Enzyme therapy for patients with bone symptoms in the course of hypophosphatasia (HPP for short) has been included in the list of reimbursed drugs effective October 1. Importantly, access to the treatment is available to both children and adult patients with HPP, something both the patients themselves and experts have been calling for.
- Until now, hypophosphatasia has been a disease that has taken away health and life, not to mention dreams. One in three patients, including myself among others, must get around with the help of a wheelchair. Treatment won't fix what the disease has already destroyed, but it can prevent further dramas and open a gateway to a better life for patients," believes Kamila Dratkowicz, president of the Hypogenek Foundation, which works for HPP patients and their families. - Therefore, on the occasion of our holiday, we would like to express great gratitude to the Ministry of Health for listening to our requests and making therapy available, and to the experts, especially the national consultant in metabolic pediatrics, Prof. Jolanta Sykut-Cegielska, as well as Dr. Izabela Michalus, under whose care the largest number of patients with hypophosphatasia are, we thank them for their exceptional support in this difficult path.
Hypophosphatasia is an inborn metabolic defect. An error in one of the genes causes the patient's body to fail to produce an important enzyme, alkaline phosphatase, which is responsible for bone mineralization. This leads to a number of consequences, such as skeletal deformities, recurrent fractures, prematurely falling out teeth, muscle weakness, mobility problems and constant pain. Infants, children and adults are affected. In Poland, there are currently diagnosed approx. 30 patients with HPP.
Amazing effects of treatment
The celebration of World Hypophosphatasia Day is also a good excuse to summarize activities for the benefit of the community of patients with the disease, and there was no shortage of these in the past year. The Hypogenek Foundation organized the Second Meeting of Families with Hypophosphatasia in Lodz, which was attended by the vast majority of Polish patients, published a Patient Handbook on HPP, and built public awareness of the disease, including by giving interviews to the media or participating in various conferences.
Currently, patients and their relatives are waiting to be included in the treatment. They make no secret of the fact that they have high hopes for it, as does Marta Bator, mother of a 13-year-old with the disease since early childhood. - Above all, we hope for greater independence for our children. In the case of my son, who is graduating from elementary school this year, it's certainly the ability to choose among different high schools. Until now, I was afraid every day whether my son would develop a fracture. Now I will be able to sleep more peacefully. It's a dream come true for us, because watching your child crying in pain every day is a huge suffering, " explains Marta.
Also for specialists who care for patients with hypophosphatasia, the MZ decision means a big change. - Until now, we had only symptomatic treatment to offer patients, including vitamin preparations, surgery or rehabilitation. Now they will be able to benefit from the first and only therapy used in hypophosphatasia. It's a breakthrough treatment that involves administering an enzyme that is missing in the body through subcutaneous injections. The effects of the treatment are amazing. It will certainly change the patients' outlook on life, which makes us doctors very happy as well," says Prof. Jolanta Sykut-Cegielska, National Consultant in Metabolic Pediatrics, head of the Department of Inborn Metabolic Defects and Pediatrics at the Mother and Child Institute in Warsaw.
The diagnosis of HPP is based on a test of alkaline phosphatase levels from peripheral blood. 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.
