A disease is considered “rare” if one in every 2,000 people suffers from it. The best-known “rare diseases” are cystic fibrosis or the butterfly disease, Epidermolysis bullosa, but there are between 6,000 and 8,000 diseases worldwide that are described as “rare”. Most of them are genetic and inherited from parents.
This also applies to MECP2 gene duplicator syndrome. In Austria there are only eight people registered with the genetic defect; in Vienna there are two. In the rare mutation, the MECP2 gene located on the X chromosome is duplicated. The duplicated gene produces an excessive amount of the MECP2 protein, which normally regulates other proteins. Overproduction leads to regulation errors, which results in developmental delays.
Long road to diagnosis
Symptoms of the disease include intellectual disability, movement disorders, speech difficulties, spasticity and epilepsy. Six-year-old Matteo, who lives in Vienna, realized this very early on. Even so, he only received the diagnosis at age three, after his parents pushed for genetic testing. “We visited many doctors to find out what was happening with Matteo. But it was always the same story: you have to wait, he needs more time to develop. But we, as parents, knew there was something more,” says mother Caroline Covini.
The diagnosis was a shock for the family, but also a hope of finding like-minded people. There could be more of them, says Father David Covini: “We think the syndrome is not well known enough for doctors to recognize it immediately.” Therefore, there could also be other undiagnosed cases in Austria. The Covinis founded the “Let's Cure MDS” association for self-help, where they are also working on a European-wide registration database to ensure better networking among those affected.
ORF Vienna Matteo's medical record is already well filled out, despite his young age
Neonatal screening as an important measure
In fact, there has been an improvement in the diagnosis of rare diseases thanks to technical progress, says the head of the Vienna Pediatrics and Adolescent Clinic, Susanne Greber-Platzer. Some of the diseases can be detected before birth and Austrian newborn screening also plays an important role in diagnosis. “We screen for 31 diseases, 29 of which are rare, which also have consequences and require early treatment options,” says Greber-Platzer.
The biggest obstacle in recognizing a rare disease is the variety of symptoms. It is therefore important that children with non-attributable anomalies are examined in a hospital where specialists can work together in a multidisciplinary way, says Susanne Greber-Platzer. The pediatric and adolescent clinic specializes in rare diseases and can offer therapy or support with symptomatic treatment.
Lack of research interest
However, after a successful diagnosis, those affected face new obstacles. The Covini family describes that many doctors, but also physiotherapists and speech therapists, do not have enough knowledge about a specific disease. When her son Matteo has to go to hospital because of an acute illness, “sometimes we know more than the doctors”, sighs Caroline Covini. In these cases, she prefers to talk to the parents of other affected children.
The Covini family's greatest hope is to find a cure for their son, but the rarity of MECP2 gene duplication syndrome is also a disadvantage. “If we are so few affected, there is no interest from the pharmaceutical industry in developing anything”, says David Covini. It is not for nothing that medicines for rare diseases are also called “orphan medicines”, that is, orphans among medicines.
In the case of MECP2 gene duplication syndrome, research is ongoing despite its rarity – the focus is on genetic engineering. It may be possible that in the future the duplicate will be “turned off” and the symptoms will subside. This is great hope for the Covinis as their son's illness continues to worsen. Currently, the six-year-old has limited mental and motor skills, but is still alert and active. But, progressively, epileptic seizures can occur, “and we don't want to go through that at all”, say the parents. They hope for an early breakthrough in research.