Excerpts from Autobiography, The Chrysanthemum Paper by Theodore Alvarez Tan

CAPIZ.  Tales of the supernatural are as legendary as the province itself.  Situated in the Island of Panay in the Western Visayas region some 500 kilometers south of Manila, this Ilonggo-speaking country is made known nationally as hotbed for Aswangs, the most famous nocturnal creatures of the dark side.  Just mention of the word Capiz can send chilling images of tales about coven and witchcraft which are favored pastime stories of Filipino families at their after-dinner gatherings.  How this  legend began certainly did not originate without some historical insights.  

Historians which chronicled the 17th century Spanish colonizers noted Aswangs as the most feared of all nocturnal creatures.  The Spaniards’ irrational fear of the unknown emerged from an actual incident in Capiz in 1859. Two pursuing platoons of Spanish soldiers were dispatched to the hinterlands to track down a band of rogue women who abducted a Spanish friar.  The soldiers who survived the encounter gave a gory account of flesh-eating women who drained blood and carved out their men’s livers and hearts.  The friar had his entire viscera removed and his head put on a stake.  The incident cited originated from an old Kinaray-a transcription of a politically motivated band of the spiritualist women known as Babaylan, seeking vengeance for the abuses committed by the Spanish friars.  The event nevertheless sowed fear and terror, so revolting, to the public psyche, that it eventually gave birth to the Capiz Aswang myth.  Added to this, so the legend goes, Capizenos were also known then to adorn their homes with garlic bulbs, holy water and religious objects.   

Numerous depictions of how this supernatural creature looks like have been embellished over time by media, in text books, radio and serialized comics and its fixed manifestations and activities are a little difficult since they have been characterized differently from region to region.  Nonetheless common appearances that distinguish them from other mythological creatures do emerge. Aswangs are ordinary, simple folks that co-inhabit with ordinary townspeople.  They are quiet, shy and evasive.  By nightfall, they transform themselves into dogs, cats, birds, pigs, and take on human form of a grotesque hag with unkempt hair and extended fingernails or a deformed witch (mananangals) capable of cutting off its torso and leaving the lower part aground while the upper part grows a pair of bat-like wings and flies into the night looking for its prey.  Like chameleons they hide themselves behind bamboo posts and prey on their victims while they sleep. They are lightning fast and elusive and can enter thinnest slots in between windows and doors without being spotted. Some are believed to have long proboscises which to suck infants out of their mother’ wombs, their most prized prey.

Casting salt at aswangs is said to cause their skin to burn. This belief may stem from the purifying powers attributed to salt crystals by traditional witchcraft.  Another way of dealing with Aswangs is to keep a red pouch full of ginger and old coins.  The ginger keeps them away while the coins prevent them from lifting a person up.  One sure way of testing if the person next to you is Aswang or not, invite him to share a mirror with you.  If you find yourself alone in the mirror, run! 

Long before the advent of modern medicines and science, Aswang serves to explain miscarriages and other maladies among the old folks in rural and city areas.  Filipino mothers tell their children Aswang stories to keep them home at night.  As paranormal stories excite the public’s fantasy, comics radio programs and movies begin selling tales of Aswangs especially depicting missing children, grave robberies, strange noises, people with eccentric behavior or peculiar habits.

Debunking the Capiz myth

In 1975, Drs. Lillian Villaruz-Lee, the first Filipina Child Neurologist and erstwhile hospital directress of the Philippine Children’s Hospital in Quezon City and George Viterbo, a distinguished heart surgeon from Roxas City, Capiz generated global attention when they discovered the existence of a severe and progressive movement disorder called XDP, a form of Parkinsons with dystonic features. Likewise in 1978, an independent study by the Roxas Memorial Provincial Hospital, points to a physical aberration that is believed to explain the aswang myth and the reason why the province of Capiz is singled out in the folklores.  The disease in focus is Dystonia – a neurological movement disorder characterized by uncontrollable tremors or shaking of the limbs, tongue tremor, excessive salivation and difficulty in speaking due to the muscle contraction in all parts of the body.[8] Since this form of dystonia has certain manifestation that mimics Parkinson’s disease, it was eventually known as Parkinson’s Dystonia.

When a person has a fit, he salivates and spins like a top, extends his tongue,  much like being possessed by demons.   The victims usually hide their predicament from their neighbors out of shame and embarrassment.  They avoid going out of their houses during daytime because they misconstrue their condition as a curse from God.  They only come out at night when people are usually inside their homes. With poor visibility at night coupled with the general fear of the unknown, their neighbors oftentimes confuse them as malevolent creatures from the dark side. Thus the Capiz aswang myth is born. [9]

Research Team of Dr. Lilian Villaruz-Lee focuses on XDP [10]

In the study of the disease by the research team of Dr. Lee, the XDP (or DYT3 as it is now officially classified in the genetic catalog of dystonias) is discovered to be endemic in the provinces of Iloilo, Aklan, Antique and Capiz which comprise the island of Panay. The prevalence of XDP in Panay is 5.24 per 100,000; 0.34/100,000 in the general population. The pervasiveness varies in the different provinces; it being highest in Capiz at 18.88/100,000, 7.46/100,000 in Aklan, 1.28 in Iloilo and 0.83 in Antique. [11] Please note that Capiz and Aklan are one and the same province before legislation restores the latter to its original status in April 26, 1956 as the oldest province in the Philippines.  Out of the 376 cases which are recorded since 1975 to 2001 from 188 families, a high of 92% have positive family history.  Out of these samplings: 99% of the cases are males; the mean age of onset is 39.48 years; and the average duration of illness is 12.95 years; 94% initially manifest the disease with dystonic symptoms, while only 6% with Parkinsonian traits. [12]

These general demographics are based on reported cases from hospital wards, health centers or through word-of-mouth survey.  It is also reported that hundreds of the afflicted come from indigent families, mostly farmers, fishermen and coconut growers who can ill-afford proper medical care, therefore, their cases go unreported.  And if they report their cases, chances are their attending doctor may not be familiar with the  fundamentals of XDP and usually their cases are mistaken as typical cerebral palsy or other nerve disorders such as Parkinsons disease or multiple sclerosis. However these figures do not account for respondents that have already moved residences or have migrated to other countries such as the case of Dr. Jesus Villanueva, a reputable physician based in Philadelphia.  A general surgery residents at De La Salle University Medical and Philippine General Hospital and a fellow of the Philippine College of Surgeon, he completed his internal medicine residency at Fritzgerald Mercy Catholic Medical Center in Philadelphia and was board certified in internal medicine in the U.S.  He practiced medicine for eight years in the US before XDP claimed him at the age of 37. [13]

Dubbed as the Panay Dystonia, or lubag in the native tongue (as in lubagon, meaning musically out of sync), the XDP cases are expected to quadruple to hundreds of thousands in the next 20 years as inter-marriages with the carriers or the afflicted go unabated for lack of information on how to control this genetic disorder.  Dr. Lee has devoted her life setting up research on XDP.  She fears that unless the  government finds a way to systematize an information campaign that will eventually lead to effective pre- screening of inter-marriages among the affected, the social, psychological and economic consequence from this genetic disorder can be devastating to Filipino children in generations to come.

