The team takes on three new cases and checks in with Quendella, Debra and Delaney
Medicine doesn’t always have the answers when we need them. That’s why the Chasing the Cure team is dedicated to helping those with unsolved illnesses find a path towards both diagnosis and wellness. We all need a helping hand every now and then.
During episode five, which aired September 5, 2019, we met three new cases and received a remarkable update on two other complex cases. Let’s dive in and see how people all over the world are coming together to chase a cure.
Case file: Heather
Food has always been the highlight of Heather’s life. Now, food has become this Salt Lake City mother of three’s worst nightmare.
Back in 2007, she was eating a pretzel and a piece got stuck in her throat. From there, food continued to complicate her life. She was diagnosed with Achalasia, a condition where the body can’t move food from the esophagus to the stomach. The muscles in the throat that should open after we’ve swallowed food stay closed. She had a surgical procedure to expand the opening of her esophagus, but that wasn’t the end to her problems.
Any time Heather eats, her abdomen becomes horribly bloated. She can see the food moving through her intestines through her skin. Her body can't get nearly enough nutrition. She's now on a feeding tube to ensure her body can get the calories it needs. To date, she’s seen over 100 specialists and still doesn’t have any answers to why her body bloats the way it does. Heather just wants to be able to be a great mom and a partner to her husband — and right now, 12 years after that day with a bit of pretzel, that seems like a fantasy.
The Chasing the Cure physician team was quick to act. They were immediately concerned that Heather’s condition was related to the surgery she had to open her esophagus. They were also concerned about potential damage to her nervous system and the possibility she might have an autoimmune disorder.
Heather's been connected with a team of specialists at the University of Utah. Now, the next steps are coordinating care with that team and working with a top neurologist who's agreed to review her case.
Case status: In progress – stay tuned for updates
Heather's story was first featured on episode five of chasing the cure
Case update: Quendella
When we last saw Quendella, she was given news that a team of top periodontists in Atlanta had agreed to take her case. Well, Quendella’s made it to Atlanta where she underwent a full workup by this caring team. They assessed her jaw structure, the status of her mouth infection and mapped out a care plan to put Quendella on her own path to wellness.
The radiation treatments and years of mouth infections have left the density of her jawbone compromised. Now, the Atlanta team is going to put Quendella on a treatment plan to boost her bone wellness (including hyperbaric oxygen therapy) and manage her infection to hopefully prep her for dental implants down the line. But for now, Quendella has a new reason to smile. The Atlanta care team created a custom set of dentures just for her, restoring a real smile she could call her own while she works toward a more permanent solution.
Case status: Treatment plan created — stay tuned for updates
Quendella's jaw was assessed to determine a path forward
Case File: Sharon
Sharon's a 51-year-old from Morrow, Arkansas who loved nothing more than enjoying the outdoors with her family. Fifteen years ago, she got what she thought was a bug bite which quickly became so much more.
The skin around her wound began to deteriorate. The wound ate through her skin, down to the tendons and soon spread to her other leg. Antibiotics haven't helped. She's seen countless specialists. She's lost her independence and her youngest daughter has moved in to assist with her care because her legs won't hold her up. She sleeps two hours a night because the pain in her legs is so severe. She lives in a rural community where care is difficult to access and all she wants is a better quality of life and to regain her independence.
The Chasing the Cure physician team saw the depth of Sharon's pain, from her loss of independence to her frustration with a lack of care where she lives. They wanted to act on a diagnosis suggestion from the CTC online community. Pyoderma Gangrenosum was suggested – a condition that isn't an infection at all, which could explain why none of the antibiotics have ever brought Sharon relief. The team brought in a dermatopathologist named Dr. Wendy Roberts to get a more specialized opinion on what could be causing Sharon’s leg condition.
Dr. Roberts was, in a word, delighted to see Sharon's legs. Why? Because she had seen wounds like hers before. It turns out the CTC online community was right on the money. Dr. Roberts has officially diagnosed Sharon with Pyoderma Gangrenosum, an autoimmune disorder that causes extreme ulcers to develop on the skin, usually the legs.
