Two patients in Israel need an expensive drug for severe liver disease, which is currently being discussed in the drug basket committee.
This is the rarest disease discussed this year by the committee, which determines which new drugs and medical technologies will be added to the state drug basket in 2022.
It is a disease known as "Acute Hepatic Porphyria" which results from a genetic disorder in the liver.
The disease leads to extreme and paralyzing pain attacks, which can cause immediate life-threatening, particularly severe nerve damage that causes muscle weakness, severe nervous system disorders, high blood pressure, liver and kidney failure, and very severe depression and anxiety to the point of suicide attempts.
The new drug GIVLAARI, the first in the world to be developed and approved for the treatment of the rare disease, is being submitted for the second time to the basket committee.
Last year it did not reach the final list of recommended drugs, but this year it received a high score by the committee ahead of the final discussions.
According to medical estimates submitted to the committee, the drug is intended for only two patients in Israel, at an annual cost of about one million shekels per patient.
The drug is manufactured by the American pharmaceutical company Alnylam, and marketed in Israel by the Madison company.
"There is no therapeutic alternative."
Dr. Adele, Photo: Yossi Zeliger
Dr. Jonathan Adele, director of the only porphyria clinic in the country at Beilinson Hospital, which accompanies patients with the rare disease, has already written to the committee that the drug "shows high efficacy in preventing and significantly reducing seizures in patients who experience extreme suffering and pain and poor quality of life. High and are in real danger of irreversible multi-system damage. The drug will be able to help individual patients in Israel, for whom there is no therapeutic alternative. "
Dr. Adel told "Israel Today" about a very unique group of patients, suffering from a disease that most doctors feel helpless in the face of, and even if they have heard of the disease once - they do not know the symptoms nor the ways of diagnosis and treatment. Therefore, patients suffering from symptoms are usually diagnosed late during their illness, and even after diagnosis need a companion hand. "It was only when I started treating these patients that I really understood why rare diseases are called 'orphan diseases' - not only because there are usually no drug companies that promote patient care, but also because patients feel completely alone."
According to him, the drug is intended for a very small percentage of patients with offensive porphyria in Israel - one or two patients a year - who suffer from recurrent and uncontrolled seizures.
"This is a drug with a new technology that has been worked on for decades, and at a good time - it also exists in Israel, but is very expensive. Without this treatment, patients are hospitalized with severe pain, extreme weakness and various neurological and psychiatric symptoms, and reach life-threatening conditions."
"Hope for a normal life."
Vinitsky, Photo: Gideon Markovich
"Life Saving"
Israel Today has learned that the new drug has been received by two patients in recent months, as part of special and time-limited funding from the Exceptions Committee of the Maccabi Health Fund and a commercial insurance company.
One of the patients is Igor Vinitsky, 38, from the center of the country, and he says: "Porphyria is a disease that is really hell. It affects young people like me, and it is impossible to describe how much suffering it causes. For years I suffered severe pain, I was hospitalized and had lots of tests, but It took a long time until we were diagnosed.
"I got into a state where I was anesthetized and respirated, and I was in real danger of death. This disease, it's like getting hit in the head in mid-life, and because of that my life was turned upside down. The family went through a difficult upheaval, I left work and at 38 "My life will return to normal. It is a rare but very cruel disease, and the drug must be accessible to patients through the drug basket."
Another patient who receives the drug with temporary funding from her private health insurance is she-Li, 19, from the center of the country.
"Before the drug I would get a severe attack of the disease every few months," she says, "and in the first attack I was really life-threatening. You can't live like this, and you go into depression. This disease is a nightmare. The attacks are terrible, and I came to intensive care with fever and seizures. I begged to be given the strongest painkillers available, just to stop the pain.
"I'm a young girl at the beginning of my life, and this drug is what makes me believe I can go back to my normal life. Since I was treated I have not had a seizure, and I get up with a smile on my face. It makes me stop being afraid of a severe seizure every moment, "Instead of being in terrible fear all the time. This drug gives me a protective wall against the disease, and it really saves lives."
The drug basket committee did not respond to a request for comment.
Were we wrong?
Fixed!
If you found an error in the article, we'll be happy for you to share it with us