Dr. Lee continues to travel around the globe seeking grants to find answers to this enigmatic aberration that has already wrought havoc in the lives of thousands of Filipinos.  Because of the lack of recognition on the very existence of XDP, people which have history of the disease are simply not put through the grind in reporting such cases. It is lamentable that no funding from the government has been made available to the study of Dr. Lee to enable her and her team keep track on the effects of the mutation among the general Filipino population.

This author has found out lately that Genetic testing is already made available to Filipinos through the services offered at University of the Philippines – National Institutes of Health (UP-NIH). (Please refer to my 4th postings – Genetic Counseling: A Profession on the Verge of Being Discovered).  If the reports are true, the clinical data that can be derived from these testings will be an extremely enviable source  in the diagnosis and management of patients with XDP and other genetic disorders.  Also a private organization initiated by Dr. Virgilio Evidente of Mayo Clinic and Dr. Jesus Villanueva have set up a foundation which aims to establish cheap and affordable ways of genetic testing in the Philippines. This is currently being worked on in collaboration with the research division of St. Luke’s Medical Center in Quezon City.  Vil-Del, a Philippine company, has agreed to fund the initial start-up costs of the foundation. The U.S. based Dystonia Foundation has also indicated that it will partner with the foundation by providing administrative and research support initiatives. [14]

Dystonia and my family

My grandfather Calixto Alvarez died in 1963 with Parkinsonian dystonia although the case of the Patriarch was more exhibited as Parkinsonian than Dystonia.  Now, it has become apparent to the entire clan that our family line has been compromised after three deaths in the family are linked directly to XDP.  Males with XDP in the likes of Calixto pass this disease-causing mutation to all their daughters but surprisingly none to their sons.

From the genetic study done specifically on the family line of Calixto, it was reported that all my aunts, including mother “have a 50% chance of transmitting the mutation via each pregnancy: their sons who inherit the mutations are probably affected; and their daughters who inherit the same mutations are never affected.” [15] “If any of their affected sons bear male offspring, none of the offspring will be affected.  However,  if the same sons bear female offspring, chances are that female offspring will be a carrier.” [16]  I call this the black cycle because the mutation is perpetrated and the chain of the mutation is once again perpetuated.

My aunt Fidela, the eldest in the family of 5 boys and 4 girls, was the first to report of  XDP mutation within the clan.  Her only son, Serge Mendoza, Jr. suffered the worst case of XDP.  His affliction included intermittent twisting movements, muscular contortions and massive torso convulsions.  He endured 11 agonizing years of disability before death finally claimed him in March 2002.  A brilliant chemical engineer who was instrumental in the successful formulation of the industrial-grade PVC pipes used to replace all PLDT underground telephone lines in the greater Manila area, Serge Jr. became one of the country’s top 10 most outstanding salesmen of 1971 because of the PLDT project.  He passed away penniless after spending his entire fortune trying to stave off his dreadful malady.

My mother Fidelina has four sons and 2 daughters.  His eldest, Jules, passed away in April 2009 after being bed-ridden with XDP for almost 10 years.  Like our grandfather Calixto, his plight was a milder case of dystonia and more of Parkinsonian.  But unlike his cousin Serge who bore two daughters who in turn are potentially dystonia carriers, Jules, on the other hand, was more fortunate he begat six sons with no daughter.  Since there he did not bear any carrier the XDP was stopped dead at its track.

I am Fidelina’s next son and the fourth in the clan to fall victim to this terrible affliction.  I hardly noticed I had traits of XDP until a friend told me I was losing steam in my movement and gait.  One day, as my wife and I were reviewing the tapes of our mountain ascent in Nepal, I was taken aback to see the lack of vigor in my gait much like walking underwater.  I was 49 then.  It would take another 7 years after that first awareness before the disease eventually manifested as involuntary tremors on my right hand.  It was followed by my extreme difficulty in finding my normal gait in crowded places like malls, theaters and churches.  Unconsciously, I started to shuffle my steps and needed a moment or two to establish my bearings before I could continue to walk.  What terrified me some months later was when numbness started to develop from the toes of my feet to the heels and around the ankles, gradually becoming more prominent as months progressed.  It began to irritate me especially when I retired at night.  The numbness could last for hours.  The trick I used to stop numbness was a mere touch to any part of my feet or put them under a blanket and pushed all digits against it until a complete wall was formed.

By the year 2006, I was officially diagnosed to have Parkinson’s by a neurologist who probably did not know or heard of XDP or simply did not put two and two together.  If he knew that XDP was prevalent in Panay Island, my case history in his clinic would have given my symptoms away. Although the term XDP or Panay Dystonia was unknown to us then, it did not occur to the family that the same strain my grandfather had was from the same mutation that affected Serge, Jr., then my brother Jules and eventually, I.

In the next months or so, I lived a life of a Parkie until I had to go home to Capiz in 2007 to bury my father.  It was during the wake that Jules’ son, Joey, informed me about the works of Dr. Lee.  It was after a long conversation with him that I realized the frightening connection of my afflictions to the reality of XDP.  Dr. Lee, I was told, had been seeing my brother since she regularly flew to Capiz to monitor her “wards.”  I immediately sought her upon reaching Manila.  My first meeting with Dr. Lee answered more questions than I could muster.

My two grandsons, Lucas and Josh Tan-Garcia, in their home enjoying their favorite weekend pastime.

The most chilling realization that emerged in my study of XDP was the probability that my two grandsons, robust as they were, could also be affected by it.  My only child, Lora, who had married in October 2003, sired two healthy boys, Josh and Lucas.

