Windows of Hope helping those with genetic disorders see things more clearly
Inherited genetic disorders can be frustrating for families. They often don’t know what disease they are dealing with, have nowhere to turn for answers and when they are able to find a resource which can help them identify and deal with genetic defects, it is often quite expensive.However, a new area center designed to deal specifically with genetic disorders in the Anabaptist community will hopefully help alleviate some of the fears of the unknown, as well as much of the expense of tracking down exactly what kind of disorders families are dealing.
Windows of Hope Genetics Information Center (WOH) will serve Holmes County and its surrounding areas with a focus on coordinating health care, offering possible treatment advice and more importantly, helping families discover the kinds of genetic diseases which may be afflicting their families — many of which are unknown to the families who struggle with the symptoms of these genetic diseases without understanding the cause.
While many of these genetic diseases may not be curable, WOH may be able to direct families toward health clinics, physicians and individuals who may help them better understand how to deal with the disease afflicting their family member.
“We wanted to develop a clinic where people can get answers,” said board member Shannon Stutzman, whose husband, Hal, was diagnosed with Mast Syndrome, one of the numerous genetic diseases characteristic of the Anabaptist community in Holmes County. “So many times, people deal with these diseases, which take a hold of someone and slowly disable them in ways we can’t understand. It’s frustrating for families when they don’t have anywhere to turn, and don’t even have the slightest idea where to begin. We’re hoping that Windows of Hope is the answer to their prayers, at least in the sense that they can get a better grip on what kind of genetic disorder they are up against.”
WOH is a medical project dedicated to the detection, characterization, and treatment of inherited health problems. It is focused on the application of new knowledge and advances in the fields of genomics (the study of genes) and medicine that are making it possible to prevent and treat certain genetic disorders through a better understanding of human physiology and how genes work.
The project was founded in 2000 with the specific aim of finding certain specific mutant genes known to cause several forms of spastic paraplegia discovered in Holmes County in the 1960s. The Holmes County area hosts the largest Amish community in the world and consequently, the largest number of inherited medical disorders among Anabaptist populations. Dr. Harold Cross (who has an Anabaptist background himself) began genetic studies in Holmes County in the 1960s. After a time of dormancy, studies began again much more intensively, as Dr. Cross was joined by Dr. Andrew Crosby of Arizona in using modern genomic testing in the search for disease mechanisms and therapies.
Much of the data gathered through WOH in Walnut Creek will be used in research by the two men, who hope to develop a better understanding of these medical genetic disorders.
While providing research may be one beneficial part of the new center, helping alleviate some of the unknowns in people’s lives is what may be the most immediate benefit.
“Hopefully, we will be able to provide some solid answers for people who are wondering why something is happening that they have no control over,” said Roselyn Coblentz. She will staff the center, providing assistance to visitors. “Information helps get rid of the not knowing, and that leads to better understanding. Many of the families we have talked to have even expressed the sense that even if they are unable to get help themselves, they are satisfied in the knowledge that they may be helping others down the road.”
The hope is that as details and causes of these genetic disorders come to light, the medical field may be able to make huge strides in alleviating some of them in the future.
The new clinic is now open in the southwest corner of the Walnut Creek Community Center on Olde Pump St. It will be open to the public on Tuesdays, where Coblentz may be reached at 330-275-0070.
While visiting, families may peruse the Internet on a computer system designed specifically to record a person’s symptoms and shape them into possible medical diseases. There will also be a geneticist from Akron General Hospital who will make visitations, draw blood and provide medical examinations. The blood which is drawn will be frozen and transported to Drs. Cross and Crosby, who will use it in their research. Coblentz said they will also be busy doing public relations, including educational meetings, or attending functions such as Amish Health and Safety Days.
Many of these medical options are free to the public.
Gaining an understanding of a disease can help release many of the pent up frustrations which accompany the unknown in the medical world.
“When we first started to search for what was causing Hal’s symptoms, we didn’t know where to even begin,” said Stutzman. “There was nothing in the area dealing with genetic disorders. Not knowing was horrible. Once we were finally able to at least gain a better understanding of what we were dealing with, the unknown was gone. Having somewhere which people can go to gain awareness and to have someone steer them in the right direction for answers is so important. Having a place where people don’t have to spend thousands of dollars searching for answers is amazing.”
Many of the Anabaptist-related genetic disorders are very rare and unique in their symptoms. Doctors are often unable to diagnose these rare diseases, of which there are more than 120 specifically related to Anabaptists.
Coblentz, who was a registered LPN at Pomerene Hospital before taking over at her new position with WOH, will also be in the field, contacting the more than 100 families who have already been identified with family members who have a genetic disorder. She will also travel to the homes of other families who have inquiries concerning genetic disorder issues. She will be working closely with Dr. Elton Lehman from Mt. Hope in her visitations.