Continuous coordinated care is the great dream of patients with neurofibromatosis

Continuous coordinated care is the great dream of patients with neurofibromatosis

– It was a good year for patients suffering from this rare disease. However, we are still waiting for coordinated care for patients with neurofibromatosis (NF) to be introduced permanently and also cover adults – says Dorota Korycińska, president of the Neurofibromatosis Association Poland. This would mean an end to the “medical wandering” of adult NF patients who repeatedly experience unpredictable disease-related incidents.

Neurofibromatosis is an incurable genetic disease that – as specialists and patients vividly say – is like living with a ticking bomb. In its course, almost all patients develop numerous tumors and nodules resembling neurofibromas, as well as the much more dangerous plexiform neurofibromas, which can lead to significant deformation of the body and damage key organs. You never know how and when neurofibromatosis will develop, which is why it is so important for patients to be under the care of a multidisciplinary team. Depending on the need, the coordinating doctor refers the patient to treatment, e.g. in the case of scoliosis, orthopedic treatment is possible, and in the case of brain tumors – neurosurgical intervention.

May 17 – World Neurofibromatosis Day

For years, the Neurofibromatosis Poland Association has been trying to introduce a coordinated care program for patients affected by NF. This was achieved in 2020, however, the program is a pilot and covers only pediatric patients. Last year it was extended for another year. The question is, what's next? – I cannot imagine a situation where at the end of the year, NF patients will be left without health care, which will force them to undergo a diagnostic odyssey and look for specialists on their own. I believe in a positive outcome of talks with decision-makers on this topic – explains Dorota Korycińska, president of the Neurofibromatosis Association Poland, who is also the mother of an adult patient with neurofibromatosis.The vast majority of parents of young patients appreciate this type of care, feeling that if something disturbing happens to their child, they can report to the center and will receive help. Thanks to the program, we also save National Health Fund funds, which are not spent on unnecessary diagnostic tests and visits to specialists who are not familiar with the course and complications of neurofibtomatosis. Its expansion is our great dream.

Last year, two more* were added to the four Coordinated Medical Care Centers for patients with neurofibromatosis operating since 2020*. Children and young adults up to 30 years of age can benefit from the care. with a definite or very probable diagnosis of neurofibromatosis.

Complementing the fulfillment of patients' needs would be the extension of coordinated care to include adults. – Currently, after the age of 30, the patient actually leaves the system and returns to the starting point, in the sense that he is again doomed to look for a specialist. This problem must finally be solved. For me, as for representative of this group of patients, but also the mother of an adult patient with NF, the current situation is absurd and requires further systemic solutions – says Korycińska.

Issues requiring improvement

A rarely discussed problem that should also be solved is the introduction of breast cancer prevention in women with NF, because they are at a significantly higher risk of developing breast cancer. – Women with NF most often suffer from an aggressive form of cancer, and unfortunately they are not subject to routine monitoring regardless of age – translated by Dorota Korycińska. Importantly, in the case of patients with NF, it is very important to select the appropriate diagnostic and therapeutic method – due to the fact that ionizing radiation may accelerate the growth and proliferation of tumors, they should not undergo mammography or radiotherapy.

Summarizing the last year, it is impossible not to mention the revolutionary change for NF patients in Poland. Thanks to the decision of the Ministry of Health, from the beginning of January, children with inoperable plexiform neurofibromas have access to the first and only therapy.– There are not many such small patients in Poland who qualify for treatment. But for every parent, the fact that therapy is reimbursed works like an insurance policy – not every child with NF will need it, but in the event of an exacerbation of the disease, they have the option of treatment. I am overjoyed that the Ministry of Health reimbursed it – says Dorota Korycińska, president of the Neurofibromatosis Association Poland.

*The program is implemented at: the Institute of Mother and Child in Warsaw, University Hospital No. 1. Antoni Jurasz in Bydgoszcz, the University Clinical Center in Gdańsk and the University Clinical Center of the Medical University of Warsaw, the University Children's Hospital in Krakow and the Provincial Specialist Children's Hospital. prof. Dr. Stanisław Popowski in Olsztyn.

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