KDM5C Together: Laying Foundation for Rare Disease Research
They assembled in a conference room in the Price Center/Block Research Pavilion on a Thursday morning, excited and hopeful. Twelve families had come from far and wide, including a trans-Atlantic trip from England for one family. And though they had “met” on numerous occasions via Facebook, they had never truly set eyes on one another.
“They” are a group of families, each with a child who has a mutation of the KDM5C gene, which typically cause an intellectual disability in boys but has been found to occur in girls, too. Their purpose for coming together? They came to Einstein on February 27, 2020, to attend the annual Rare Disease Day hosted by our Rose F. Kennedy Intellectual and Developmental Disability Research Center (IDDRC), where they shared their personal stories while also learning how to forge a foundation through which they can support research into this rare disease that afflicts their children.
The idea to bring the families together was conceived by Hayden Hatch, a student in Einstein’s Medical Scientist Training Program (MSTP). Currently completing the Ph.D. portion of his M.D./Ph.D. in the laboratory of Dr. Julie Secombe, Hayden coordinated a special program for the KDM5C families, which took place before a symposium where three families, Montefiore clinicians, and Einstein researchers discussed the benefits of successful partnerships aimed at addressing rare diseases.
Sharing Experience to Benefit Others
During the program, the families learned about the efforts of the Foglio family to establish S.T.A.R. Foundation for Salla Disease, whose mission is to raise awareness of Salla disease and funds to aid research into the rare disease that is characterized by early physical impairment and intellectual disability. “The Foglios wanted to share the benefits of their experience so that families whose children have another rare disease could do similar for their children,” explained Hayden.
The families also received results from a questionnaire compiled by Dr. Lisa Shulman and colleagues in Montefiore’s Rose F. Kennedy Children’s Evaluation and Rehabilitation Center (CERC), which the KDM5C group members had completed in advance of Rare Disease Day. The CERC team evaluated the families’ responses and offered data from the small sample group (though sizeable in terms of a rare disease at approximately 16 participants).
The CERC team noted that, in addition to a significant number of affected girls in an X-linked condition, there were clinical commonalities among the group including multiple children with autism, motor spasticity, and visual issues. “These issues have not been highlighted in previous reports of the condition,” said Dr. Shulman. Specialists from CERC, Montefiore, and the Jackson Laboratory in Bar Harbor, ME, also were available to answer questions that children and their family members had.
Hayden explained, “Even though 16 is a small sample size, it is a huge number when compared to the fraction of those diagnosed thus far with the condition. One family from Europe has said that the information in the survey will be a huge help with getting additional services through their medical providers, particularly now that there is some sort of data for girls affected by KDM5C. Previously there was only one paper characterizing girls with the disorder.”
He added, “There really aren’t enough words to describe what this meant to them.”
Dr. Shulman added, “When children are recognized as having developmental delays, the first question on most families’ minds is: Why--what has caused this? With recent gains in genetic testing, which allow for the identification of mutations not previously able to be identified, families with children with developmental disabilities are finally able to obtain answers to the “why” question.
“They express a sense of going from feeling all alone as a family with a child with disability, to being part of a “family” all impacted by a common gene mutation. Identification of the gene mutation is the first step in the long process of thinking about specific medical interventions in addition to the educational and therapeutic interventions families have been offered to treat their children's developmental delays. It’s truly outlook changing for many families.”
Making Special Connections
The event also included a workshop, the ME Program, run by CERC occupational and physical therapists, under the leadership of occupational therapist Elizabeth Ridgway and physical therapist Carol Terilli, for the children of the 12 KDM5C families, where Gabby Robl met her new best friend—another young girl who also has a KDM5C mutation.
Gabby’s mother Amy noted, “[There was an] instantaneous bond with these two. Gabby struggles to make friends, and to find one of the only people in the world who is so much like her is a true blessing.” (Gabby’s parents were on the afternoon panel during the Rare Disease Day symposium, where they discussed their difficulties in getting a proper diagnosis since, until recently, there had been few girls documented with having the condition.)
Hayden observed, “The event generated tremendous positive energy. The 12 families plan to meet up again next year and every year after that.”
Following the event, the group purchased the domain name kdm5c.org, where they have begun building a website (http://www.kdm5c.org/ ), and populating it with informational resources for other families who may receive a similar diagnosis. “They’ve also taken preliminary steps to start up a foundation in the United States, and another group of families in Europe plan to make an oversees chapter,” reported Hayden. “Their Facebook page is more active than ever. And, Julie [Secombe] and I have also volunteered to help secure NIH funding for future KDM5C meetings.”
Posted on: Friday, May 15, 2020