One quiet Sunday morning, I thought I was reliving a déjà vu when my 5-year old Josh asked me, “Lolo, why do you walk funny?”  I could only smile for it was exactly the same question I had asked my grandfather Calixto when I was his age and too young to understand his affliction.

The Alvarez Clan.  From left to right -back row: Rosario Alvarez (married to Juanito Vega, childless), Ricardo Lauz, Leonardo Alvarez, (Tony, 2nd child of Rosario) Chin Po Yu-Tan, Jules Tan, Leopoldo Alvarez, (Edwin, the 1st child of Maria), Serge Mendoza, Jr (2nd child of Fidela Alvarez-Mendoza), Sergio Mendoza, Sr., Oscar Alvarez, Willliam Alvarez, Gilda Alvarez (married to Jess Salgado – not in picture) middle row: Maria Eribal (married to Leopoldo Alvarez), (Romeo, the 2nd child of Maria), Lydia Alvarez (married to Ricardo Lauz, childless), Rosario del Rosario (married to Leonardo Alvarez), Ramon (3rd child of Rosario) Fidelina Alvarez (married to Chin Po Yu-Tan), Lola Sanang Asas-Alvarez, Lolo Calixto Alvarez, Fidela Alvarez (married to Sergio Mendoza, Sr.), Noemi Almosa (married to Oscar Alvarez, Emma (married to William Alvarez), Marian (1st child of Emma) Front row from left to right: Nellie (2nd child of Fidelina), Eugene (3rd child of Fidelina), Theodore (author and the 4th child of Fidelina), Myrna (1st child of Fidela).  (The X stands for confirmed XDP patients while the C stands for probable and identified carriers in the family) Taken at the Tan’s Residence in Roxas City, Capiz in December 27, 1955.

To be continued– (see Panay Dystonia Part-2)

Sources and credits:

  1. Scott, William Henry (1994). Barangay: Sixteenth Century Philippine Culture and Society. Quezon City: Ateneo de Manila University Press. ISBN 971-550-135-4
  2. Tan, Michael (2008-10-26). “Aswang, Aswang!”. Sunday Inquirer Magazine
  3. Ibid
  4. Cruz, Neal (2008-10-31). “As I See It: Philippine Mythological Creatures.” Philippine Daily Inquirer
  5. Eugenio, Damiana (2002). Philippine Folk Literature: The Legends. Quezon City: University of the Philippines Press. pp. 490. ISBN 971-542-357-4.
  6. Ibid
  7. Curran, Bob; Ian Daniels (2005). Vampires: A field guide on the creatures that stalk the night. Career Press. pp. 37. ISBN 9711561480070. Retrieved 2009-05-08.
  8. Dystona – Of Health & Horror. Anthony R.  Retrieved 2010-12-12
  9. Ibid
  10. E.L. Munoz, Department of Pathology, Children’s Medical Center, Quezon Blvd., Quezon City. K.T. Tan, MRI Center, Cardinal Santos Medical Center, Greenhills, San Juan Metro Manila.  M. T. Reyes, College of Biochemistry, University of the Philippines, Taft Ave. Metro Manila.
  11. Dystonia Philippine Registry 2000 courtesy of the Journal of Clinical Pathology
  12. Ibid
  13. Chrysee Emilliano (Business World) on Drs. Jesus Villanueva and Virgilio Evidente.
  14. Ibid
  15. X-Linked Dystonia Parkinsonism by Virgilio Gerald Evidente, Associate Professor of Nuerology, Mayo Clinic College of Medicine, Scottsdale, AZ.
  16. Ibid

Additional reading:

  • Maxima (1971). Creatures of Philippine Lower Mythology. Quezon City: University of the Philippines Press. ISBN 9710606813.
  • Ocampo, Ambeth (2010-02-16). “Looking Back: ‘Aswang’ and counter-insurgency”. Philippine Daily Inquirer

In April 7, 2004, the Philippine Congress passed into law Republic Act. 9288 known as the Newborn Screening Act of 2004. The Act itself guarantees that every newborn Filipino has access to newborn screening for certain heritable conditions that can result in mental retardation, serious health complications or death if left undetected and untreated.

Furthermore, the Act ensures that parents recognize their responsibility in promoting their child’s right to health and full development, within the context of responsible parenthood, by protecting their child from preventable causes of disability and death through newborn screening. [1]

We cannot but laud the passing of this piece of legislation in consonance with “the policy of the State to protect and promote the right to health of its people, including the rights of children to survival and full and healthy development as normal individuals.” [2]

Equally laudable is the role of the Institute of Human Genetics of the University of the Philippines (IHG). It is through IHG that the establishment of genetic services and research have made major breakthroughs which led to early diagnosis and treatment of infants with serious inherited condition and genetic problems.

The Newborn Screening Project of IHG became the basis of various administrative orders critical to the national implementation of newborn screening that saw the eventual enactment of Republic Act 9288. [3]

It is also to the credit of IHG that genetic testing is now made available and accessible to Filipinos all over the country through genetic services offered at University of the Philippines – National Institutes of Health (UP-NIH). It has become an extremely valuable resource of clinical data which also has provided a well-integrated approach in the diagnosis and management of patients with genetic disorder. [4]

However, genetic testing can also raise complex ethical questions which often do not have clear and simple answers. For example, a couple may choose to have an abortion if testing has revealed severe fetal abnormalities. However, most if not all doctors do not perform abortions, especially if the pregnancy is past the third month. In addition, relatives and friends may oppose abortion, putting enormous pressure on the couple during a difficult time.

A couple may want an amniocentesis to determine the baby’s sex and may want to abort the pregnancy if the baby is not of the desired sex. Many genetic counselors feel this is morally wrong and some critics liken the practice to female genocide. Most genetics clinics will not perform testing solely for sex determination. However, the wishes of the couple may conflict with the counselor’s strongly held beliefs of non-directiveness and patient autonomy.

