UMMC CARRYING OUT RESEARCH TO DETECT RARE DISEASES

PETALING JAYA (Malaysia), Feb 4 (Bernama) -- University Malaya Medical
Centre (UMMC) is conducting research on how to detect rare diseases, which
affect one in 4,000 people in the country.

UMMC's Paediatrics Department head Prof Dr Thong Meow Keong said currently
many of the rare diseases were being diagnosed late, which often put patients in
life threatening situations or caused them to become disabled.

He said rare disorders, which usually affected children, included chromic
genetic conditions that may lead to death, examples being osteogenesis
imperfecta (brittle bones), Duchenne Muscular Dystrophy (DMD), Prader-Willi
syndrome and chromosomal abnormalities.

He told this at a news conference ahead of "Rare Disease Day 2010", which
will be observed on Feb 28 worldwide.

Dr Thong said because the diseases were so rare, many patients were still
left without any diagnosis and sometimes this made doctors worried because when
the parents brought their children to see the doctor, they expected the doctor
to know everything.


"But unfortunately a lot of these diseases are still unknown or under
research," he added.

He said adding to this, there was also a shortage of doctors, nurses and
genetic counsellors who specialised in rare diseases and that most of the
experts were found only in major cities.

"In lots of smaller towns in East Malaysia, because of the shortage of such
specialised staff, many patients from this areas may not get the help that they
need," he said, adding that currently test speciments on rare diseases had to be
sent to the United States or Australia for further analyis as Malaysia did not
have the required diagnostic centres.

Thus, he said, he hoped the research carried out by the UMMC using its own
funds could be further assisted by the goverment, which could save the cost of
sending the samples abroad.

"This is not only the role of UMMC. The Health Ministry, universities,
non-
govermental and corporate bodies should also play their role to set up
foundations and give out assistance to these patients," he said.

Meanwhile, Malaysian Rare Disorders Society president (MRDS) Hatijah
Ayob said the society had organised a rare disease exhibition at UMMC's foyer
since Feb 2 and lasting till Friday in support Rare Disease Day 2010 and to
create public awareness.

The father of one such patient, Abdul Khahar Saprani said his son Nawal
Alwani, seven, was diagnosed with "aniridia" (absence of rods in the retina)
which could not be detected when Nawal was born.

Nawal, who had to don glasses since the age of two, has only 6/18 vision and
cannot overexpose his eyes to direct sunlight.

Abdul Khahar added that although the doctors were as yet unable say what the
long term effects would be, he and his wife brought the boy for regular medical
checks.


For Allida Mohd Said, her son Amir Hamzah Fadil Hassan, 10, suffers
"achondroplasia" (dwarfism) which was detected during pregnancy via a scan.

Though categorised as a disabled person, Allida said Amir Hamzah was a very
active boy both in sports and studies at his school.

On "normal" people's reaction to her son's condition, Allida, an engineer,
said she adopted a positive attitude and would explain to them about the rare
disorder afflicting her boy.


-- BERNAMA