Dr. Roberts now has Sharon on a path to treat her wounds. She confirmed that there's no infection present (which is why antibiotics weren't helping). Sharon's now on a two-year path to wellness which includes exploring whether she has a deeper arterial condition; healing her wounds and possibly prepping her for skin grafts; a complete cardiovascular workup to ensure her medical team has a total picture of Sharon's health so they can optimize treatment.
What a relief for Sharon to finally have an answer and have a team of doctors dedicated to helping her regain her independence.
Case status: Diagnosed, treatment commencing – stay tuned for updates
Sharon's story was first featured on episode five of chasing the cure
Case update: Debra and Delaney
Last week, we saw Debra and Delaney get a remarkable explanation for their life-long condition: they were genetically identified as patients seven and eight with Warburg-Cinotti Syndrome. This is, perhaps, the world’s most rare disease.
But they didn’t bargain for a call from a first cousin they hadn’t spoken to in years.
Thanks to the answers for Debra and Delaney, their cousin Julie reached out and shared that she was having similar symptoms to theirs. Now, it looks like these cousins could be sharing just more than a family tree. Could Julie be case number 9 for Warburg-Cinotti Syndrome? Julie will have her genome sequenced by the same company, Illumina, that sequenced Debra and Delaney. Expect updates as Julie’s diagnosis progresses.
Debra and Delaney are patients five and six to be diagnosed with one of
the rarest diseases in the world: Warburg-Cinotti Syndrome.
Case file: Kevin
When you take a look at Kevin, you’ll see a 62-year-old physically fit man who’s ready for a conversation about anything. The only challenge for this Ramona, CA resident is that his voice isn’t up to the task and he doesn’t have any answers why.
About three and a half years ago, his troubles began with a raspy voice that wouldn't improve. His voice loss has stuck around and he strains to be heard. Conversations are difficult as a business owner whose job it is to take great care of his customers. He's even found talking to his wife of 42 years a strain and their long evening conversations have all but disappeared. His condition makes him feel alone and lost. He's hoping for answers so he can restore his voice and get back to the conversations he misses the most.
The Chasing the Cure physician team wanted to address his voice loss and lesions immediately. They were concerned about previous tobacco exposure causing damage. They also considered possible viral laryngitis, and wanted to order imaging of his head and neck to ensure that there wasn't a deeper cause for Kevin’s voice loss. They immediately set Kevin up with Dr. Brian Weeks.
Dr. Weeks diagnosed Kevin with muscular tension dysphonia. This is a condition where the muscles around the voice box get super tight, just like muscles in the rest of the body can get tense and cause pain. Those muscles put pressure on Kevin's voice box and create the rasp in his voice. It's a condition typically caused by anxiety and stress and Kevin was quick to acknowledge that some relaxation might be in order.
Now, Kevin’s going to be on extended vocal rest and have additional head and neck imaging performed as a safeguard. Dr. Weeks anticipates that Kevin could see a significant improvement in his voice in as little as six to eight weeks.
Case status: Diagnosed, treatment commencing – stay tuned for updates
Kevin's story was first featured on episode five of chasing the cure
To wrap up the episode, we briefly met Lauren, a 30-year-old woman from Rockford, IL. In 2017, she woke up with a swollen ankle which has gotten progressively worse. With trips to more than 20 specialists, she has no explanation for why her foot won’t improve and why it’s only her one foot. She’s been on steroids for nearly two years and now has steroid-induced Type 2 diabetes. She’s terrified she’s going to end up in a wheelchair and scared that this is “just her life now.”
Lauren's story was first featured on episode five of chasing the cure
If you have any ideas for what could be causing Lauren’s foot swelling, share your thoughts with us on the Chasing The Cure Facebook page or on Twitter. You can also visit the Chasing The Cure online community and comment on her case file directly.
E. Napoletano is an award-winning journalist and the recipient of the 2019 Illinois Women’s Press Association first-place prize for her feature on the traumatic effects of family separation policies at the border.