The Critical Role of a Genetic Counselor

This is where the critical role of a genetic counselor comes into play.  In 1975, the American Genetics Society adopted the following definition of genetic counseling: Genetic counseling is a communication process which deals with the human problems associated with the occurrence, or the risk of an occurrence, of a genetic disorder in the family. [5]

This process involves an attempt by one or more appropriately trained persons to help the individual or family to (1) comprehend the medical facts, including the diagnosis, probable course of the disorder, and the available management; (2) appreciate the way heredity contributes to the disorder, and the risk of recurrence in specified relatives; (3) understand the alternatives for dealing with the risk of occurrence; (4) choose the course of action which seems to them appropriate in view of their risk, their family goals, and their ethical and religious standards, to act in accordance with that decision; and (5) to make the best possible adjustment to the disorder in an affected family member and/or the risk of recurrence of that disorder.” [6]

Genetic counselors work as members of a healthcare team and act as a patient advocate and as a genetic resource to physicians. They provide information and support to families who have members with birth defects or genetic disorders, and those who may be at risk for a variety of inherited conditions.

Genetic counselors identify families at risk, investigate the problems present in the family, interpret information about the disorder, analyze inheritance patterns and risks of recurrence and review available testing options with the family.

A scientific journal published in 2007 said that genetic counseling as a profession is “on the verge of being discovered.”

UP offers the course

It was not until late last year that Philippines has started to offer a course of genetic counseling at the prestigious University of the Philippines.  Dr. Carmencita Padilla, head director of the University of the Philippines National Institutes of Health (UP – NIH) Institute of Human Genetics and Newborn Screening Research Center said the goal of offering the course was to train more genetic counselors in the country and to send them to the provinces, where genetic counseling is critically needed. [7]

2009 Master's Degree graduates from the Maryland University College of Medicine Genetic Counseling Program. Photo with permission from MU College of Medicine @2011

A lucrative career in genetic counseling can be had in countries that have recently discovered that genetic testing is primordial to the health of their citizenry.  A Counselor that practices his trade in California with only 2 to 3 years experience stands to earn a hefty $57,800 to $77,560.  He stands to gain 40% more if he finishes his masteral course in human genetics. [8]

What Happens During A Genetic Counseling Session? [9]

Some genetic counseling sessions are simple, and require only one visit. Other times, multiple sessions are needed to collect additional information, to keep the family updated or to deal with ongoing medical and/or psychosocial problems.

The first step in a genetic counseling session is to determine why the patient or family is seeking genetic counseling and to identify what information they wish to get out of the session. Usually only one or two family members attend a counseling session. Sometimes cousins, in-laws, siblings, and grandparents may come. For genetic counselors, the family is the patient, not just the person affected, or potentially affected, with a genetic disease.

The Mount Sinai Genetic Counseling Program is a 20-month, full-time course of study designed to train future genetic counselors through intensive coursework and a variety of clinical placements. Genetic counselors work as members of a health care team, providing information and support to those who have family members with a birth defect or genetic disorder and people who may be at risk for a variety of genetic conditions. Photo with permission from Mt. Sinai College of Medicine Copyright@ 2010

An accurate pedigree is an important part of genetic counseling. A genealogical record or chart is used to help make a diagnosis of a genetic disease, to determine a person’s risk of developing a genetic disease or to determine the risk of having a child with a genetic disease. At minimum, a pedigree includes first degree relatives (parents and siblings), second degree relatives (aunts and uncles) and third degree relatives (cousins and grandparents). The counselor may ask questions about more distant relatives like great-uncles or second cousins when necessary.

Besides depicting familial relationships, a pedigree also contains vital medical information like birth date, age of death, cause of death, health problems, and results of genetic tests. Obtaining medical records on affected relatives can ensure the medical information is accurate.

Sometimes, ancestral history reveals confidential information that is not necessarily known to all family members, such as which relatives have genetic diseases or may suggest non-paternity (when the husband is not the father of the baby). Insurance companies may use these informations to deny health or life insurance to a person at risk to develop a genetic disease. Therefore, extreme care must be taken to maintain confidentiality.

Once the pedigree is completed and verified, medical tests may be offered to some relatives. These tests may be specialized genetic tests, like a karyotype (chromosome study) or DNA analysis (to detect gene mutations). The tests may also be more general, such as an X-ray, ultrasound, urine analysis, skin biopsy, or physical examination. The cost of the medical testing is not always covered by insurance companies, making it difficult or impossible for some relatives to have a complete genetic evaluation.

After medical tests are completed and records are collected, the genetic counselor may be able to make a diagnosis, or just as importantly, determine that a person does not have or is not at risk for a genetic disease. The pedigree can also be used to estimate the risk relatives face to develop a genetic disease or have a child with a genetic disease.

During the last 30 years, the field of genetic counseling has expanded rapidly. Since the National Society of Genetic Counselors was formed in 1979 there are currently over 1300 members. There are now more than 20 graduate training programs for genetic counselors in the United States. The American Board of Genetic Counseling certifies training programs that grant masters degrees in genetic counseling. Graduates of these programs must also pass a certifying examination administered by the Board. Genetic counselors practice in a variety of settings, including hospitals, private offices, laboratories, federal and state government offices, universities, and research units. Patients seeking genetic counseling can be younger, elderly, male or female, pregnant or just thinking about starting a family, affected with a disease, at risk for a disease, or simply curious to learn about the role of genetics in their lives.

Aside from the Philippines, other countries thinking of establishing a Genetic Counseling program include Finland, India and China. Countries with existing Genetic Counseling program include USA, Canada, South Africa, United Kingdom, Cuba, The Netherlands, Australia, Israel, Taiwan, Norway, France, Kingdom of Saudi Arabia, and Spain.

Recent challenge for genetic counselors has been the development of predictive testing for adult-onset disorders including breast cancer and Alzheimer disease. With modern genetic technology, DNA testing can indicate the relative probability that some individuals will develop a genetic disease during the fourth or fifth decade of life. Keep in mind, thought, that predictive tests only determine the probability that someone will develop a genetic disease. They do not predict the actual future. Thus an individual with a 75% chance of developing a particular genetic disease may remain healthy throughout his or her life, while an individual with only 25% probability of disease development may succumb to the disease. In addition, for some diseases (e.g. Alzheimer disease) there are no cures or treatments available regardless of predictability. In situations such as these, the benefit of predictive testing remains open to debate.

Genetic counseling involves more than just communicating complex medical information to families. The biggest challenge of genetic counseling is helping families cope with the emotional, psychological, medical, social and economic consequences of genetic disease.

Patients can react in unexpected ways when they learn their genetic risk status. Some people take the information matter-of- factly. Others react with anger, shock, denial, grief, depression, confusion, and guilt. Treating and caring for people with genetic diseases can be expensive, yet some people may lose their jobs and health insurance because of their risk of developing a genetic disease. That’s why it’s utmost important for counselors to have these information kept in strict confidence.

