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. Jean Hammond, mother of 17-year old Ellie, 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 daughter Ellie, who is 17 years old, received her GAND diagnosis at the age of 12. We had been operating under the general category of “Global Developmental Delay” until GAND was diagnosed through SickKids Hospital pilot Whole Exome Sequencing program.
We began accessing services and therapies for Ellie at age two and our primary treatment centre is Holland Bloorview Kids Rehabilitation Hospital, a 20 minute drive from our home in Toronto, Canada. We are so fortunate to be connected with Holland Bloorview and are grateful to have received Speech Therapy, Physio Therapy, Occupational Therapy, Orthotics, Dentistry, Life Skills programming and Neurology services over the past 15 years. Holland Bloorview is a leader in providing Client and Family Centred Care and offers many supports to family caregivers like transition planning, parent support network, peer mentorship, etc.
Ellie has an older brother Cameron who is an amazing sibling caregiver and friend. My husband and I are fortunate to have the help and support of extended family who enjoy spending time with Ellie and provide us with opportunities for respite and “couple time”.
What was the diagnosis process like for you and your family?
We were referred to the SickKids genetics clinic at the age of 2 and went periodically over the next 10 years, participating in a few different diagnostic tests with no result.
We were surprised to receive a diagnosis as we had come to terms with the likelihood of never pinpointing the cause of Ellie’s developmental delays. Initially I thought having a rare disease diagnosis would not impact us greatly as we were already doing everything we could in terms of finding therapies and supports to help her gain life skills and independence. I quickly learned the value of connecting with other families who share this rare diagnosis, and the importance of having a community to turn to with questions, challenges and to share successes with.
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?
Over the past five years we’ve engaged regularly on the Helping Hands for GAND Facebook group, welcoming new members, answering questions and sharing experiences. We have connected with other GAND families in Ontario, arranging an outing to the zoo, or a visit in our home with newly-diagnosed families.
We fundraise for and contribute financially to Helping Hands for GAND every year.
We have attended the last two GAND family conferences and enjoyed the opportunity to hear from the two scientists currently conducting research on GAND, as well as connecting with other families.
I have sat on parent panels at the past two conferences, speaking about the importance of self-care for parents and caregivers, and sharing our experience with navigating the school system.
My husband Jeff designed the logo for the most recent conference as well.
Were you able to attend the 3rd GAND Gathering & Scientific Conference, and what were your takeaways from the event?
Ellie, Jeff and I attended the conference this summer in Mason, Ohio. Key takeaways were that the research studies were essentially paused due to COVID-19 but will continue on in the future. We didn’t learn anything new in terms of services and therapies but were able to add our lived experience to the discussion and it was reinforcing to hear that we were already accessing the services that others find to be most helpful (e.g. specific types of speech therapy). It was also nice to play a mentorship role to families with younger kids – sharing what we have learned and experienced as parents with an older child with GAND.
What advice do you have for a family newly diagnosed with GATAD2B mutations or going through a rare disease diagnosis?
Embrace the parent community – ask them all of your questions and share all of your concerns and successes. We are truly like a family and there to support each other through good times and bad.
Listen to your own instincts. We were told in grade one to focus only on Augmentative communication as Ellie would never learn to speak in a functional way. I believed that one day she would learn to speak and ignored the advice to abandon speech therapy. Ellie “achieved functional speech” in grade 3 and retired her AAC device that year.
And for the parents: recognize your additional role, beyond parenthood, as a caregiver. You will be in this role for the duration of your child’s life and you need to ensure that you take care of your own needs, and get the help you need in order to sustain this role long-term. Find activities that are restorative for you and make the time to include them in your daily routine.
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.