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A zebra in the room

Colerain girl battles rare connective tissue disorder

June 23, 2013
By SHAUNNA DUNDER HERSHBERGER - Lifestyles Editor (sdunder@timesleaderonline.com) , Times Leader

Hunter Gust broke her elbow when she was 10 years old. Aside from some "growing pains" in her shoulders and elbows, she was an active, happy - and presumably healthy - child. While Hunter's bone healed, she continued to complain about pain in her shoulders and elbows and described it as "clicking and popping."

Hunter's mother, Mary Ellen Gust, mentioned Hunter's issues to the orthopedist who had set her bone, wondering aloud if maybe her elbow wasn't healing properly. The doctor asked to see Hunter, and the next day, Mary Ellen and her daughter were in his office. More X-rays followed, and while the doctor could not say for sure if Hunter's elbow was healing properly, he did say that the clicking and popping was not normal.

Mary Ellen took Hunter to see two specialists - one for her elbow and one for the pain - and it was the second doctor who suggested that Hunter may have Elhers-Danlos Syndrome (EDS). "I thought, 'It can't be anything major, because I would have heard of it by now'," Mary Ellen said.

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Hunter Gust, 13, of Colerain, suffers from Ehlers-Danlos Syndrome, a progressive, rare disease resulting from a collagen defect. Hunter’s type affects her joints and can cause repeated dislocations, especially to large joints like knees and shoulders. Knee braces help keep her knees stabilized and reduce pain.

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Ehlers-Danlos Syndrome is a connective tissue disorder caused by a defect in the way the body makes collagen. Collagen is an important component that makes skin, muscles, tendons and ligaments strong, and a collagen defect renders these joints more elastic. The disease is progressive, and there is no cure.

Mary Ellen described the condition with an analogy. "Take a rubber band, then stretch it and play with it a lot. Over time, it gets fragile. People with EDS have weak and fragile joints that get more and more stretched out over time, and there's nothing you can do about it. You can't make a rubber band tight again." Treatment options include strengthening the muscles around the joints, or in some cases surgery, but in general, medical treatment is limited to addressing bothersome symptoms.

There are six types of EDS. Classification is based on signs and symptoms and what body parts are affected, such as the skin, joints, spine or vascular system. Hunter has two of the six types - Hypermobility and Classical. Someone with Hypermobility EDS has extremely flexible joints that result in recurring dislocations and partial dislocations (subluxations) of joints like knees, shoulders, jaw, elbows, fingers and toes. Classical EDS causes the skin to be stretchy and velvety soft and results in easy bruising, difficulty healing and scarring.

EDS is inherited. While Mary Ellen and her mother, Kathleen Meeker, have never been tested for EDS, both went with Hunter when she underwent initial testing. Mary Ellen said the real eye opener came during questions about family history. Conditions they thought were completely normal in their family, like baby soft, stretchy skin and the ability to bend their fingers back more than typical, were just in their family. "It was something we all had, but it wasn't something everyone had."

"My mom was double jointed," Kathleen said. "I was born with a drop wrist."

While none of the females in the family were tested for EDS besides Hunter, Mary Ellen said they were all dumbfounded by the discovery that their normal wasn't everyone else's normal.

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It's easy to overlook many of the mundane activities of a typical school day. Things like taking notes during class or carrying a backpack - students do those without a second thought.

On the other hand, Hunter, a student at Martins Ferry Middle School, had to find other alternatives.

"We were shocked when Hunter told us at the beginning of the school year that her shoulders popped out 20 times a day," Kathleen marveled.

"We had no idea," Mary Ellen added. "She wasn't taking gym, but we just didn't think about all these things like reaching up into a locker, carrying books, raising your hand - things where you use your shoulders. I never thought of it."

Mary Ellen said the school has been "absolutely amazing" in their efforts to accommodate her daughter. They've supplied her with a second set of books that she keeps at home so she doesn't have to carry a heavy backpack, she sits at a different desk with a computer chair so it won't hurt her back, and they also allow her extra time between classes. The school also gave Hunter an iPad so she can utilize voice software to complete her assignments. For the standardized test, Hunter was put in a separate area and a student teacher acted as her scribe and filled in the answers for her.