As genetic research unearths new information and knowledge, so too will new ethical, medical, social and legal problems arise. Genetic counselors can meet these challenges, helping patients and their families to cope with the effects of genetic disease in their lives.



1) Republic Act 8299  Philippine Congress of April 7, 2004

2) ibid

3) UP Institute of Human Genetics: Making Waves in the Field of Genetics, published by The Philippine Council for Research and Development, Department of Science & Technology. September 10, 2010.

4) UP Institute of Health [University of the Philippines Institute of Human Genetics]

5) The American Society of Human Genetics, Mission/Vision , retrieved 01-29-11

6) The American Society of Human Genetics, Overviews, retrieved 01-29-11

7) Bulletin Today, March 7, 2009 by Madel Sabater

8) Salary and Benefits Report . http://www.payscale.com  Retrieved 02-08-11

9) Profound thanks to Robert Pesto, whose article on Genetic Counseling is contained mostly in this edition.

About 100 years ago the word “gene” was not yet part of the English language and scientists were just beginning to identify chromosomes under the microscope and did not yet fully comprehend the role that chromosomes played in heredity. Altogether, the concepts of heredity were nonexistent.

Of course, people then realized that there were diseases that already ran in families. For example, parents who have epilepsy, a common and chronic neurological disorder that is characterized by seizures, tend to have offspring with the same disorder. This familial pattern was recognized even in Biblical times in Matthew 17:15 “Lord, have mercy on my son, for he is an epileptic and he suffers terribly. For often he falls into the fire, and often into the water.”

Other diseases, including Hemophilia and Huntington’s disease, were also known to run in families 100 years ago, but the inheritance pattern of these diseases was not as obvious as with the pattern of sickle cell disease. However, despite the understanding that some diseases were passed on, the process by which healthy parents could transmit them to their children remained unclear.

The Birth of Genetics [1]

Gregor Mendel

In 1899, three European scientists re-discovered the work of Gregor Mendel, a previously little-known Austrian monk who had described some basic principles of genetics thirty years earlier. In 1905, W.C. Farrabee, an anthropologist at Yale University, published a study which described a family with brachydactyly, a dominant genetic disorder in which affected people have very short and stubby fingers. This was the first published scientific report of a genetic disease in humans in which the inheritance pattern was clearly identified and predictable- when a parent had the gene for brachydactyly, on average, half of his or her children also had brachydactyly.

Some scientists wanted to use this type of genetic knowledge to eliminate social problems like poverty and crime. Eugenics, the study of how to improve human qualities through directed breeding practices, was first described in the late 19th century by Francis Galton, a cousin of Charles Darwin. Eugenicists felt that traits like intelligence, criminal behavior, poverty, and artistic ability could be traced to simple dominant or recessive genes. By encouraging people with “good” traits to have more children and encouraging people with “bad” traits to have fewer or no children, eugenicists felt they could rid the world of many social problems.

Eugenics took root in many countries, particularly in the United States and Great Britain. The Eugenics Record Office in Cold Spring Harbor, New York and the Eugenics Education Society in London were formed to collect eugenic data about families and to educate the public about eugenics. Between 1907 and 1930, these organizations were world leaders in eugenics and were supported with money donated by wealthy families.

Eugenics reached an international level during the 1930’s as the dark cloud of Adolf Hitler and the Nazi party cast its shadow over Germany. Hitler and the Nazis tried to rid Germany of identifiable minorities including Jews, gypsies, and mentally incompetent people. The Nazis blamed these people, considered to be “genetically unpure,” for the social and economic problems which Germany faced following World War I. Some of the Nazi party’s eugenic ideas could be traced to the American and British eugenic movements.

With the rise and fall of the horrors of Nazi Germany, both the public and many scientists rejected mainstream eugenics. However, many scientists and physicians were still interested in using genetic information to help families understand the role the role that heredity plays in diseases and birth defects. As a result of this interest, the first medical genetics clinics opened in the United States in the mid-1940’s and early 1950’s.

What scientific genetic knowledge was available to medical geneticists at the time? Laboratory tests for genetic diseases were few and far between. Watson and Crick had not yet identified the structure of DNA and would not do so until 1954.  The correct number of human chromosomes (46) was not discovered until 1956 and the chromosomal basis of Down syndrome (an extra copy of chromosome 21) was not reported until 1958. Physicians working in the hereditary counseling clinics soon realized that even this limited genetic information could have profound social and psychological effects on patients as well as on parents and other relatives.

The Roots of Panay Dystonia

Until approximately 20 years ago dystonia was considered a rare and untreatable disorder.  Little was understood about its origin, causes and changes.  Subsequently, 13 dystonia genes have been mapped, and many of their etiological characteristics have been identified [2], thanks to the progress made by dedicated geneticists such as McClintock, Crick and Franklin.

One article mentioned a theory relating Ashkenazi Jews’ migration 800 generations ago from Europe to Malaysia and the Philippines. This group married with the native inhabitants of Panay Island. In the same article, it mentioned that one of the migrant Jews became ill and exhibited persistent contractions of muscles and continuous repetitive movement to the point of abnormal posture.It also mentioned that dystonia (DYT1) was endemic among Ashkenazi Jews having the females as carriers and males being affected. This is characteristic of an X-linked recessive disease.

In 1970, Risch and colleagues calculated that the original mutation known as (DYT1) was introduced into the Ashkenazi population approximately 350 years ago.  The founder mutation probably originated in Lithuania or Byelorussia.  Risch et al also argued that the high current prevalence of the disease in Ashkenazim was the result of the tremendous growth of this population during the eighteenth century. [3]   A Sephardic Jew is one that originated in the Iberian Peninsula, this includes Spain and Portugal. Even though Ashkenazi isn’t as popular as it once was, many non Ashkenazi’s are Sephardic Jews.

A more plausible theory is this: When the Philippines was colonized by Spain in the sixteenth century, Capiz became the second most important Spanish settlement in the Philippines. This happened when Spaniards, under the Miguel Lopez de Legaspi, entered Pan-ay, a town of Capiz, in 1569, marking the conquest of Panay.  Most Spanish settlers, some of Ashkenazi-descent Iberian and Basque origin inter-married the daughters of rajahs, datus and sultans (chieftains) to reinforce the colonization of the islands. This process of inter-marriages in all probabilities had bred an entirely new mutation known as Panay Dystonia or (DYT3).

