Macmac seemed to be a healthy baby boy when he was born. In fact, the only strange thing about him was walang odor o panghi ang ihi niya each time papapalitan ng parents niya ang kanyang diaper. But Macmac started to become irritable a few days after he was born. On his 10th day, he suddenly fell into a coma and eventually died. Sabi ng mga doktor, may Maple Syrup Urine Disease o MSUD pala si Macmac.
Hindi familiar ang MSUD sa maraming tao.
Isa pala itong genetic disorder which prevents the body from breaking down the amino acids leucine, isoleucine and valine, which remain in the body after eating proteins like meat, eggs, and milk. These amino acids are important in forming muscles, enzymes, and other proteins in the body.
Kapag hindi kasi na-break down ang mga amino acid na ito, pwedeng malason ang katawan at mauwi sa severe mental retardation o pagkamatay ng bata.
MSUD is usually managed through special diets. But it’s best addressed if it is discovered very early after a child’s birth.
Pwedeng ma-detect ang MSUD sa mga bagong panganak na sanggol through newborn screening (NBS).
Ginagawa ang newborn screening by getting a blood sample from the baby’s heel.
Simpleng turok lang ang ginagawa sa bata. A few drops of blood lang din ang kailangan na nilalagay sa isang special absorbent filter card na pinadadala agad sa lab for analysis.
These few drops of blood go a long way in determining if the child has a specific disease or will develop a disease as he or she grows up.
Kabilang sa mga sakit na ito ang:
- Phenylketoneuria (kawalan ng kakayahan ng katawan na i-break down ang phenylalanine)
- Congenital hypothyroidism (nagdudulot ng problema sa normal na paglaki ng katawan at paglago ng utak)
- Congenital adrenal hyperplasia (nagdudulot ng abnormal development ng primary sexual characteristics tulad ng ari at secondary sexual characteristics tulad ng buhok sa iba’t ibang bahagi ng katawan)
- Galactosemia (kawalan ng kakayahan ng katawan na gamitin o i-break down ang asukal na galactose)
- G6PD deficiency (nagdudulot ng pagkasira ng red blood cells at bagkus, anemia), at iba pa.
Sa ngayon, ginagawa ang NBS sa mga hospital, lying-in clinic, rural health unit, health center, at private clinics.
Parents are immediately informed if the child tests positive for any of the diseases so the child can be brought back to the hospital for further testing or disease management.
Although rare ang mga sakit na ito, some of them cause death without first manifesting any symptoms.
That is why the government ratified the Newborn Screening Act of 2004 to make sure that all those who are born in the country will be able to avail of NBS to arrest the progression of these genetic disorders.
Sa mahigit 2 million babies that went through NBS in December 2010, pinakamarami ang nakitaan ng G6PD deficiency. Because of NBS, more than 45,000 babies were saved from any complications and even death.
Pero, sa kabila ng newborn screening program ng Department of Health (DOH), nakalulusot pa rin ang sakit na MSUD sa ilang babies.
That is why the DOH has affirmed that the NBS protocol should be done in the soonest possible time. To determine kung may MSUD ang baby, a blood sample must be taken 24 hours after he or she is born.
Usually kasi, kinukuha yung blood sample 48 to 72 hours pa after birth. Sa ibang bansa, umaabot pa nga ito nang hanggang isang linggo.
Five hundred fifty pesos ang halaga ng NBS. But the good news is, covered ng PhilHealth ang test sa ilalim ng kanilang Newborn Care Package (http://www.philhealth.gov.ph/circulars/2011/circ15_2011.pdf) na nagkakahalaga ng P1,750.
Nasa ilalim ng National Institutes of Health, University of the Philippines Manila ang Newborn Screening program ng gobyerno. Para sa karagdagang impormasyon, puwede itong kontakin sa +63 2 526 4349 at +63 2 526 4266 Website: nih.upm.edu.ph Email: nih.mail@upm.edu.ph
