If you were asked to change an aspect in your life to make it the best there is, would changing your “genes” even be an option? I guess majority wouldn’t even think about it. Well, we all know genes are irreplaceable and can’t be fixed for that matter. Thus changing it would be a mere fantasy. However, I wonder what would the family members and individuals with rare disorders, such as Down syndrome and Huntington’s disease, give to have that opportunity? Some would probably trade all their fortune just to live a life with nothing to worry about, not the thought of losing all control of one’s self as they get older, nor the thought and hardships of being “not” normal.
Our genes are like the most fragile component of our system. They are the basic physical and functional units of heredity. They are a set of instructions like little codes that makes us who we are. A single defect in our genes may cause a major setback, which includes an array of genetic disorders. These genetic disorders range from the most common, such as the Down syndrome, to the rarest disorder ever noted in history. Curing disorders such as these would be like bending steel with our bare hands– simply impossible. Or atleast for the near future. If there is hope for these disorders, it would most probably come from prevention and not cure. Preventing it is a different yet relatively achievable type of struggle. There’s a plethora of ways to help in the cause for prevention. One of such is seeking genetic services at an advanced timing, such as congenital screening sought after by parents. Luckily, in the Philippines, we have the Institute of Human Genetics (IHG) of the University of the Philippines that will be able to address such matters.
The Institute of Human Genetics was established as one of the component institutes of the National Institute of Health (NIH) back in the year 1999. They are generally the largest provider of genetic services in the country as of this moment. This institution houses a lot of units such as the clinical genetics unit, cytogenetics unit, molecular genetics unit, and biochemical genetics unit which are of great importance. The clinical genetics unit is the friendly department that provides comprehensive clinical services to families and individuals with or at risk of inherited diseases. They act as the psychiatrists of the institution who offer genetic counselling and necessary information to allow the individuals the widest possible choice of options when making the decisions related to their respective genetic risk, of course taking into consideration the available resources. On the other hand, the Cytogenetic unit is the typical laboratory setting that includes routine karyotyping of different samples for patients with multiple birth defects, mental retardation, malignancies, hematologic disorders and a lot more. This is the unit that validates the DNA inside us, probably the scariest unit of this institution. Meanwhile, the molecular genetics unit is the one that conducts the researches in cooperation with both local and international clinical scientists. Lastly, the biochemical genetics unit is the one that offers the expert diagnosis for metabolic inherited disorder, which also provides consultation services with the clinicians.
The burden of genetic disorders in the Philippines
This institution is supported and funded by the government. However, delivering genetic services still remains as challenging as ever. We all know for a fact that genetic disorders are way behind the list of the most deadly diseases. Because of this, there is only a limited attention given to them although our very own Department of Health tags congenital anomalies as one of the top ten causes of infant mortality way back in 2006.
Though these disorders are not the top-priority of our health sector, we still couldn’t put all the blame on them, right? Think about the resources we have, the human resources for that matter. Lacking in the work force would be an understatement. As of now, the ratio of doctors to patients is 1:33,000 while the ratio of medical geneticists to population is 1:11,751,625 representing only 9 geneticists in the country who are in Luzon and one each in the Visayas and the Mindanao. The small number of geneticists is brought about by the unpopularity of Clinical Genetics as a profession at this time. Others would think of it as impractical and that typical “you’ll end up teaching” kind of mentality. This thinking is absurd, but to some it’s the reality we all don’t want to hear.
You can believe anything you want, but Professor Mercy Laurino, a certified and licensed genetic counselor dreamt a bigger purpose. For several years, she collaborated with the medical geneticists in the Philippines that led to the successful launch of the master’s degree program in genetic counseling at the University of the Philippines Manila in 2011. This is her way of making a remarkable contribution to her hometown. In her blog, she tagged this success as a dream fulfilled. Despite of the rough road she’s been through, she was always inspired by the passage of W.H. Murray’s in The Scottish Himalayan Expedition saying –
“Until one is committed there is hesitancy, the chance to draw back, always ineffectiveness. Concerning all acts of initiative (and creation), there is one elementary truth the ignorance of which kills countless ideas and splendid plans: that the moment one definitely commits oneself, then Providence moves too.”
There’s definitely no question in her level of dedication and perseverance to serve the Filipinos. This program, hopefully, will increase the number of geneticists in our country and will in turn improve the services offered.
Although the lack of human resources is a big hurdle for the genetics services, other barriers include financial and geographical burdens. We all know that the Philippines is an archipelago with 7,107 islands, and having only the Philippine General hospital that offers comprehensive genetic services in the country, accessing such services is difficult especially for rural based patients. Other than this, money is also a problem. These tests alone are expensive for financially stable families, how much more to those belonging from the middle and low income families. Aside from the fact that these tests alone will cost you a fortune, the treatment for these different disorders are also expensive, most especially if they require a lifetime of medical maintenance. Although there are tests that are covered by the PhilHealth such as newborn screening, which screens a newborn for a select number of metabolic conditions, treatment of the suspected disorder is a different story.
Need any help?
Hospitals usually recommend a non profit organization which might be of good help. Ever heard of Down Syndrome Association of the Philippines, Inc. (DSAPI)? Well, this is a non-stock, non-profit organization, established way back in 1992 by a group of parents and physicians that offers support to families who have a child with Down syndrome. Believe it or not, more than 100,000 families in the country are living with a child suffering from Down syndrome. Most people would think that having a child or a sibling with this disease is too much of a burden, some would even resort to abandoning them. Well, efforts are really needed, that is why this organization offers counseling to parents and support them in various ways. In fact, the month of February was declared as the “National Down Syndrome Consciousness Month” to raise awareness, promote the DASPI and recognize support from different organizations as well.
Another non-profit organization that helps individuals with genetic disorders is the Philippine Society for Orphan Disorder (PSOD). This organization advocates to sustain a better quality of life for the individuals with orphan or rare disorders. Their goal is not just to raise awareness about rare disorders here in the Philippines but they vow to act upon it. As of now, they are lobbying for the passage of the Rare Disease Act, which, if approved, will help ensure the early diagnosis and treatment of rare diseases in the country.
As a youth, you may think that you are of no help to these people. You may think that these jobs are for the adult. Since you are still in your teen years, you are still a work in progress. However, the VYLH or the Volunteer Youth Leaders for Health says otherwise. This organization aims to engage youth leaders and youth organizations in schools and communities across the country to increase the public awareness of existing health programs. Though they promote health in general, they also focus on raising awareness towards folic acid supplementation in the prevention of birth defects, as well as promoting newborn screening. They also support the Rare Disease Act just like PSOD.
These organizations, mentioned above, are more than just heroes to patients with genetic disorders. Although, to some with the worst cases, they can never change what they are and most especially, they cannot change the genes that they have. Their survival chance is probably numbered and hope is just a mere word for them. Well, we can never know how these people feel, but a little support and kindness is what they need just like what Mark Twain’s famous quote says-
“Kindness is a language which the deaf and blind can read.”
Indeed, we are blessed to have genetic services available for the Filipinos in need today. It uses advanced technology and is catered by able and willing health practitioners. We have geneticists and genetic counselors who extend their means, though only a few number. Nonetheless, it is safe to say that we have a better situation compared to other countries. But this doesn’t and shouldn’t stop here. Having these institutions that can reach very limited portions of our population mean that we are greatly in need of integration of genetic healthcare services in our public health system. Collaboration among the government, private sectors and local institutions is needed for the future of medical genetics, so that services could reach a wider scope and even help more Filipinos to have a greater fighting chance.
Author: Marie Isabella Labatos