Appeal to Minister Izabela Leszczyna: parents of children with hypophosphatasia ask for medication

The July announcement of the list of reimbursed drugs did not include the long-awaited enzyme replacement therapy used to treat hypophosphatasia, an ultra-rare genetic disease caused by a lack of alkaline phosphatase, an enzyme responsible for bone mineralization. – With the change of government, we had great expectations and hope. When, at the end of last year, Prime Minister Donald Tusk announced that an additional PLN 3 billion would be allocated to the treatment of children with rare diseases, we felt calmer. We believed that our children would finally receive a drug that could save their lives, restore their mobility, give them back their childhood, return them to the community. It would prevent them from becoming crippled. This belief was also shared by adult patients with hypophosphatasia, who were “wheelchair bound” by the disease and who continue to “break down” – parents of children affected by hypophosphatasia write in an appeal to the Minister of Health – Our children’s bones break as easily as matchsticks, and we have to watch helplessly as they suffer. It’s like a verdict we can’t appeal.. What can we do to finally ensure that our children – excluded by the system – are noticed and can receive treatment? – they ask in the appeal and request – Please save the lives of our children, protect them from numbing pain, deepening disability and premature death!

Hypophosphatasia (HPP) is an ultra-rare genetic disorder that threatens health and life. It is often called brittle bone disease because the bones of patients with HPP break as easily as matchsticks. Babies, children and adults are affected. The youngest often require mechanical breathing support because the rib cage does not develop properly. In the case of the disease occurring in infancy, only a few survive. Those with a milder course of the disease have recurrent, often dangerous fractures and skeletal deformities, as well as prematurely falling out teeth, weakened muscles (including those responsible for breathing), problems with movement – For our children walking a few hundred meters is an effort comparable to climbing Mount Everest – and pain… Almost every night the pain wakes them from sleep. Every day we fear for their health and life, whether they will not break something that will immobilize them for many months – Parents write with regret in the appeal.

– Unfortunately, when we hear that the only therapy – which works on the cause, not the effect of hypophosphatasia – has not been reimbursed yet again, our hope fades. We have been waiting for access to it for 9 years, because that is how long it has been since the drug was registered. We envy neighboring countries where it is available to children. Anger and resentment grow in our guts – on the one hand, doctors tell us during visits that there is a medicine that “works miracles”, and on the other hand, they explain that they cannot prescribe it to our children… Its effectiveness is proven by individual cases of Polish patients who had luckily, they received treatment as part of a clinical trial. The condition of one of them, 13-year-old Ola, has improved enough for her to be able to pursue her dream of learning to dance, not to mention that she can walk down the stairs without any major problems or ride her bike to school on her own. Meanwhile, other children with hypophosphatasia have difficulty getting out of bed, have trouble walking normally, eating properly, because the disease progresses. We don’t understand why they can’t receive treatment?! What are we supposed to tell them when they ask about the future, whether they will be in a wheelchair? How do we explain to a child that they will become disabled? – they admit with regret.

At the beginning of May, it seemed that everything would end well and the only drug registered for the treatment of hypophosphatasia would finally be made available to patients, but this did not happen.

– Extraordinary empathy and Minister Maciej Miłkowski, whom we met in May, showed understanding of our situation. We were full of hope, because the Minister approached the situation of our children with great care and openness. For the first time, someone listened to us. But the minister is gone and so is the decision regarding our children. Instead, there is our despair, which we face every day, which we try to hide from our children. Rare diseases and the treatment of young patients were supposed to be a priority for both the ruling coalition and the Ministry of Health – do not make us believe otherwise – they appeal.

In Poland, around 25 people suffer from hypophosphatasia, most of whom are children. For them, access to enzyme replacement therapy is a chance for a life without pain and suffering, as well as the prospect of a future without disability.

– The introduction of enzyme treatment completely changes the course of the disease, an example of which is hypophosphatasia, in which this therapy gives breakthrough effects. There should be a refund for patients who need such treatment and qualify for it. Enzyme treatment, if started early, significantly improves the prognosis. Many patients can lead an almost normal, everyday life, without the burden of the disease – she said in one of the interviews. Prof. Jolanta Sykut-Cegielska, national consultant in the field of metabolic pediatrics, head of the Clinic of Congenital Metabolism Defects and Pediatrics at the Institute of Mother and Child in Warsaw.

Patients and clinicians are waiting for the decision of the Ministry of Health and hope that enzyme replacement therapy will appear on the next list, thus happily ending the long-standing fight for the drug.