Maintaining a stable weight is a game-changer for client with rare genetic disease


Claire spent her 22nd birthday in the cardiac intensive care unit at Porter Hospital in Denver. At the time, she weighed only 100 pounds, and her blood sugar was dangerously low. Everything she ate seemed to make her sick, so she’d all but stopped eating. When she was finally discharged, she left in a wheelchair, unable to stand due to wildly fluctuating blood pressure and pain.

“Eating is still a challenge at times,” said Claire. “But the challenge is no longer finding food.”

It was a low point in a lifelong journey filled with mysterious symptoms and misdiagnoses. As it turned out, her frequent joint dislocations, skin bruising and tearing, and severe pain were all related to a rare genetic condition called Ehlers-Danlos syndrome.

Ehlers-Danlos syndrome affects a person’s connective tissues, especially skin, joints, and blood vessel walls. Connective tissue gives strength and elasticity to everything in your body. Abnormalities in these tissues can cause all kinds of seemingly unrelated issues, from dental problems to skin scarring and severe gastrointestinal symptoms.

“I always knew that not eating was causing problems with my health,” said Claire. “But I can’t have dairy. I need to carefully limit gluten. The doctors said, ‘You need to eat. You need to do better.’ But nothing was offered to me as to how to do that.”

Since Claire could no longer stand long enough to cook, she needed pre-made meals but finding ones that wouldn’t make her sick proved to be a challenge. “I was spending 3-4 hours a day just figuring out how I was going to eat,” said Claire. “Finding stuff that was gluten and dairy-free was difficult. Not cheap. And the serving sizes were very small.”

Claire’s palliative care team realized that one simple way to keep Claire out of the hospital was to make sure she had food she could eat. They connected her with Project Angel Heart.

Within a few weeks, Claire began receiving weekly deliveries of dairy-free, gluten-free meals.

“Eating is still a challenge at times,” said Claire. “But the challenge is no longer finding food.”

Soon after her meal deliveries began, Claire and her partner noticed that her health was improving. Her weight stabilized. She had more energy throughout the day. Her sleep improved. Her chronic nausea went away.

She’s grateful for the improvements in her health. She’s also grateful that the meals are reducing her potential for exposure to the coronavirus. “I have low immune function, so I don’t really go out much right now,” said Claire. “It’s not worth the risk. Even if I was cooking for myself, I think it would be really difficult for me to safely get the things I need for food. I’d be interacting with a lot more people than I am now.”

Before her symptoms worsened, Claire worked in a neuroscience research lab. She’s interested in pursuing a career in that field and hopes that upcoming surgeries will allow her to continue her education.

In the meantime, she stays busy by doing volunteer advocacy work on behalf of rare disease patients and people living with chronic pain. One thing she’s proudly advocating for? Better access to quality-of-life care and programs that address basic needs, like nutrition. “I don’t know how people are expected to make lifestyle changes they need with no support,” said Claire. “I think the amount of stress that causes is underestimated.”