Living with pseudohypoparathyroidism (PHP)
Rare Diseases Harriet Macleod was diagnosed with PHP when she was just six years old. Now 23, she tells us about the challenges and how sport and shopping help her live life to the full.
Pseudohypoparathyroidism means the body cannot respond to the parathyroid hormone controlling levels of calcium, phosphate and vitamin D in the blood. Symptoms include low calcium and high phosphate levels, which can lead to dental problems, cataracts, seizures and tetany (muscle spasms). Type 1 is associated with short stature and obesity.
“It’s a really strange condition,” says Harriet, who’s training to be a dental nurse. “I have calcification on the brain, yet I need intravenous calcium infusions. As a child, I kept having falls, I’d pass out and be out for a while. The condition makes you small – I’m 4’5” now with a 6’-foot brother and sister – but I was never horrendously overweight. Even so, my mum used to get blamed for over-feeding.”
Social media support
When she was 12, the charity Climb found Harriet a pen pal of the same age, Holly, whom she’s hoping to meet later this year. “It was really nice for my mum to have other parents to talk to. Me and Holly used to write to each other all the time, now it’s social media, messaging each other at night. It’s helped a lot having someone who’s on the same medication, the family knows what you’re going through.”
She recommends that anyone with a rare disease get in touch with a charity and use social media for support groups and information.
The past few months have been particularly rough for Harriet, with weekly 10-hour hospital visits to get calcium infusions. “It’s a nightmare being moved around from doctor to consultant, blood tests, wards where things can deteriorate fast for me while they work out what the results mean… It’s good to have some stability now they’ve got a grip on my care. I’ve just started taking a high-dose liquid version of the medication and that seems to be helping. As a child, it was a very controlled medical condition; as an adult, new things keep coming up. I get really bad pins and needles in my hands and feet, and facial spasms – it’s not good.”
Half-marathons and shopping sprees
Despite that, “Nothing stops me!” says Harriet. “My mum’s never told me I’m any different, she makes me think I can do anything I want. We’re a sporty family. I did the Yorkshire Warrior Obstacle Run and the Harewood half-marathon.”
When she’s not studying for her final dental nurse exams this year, Harriet says she’s “a bit of a shopaholic, but I’ve been working since I was 15 and I don’t spend what I haven’t got”. She also loves travel, and is obsessed with going to pop concerts. “I tried so hard to get Ed Sheeran tickets but they’d all gone, I am so disappointed.”
The next training challenge is being a bridesmaid at her best friend Lucy’s wedding this summer: “I have a beautiful blue dress and ridiculous heels!”