How to Tell If Members of Your Family have it?

To assess the risk of dystonia to other family members accurately such as grandparents, uncles, aunties, cousins up to second degree, it is important to first obtain an appropriate history of neurological abnormalities or history of cognitive deficit, current symptoms of movement disorders on any of them.  Because of the variable expression of dystonia within a single family, the affected status of each individual must be thoroughly reviewed and a pedigree is needed.  This process is imperative once you suspect the presence of this kind of anomaly in your family.  I would also recommend a step-up investigation if you have grandparents or parents, uncles or aunties that have Parkinson’s related illnesses, or neurological aberration particularly if any of them have roots in the island of Panay.

To obtain the most accurate information on Dystonia, I have listed here  specific questions pertaining to the varied symptomatology of Panay Dystonia.  Affirmative responses do not indicate definitively the presence of dystonia but may seriously warrant further investigation.

Does your subject patient experience the following [4]:

  • Increased blinking or inability to keep eyes open, especially in bright lights
  • Feeling of sand in the eyes
  • Intermittent and frequent puckering of the mouth or lips
  • Involuntary chewing movements or tongue popping
  • Repetitive pulling up or down of the jaw
  • Abnormal movements of “tics” of the face or other parts of the body
  • Difficulty swallowing solids, liquids, or excessive salivating (drooling)
  • Frequent choking or coughing when eating
  • Stuttering
  • Tremulous voice, choking when talking, or any difficulty speaking
  • Running out of breath when speaking with a soft voice
  • Turning, tilting or shifting of the head in any direction
  • Shaking or jerking of the head
  • Lifting or pulling up or down of the shoulders
  • Stiffness or pain in the neck
  • Twisting of the body when lying, sitting, standing, or walking
  • Scoliosis or abnormal deviation of the spine
  • Tremors of the hands or feet
  • Arms or legs twist or move involuntarily when using the hands or walking
  • Difficulty with grasping, writing or drawing
  • History of clumsiness
  • Cramps or painful muscles at rest or with the use of the arms or legs
  • Toes go up or down involuntarily
  • “Pigeon-toed”
  • Slow runner or slower on physical activities than others
  • Clubfoot or a foot that turns inward.


GENETIC COUNSELING: How to deal with the medical and psychosocial problems related to Dystonia



1.  Special acknowledgement to Robert G. Resta of Center for Perinatal Studies Swedish Medical Center. First Hill, Seattle, WA on his article Genetic Counseling: Coping Up with the Human Impact of Genetic Diseases

2.  Dystonia: Clinical Features, Etiology and Treatment by Mitchell F. Brin, Cynthia Comella, Joseph Jankovic,  SBN:  0-7817-4114-9.

3. Risch N. de Leon D., Ozelius I., et al. Genetic Analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 1995.9 152-159.)

4. Genetic Testing and Counseling by: Dana O. Deheny, Deborah de Leon & Deborah Raymond (Chapter 3 from the book Dystonia: Clinical Features, Etiology and Treatment) SBN:  0-7817-4114-9.

Excerpts from autobiography “The Chrysanthemum Paper” by Theodore Alvarez-Tan

As the condition of my health began to wane, I lost no time discussing my options with Dr. Lee.  With no cure on the horizon for Parkinson’s or Dystonia, the only available choices left are stem cell transplant and DBS (deep brain stimulation).  Although, stem cell transplant is by far still considered a long-shot affair, DBS, on the other hand, is evasive and therefore carries with it a certain amount of risk.  The procedure is to drill an opening in your skull and insert a tiny chip in your brain.  The chip much like a pacemaker is powered by a battery which they run a wire under your skin to your chest.  I cannot imagine myself facing the prospect of a surgery much more having my skull pried open. Moreover,  we have been hearing about the awesome promise of stem-cell research, about cells that might grow new hearts, rebuild wasted bodies, and lift suffering patients from the brink of death.

The Rigors of Stem Cells Transplant

After explaining to Dr. Lee that our options are open to stem cells, she recommends me to see Dr. Samuel Bernal, a world-renowned cancer-specialist who helps established Regenerative Medicine at Medical City.  He is a professor of medicine at UCLA and an assistant professor at Harvard Medical School. Dr. Sam Bernal is also a cancer survivor.  He thought he was dying that he applied what he discovered about regenerative medicine on himself.  Experiencing the astounding results of his works, Dr. Bernal became a major proponent of this innovative field in medicine.

I was awe-struck by my first meeting with Dr. Bernal.  As an adviser at Medical City, his bearing showed evidence of astuteness such as few men in his field possessed. His extensive knowledge on XDP, specifically on its genealogical aspects surprised me.  He emphasized that the critical success of my case is finding an ideal donor.  As a rule, my donor must be blood-related to avoid rejection but most importantly he must be unaffected by XDP mutation.

Once the donor is identified, stem cells are then collected through bone marrow aspiration.  The harvested cells are then sent to a specialized laboratory in Los Angeles “where they are primed and cultured to grow and respond to the corresponding maturation factors. “ [1] The next step, he says, “is activation where it introduces factors which prepare the cells to function in the specialized manner that they are intended.” [2] The process of sensitization is a step further  “where they train the cell to recognize the presence of certain molecules in the target area and perform the desired action.” [3]  The final step, Dr. Bernal explains, “is the introduction of the processed cells into the patient as repair agents.” [4]  “For patients needing regeneration like in the case of Parkinson’s, cells are injected intravenously and are honed in and work their way to repair the damage tissue in the brain.” [5]

Plotting for my family genetic history

Dr. Samuel Bernal, founder and head of Regenerative Medicine at Medical City (Photo courtesy of Philippine Daily Inquirer)

Dr. Bernal begins the process by assigning me the task of plotting my family’s genetic history – ideally, from both my grandfathers to all their offspring.  Dr. Bernal was, however, made aware that my paternal roots were a little difficult to trace all the way in China but I assured him that most if not all health-related issues are attributable only to my maternal side of the family – the Alvarez. Father died of old age at 98 with no history of diabetes, hypertension, heart, liver, lung problems.

