Fifty-year-old Amina Abdi is terribly unwell. Two years ago, she was diagnosed with diabetes type II. Ever since this diagnosis, Amina has been on insulin, specially controlled diet intake, and on physical exercise to manage the disease. Then a year later, the least expected happened. Abdi Quno, her 55-year-old husband was also diagnosed with the same condition.
And as if these parents of four children did not have their fair share of health problems, Hawo Abdi, their seven-year-old daughter tested positive of diabetes type I three months ago.
Medical experts at Kenyatta National Hospital (KNH) where the infant is receiving outpatient treatment warned the family that the disease in their child is likely to develop into diabetes type II in future if the condition is not managed well as the toddler grows up.
But what the couple does not know is that although there is a steady increase of diabetes and other chronic diseases in Kenya, the culture of their community quadrupled the risk of their exposure to developing this condition.
Abdi and Amina are of Somali ethnicity from Garissa County. Abdi tells The Nairobi Law Monthly that he is Amina’s first cousin. Their culture allows and, in many cases, encourages marriage between cousins.
He says, “In our culture there is nothing wrong with marriage between cousins. Even Islam, the religion that family and I profess does not forbid such a matrimonial union. I don’t see anything wrong with that either.”
But he says the disease that is ravaging his family is not such a stranger to them. His uncle, who is his father-in-law, died of complications arising from the same condition. Later, his mother also succumbed to health difficulties caused by Diabetes II. The two departed relatives were also distant cousins married to other cousins.
Although it is almost certain that this family’s health dilemma is a result of hereditary predisposition to the disease, to them, they do not understand that reproducing within the same blood line aggravates the danger of being affected. “This is Allah’s will. If He wills that we die, so be it. But we will continue following the doctor’s advice on how to manage the disease, first for my daughter, then my wife and finally myself, in that order,” he declares protectively.
All the same, Abdi is devastated by his daughter’s fate. Her having the disease is the least he expected. He has never heard of children suffering from diabetes and that worries him a lot.
Abdi is a textile trader in Eastleigh while his wife is a housewife.
Thus the management of the three cases of diabetes in the family is taking its toll on Abdi’s income.
Asked what she could have done if she were warned, before conceiving, that it was highly probable that the baby she was planning to have would have the disease so early Amina says, “I would not have conceived.”
And indeed the couple could have been spared half of their troubles if they had the service of a genetic counselor before their marriage or at least before they had baby Hawo.
With clinical genetics, it would have been possible to investigate the genetic tree of the family to establish with a decent degree of accuracy the chances of the Abdis to have children with or exposed to diabetes. Once this danger is identified, a genetic counselor would have advised them of risks their child thereof, would be exposed to. These investigations can be conducted on the parents before conception. The parents would therefore have made informed choices.
However, there are no genetic counselors in any Kenyan health institution because these important experts do not exist in the country, neither does any institution of higher learning in the country offer training in this discipline.
When we called Mr Simon Ithai, the head of communication at KNH, asking whether the hospital offers genetic counseling, he simply sent us a text message saying, “I don’t understand.” KNH is the largest referral hospital in East Africa.
For a month, a questionnaire sent to the head of department, Human Genetics at Kenyatta University remained unanswered. The university has the most elaborate programmes in the discipline of counseling in the country. It was the case with Moi University, which is the other key institution of higher learning which offers programmes in medical studies in Kenya.
Inquiries from medical practitioners revealed that there is only one qualified clinical geneticist in Kenya who is a senior manager at a prime private hospital.
Ms Merlyn Glass, a genetic counselor at University of Witwatersrand, South Africa says all of us have each 46 chromosomes in every cell of our bodies. Therefore at fertilization a female’s egg and a male’s sperm merge with each parent donating half of their chromosomes, so that the foetus receives a total of 46; that is 23 chromosomes from its mother and 23 from its dad.
“Chromosomes are made up of genes, which determine everything about us; colours of the hair, skin and the eye, functions of the lungs and heart, developments of the brain, bones, hormones enzymes…everything! But everyone has also at least an extra three or four faulty genes, which we don’t know about but we may also pass them on to our children.
Therefore if it is known that a parent has a family history of a certain disease, for example diabetes as in the case of Abdi and Amina, genetic testing can be offered to find out whether any or both spouses carry the specific faulty gene(s). If both carry the same faulty gene, then there would be a 25 percent chance for the baby to get a double dose of this faulty gene, and be affected with what is called a recessive (active) condition of the disease.
Scientific research has established an older mother is at higher risk of having a baby with a chromosomal abnormality like Down syndrome.
Indeed Hawo was conceived when her mother and dad were 43 and 48 years old respectively.
In genetics, marriage between cousins resulting in procreation such as the one between Amina and Abdi, says Ms Glass, is also referred to as consanguinity. This kind of union, she says, would not increase the rise of chronic diseases but exposes their children to higher risks of being affected.
She says consanguinity would particularly cause higher cases of inherited conditions like sickle cell anaemia and albinism.
“Genetic counseling would help couples in consanguineous marriages by first offering them testing for the common conditions in their particular community. If those being tested were found carriers of the suspected faulty genes, genetic counseling could offer mothers prenatal testing for their pregnancies,” she says.
She adds, “Genetic counselors are trained to support and guide these individuals in making choices regarding their planned procreation. It is preferable to test them prior to a pregnancy. They can offer testing either before one falls pregnant, or during pregnancy, depending on the condition, but most importantly depending on what the patient wants.”
