Sydney mum shares shocking symptoms of extremely rare condition

·5-min read

A Sydney mum has shared the pain of her crippling and rare skin condition which causes her face to balloon and leaves her feeling like she is on fire when it hits.

Business owner Katie Preston-Toepfer, 35, was just nine years old when she noticed itchy hives forming all over her body. Her family assumed it was an allergic reaction to something and the marks soon faded.

"It didn’t happen again for a while, but as a teenager I remember doing sport and wondering why my skin hurt. It burned, ached, and I would get a rash that wouldn’t go away for hours," she recalls.

As she grew up, Katie once again started to notice her skin would periodically flare up and become painful. When she was 14, sport became a particular irritant, causing her body to burn and a rash to develop on the skin.

In 2000, Katie's parents took her to the GP where she told she could be allergic to her own sweat. Katie got a second opinion from a skin specialist who couldn’t find anything wrong aside from a few moles and freckles that needed monitoring.

Katie and her husband deal with the debilitating skin condition while raising a young family. Source: Newsflash
Katie and her husband deal with the debilitating skin condition while raising a young family. Source: Newsflash

However, Katie continued to suffer with the rash regularly and it began to leave permanent marks on her skin. Little by little, her entire body became marked with the "spots" which would flare up rather than come and go as they had during her teens.

She showed her doctor the marks in 2006 who recommended another specialist. This time, she was diagnosed within 20 minutes with mastocytosis and had a skin puncture biopsy taken, which involves taking a sample of skin to test it for a specific condition.

Katie was diagnosed with cutaneous mastocytosis which means the skin has an increase in the number of mast cells causing lesions on the skin which can also form on the body and blister.

"It’s been a long journey from having my first symptoms when I was in primary school to finally getting diagnosed in my twenties," Katie says.

"When I was nine, I remember rubbing my back against my chair at school and the teacher asking if I was okay. I got sent home after my skin became covered in hives and I was itchy all over."

She has had ultraviolet blue (UVB) treatment which involved exposure to ultraviolet rays to help reduce inflammation, but was concerned about the risk of skin cancer so stopped.

Instead, she now takes sodium cromoglycate capsules, H1 and H2 blockers, vitamin supplements to help her absorb nutrients, and carries an EpiPen at all times.

Condition has worsened over time

Katie's condition has worsened over time, with episodes leaving her with severe swelling on her face, painful lesions covering her body and permanent spots on her skin. She was even hospitalised in November 2019 for a week after the pain became overwhelming.

She has also suffered with bloating, diarrhoea, vomiting, abdominal pain, headaches and anaphylaxis – a severe allergic reaction causing in a rash, low pulse and shock – due to mastocytosis.

Although there is no cure, Katie is careful to try and lead as healthy and calm a life as possible due to the unpredictability of her condition which can be triggered by episodes of stress or a lack of nutrients.

In 2018 doctors found an accumulation of mast cells in Katie’s liver and bone marrow, and as a result now believe her condition has developed into systemic mastocytosis, which affects internal organs as well as the skin.

Katie's condition has worsened over time, with episodes leaving her with severe swelling on her face.
Katie's condition has worsened over time, with episodes leaving her with severe swelling on her face. Source: Newsflash

Katie started sharing her story on social media last year and began reaching out to other people with mastocytosis.

"One of the hardest things about having mastocytosis is it being so unpredictable. I can be fine one day and the next having a reaction and struggling. There is no set protocol for how to handle it," she says.

"I once took Nurofen after the birth of our son and within a minute my throat felt like it was closing over and I couldn’t breathe. The doctors managed to administer drugs via an IV catheter already inserted as I was in hospital, but I still had to be monitored on the cardiac ward for a day after."

Katie is now focusing on spending quality time with her husband Clinton, 37, daughter Ava, 5 and son Finley, 3, as well as continuing her search for ways to improve her condition.

"It is easy to get depressed about the situation but I always strive to be a positive role model for my children and so I try to live the way I feel best reflects this.

"In the past, I would get upset if I felt too sick to go out with friends. Now I’m older, if I’m unwell and need to cancel then I’ll be upfront, honest, and open about what symptoms I’m experiencing."

She also draws strength from sharing her story online and connecting with others

Sharing my story has helped me to come to terms with the fact that this is a part of who I am. I get positive comments from people all over the world who understand what life is like with this disease," she says.

"Knowing there are others out there that can truly relate offers a strange comfort."

Australcope

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