From the records of information which we supplied Dr. Bernal, an interesting pedigree took shape about Calixto Alvarez, the patriarch that started it all.  He further elucidated that the disease-causing mutation that originated from the old man was passed on to all his daughters but none to his sons.  All my aunts including Mother were now identified as carriers and carried 50% chance of transmitting the mutation in each of their pregnancies; their male offspring which include us brothers and cousins who inherit the mutation will be affected; their females offspring who inherit the mutation will become carriers but rarely affected.

After the list of my family genealogy is completed, he begins to look into the profiles in the list of candidates starting from what is Class A (a perfect and untainted source). He remarked that if I had a son or if my father were alive, both subjects would have been the perfect donor under this category.  My only child, Lora, is off the list since she is genetically predisposed to carry the mutation of XDP in her genes. Class B are the sons of my male siblings who are generally considered free from the mutation.  From my eldest brother, Jules, alone I have abundance of potential donors, six to be exact, which sufficiently make up for my list of candidates to be screened.  The downside of taking this list indiscriminately is the prohibitive cost of inviting everyone undergo the screening protocol.  A protocol costs P10,000.00 for each candidate.  The evaluation is done by simple blood extraction which will determine within 5 working days the parity and/or aversion of the candidates’ genetic disposition to mine.

Finding the Right Donor

The evaluation of our pre-selected candidates almost took us three and a half months because time was needed to explain to our donors on the safety of the procedure.  Of the 11 candidates that participated, only Julien, age 37, the eldest among Jules’ siblings was evaluated to have the most perfect genetic compatibility with mine.   We were so pleased at the turn of event until a week before he was scheduled for a stem cell harvest, this nephew of mine withdrew from the program citing health concern. The unexpected set-back came as a serious blow to all of us.  The disbelief  was more pronounced among the assisting doctors and nurses at Medical City, most especially Dr. Bernal himself who took pride over this painstaking effort in my behalf as his first XDP patient to receive stem cell transplant. However, before our world started to fall apart, we received an uplifting news from a close family friend who wanted us meet to a doctor who had an interesting story to tell.

From Ukraine with Love

Dr. Jaime Jorge who is in his early 50’s is one of the country’s leading sex-reassignment and aesthetic surgeon.  He has been suffering from muscular dystrophy, a disease caused by a genetic mutation that prevents his body from making protein that protects his muscles. The best treatments available can alleviate some symptoms, but do little or nothing to lengthen one’s life.  It was not until he was a practicing surgeon that his affliction had gotten from bad to worst.  It hindered his mobility to the extent that he used crutches and could not drive anymore.  He was attending a convention in the U.S. when a colleague of his informed him about the world-acclaimed Dr. Alexander Smikodub, a leading Ukraine scientist who pioneered stem cell research and who helped reverse hundreds of cases of afflictions and disorders – from leukemia, dystrophy, spinal cord injuries, Parkinson’s to Alzheimer,  multiple sclerosis, lupus, etc.   He wrote him and then found solace from the response of Dr. Smikodub that his case was reversible.  “After transplantation of embryonic stem cells, patients show increase of muscular strength, improvement or even reappearance of lost reflexes, improvement of functions of internal organs and improvement of mental and physical activity,” the Ukraine doctor asserted. [6]  Dr. Jorge and his son immediately flew to the city of Kiev in the Ukraine and received a stem cell transplant.  Only weeks after the transplant, he realized that his perennial problem with diabetes got better.  After 7 months, he could walk better and could drive his car from his house to his office.  He said he was going back for a follow up treatment after 2 years.

"I am an executor of God's will." Professor Smikodub. (Photo courtesy of Emcell)

To differentiate between Dr. Bernal’s procedure and that of Dr. Smikodub’s is to see it from the point of view of the pathological point of supply by which these stem cells are gathered.  There are four sources of stem cells: embryo, aborted fetuses, umbilical cords and the patient’s own cells.  While Dr. Bernal admits harnessing only stem cells harvested from umbilical cords and from his patient’s own cells, I have discovered that with embryonic stem cells, being pluripotent that they are, I need not go through the painstaking effort of finding an ideal donor.  These embryonic stem cells are said to be so versatile because they can replicate in all cell types of the body and “can create apoptosis in the recipient’s cytotoxic cells, thereby, forming immunological tolerance.” [7]  “Since embryonic stem cells from a donor introduced into a patient can cause transplant rejection, nevertheless, this problem has been overcome by creating cell lines with generalized compatibility which have been perfected through genetic engineering”. [8]  The only issue that we see in embryonic stem cell is the moral controversy that has embroiled its use and benefits when it was first applied successfully to treat cancer in lab mice in 1981. [9]

Embryonic Stem Cells: The voice of conscience

Being devout Catholics, the issue about embryonic transplant procedure from aborted fetuses is a major hurdle.  The Church frowns upon any form of abortion.  Unlike the Philippines, Kiev practices legal abortion.   Before we wrote Dr. Smikodub, we met an Opus Dei priest who counseled us on the moral and ethical issues of what we were about to embark.  The church position is that it is not against stem cell research.  On the contrary, the Church applauds the advances made by science on stem cell research specifically on areas of adult stem cell studies.  However, the Church is very clear that it is against embryonic stem cell because on the basis of a biological analysis, “it threatens a living human embryo – from the moment of conception — which is already a human being with a well defined identity, which from a certain point begins its own coordinated, continuous and gradual development, such that at no later stage can it be considered a simple mass of cells.” [10]

“No end is believed to be good, such as the use of the embryos for the preparation of other differentiated cells to be used in what look to be promising therapeutic procedures, can justify an intervention of this kind. A good end does not make right an action which in itself is wrong.” [11]   We responded by presenting an argument: what if the stems cell could be harvested not from a self-induced abortion but from natural-induced abortion (miscarriages or stillborn)? Then could it be said that we put to good use this embryonic tissue instead of discarding it like “a simple mass of cells.” That’s equivalent to some form of supreme sacrifice of one human being to save another.  The priest does not categorically say that our enterprise is morally and ethically wrong or right. He then puts our struggle to rest by quoting Mahatma Gandhi: “The human voice can never reach the distance that is covered by the still small voice of conscience.”

On October 16, 2008, my wife wrote an email to Alexander Smikodub:

Dr. Smikodub,

We read your explanation addressed to Dr. Jorge regarding the source of the embryo, that you get them as cadavers and that they both come from natural and artificial abortions.

This is our dilemma.  It’s a moral one.  Our religion prohibits artificial contraception and abortions done without a valid medical reason. Abortions done to avoid unwanted pregnancy are not allowed. Any cadaver coming from an artificial abortion cannot be used in any way.  We hope you understand.