In addition, with the help of the school psychologist, an IEP specifically for people who have medical issues was designed for Hunter. An extremely bright student who received straight A's last semester, Hunter is in "A level" classes, and the school psychologist said they wanted to do all they could to keep her on a level playing field. Hunter's intellectual self is not lacking, and the goal of the IEP is to allow her to utilize the brain power she does have as well as everyone else does.

Hunter was recently fitted with knee braces and finger braces to help prevent dislocations, although not everything is preventable. On a recent car ride with her grandmother Kathleen, Hunter laughed hard and her rib dislocated. And even with all the precautions she takes with her shoulders, Hunter said they now pop out "a lot more" than the 20 times a day she initially reported to her family.

"There's always something that hurts," Hunter revealed.

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Last fall, Hunter's condition grew more complex when she was diagnosed with postural orthostatic tachycardia syndrome (POTS), a condition in which a change in position, like going from sitting to standing, causes the heart rate to increase. The result is lightheadedness, fatigue or fainting. POTS can be extremely debilitating depending on the severity. The condition is common in patients with EDS, although not everyone with EDS has POTS.

"POTS makes me pass out," Hunter explained, adding that she gets lightheaded, dizzy and tired when she stands up too fast. The extra time in between classes allows her time to get to her feet slowly so she doesn't pass out. "When I wake up in the morning, I have to dangle my feet over the side of the bed so I can get used to it and slowly stand up."

Hunter's cardiologist suggested that she drink 16 oz of water when she gets up in the morning and drink at least 64 oz of water each day as well as eat salty snacks. She carries packets of soy sauce with her in case she needs a quick dose of salt and always has water. Her school works with her, allowing her to eat and drink during class. Her daily regime also includes taking five different medications.

"Hunter doesn't like to draw attention to herself and tell people when she doesn't feel well," Mary Ellen said. But the teachers seemed to reach a point where they could just look at her and know she didn't feel good. One time during an assembly, Hunter said her math teacher, Brian Best, came to check on her. Her back was sore from sitting on the bleachers, so he got her up and walked around the school with her to help stretch her back out. Even her classmates look after her. One boy in her class brings her extra packets of soy sauce every time his family orders Chinese food.

"We've had a really wonderful experience with her school," Mary Ellen stated confidently.

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For all the havoc the condition creates for Hunter and her family, EDS also carries the stigma of being a disease you can't see just by looking at someone. From the outside, Hunter appears to be a normal, 13-year-old girl.

"I hope people realize that there are some invisible illnesses," Hunter said as she tapped at the braces on her fingers. "I have some boys in my class that always ask what's wrong with me, and when I explain, they just think I'm lying. They wanted to know why I got special treatment."

"There are a lot of diseases out there that get a lot of air time and publicity, and that's fantastic, but that doesn't mean that curing this one is any less important because people don't know about it," Mary Ellen said emphatically.

"We get some sideways glances and some not-so-nice looks from people sometimes - like if she's having a really bad day and is using a scooter at Kroger, for example, we may get some sideways glances that people think she's just some kid playing around. Or if we take a handicapped parking spot - you shouldn't judge people if you don't really know what's going on."

Hunter is extremely well-versed with her condition, and her mom said that they are really open to people to asking questions. Anytime she hears new words or has new symptoms, she's on the computer doing research. "Hunter is the Google queen," Kathleen laughed.

Mary Ellen agreed. "I listened to her talk on the phone the other night to her other grandma, and just listening to her speak about symptoms and treatment and tests I'm just constantly amazed at how much information she's gained because she reads a lot. She's very mature and responsible, and she really takes ownership of her health."

But for all her knowledge, Hunter has difficulty comfortably participating in activities other kids her age can. "Gym class is a good example where most of the kids are active and she's not," Mary Ellen explained. Hunter used to participate in softball and gymnastics, but she can't participate in those activities now.

