Tera Skeoch and Amber Musseau, both 17, have been friends since grade 4 – long before Skeoch was diagnosed with Postural Orthostatic Tachycardi Syndrome (POTS) and long before Musseau was diagnosed with Epidermolysis Bullosa Simplex (EBS).
While the pair once had an extensive group of friends, participated in school sports, and attended regular schooling – since diagnosis of their rare conditions, life has changed.
Thankfully the one thing hasn’t changed for the girls is their undying friendship and daily support in helping one another navigate the difficult world of their rare genetic conditions. This week Skeoch and Musseau are reaching out to the community in hopes of spreading awareness as October is both POTS and EBS awareness month.
Skeoch’s journey with POTS began at the age of 12.
She recalls it was an ordinary day. She was returning home to Sylvan Lake on a flight from Arizona – while in the air, Skeoch suffered four seizures, with close to 40 seizures in 24 hours after getting off the plane. She was transported to the Stollery Children’s Hospital where a string of tests were performed, only to have doctors find no explanation for the 40 plus seizures.
This led doctors to try a unique approach and conducted a tilt table test – a procedure which involves having the patient lie flat on the special table, adjusting the patient from a standing to laying position while monitoring blood pressure and heart rate. Using this test doctors were able to indicate Skeoch was suffering from POTS, a rare autonomic nervous system dysfunction which affects heart rate and blood pressure.
“Mornings are the worst especially when I shower I get lightheaded, dizzy and there’s a big chance of fainting,” said Skeoch who adds she uses a shower chair to avoid falling in the shower chair. “Living with POTS can be difficult because it is an invisible illness and because I don’t look sick people judge because they cannot physically see something is wrong with me,
“Even hospital visits have been extremely challenging because they have never seen a POTS episode before and don’t know how to treat it properly because it is not well known. I also miss out on a lot daily activities as even hanging out with friends can be hard.”
Skeoch explained the average person’s resting heart rate is between 60-80 beats per minute (bpm), however the average POTS patient is usually in the 100’s. She added she has seen her resting heart rate as high as 180 bpm. Her high heart rate often leads to drops in blood pressure which can cause seizures, fainting, and lightheadedness. Each day is a struggle for Skeoch, as on top of these symptoms she also at any time of the day can experience blood pooling in her legs and feet, intense head pain, shaking/ trembling from high heart rate, visual disturbances such as seeing colours, general fogginess, exercise intolerance, chest pains, stomach pains, and general fatigue.
She was forced to give up going to a regular school and now attends an outreach program where she is able to make her own schedule, which she adds is extremely helpful as it allows her to work around when she is not feeling well.
For her condition Skeoch takes beta blockers, anti nausea medication, blood pressure medication, as well as visits the hospital once a week for blood transfusions. This treatment is new for her but she adds it helps a great deal and involves a mix of a blood protein called albumin, whose main function is to regulate the colloidal osmotic pressure of blood.
Musseau’s journey with EBS began just a few short years after her friend’s diagnosis with POTS. The former soccer player was 14 when she recieved her diagnosis of a rare genetic connective tissue skin disease, Epidermolysis Bullosa Simplex.
Similar to Skeoch, Musseau awoke one morning without preindication of illness, awaking to find she had a rash of large painful blisters on her leg.
She visited her family doctor who diagnosed her with ‘swimmer’s itch’ which he attributed to the lake. Musseau and her parents knew there was something else happening and she was eventually referred to the Stollery Children’s Hospital. A year of medical appointments passed without diagnosis – once a month she would visit the hospital where as many as 50 doctors would see her in a day all hoping to find the young teen a diagnosis. Eventually it was through this process a doctor took skin biopsies from her leg, chest, and arm and sent them away to a lab at Stanford University in California.
The tests came back positive for EBS, making Musseau the first person in the world to get diagnosed with EBS at her age as EBS is typically a conidtion you are born with, showing signs as early as birth.
EBS causes the skin to blister and fall off from the slightest trauma such as friction, with Musseau adding it is known as the ‘worst disease you’ve never heard of’. EBS not only affects the skin, but also the internal organs and bodily functions and is cause by mutations in the DNA coding which make up genes. These genes are responsible for making up the proteins Musseau lacks in her skin.
“The blisters are very painful, I get them all over my body and they leave scars,” she explained of her condition. “I get them from friction, from sweating, and just randomly without any cause sometimes.”
The time following her diagnosis were extremely difficult – although she now had a diagnosis, there was no cure and no available treatment. Not only was she forced to stop playing soccer, she began to get blisters on her face.
“I began to get bullied while in school and eventually had to leave and attend Outreach because the kids were so mean,” she remembers of her grade 9 year. “My whole face used to be blistered, so kids would call me mean names like ‘Herps’, anything to make me feel bad about myself when I already felt terrible inside. There were days I would go cry in the bathroom because of what they said to me and eventually I just couldn’t take it anymore.
“I had friends before I had blisters, but after I didn’t have any except for Tera.”
She explained it is hard for her to shower when she has blisters as the water hurts her skin. She added those living with EBS are known as ‘butterfly children’ because their skin is as delicate as a butterfly’s wing. It is difficult for Musseau as even getting dressed can hurt, especially if she has blisters on her joints.
“What’s hardest for me is being around people when I have blisters on my face, people are really judgmental so I don’t like going to school or work or being around anyone,” said Musseau adding anything from sleeping with her face touching the pillow to sweating to accidentally bumping her face can give her blisters.
Musseau returned to regular school this year and while she is still finding it challenging she adds she is happy to be back in high school.
There is no cure for EBS, with her only option being a cream called Cicablast to help the smaller blisters heal, with nothing working on bigger lesions. While some people have had success with bone marrow transplants they are extremely painful and not a guaranteed answer. Musseau added there are currently clinical trials taking place in the U.S. for a cream called Zorblisa which is supposed to treat skin blistering caused by EBS, however she knows very little about it and it could take years to reach Canada.
Both Musseau and Skeoch agree they find comfort in one another’s friendship as it can be hard for other people their age to understand what it means to have a condition such as POTS or EBS.
“I just thinks it’s important for people to be aware there are people struggling with these conditions every day around the world,” said Musseau with Skeoch adding, “If people knew more about our conditions maybe they will be less quick to judge – it would be nice to live in a world where if you walked up to some one and said you have POTS or EBS, they would know what it is and understand what you are going through.”
Neither Musseau or Skeoch have ever met another individual with their conditions but have found solace in online forums on Facebook where they are able to chat with people around the world living with EBS and POTS.
For more information or to donate in hopes of helping researchers to find a cure visit www.firstgiving.com/fundraiser/tera-skeoch/POTS or by visiting Amber Musseau’s personal facebook page where has posted links to her fundraising efforts.