Helping Hands for GAND hosted its Biennial Gathering and Scientific Conference in July. Helping Hands for GAND was able to have this in-person gathering in part because of a RARE Meet-Up grant awarded earlier this year. They were one of several Global Advocacy Alliance members to receive grants for similar events. GAND is an ultra-rare genetic disorder in which the GATAD2B gene, an essential gene for normal cognitive development, is mutated. Some of the attendees shared their experience with GAND, and what they learned at the conference. Emeline De Souza, mother of John Ryan Fernandes, shares below:
Please tell us about your connection to the GATAD2B mutations. Include any information about your family, where you live, how far away treatment centers and specialists are, your support system, etc.
My name is Emeline De Souza, my son John Ryan is 19 months old and we just recently received a diagnosis of GATAD2B gene mutation back in late May of this year (2022). We live in South Plainfield, New Jersey near much of our family and that really has been key in going through all this. We do occupational therapy two times a week, physical therapy once a week, developmental therapy, feeding and speech therapy as well. We do therapy at both early intervention program of New Jersey and the Children’s Specialized Hospital in New Brunswick. The treatment centers are fairly close to us. There are some specialists that end up only having availability at their locations further away from our town, such as our cardiologist and eye doctor. However, our neurologists and pediatrician development specialist are all within 20 minutes of our home which really helps us in terms of our daily routine.
What was the diagnosis process like for you and your family?
At first, I was scared because there was such a small group diagnosed with this rare genetic disorder which leads to a lot of uncertainty. However, being familiar with the Neurology department as my husband had had been treated for a malformation in his brain, we were no strangers to this world. We knew the difficulties of navigating the health system in terms of getting answers and finding the right doctors. After some time informing myself I was able to get more information our care team for us to better plan out John Ryan’s path to a more successful treatment. With a better plan, my heart became comforted that I was doing my best for my son.
How has Helping Hands for GAND helped through your journey, and how long have you been involved with the organization? How have you been able to give back to Helping Hands for GAND since you joined?
I joined Helping Hands the same day I received our son’s diagnosis. It has been amazing joining a group of families that knows what you are going through. Jennifer had helped me get registered right away for the conference and we are so glad we connected with everyone. This has honestly been my light at the end of the tunnel. The biggest win for me is knowing I’m not alone. I love my son for who he is and I love that he will grow up knowing these incredible humans and having this support. It has been incredibly essential for our family to be connected with Helping Hands. We set up a fundraiser a few weeks back and were completely touched when our friends and family doubled our fundraiser goal. We are working on many plans for awareness and cannot wait to be able to execute some of these projects to make sure we help do our part to keep the research and connection growing.
Were you able to attend the 3rd GAND Gathering & Scientific Conference, and what were your takeaways from the event?
We were able to attend the 3rd GAND Conference. At first I had no idea what to expect. However, from organization to connecting with all the families, this event was flawless. It helped not only us connect with other families going through the same things but have some real discussions within our own family. My daughter started having a better understanding after attending the siblings group and being around the other children. I felt like we all left there hopeful and with much more clear knowledge of what GATAD2B really is. Also, speaking with Dr. Tyler Pierson was so helpful and made us feel more secure of research going forward. We are truly looking forward to attending all the future events.
What advice do you have for a family newly diagnosed with GATAD2B mutations or going through a rare disease diagnosis?
I would tell families not to be fearful this is just a reroute in your journey, it’s not an end destination. Your child will show you a whole new world with not only incredible people but lessons in life you only get going through this. It is definitely a journey but you are not alone.
About Helping Hands for GAND
Helping Hands for GAND is a 501(c)(3) non-profit organization working to support individuals and families affected by GATAD2B-associated neurodevelopmental disorder (GAND), to increase awareness, and to work toward research and treatment opportunities to enrich the lives of those with this rare genetic condition. HHFG aims to help GAND families better understand this disorder and connect them with other GAND families, raise awareness of GAND among the general population as well as medical and support professionals, and increase research and treatment opportunities for the GAND community through establishing a patient registry and by facilitating and funding worthwhile studies.