Dear Friends,
This is a letter no parent ever dreams of writing. Through it; I hope to give each of you a glimpse of our journey and our vision. This is our daughter Rayna.
She is clever, kind and joyful. A ray of sunshine on a cloudy day and a giver of joy to everyone she meets.
Rayna is our second daughter. We welcomed her with eager enthusiasm and the expectation of holding her hand through each milestone. Early on, we began to notice that something was not quite right. Rayna was trying hard and we were there to cheer her on and coach her through, but those magical moments we all celebrated were not happening. Rayna was neurologically delayed and we were anxious and heartbroken.
To quench our anxiety we began knocking on all the medical doors available to us. We visited specialists, engaged in a variety of tests, labs and all manner of diagnostic procedures hoping for an answer as well as a solution. The universal answer was vague; every doctor suggested that many children are simply globally delayed and eventually catch up.
Every day we worked hard hoping that extra efforts would bridge the ever-growing skills gap to no avail. All maternal instincts in me wanted to do more. My gut was telling me to keep digging; and digging I did. In the summer of 2022 thanks to a full genome panel test we were finally given a diagnosis: Our beautiful Rayna has a genetic defect on her 17th chromosome called DLG4. She has a frameshift mutation in which not enough of an essential protein is produced. This defect is the primary contributor to her developmental delays and health issues which include high anxiety, ADHD, hypotonia, learning delays, epileptic spikes and sleep disturbances. In July of 2022 we finally had answers, answers that inducted us into the club of rare disease families. There are only approximately 75 identified children with a mutation on the same gene. As with most rare diseases we were told that there was very little that could be done. All we could do was hope for the best.
Faced with her diagnosis and the realization that there was no instant fix I sank into deep grief. I cried for what could have been, felt hopeless, anxious and unable to see a light at the end of the tunnel. During this time, I wondered if ignorance was bliss, If the pain of having a child with a rare disease would be less if we did not have the full picture. After weeks of walking the journey of acceptance and praying for wisdom I came to the realization that knowledge is a gift. By knowing what is wrong with Rayna we are better equipped to help her, we are empowered to advocate and motivated to be change agents.
Presently there are no therapeutic or pharmacological options to help my daughter but we are ever-so-fortunate to be living in a time when science and technology are evolving at unprecedented speed. Through gene-specific customized research it is very likely that soon existing medicines can be repurposed to treat this condition. Here is where you come in. We cannot walk this journey alone. Research for rare diseases is severely underfunded and only possible when communities work together to fund the research needed to give those affected by this syndrome hope for a better life and eventually a cure.
Remember the ALS bucket challenge? That is the kind of miracle every parent of a rare disease patient hopes for. Through the small contributions of many, research efforts were accelerated and today there are FDA approved medicines that improve the length and quality of life of ALS patients.
Rayna, with all her limitations, is constantly trying her best. She strives to do everything her neurotypical sister does and never gives up. Her determination drives me to advocate for her success. The road ahead is even harder than the one I walked to find an answer, but with your help I am confident that there will be a better future for every child diagnosed with DLG4 Synaptopathy.
Would you partner with us and help us plant seeds of hope?
With loads of gratitude
Payal Patel