Knesset panel: Kids with ‘orphan diseases’ don’t get help

MK says Health Ministry, National Insurance Institute discriminating against children born with very rare genetic syndromes.

Health Ministry 311 (photo credit: Ariel Jerozolimski)
Health Ministry 311
(photo credit: Ariel Jerozolimski)
Children who have the misfortune to be born with very rare genetic syndromes, such as Camurati-Engelmann Disease (CED), that affect only hundreds or thousands of people around the world are discriminated against by the Health Ministry and the National Insurance Institute (which do not cover all the costs of treatments and medical equipment).
So said the Knesset Public Complaints Committee, which on Wednesday held a session on “orphan diseases” that affect only a small number of people.
Committee chairman MK Uri Maklev (United Torah Judaism) said that not giving the parents the necessary assistance “turns them, against their will, into nursing care workers and prevents them from having a normal life,” in addition to leaving the children with inadequate care.
CED, also known as Engelmann Disease or Syndrome or Progressive Diaphyseal Dysplasia (PDD), is a disorder of the bones whose victims are disproportionately Jewish, especially those of Iraqi origin. Victims’ bones, which are often excessively hard, are not naturally being broken down and rebuilt (“remodeled”) by the body as time passes. Instead, patients suffer pain in their limbs that restricts movement and have a waddling gait; they also have fatigue, weakness, muscle spasms, headache, difficulty gaining weight and a delay in puberty.
The pain often occurs as unpredictable acute flareups that make the symptoms especially difficult. Internal organs may also be affected, and there are often mental retardation, hearing and vision difficulties. Some CED patients need to be in a wheelchair and many require constant help from a caregiver.
According to epidemiologists, there are only between 50 and 100 children with the genetic disease, thus the number of affected families is too small for them to have a powerful lobby.
Maklev demanded that the Health Ministry contact the National Insurance Institute and Welfare and Social Services Minister Moshe Kahlon to change state criteria to enable people with orphan diseases to be helped.
“It is only a small group of people, so huge budgets to help them are not necessary,” said the MK, who noted that people with autism, Down’s Syndrome, deafness and blindness – who represent a much larger group – have no such difficulty getting assistance.
Merav Buchris, mother of an 11-year-old girl who was diagnosed with CED at the age of 10 months and suffers from 98 percent retardation, said she received some help only when her daughter turned three. She added that she had appeared before NII committees dozens of times but her requests were regularly turned down when she asked for coverage of special treatments and equipment because the disorder is so rare and unknown.
Prof. Asher Or-Noy, head of the Health Ministry’s department for child development, said CED is a very difficult disease to cope with because it is an orphan disease. He said that CED is regarded by his ministry as a somatic developmental disorder, making parents exempt from paying for many of the treatments, but they are not aware of their rights.
Or-Noy said he would distribute guidelines to all child development institutes so that families could know about available help.