Our HADDS journey began in 2015, shortly after the birth of our daughter, Collette. Being parents of a neuro-typical child, Collette’s big brother, we began to notice delays in Collette’s development. She never cried, didn't smile, and was not very mobile. By her four-month follow-up with her pediatrician, she was was referred to the TCH Neurology Blue Bird Clinic for further evaluation. This is where we first met Dr. Tuan Chao. At the time Dr. Chao was the chief pediatric neurology resident at TCH. She had not yet embarked on her path of discovery into EBF3 HADDS. We agreed with Dr. Chao to pursue genetic testing (among many other tests) to better understand the underlying cause of Collette’s symptoms, and we started Collette in physical therapy and speech therapy.
We initiated the genetic testing approval process, months passed, the testing was finally completed in July 2016, then more months passed. In the meantime, Dr. Chao had left the neurology clinic in early 2016 to begin her rare disease/genetics research. Collette’s genetic testing results finally arrived in September 2016, and we discovered that Collette had an EBF3 mutation that had only been identified in the past six months, with the help of Dr. Chao! We reconnected with Dr. Chao, and she shared her knowledge at that point about EBF3 genetic mutations and the exciting EBF3 research that was continuing. Collette was then formally diagnosed with EBF3-related Hypotonia Ataxia Delayed Development Syndrome (HADDS). At the time, Collette was the youngest person to be diagnosed with HADDS. At 15 months old, she was one of seven people known with the condition. It was truly a miracle that we formed this relationship with Dr. Chao. This remarkable journey and our deep desire to promote advocacy, community, and research propelled us to partner with our amazing co-founders and start the EBF3 HADDS Foundation.
(L-R) Ashley, Julian, Collette and Mark LeMaire
(L-R) Paul, Zippy, Kelly, Elliot, Chloe Mastin
Paul and Kelly Mastin have three children, Elliot, Zippy, and Chloe. When their daughter, Chloe, was born in 2001 and wasn’t meeting the earliest of milestones, Paul and Kelly sought answers and direction from doctors. But doctors had no answers. Genetics testing was done, but no answers were found; hours were spent scouring the internet, but still no answers were found. Having a child with significant disabilities was very isolating, and being undiagnosed added to the loneliness since the Mastins never fit in any particular group of families. The Mastins were at peace, knowing that Chloe was perfect just the way she was—even without a diagnosis; yet the search for a diagnosis continued. Over the years, as new genetics tests were developed and new syndromes were discovered, Chloe endured new tests and procedures, but each time the results were the same: normal, negative, no answers. Eventually doctors referred to Chloe's condition as “Chloe Syndrome” because her issues were so unique.
Chloe participated in Whole Exome Sequencing when it became available in 2010. At the time, her test was inconclusive since the mutations found in Chloe’s DNA were not yet connected to any diagnosis or disease; however, the Mastins opted to leave Chloe’s results in a genetics database for future research. Years later, shortly before Chloe’s 16th birthday, Kelly got an unexpected call from the geneticist about a newly discovered syndrome, HADDS, which was caused by a mutation of the EBF3 gene which was seen in Chloe's genetics report from years earlier. Paul and Kelly describe the emotion of finally having a diagnosis as a coming home of sorts. After feeling mostly alone for 16 years, connecting with families who could relate with many details of their life with Chloe was refreshing and exciting. And Chloe, too, found great joy in “belonging” with others who share her diagnosis. The Mastins are committed to helping support families with a HADDS diagnosis, knowing what a gift it would have been to have someone over the years who could relate and offer guidance early on. The Mastins live in Fort Worth, Texas, and continue to champion disability-related causes.
The Schindlers are a military family, currently serving in San Antonio, TX. David and Mallory have two young children, Grant & Grace. Grant was born premature at 31 weeks in 2015, and spent the first few months of life in the NICU at Walter Reed National Military Medical Center in Bethesda, MD. While they noticed delays and abnormalities, the medical staff assumed they were due to his early arrival. As time passed, delays increased and more abnormal neurological symptoms presented themselves. For the first 24 months of life, Grant endured weeks of hospitalizations for urinary tract and kidney infections due to neurogenic bladder dysfunction, brain surgery to relieve hydrocephalus, and countless visits to specialists and in-home therapists in the Washington, D.C. area to treat verbal delays, autistic-like tendencies, ataxia, and hypotonia-related constipation. When he turned 2, Grant finally received a HADDS diagnosis thanks to a Whole Exome Sequencing genetic test. The timing of Grant’s testing was incredible, as the syndrome had just been discovered a few months prior.
A syndrome diagnosis is a funny thing – you are relieved by at last having the answer to explain your child’s struggles, while simultaneously distraught with the confirmation that this could be a lifelong, uphill battle for your child. While the Schindlers accepted the news, they had to adjust their expectations, goals, socialization, therapies, advocacy and everything else that comes along with a HADD Syndrome diagnosis.
The Schindlers felt led to help launch this foundation because every individual with HADDS has incredible value – they should be able to receive an early diagnosis (through increased global awareness), and they and their family members should not have to process and navigate life with this syndrome alone moving forward. Having a central source of information, tools for advocacy, fundraising to support continued research and HADDS families, and building a more connected HADDS community will help our loved ones living with HADDS thrive!