3.7 C
Munich
Thursday, March 28, 2024

Bones break like matches. “The medicine looks like a miracle, but it is not available in Poland”

Must read

“When we started participating in the study, Ola’s bones were almost transparent in X-rays. She did not have the strength to get out of bed, she was in a wheelchair or we carried her in our arms, she often broke down. Today, after 9 years of therapy, the bones are clearly visible on x-rays. Ola is very active, rides a bicycle, goes to dance school,” says Yolanta, the mother of a girl suffering from a rare disease – hypophosphatasia. October 30 is World Hypophosphatasia Day.

Crooked bones, skeletal deformities, recurrent fractures, premature tooth loss, weakened muscles, problems with movement, constant pain – this is what the daily life of patients with hypophosphatasia (HPP) looks like. This is an ultra-rare genetic disease that threatens health and life. It is also called brittle bone disease because patients’ bones break as easily as matches. Infants, children and adults are affected.

Most neonatologists, pediatricians, orthopedists and doctors of other specialties do not have knowledge about this ultra-rare disease, which is why its symptoms are confused with other diseases, and for a correct diagnosis it is often necessary to wait years, during which the disease progresses and the patient’s condition worsens.

In the case of 12-year-old Ola from Wroclaw, the diagnosis took 2.5 years. “After the birth of my daughter, it became obvious that something was wrong. Ola had crooked arms and legs and crooked bones, says the girl’s mother, Jolanta Kwolek. “There were tears and anger.” My husband and I wondered: why? At first, doctors suspected that Ola had fragile bones, but this was not confirmed. We wanted to know what our child was suffering from. We looked for help everywhere, visited specialists all over the country, I even wrote to two doctors in the USA. Based on the description of the symptoms, one of them diagnosed Olya with hypophosphatasia. The diagnosis was confirmed by tests carried out in the country, explains the mother of the young patient.

Hypophosphatasia is an inborn error of metabolism. An error in one of the genes results in the patient’s body not producing an important enzyme, alkaline phosphatase, which is responsible for bone mineralization. This, in turn, leads to numerous fractures, a number of other symptoms and associated complications.

The basis for diagnosing hypophosphatasia is the study of alkaline phosphatase levels. This is a simple peripheral blood test that is also performed for other diseases. In the case of HLP, the lower limit of normal for this enzyme varies depending on the age and gender of the patient, which is why the results are often misinterpreted.

The disease was first described 75 years ago by Canadian physician John Campbell Rathbun, and the first cases of familial disease were confirmed in the 1950s. It is estimated that 1 in 300,000 children in Europe are born with severe hypophosphatasia. To date, approximately 25-30 people have been diagnosed with this disease in Poland.

Life subject to illness

Most people suffering from hypophosphatasia in Poland are under the supervision of Dr. Hub. physician Isabela Michalus, pediatrician and neonatologist at the Department of Endocrinology and Metabolic Diseases at the Polish Maternal Health Center in Lodz. – This is not a homogeneous disease. Its course in a particular patient depends on the form of hypophosphatasia, of which there are six. HPP can occur in both infants and adults. The earlier symptoms appear, the more severe the course, explains Dr. Hub. Isabela Michalus. – The most severe form, perinatal, affects newborns and has a mortality rate of almost 100%, especially if the deformed chest causes breathing difficulties or even respiratory failure caused by improperly developed lungs. But later forms, such as childhood, due to their progressive nature, place a heavy burden on patients and their families, leading over time to disability, the expert explains. Due to repeated fractures and numerous operations, they are repeatedly hospitalized, and every third patient with HPP moves in a wheelchair.

Several years ago, Kamila Anna Dratkovich, a 40-year-old woman who has suffered from hypophosphatasia since childhood, the founder and president of the HypoGenek Foundation, which supports HPP patients and their loved ones, was forced to move in a wheelchair. “The disease has deprived me of my independence. More and more often I have to ask someone for help. Even just throwing out the trash is a problem for me. Shopping is unrealistic because, unfortunately, I cannot take a liter of milk and a few vegetables with me. And living alone on the third floor is the same challenge for me as climbing K2 for a healthy person,” says Kamila. Today it’s hard to believe that she could still dance as a teenager. “Hypophosphatasia forced me to say goodbye to the two things I loved to do most: dancing and cycling,” she adds.

