Toast to a Cure is an annual event that raises funds for the International Foundation for CDKL5 Research (IFCR), a charitable organization with an all-volunteer staff (parents of affected children) that has been the forefront of expanding the research efforts surrounding CDKL5 Deficiency, both scientific and clinical, while helping affected individuals and their families to thrive.
CDKL5 Deficiency Disorder (CDD) is a seizure disorder which affects how the brain cells connect. It is named after the gene involved and is the result of a random alteration in the gene prior to birth. The seizures are difficult to control and most of the children affected have significant motor and cognitive delays, gastrointestinal problems and vision issues.
Why a "Toast"?
Now on its 6th edition, Toast to a Cure raises a glass to the dream of a future where a cure is available, and to the incredible, resilient children affected by CDKL5 and their families.
It will take all of us to help move CDKL5 research forward, so we hope you'll join us this year and virtually toast with us from near or far! Donations are accepted both electronically and via mail; no gift is too small, and every contribution helps fund ground-breaking research to create treatments and a cure for CDKL5 Deficiency that could change the future for so many families.
THANK YOU, from the bottom of our hearts.
The Story Behind The "Toast"
Toast to a Cure is a fundraiser organized every year in Lexington, KY, by Dr. Martha and Paul Boyles in honor of their sweet daughter, Elsah, and her special friends who are also affected by CDKL5 Disorder.
Martha and Paul tell Elsah's story:
2005 was an exciting year — soon to be first-time parents, we had a wonderful pregnancy and getting ready for baby’s arrival was all new to us. Elsah was born on Dec. 2, ten days overdue but our little girl was perfect!
We had some early trouble with reflux and weight gain but nothing too unusual, until her first “spell” at six weeks of age. Being brand new to parenting (even though mom is a veterinarian), we weren’t sure that all was okay but Elsah’s pediatrician thought it was most likely benign newborn jitters that she would soon outgrow. The “spells” did subside some but by five months we were worried since Elsah was not batting at toys or making good eye contact. She preferred to look out windows and I thought ‘Oh we have a nature girl’ but now we know she was visually seeking the light.
That started us down the road to a diagnosis of cortical visual impairment (CVI) that led quickly to an infantile spasm (IS) diagnosis as her seizures worsened at six months. Then came three weeks in the hospital followed by lots of different medications. A visit to Dr Chugani at Wayne State University in Detroit when Elsah was almost 12 months old resulted in using Vigabatrin which has been the most helpful anti-epileptic drug for Elsah so far. Elsah also started on a modified Atkins diet for her seizures when she was 15 months old. It took about six months to fully see the beneficial effects of the diet but it was key for getting a good level of seizure control. A metabolic specialist physician was also instrumental in helping Elsah with an in depth work up and prescribing some high dose B vitamins, minerals and specific enzymes that are shown in her blood work to be inactive or suboptimal.
Elsah had a honeymoon period after beginning on the metabolic supplements from age three to four and a half years when she only had a handful of seizures. We saw such improvements in her motor, speech and cognitive development during that time it was encouraging. Unfortunately, her seizures skyrocketed in the summer of 2010 when we tried a medication change and that lead to an almost complete loss of her ability to swallow. It was a difficult year but with diligent oral motor therapy she was able to regain her ability to swallow after roughly six months. Improved swallowing allowed her to get back to her Modified Atkins diet which again proved to be critical for her seizure control. Because of her intense struggles in 2010, that ultimately led us to the CDKL5 Deficiency Disorder (CDD) diagnosis in March of 2011. The testing to pinpoint CDD as the cause of Elsah’s seizures, developmental delays and other constellation of issues had only been recently refined.
We are thankful that there has been so much progress since 2011 in identifying CDKL5 disorders earlier, in understanding the underlying neurobiology, and in developing CDD focused treatments. How Elsah lives and learns makes so much more sense to us now and helps us to be better parents. She has enriched our lives beyond what we could have envisioned back at the start of this journey.
As Elsah’s story continues to unfold, our hopes for her future also have grown. A gene based therapy that was unimaginable just 9 years ago is almost within reach for children with CDD. Elsah does not see any limits and this reminds us daily to stay open to possibility.