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Life is complicated when you don’t have the tools you need



Michelle radiates warmth and determination. Her story is about resilience in the face of a rare disease that places immense emotional, financial, physical, and social strain on herself and her loved ones.

While she lost her way on a number of occasions, during which she stopped actively managing her PKU, Michelle came back far stronger every time.

Michelle has found it problematic to manage the condition at every stage of her life. From the early days, when as a child she was not responding to treatment and she could only be persuaded to take the supplements with apple juice, through to the turbulent teenage years when she feverishly wanted to blend in with her peers and feel like she belonged rather than having to take her scales out and explain, yet again, that her diet is not about weight loss.

“[Managing my PKU during] puberty became more and more tiresome. I rebelled more. Then at some point, I gave up. There was a time I did not follow the diet anymore. This caused arguments at home. In hindsight, I am very grateful to my parents – they only wanted what was best for me.”, Michelle explains. This challenging period also had an impact on Michelle’s sister, “During that time, my parents focused on me a lot. She often had to take the backseat. Looking back, I feel sorry, if I had the chance do it all again, I would try harder to stick to the diet – it would have saved everyone a lot of hardship.”

As she grew older, Michelle faced different challenges “I was treated in a paediatric clinic up to the age of 18. That is where I received nutritional training and had access to a dietitian. But there was no doctor specialising in PKU anywhere near me. This is when I started feeling like I was only half-included. I was not being taken seriously”. Now, Michelle still feels that living with PKU is difficult, and sees it as something she has to overcome every time. You don’t have to do twice as much but three times as much. It’s a lot. In ideal circumstances, you can manage PKU well. But when life gets in the way, when new situations arise, when social life gets in the way, it’s incredibly hard.”

At 25, after having been off her diet for an extended period, feeling frustrated and depressed, Michelle wanted to return to care and get her blood phe levels back on track, only to find herself pushed aside. “I went to my GP who had known me since I was a child and he did not want to prescribe any medical food. I tried every other clinic near where I lived. I was sent away by every GP. I was desperate. I was feeling very bad and wanted to start managing my PKU again. I asked for help and they told me I had fallen through the cracks, given I am not a child anymore, I haven’t followed through, and getting back is hard. These experiences were very disappointing for me.“

“I felt abandoned. I never asked for this disease, I never wanted it and then to be left so alone.”


This is a reality for many PKU patients, many adults are not following dietary treatment, standards of care vary, and many adults are lost to follow up. According to the 2017 European guidelines, life-long, systematic follow-up is recommended independent of the degree of adherence and (non-) treatment choice, to screen for long-term complications at any life stage, and provide appropriate support to patients. However, this is not always the case.

Michelle is calling for doctors to be more accessible and more informed about PKU, and have an integrated approach on how to help patients like her better manage her condition. She would also like to see more experts working together, more research into the area to help patients eat more normally without having to suffer the consequences, and lastly, more acceptance of the disease itself.

“We are not just numbers. We are people who love life and we are worth continuing to be helped.”

“Not be passed on from one specialist to another. Care is supposed to be delivered be up to age 18 and then nothing, but we still need the care and the support. My biggest concern for the future is that I will lose myself. That by not sticking to the diet and having the tools to manage my PKU, I won’t be me anymore. My brain won’t work as it does now.“