough Rett therapy. Their choice is not an easy choice. It should be easier, and we at Rettsyndrome.org are working with families in mind, to help future trials be designed for our families and their challenges, to be considered as just as important in the design of the study as what the FDA requires for scientific validity. One example is why we have encouraged the Natural History Study PIs to include eleven (11) sites total; to ease the distance for families to participate.
When you decide who to support, or what you can give, please think of Cake and Amanda, and realize we all can do more. We should and we will do more to help our children.
If the very families that have given decades to the caregiving of their children have been able to go the miles for research, then so can we. They put the love of their daughter first. Always. And so do we. Their labor of love has not broken their spirit, their hope, or their faith, trust, and belief in our work. If we could excuse anyone for not having the time, energy, or ability to participate in a clinical trial, it would be this generation of parents. But they did not let us down, and we are just so proud, and so grateful, for each and every one of them, for not giving up when the road gets tough. Look into these eyes. You’ll find strength, courage, a twinkle of joy and hope, and most of all, love and understanding. Embrace this, and let the spirit of empowerment move you, too, in 2015 and beyond.
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