It is important to us that the source of the cadaver embryo is from  natural abortion or from a spontaneous miscarriage.  This is the only way we can undertake this transplantation.

We ask for your utmost understanding in this matter.  For us, the procedure is as important as the source.  The means by which the stem cell is sourced is as important as the result.

We are excited about what stem cell can do and we thank you in advance for the marvelous work that you do to heal people..

Thank you very much.

Ma. Luisa Tan

Two weeks Dr. Smikodub finally responded through our friend Dr. Jorge saying that their clinic were “successful in isolating a cadaverous tissue from a stillborn embryo ready for implant to Mr.  Tan.”  Then he added. “ We also received the medical records of Mr. Tan and his condition is rather advanced. It is difficult to imagine how he is going to handle the flight from Philippines to Kiev (10 000 km).  In this case, we are dealing with deep leukocyte-infiltrated lesions in some parts of Mr. Tan’s central nervous system.  We will try to treat infiltration, which might result in certain regeneration. Usual improvements in such patients are as follows: decreased rigidity; improved effectiveness of medicines taken for the main disease; more strength; increased range of motions.”

Travelling to Kiev: Plunging into Uncertainty

Street view on the Eastern section of the city of Kiev. Photo courtesy of Ukaraine Tourism Bureau

On November 26, 2008, my wife and I flew to one of the oldest countries in Europe, braving the freezing weather of Ukraine at 10 degrees below zero.  Kiev undeniably offered the beauty of the Carpathian Mountains, the Dnieper River, and sights and architectural landmarks throughout Sevastopol, Kiev, and nearby Yalta.   We were also plunging blindly into a world, charged up by what we read over the Internet and by the hyperbole of stem-cell advocates, where the potential cures of the future are made available today.

When the car that picked us from our hotel pulled up to EmCell, in a mostly residential section of Kiev, we were surprised that to see that the clinic was located in one of the city’s government hospitals.  The building looked old and abandoned.   Paints were peeling from the walls.  Thick streaks of grime covered the aqua-and-cream colored exterior.  At a battered blue steel door, we were met by a man in a white suit who helped the driver push my wheel-chair into a dimly lit building.   Inside the hallway, metal stretchers with legs were aligned at one corner.  We followed the man around a corner and onto a slow, creaky elevator that seemed to have taken us all eternity to reach our destination.

We then stepped out on the seventh floor and felt we had arrived at another place entirely. The clinic was clean and well lit. In the waiting room there were flowers and an Iranian rug hanging from one wall. They offered us tea and cookies, on saucers with doilies.

We were greeted by the clinic’s founder and director, Dr. Alexander Smikodub, who told us that the “embryonic stem-cell” treatment would help me– perhaps a great deal — but that it would not cure me.

A typical patient room at the Emcell clinic. Photo courtesy of Emcell.

Over three days of treatment, for several hours each day, I lay on a bed with bright white sheets, and the nurses treated me with great gentleness. On the first day, I received injections of a liquid suspension in my arm. I was told to have a complete bed rest after the treatment.  On two other days, I received subcutaneous injections in my abdomen. On the third day of my treatment, I was able to walk further than the usual without struggling.  And my wife said there was something about me that looked different like I was glowing.

When we returned home, I could think more clearly than before, an improvement Smikodub had told us to expect. I continued to feel this mental sharpness, but that the improved flexibility eventually wore off. Smikodub had also told us to expect this, that to feel the full benefits, I would have to wait from 3 months to about a year and then to come back for a second treatment.  The price of a second treatment was $10,000.

I cannot imagine what might be on the horizon for people like me whose financial assets are quite limited.  The struggle still boils down to having sufficient resources at a given command so decisions can be made anytime medical options are available.

It’s been about 2 years now since we made our trip to Kiev.  We never returned back because of my great disappointment over the lack of significant improvement with EmCell.  The other sad development which we discovered lately was the overcharging made by Emcell by more than $10,000.  We paid a total of $26,000 through Dr. Jorge for that treatment in November 2008.   A walk-in would have paid only $15,000 in 2003 as we discovered through EmCell’s website.   My wife and I took the words of Dr. Jorge and EmCell in good faith.

In a time of seeming medical miracles — when renowned cyclist Lance Armstrong could beat cancer and go on to win the Tour de France—I find it disturbing to be sitting around and not put a stop to this ravaging disease that will likely spread its mutation to our next generation of children and grandchildren.

From the stomp of Calixto Alvarez, it was through some fluke of fortunate circumstances that only 5 out of 10 children he sired, were males. First, out of 5 female sired by the Patriarch, two remained childless and the other had only only one boy in the family of 5 siblings. Secondly, our eldest had only sired six boys and no girls.  That alone has put the XDP strain in his line to its grave. The odds could have gone against our favor.  But it did not.

In the grand scheme of things, only 8 out of a 32 grandchildren have been identified as the affected ones. Unfortunately, out of the 8 affected, another 10 female carriers have been added.  It is lamentable that the mutation will continue to affect the male children of these female carriers.

It is frightening to be alone fighting this battle.  Every day of my waking hours as I sit at home, my strength is slowly being devoured not by the pain of my affliction but at the prospect in seeing my two grandchildren, Josh and Lucas, and my cousins and nephews undergo the same unpleasant and horrifying situation.


Sources and credits:

  1. Video Transcript of Dr. Sam Bernal on Regenerative Medicine, Medical City.
  2. 2. Ibid
  3. 3. Ibid
  4. 4. Ibid
  5. 5. Ibid
  6. EmCell Website.  Retrieved 2010-05-08.
  7. Embryonic Stem Cell (in Vivo) in Anti-aging treatment by Dr. Alexander Smikodub.
  8. Kim D, Kim CH, Moon JI, Chung YG, Chang MY, Han BS, Ko S, Yang E, Cha KY, Lanza R, Kim KS (27 May 2009). “Generation of Human induced Pluripotent Stem Cells by Direct Delivery of Reprogramming Protein.
  9. Chambers I, Colby D, Robertson M, et al. (2003). “Functional expression cloning of Nanog, a pluripotency sustaining factor in embryonic stem cells”. Cell 113 (5): 643–55.
  10. Catechism on Call: Catholic Position on Stem Cell. 2009-03-23. By Conway23
  11. Ibid