Patient Profile: Edimer Pharmaceuticals delivers hope for future generations living with XLHED
Beth Pond understands all too well the challenges of living with X-linked Hypohidrodic Ectodermal Dysplasia (XLHED).
Her brother, Steve, and two of her sons, Nolan (age 16) and Philip (age 15), are affected by the rare orphan disease that causes a range of symptoms, including lack of sweat glands, poor temperature control, respiratory problems, sparse hair and missing and malformed teeth. There are a number of secondary features of XLHED that may include severe dry eye, eczema, asthma and dry mucous membranes in the mouth and nose.
In the early years of life, XLHED-affected individuals are at risk for severe life-threatening medical complications, most often related to their inability to sweat, leading to hyperthermia. Pond had a second brother who likely succumbed to those complications when he was only six weeks old.
“He died on a hot, summer day while taking a nap,” said Pond. “Doctors said it was SIDS, but we think that he had XLHED and overheated. It’s important to understand that XLHED can be life-threatening and deadly, not just a host of medical and dental needs.”
Fortunately, through awareness, her sons have been able to manage the ramifications of a lack of sweat glands.
“Growing up, the boys always sought out cool places and things like hardwood floors and the refrigerator,” said Pond, a Hubbardston resident. “They’d be in shorts until December, and they had to be in air-conditioned places as much as possible. They could only go to the park on cold or rainy, cloudy days.”
Later, it became more difficult to control the accommodations in the boys’ school or on the bus. Pond advocated for their elementary school to install air conditioners in their classrooms. She and her husband, Michael, also helped them through the hurdle of outdoor sports. Both boys played baseball and soccer, while seeking out cool relief.
“Michael would volunteer to coach and we would be on the sidelines spraying them with water,” said Pond. “We always had coolers full of ice, spray bottles, drinks and wet shirts for them to put on.”
Nolan also played ice hockey and both boys have always swum in the summers. Today, they’re avid snowboarders.
Yet, even overcoming the challenges of poor temperature control, their path in life has not been an easy one. As XLHED patients grow older, the shift often focuses to loss of hair and chronic skin and dental issues, with the associated medical, emotional and self-esteem ramifications.
“It can be devastating for these children, especially at this age, in their teens,” said Pond. “I’m glad they’re able to turn to their uncle. He’s able to talk to them about specific things like dentures and personal issues relating to the teenage years and relationships, because he’s already gone through it. It’s really important that he give them hope.”
Because the average adult tooth count in XLHED patients is only six, dentures may be prescribed as early as age 2. With only four teeth at age 3, Nolan was fitted for his first pair. The family’s insurance company initially denied coverage stating that it was cosmetic, but Pond fought it and won. She later initiated a bill for Massachusetts health insurance companies to cover dentures and other medically necessary procedures for XLHED-affected individuals, to ensure other families would not have to go through the same thing.
“I brought my children into this world, and I promised myself that I’d be active advocating for them and other children like them,” said Pond. “It’s very therapeutic for me to be doing whatever I can.”
Pond herself is an affected carrier of XLHED. Though males are affected by X-linked recessive disorders much more frequently than females, females with one altered copy of the gene may experience some features of the condition. Pond had pegged teeth that had to be filed down, as well as fewer sweat glands. As a carrier, she knew there was a 50/50 chance a son of hers would be affected by XLHED. Her oldest son, Dylan (age 17), beat those odds, but she recognized the signs right away when Nolan was born.
“He had extremely dry skin and no dental ridge at all,” she said. “I knew right away. But unless you know what you’re looking for, it’s difficult to make a clinical decision and start managing the symptoms early on. That’s why it’s so important to educate people and raise awareness about this condition.”
Pond serves as a regional family liaison for the National Foundation for Ectodermal Dysplasias (NFED) and believes strongly in creating a network of communications with other families.
“I know a lot of families who, after their first child is born with HED, don’t have any more children and that child is all alone,” said Pond. “Families find support and friendship from other families who are going through the same thing.”
In addition to serving as a liaison for the past five years, Pond also served on the board of the NFED for six years. Through her involvement with the foundation, she was introduced to Cambridge-based Edimer Pharmaceuticals – a company dedicated to delivering a significant and durable improvement in the health and quality of life to future generations affected by XLHED. In February, Edimer announced that it will provide a grant to the NFED to help defray costs associated with the foundation’s annual Family Conference.
“Edimer applauds the efforts of the NFED and supports programs that encourage ongoing communication among the ectodermal dysplasia community as we work to develop a treatment for XLHED,” said Neil Kirby, President and CEO of Edimer. “There is increasing recognition that just because a disease is rare it does not mean that it isn’t important. I am proud to be part of a company and an industry committed to making a difference in the lives of people affected by rare disease.”
Edimer was established in 2009 with investment from Third Rock Ventures and VI Partners. Last year, Third Rock Ventures invited Pond to speak at its Rare Disease Day event, where she met member of the Edimer team.
“They wanted to hear about the family perspective that brings it all to life,” said Pond. “It was an awesome group. They wanted to be more informed, and it’s wonderful that they wanted to learn from my life experiences. Being connected, I can be that go-between, bringing other families to Edimer.”
Pond encourages families to join the Edimer Patient Network so they can get information and updates on their work.
“Beth has been such a tremendous resource,” said Tessa Lorenze, who is responsible for patient outreach at Edimer. “She and her brother are willing to come in and test out equipment and share their stories. It’s less clinical and more anecdotal. It helps us stay in tune with what’s going on and what’s important to the patient community.”
While there are currently no specific therapies for the treatment of XLHED, Edimer is developing an innovative therapy, EDI200, which has been shown in animal studies to substitute for Ectodysplasin-A1 – a protein that is involved in the formation and development of skin and teeth. EDI200 is in natural history studies right now and is expected to go into clinical trial in late 2011/early 2012.
“It’s so exciting and life-changing,” said Pond. “My first thought was, ‘I can’t believe this is happening in my lifetime.’”
Though to be effective, EDI200 will likely have to be given within the first few weeks of life, before the ectodermal appendages are already established.
“It’s heartbreaking to me that it won’t help my brother or sons, but it does give hope to future generations,” said Pond. “All of Philip and Nolan’s daughters will be carriers, so hope is all we’ve got.”
To learn more about Edimer Pharmaceuticals and ED1200, please visit http://www.edimerpharma.com/.