Coping with a Rare Disease


IMAGINE: long queues, going to the hospital more often for a series of tests and not being able to figure out what is wrong with your child? Despite the physical, emotional and financial strain for most parents, the will power never stops. Until finally, the waiting is over: your child is afflicted with a rare disease.
According to www.orpha.net, rare diseases are diseases that affect a small number of people compared to the general population and specific issues are raised in relation to their rarity. In the Philippines, a disease or disorder is considered rare when it affects one in 20,000 individuals or less, as defined by the Institute of Human Genetics of the National Institutes of Health, University of the Philippines Manila.
From the list of rare diseases, there is an inherited disorder in which the body is unable to process certain amino acids properly called the Maple Syrup Urine Disease (MSUD). It derived its name from the distinctive/unique sweet odor of infant’s urine, characterized by poor appetite, vomiting, lack of energy (lethargy), seizures and developmental delay.
MSUD is inherited in an autosomal recessive pattern (one of several ways in which a disease can be passed down through families), where the child inherits a defective copy of the gene from each parent. If both parents carry the MSUD gene, each of their children has one in four chances of getting the disorder, and one in two chances of being a carrier.
The website, www.ghr.nlm.nih.gov cites that the most common and severe form of MSUD is the Classic type which becomes apparent soon after birth, while the Variant type is milder which becomes apparent during infancy or adulthood but still involves developmental delays and other health problems, if untreated.
Unlike any other rare diseases, MSUD may be detected early on through newborn screening (NBS) test. Last year, the Department of Health brought optimism to-soon-to-be parents when they modified its procedure for the collection of blood samples for NBS to include MSUD through Department Memorandum No. 2014-0200.
The NBS in the country currently includes MSUD and other five disorders specifically, congenital hypothyroidism (CH); congenital adrenal hyperplasia (CAH); galactosemia (GAL); phenylketonuria (PKU); and glucose-6- phosphate-dehydrogenase (G6PD) deficiency.
With the inclusion of MSUD in the NBS test by the DOH, PhilHealth has also included the said disorder in the list of five other diseases that a newborn will be tested for under its Newborn Care Package. PhilHealth’s benefit package for NCP is P1,750, wherein P550 is for NBS alone.
Aside from the NBS, NCP covers newborn hearing test and various essential newborn services like the immediate drying of the newborn; early skin-to-skin contact; cord clamping; BCG vaccination; and eye prophylaxis.
All dependents of PhilHealth members can avail of the package in PhilHealth-accredited hospitals, and non-hospital facilities such as lying-in clinics, birthing homes and Rural Health Units that are DOH-certified newborn screening facilities.
The government’s initial step to provide medical support and attention to MSUD will surely bring awareness and understanding to the public, especially for those caring for children that are afflicted with the disease.
For parents, seeing their own child suffer due to their financial incapacity to access medical care narrows their child’s fighting chance to live. It is an incomparable feeling and is definitely rare.
This Maple syrup is not sweet, after all. (Michelle S. Nisperos)

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