"One thing she really loves is art, which is something you'd think she could do, but with her fingers being so sore, after just a little bit of time, she's uncomfortable," Mary Ellen continued. "An interest in musical instruments brought about the same thing. We struggle to find things for her to do."

Still, Hunter likes a lot of things kids her age enjoy, including camping, fishing, shopping, watching videos on YouTube, playing with her cousins and, of course, reading.

"She looks perfect, and sometimes you just forget," Mary Ellen said quietly.

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The Ehlers-Danlos National Foundation (EDNF) is a clearinghouse of information, networking and support groups targeted to those suffering from EDS. Hunter, Mary Ellen and Kathleen attended the non-profit organization's 2012 national conference in Cincinnati.

During the conference, a speaker explained the significance of the EDNF's zebra mascot. "Doctors in med school are taught if you hear hoof beats, look for horses," Mary Ellen explained, "Which means everything you come across is not going to be some outrageous disease. If someone has a cough, it's probably a cold, not pneumonia. But zebras make hoof beats too, and EDS is one of those rare diseases out there - it's a zebra."

The conference was a wealth of information, which included break-out sessions for both adults and children. Mary Ellen and Kathleen felt overwhelmed with information, but Hunter had a slightly different reaction.

"I think it was a little scary, because I was 12 when I went, and I saw girls there that were 14, and they were in wheelchairs and on all these medicines," Hunter stated. "And it's a little scary because you know it's gonna progress, so you don't know what it's going to be like next year. That could me when I'm 14, in a wheelchair. I like to be able to do stuff other people can do. It's just scary because that can be me one day."

At the conference last year, the EDNF announced that they wanted to create an EDS treatment center. Since then, they signed an agreement with a hospital in Baltimore, named an executive director and conducted massive fundraising. Mary Ellen sounded hopeful when she said that it was comforting to know that within the next few years, there will be a national center not too far away. "I hope it creates more awareness, and those with EDS know they're going to see an expert and someone who knows what they are talking about," she concluded.

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"Sometimes it's hard to get comfortable," Hunter explained. "I'll lay one way and it will be comfortable on my back, but then it will hurt my legs, so it's really hard to get to sleep at night. But I try to lay on my sides because that's usually the most comfortable, but then my shoulder will pop out, so I'm constantly moving at night. So that's a problem I have a lot - some joints feel good and some don't. A hot tub feels really good on my joints, but I'll get lightheaded because of the heat because it makes the POTS worse, and I might pass out. So sometimes it's hard to find a balance."

"The disease is constantly changing and evolving," Mary Ellen stated. "It's not like if you're sick, you can just go get antibiotics and you're better. We have seen so many doctors. She has a shoulder surgeon, a rheumatologist, a cardiologist, a physical medicine and rehab doctor. ... It's hard to get her 100 percent healthy at once, because just when something is addressed, something else pops up." She added that they are currently looking for a sports medicine physical therapist to start her on a different kind of physical therapy.

Mary Ellen sounded both hopeful and frustrated as she admitted to never feeling like they had "all their ducks in a row."

"One of my hopes is to have everything set and solid, but with it being progressive, I'm not sure we'll ever get to that point. But that's my dream."

Aside from raising awareness about EDS and the fact that not all diseases are visible, Mary Ellen also wanted to extend an important message to parents. "I want parents to know that it's ok for the doctor to think you're crazy. And it's ok to not believe what the doctor tells you, and it's ok to seek out another opinion." She again stated that because Hunter looks "perfectly healthy" they've struggled with medical professionals either not believing her aches and pains or lacking general knowledge about EDS.

"Your child knows her body better than anyone else, and you know your child better than anyone else," Mary Ellen continued. "You are always, always, always your child's best advocate. Don't be afraid to ask questions and seek out other information."

Hunter continues to press on, discovering courage in herself and gaining more knowledge and insight into a disease that few understand. Speaking with heartfelt sincerity, Hunter finished, "I hope that one day, other people with EDS can be diagnosed and that they find a cure so other people don't have to go through the pain."

 
 

 

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