My journey with X-linked hypophosphatemia, or XLH, started with my grandmother. It’s a rare inherited disorder characterised by low levels of phosphate in the blood.

She passed XLH onto my dad, who passed it on to me. There was a certain amount of shame attached to it, so they were never really open about the condition. My mum was the one who did all the digging once she started seeing signs in me.

Someone with XLH has low phosphate levels, because phosphate is abnormally processed in the kidneys, which causes a loss of phosphate in the urine and leads to soft, weak bones.

I was smaller than everyone else and a doctor diagnosed me with hypochondroplasia [a form of short-limbed dwarfism] at the age of five and sent me to a specialist children’s hospital. I had surgery twice to correct my limbs as my legs were bowing.

I’m 4ft 7.5in. When I was in my late teens I was in hospital in Sheffield and was told I have XLH, not dwarfism. My legs are short, but my arms and torso aren’t. And by the time I found out I had XLH I was too old for children’s hospital so they transferred me to Lancaster Hospital.

I started researching XLH and it all clicked, spotting all the symptoms that I had. It was quite upsetting for me and my mum that I’d been treated for years for something I didn’t have. I cried my eyes out when I found what I actually had.

The current treatment for XLH is phosphate sandoz, which is a tablet you dissolve in water. You need that five times a day as it only lasts in your body for two hours. It’s not a good medication for XLH, as it doesn’t solve anything. You’re still without phosphate in your body at the end of the day. You still have all the symptoms, the aches and the pain.

The main impact I felt was when I fell pregnant with my eldest in 2017. That’s when people started caring about me. I started having phosphate infusions for 12-hours pretty much through the entire pregnancy, because I couldn’t tolerate the tablets by then. I was pretty independent then and okay health-wise, but the second pregnancy was a bit worse.

It wasn’t until the pandemic arrived that I started declining. It started off when I’d finish a 12-hour shift at the supermarket and would struggle to get home. When I got there my husband would have to carry me up the stairs. I thought this isn’t normal, you should have the energy to walk up the stairs after work. But I was so stiff and sore. Paracetamol couldn’t help, so I was put on tramadol.

Due to Covid and the fact I’m asthmatic I was off work for six months. The first day back I crouched down to put things on the shelves and felt pain in my leg when I stood up. The GP referred me for an X-ray and they found two stress fractures in my lower leg which is a direct result of weak bones, due to the XLH. That became more of a symptom as an adult.

I couldn’t tolerate the treatments the NHS provides for XLH so I had nothing to help me, which contributed to me declining so fast. I was off work for another six months with my leg in plaster. I returned to work but within weeks I felt like my hip was dead. I was struggling to do the school run. My hip just wasn’t doing its job.

Two months later I was still in pain so I went back to the GP who referred me for another X-ray. They found two stress fractures in my hip on the sane side as my leg fractures. You can’t put a cast on your hip so it was just bed rest for me, which is difficult when you have a three and a four-year-old.

My husband had to leave his job to look after me and do the school run. I’m still off work as I haven’t recovered properly yet. Work aren’t happy about that because I’ve had so much time off already, but there’s nothing I can do.

We’re on universal credit to help with our wages. I had an assessment which concluded I’m not capable of working, so I’m in the whole process of losing my job. Work want me to quit but I’m not allowed to – I’ll be sanctioned for it and lose the universal benefit. So we’re trying to work out what to do.

I have to wait for them to fire me I suppose, which is degrading, as I really enjoy my job. I’m close to the staff and management, so it’s sad having to go through that.

I don’t even mind the comments I get, daily, at work from people. Especially around Christmas time: ‘Oh, I didn’t know the supermarket hired elves’. Or ‘I should be asking you for ID’. I’m 26. ‘Are you kneeling behind that desk?’ is another one I get. I have it constantly. I manage to laugh about it. I’m used to it, I guess.

XLH is a condition that doesn’t get better over time, especially as there’s currently no treatment for me. The past two years I’ve been so nervous about the future. I’ve seen what’s happened to my parents. Dad struggles to put his socks and his clothes on, can’t do any weight bearing at all. I’ve never known my mum to be able to walk on her feet, so I know what’s coming. I know what to expect. It’s so daunting. I feel like now is the time that everything is going downhill.

I went to town yesterday and in what would have been a normal trip for me two years ago I really struggled this time I’m in between crutches and a wheelchair. I used to have a mobility car, adapted to me, but when the assessment process changed I didn’t qualify for a car any more, so they took that away from me.

My daughter had a blood test at birth and was also diagnosed with XLH – there’s a 50-50 chance I could have passed it down. She’s on really good treatment now, called burosumab, which is only available to children on the NHS, not adults, so I can’t have it. It trains the kidneys to function correctly and reabsorb the phosphate. I can’t have a kidney transplant because the same problem would happen. It’s miracle for children – they had bowed legs which straightened alone from this injection every two weeks.

But it costs £3,000 per 10ml. My eldest uses 20ml, so that’s £6,000 every two weeks. I couldn’t afford to go private and have that. It’s impossible. The NHS don’t think it’s cost-effective for adults. I do.

I work with the Shine a Light in XLH campaign and the company leading it, Kyowa Kirin, to try and raise awareness of this. And direct people to the XLHuk.org charitable trust website. Not many people know the burden of XLH. They just think it’s rickets and someone says to ‘eat more cheese, you’ll be fine then’. That has nothing to do with it. Doctors have tried to put me through to a dietician, who can do nothing for me. That’s how ill-informed even professionals are, because it’s so rare. You have to explain it over the phone to someone every time.

I should see a special dentist, but I don’t. I should have blood tests, frequently, but I don’t. I haven’t had one in two years. I haven’t seen my new specialists at all in about two years. For adults the care is appalling for someone with XLH. You have to fight to get to a pain clinic, you have to fight to get an X-ray. It shouldn’t be that way.

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