Help the Vaughn Family Get Answers!

What is in Boston?     Answers. Support. Hope.   

Members of the Vaughn family - five adult siblings, their parents, and four children, including a severely disabled infant who passed away at an early age -  have struggled for many years to find answers and proper treatment for debilitating illness. Most have fragile, stretchy skin; weak joints that dislocate; and tissues that bruise and tear easily. It is not uncommon to dislocate a hip while simply walking across a room, or dislocate a rib by sneezing. While the dislocations often resolve themselves as spontaneously as they appear, the resulting injuries are often repetitious and can take many years to heal, if ever.  Cumulative injury leads to progressive disability, especially in the jaw, spine, shoulders, hips, and knees.

Their other debilitating symptoms include: chronic nerve pain; joint pain and stiffness; poor core strength and misfiring muscles; sudden numbness and weakness with certain movements; dizziness, lightheadedness, and severe migraines; hormonal imbalances; dental complications; intestinal issues and difficulty swallowing; severe sleep disturbances; and chronic fatigue.

In 2009, the Mayo Clinic diagnosed one sibling with Ehlers-Danlos Syndrome (EDS). Although this shed light on the family’s struggles, the high cost of genetic testing and the remote nature of their home in Alaska combined to prevent most of the family from accessing specialists for proper evaluation.

After more than 10 years of struggle, this new opportunity will make it possible for multiple family members to be evaluated and treated.

The symptoms and inheritance patterns of EDS are inherently complex, and knowledge is still evolving. As currently defined, there are 14 possible subtypes of EDS, plus co-existing rheumatic diseases, that travel in the family lines of those affected. EDS results from various genetic mutations - some known and some as-yet-unidentified - that affect collagen, the main protein providing strength to tissues in the body. Because of the diverse and overlapping symptoms of EDS subtypes and related connective-tissue diseases, proper diagnosis is complex and challenging.

The sibling with an existing EDS diagnosis has already seen a radical difference in the strategies of her doctors, and the quality of her overall healthcare. Now, the Ehlers-Danlos Clinical Research Program at the Boston University School of Medicine is interested in evaluating all affected family members. Individuals who receive a diagnosis, and their providers, would be armed with information for treatment. Also, since EDS is difficult to recognize and diagnose in young children in all but the most severe cases, parents would be informed of what signs to watch for and how to care for the needs of their children in ways that prevent or delay disability.

Now, we have to get them there!

The goal set for this campaign takes in the wide range of expenses the family will have to cover in order to get all 8 family members who would be participating from their home in Alaska to the University in Boston, MA. These expenses include:

• Round-trip airfare for 6 family members
• Round-trip ground transportation for 2 family members: One family member cannot travel by commercial airline due to a permanent inner-ear disability, and should travel accompanied if at all possible in case complications arise mid-trip from elevation changes along the way. Travel will probably include a ferry and train combination, but the family is open to other potential ideas!
• Hotel stays - which will be extended for those travelling by ground to accommodate the limited sailings that cross the Gulf of Alaska
• Meals
• Rental car expenses
• Medical record requests