Patients agree that hypophosphatasia is a disease that “rules” the lives of patients and their families. This is the case of Louise Maschak-Doudis and her two children, 16-year-old Igor and 13-year-old Lena, who were diagnosed with HPP. Among other things, her childhood illness ruled her out. from professional development and active pastime, and Igor and Lena – because they do not know how to run or play sports – from their peers. Hypophosphatasia robbed them of their childhood. – My son has never played football. He cannot play contact sports. We live in the Silesian Beskids, and hiking in the mountains was our passion, which is how my husband and I met. We gave up this hobby because our children, especially our daughter, cannot even go for a long walk; it is too hard for her,” explains Louise Maschak-Dudis. Instead of running and playing with their peers, her children attended rehabilitation 3-4 times a week. In addition, there is a fear of every fracture, because every injury is associated with a high risk of complications. They also shake their teeth so they don’t fall out, but what next? “I admit that my children were and are still hiding,” says Louise, who is very worried about their health in the future, because the disease will progress.

There was hope

Currently, the standard treatment for hypophosphatasia is symptomatic treatment. Patients are treated with calcium, vitamin D, K and C supplements in combination with rehabilitation, surgical and orthopedic procedures. Painkillers are also an important element of therapy. And in the case of infants with chest deformities leading to breathing problems, mechanical ventilation is used.

A few years ago, a long-term enzyme replacement therapy drug, asfotase alfa, became available and registered to treat the bone symptoms of childhood hypophosphatasia. This is the first and only targeted drug for this disease. – Simply put, this treatment involves injecting the patient with an enzyme missing in his body. The advent of this treatment method absolutely changes the reality of patients with hypophosphatasia, says Prof. Jolanta Sykut-Ciegielska, National Consultant in Metabolic Pediatrics, Head of the Department of Congenital Metabolic Defects and Pediatrics at the Institute of Mother and Child in Warsaw. “Seeing how this drug works, I have to say that it is almost miraculous,” adds Dr. Hub. Isabela Michalus.

The daughter of Jolanta Kwolek from Wroclaw began therapy as part of a clinical trial several years ago. “When we started participating in the study, Ola’s bones were almost transparent in X-rays. Ola often cried because of pain in her legs and did not have the strength to get out of bed. She was in a wheelchair or we carried her in our arms, she often broke down, and in total she had about 30 hospitalizations,” says Ola’s mother. – Today, after 9 years of therapy, the bones are clearly visible on x-rays. Ola does not break down, is very active, plays sports and rides a bicycle. She has a new hobby – dancing. She goes to dance school and goes to competitions,” says Yolanta, who is very happy to see that her child behaves in the same way as her peers.

The drug is currently not available to patients in Poland. – Medicine is making great strides, new treatment methods are emerging. People with rare diseases have an extremely difficult life, so if there is a targeted treatment for them – and this only applies to 5% of the 7,000 rare diseases – we must do everything to make them available, says Prof. Jolanta Sykut-Ciegelska.

The need for multidisciplinary care

Currently, there are no reference centers for patients with hypophosphatasia in Poland. Patients with this disease should be treated by centers specializing in the treatment of rare diseases, but according to experts, this is not the case. They end up in different institutions, depending on which specialist deals with them.

This was evident during the 1st Congress of Hypophosphatasia Patients and Their Families, which took place on September 30, 2023 in Łódź, on the initiative of the HypoGenek Foundation. Adult patients and parents of young patients exchanged information with each other about which dentist in Poland to turn to for help or treatment, which orthopedic surgeon is better to operate on, etc. Different specialists will monitor the hydroelectric power station, comments Prof. Jolanta Sykut-Ciegelska.

Interdisciplinary care is lacking today, just as basic information about hypophosphatasia was lacking ten years ago. This is how Kamila Anna Dratkovich, president of the HypoGenek Foundation, recalls it: “In 2014, my health began to deteriorate, and I searched the Internet for information about hypophosphatasia. I found articles in French, German, English and Japanese, but nothing in Polish. I thought I would start describing my life. “I started a blog, and eventually a foundation, just to make it easier for other sick people than I had,” she says. Over time, other patients with hypophosphatasia began to turn to her. They started supporting each other. Camila finally felt like she wasn’t the only person battling this disease. She has written a book about living with hypophosphatasia called You Are Unbreakable and also maintains an Instagram account. He believes that by telling his story, he gives hope to parents who learn that their child is sick, that it is possible to live with this disease, although it is not easy.

Source: Press materials
  • Patient area
  • Rare diseases

Source: Wprost

More articles

LEAVE A REPLY

Please enter your comment!
Please enter your name here

Latest article