All chronic diseases are inordinate candidates of hereditary conditions. But some are more likely to be passed on than others depending on individuals and other issues. Diseases that can be passed on familial lineage include cancers, hypertension, asthma and cystic fibrosis which is caused by lack of a protein that controls the balance of chloride in the body. The effect of this is breathing difficulties, recurrent lung infections and problems in digestion and in reproduction.
Both parents must be carriers of the faulty genes for a child to be affected where each child has 25 percent risk of being affected, thus making consanguinity a significant cause of rising incidences of this disease among Kenyans especially those from North Eastern and Coast regions where such marriages are common.
Down syndrome is usually immediately apparent at birth and is characterized by facial features, decreased muscle tone, heart and digestive system defects and developmental delay.
Fragile X syndrome is a hereditary condition which causes cognitive developmental challenge.
Another hereditary disorder is hemophilia which is a well known clotting disorder. In case of a cut, the patient’s blood fails to clot.
Children can also inherit disorders that result in an increase of blood fats which predispose the babies to obesity, glucose intolerance and diabetes, strokes and heart disease.
The inheritable Huntington’s disease causes certain nerve cells in the brain and central nervous system to degenerate causing uncontrolled movement, difficulty walking, loss of memory, speech and cognitive functions and difficulty in swallowing.
Muscular dystrophies are characterized by worsening muscle weakness and are inherited disorders.
The thalassemias are a group of inherited blood disorders where hemoglobin, the oxygen-carrying molecule, is not properly synthesized by the red blood cells. This results in an anemia.
Phenylketonuria (PKU) is the result of a lack of a liver enzyme that results in mental retardation, brain damage and seizures.
The list of hereditary diseases can be longer.
The World Health Organisation (WHO) defines genetic counseling as a communication process which deals with human problems associated with the occurrence or the risk of occurrence of a genetic disorder in a family.
It is a process through which knowledge about genetic aspects of illnesses is shared by trained professionals with those who are at an increased risk, have a heritable disorder or are at a risk of passing it on to their unborn offspring.
A genetic counselor, WHO states, provides information on the inheritance of illnesses and their recurrence risks. The service addresses concerns of patients, their families, and their healthcare providers and supports patients and their families dealing with these illnesses.
The first ever genetic counselling centre is the Heredity Clinic that was established in 1940 at the University of Michigan, USA. Since then many such centres have been opened around the world.
People who seek genetic counselors may have a disorder themselves and are therefore concerned about their family and vice versa.
On the other hand couples ask for this service if they have an affected child and they wish or plan another pregnancy, if they are planning their first pregnancy and wish to understand the child’s disease susceptibility of their future child or if they are planning a pregnancy late in life and want to assess any potential risks.
Globally, a qualified genetic counselor must have an Honours degree with a background in science, nursing or midwifery or have completed a Master’s degree in genetic counseling with a substantial clinical medicine component. In either case, the practitioner should have undergone counseling skills training of at least 90 hours duration. Genetic counselors seeking professional registration say in the UK, USA and SA are expected to have completed a two-year training covering this broad spectrum of genetic counseling.
A quick search on the internet shows that the minimum qualification to train in genetic counseling is a BSc (Hons) or BA (Hons) equivalent in Social Work, Psychology or Genetics.
The course extends over a minimum of two years in which the student will learn the principles and applications of medical genetics, together with the principles and practices of genetic counseling.
In an earlier interview, Dr Renson Mukhwana, a paediatric endocrinologist at Gertrude’s Children’s Hospital pointed out that genetic counseling could play a key role in reversing an upsurge of Disorder of Sexual Development (DSD) in children. DSD is a condition where children are born with ambiguous genitalia. Mukhana said besides other interferences with hormonal development of babies in their mothers’ wombs, genes play a major.
Thousands of people all over the world seek genetic counseling for a raft of reasons. You will benefit from genetic counseling if you or/and your partner have a condition which might be passed on to your children, have had a child or family member with a birth defect, developmental delay or a condition which may be genetic, are related to each other (eg cousins) and intend to have children and is a woman aged 35 years or over who is pregnant or planning a pregnancy and/or the spouse or partner is more than 40 years of age.
A lady will also gain from this invaluable service if she has had three or more miscarriages, has had ultrasound markers or fetal abnormalities detected in a pregnancy, has had a positive screening test in pregnancy such as the triple test or nuchal translucency screening and has been exposed to teratogens (like infections, prescription or illicit drugs, alcohol) during a pregnancy.
Others issues that should drive you to a genetic counselor are if you have two or more relatives who have had cancer at a young age and if you belong to a particular ethnic group that is at risk for certain genetic diseases.
To make it easy for yourself and the service effective, the person seeking genetic counseling is required to provide sufficient details of their family, medical history and thus helping the counselor to sketch a family tree.
Like any other profession, genetic counseling has its reasonable allocation of challenges.
Ms Glass says, “One of the major challenges for genetic counselors in South Africa is that there aren’t enough of us to meet the demand. Interestingly, there aren’t enough posts for us in public hospitals. And since genetic counseling is a matter of communication, there are always issues with language because most of our counselors at this university do not speak an African language and to overcome this problem, we have to use translators.
“Genetic counseling services in State (public) hospitals are offered according to the patient’s income; it is often free of charge or attracts a small fee.”
A genetic counseling session takes approximately an hour. If a genetic test is to precede counseling, it may take longer depending on what tests are to be conducted.
Moreover not all South Africans know of the existence of genetic counseling in their country
But those who seek the service take it very seriously, says the counselor.
“Genetic counseling has a huge positive impact on people’s choices and subsequently on their lives. Couples who are at high risk of having a child affected by a genetic condition make serious choices on whether they firstly, want to have another child, and secondly, whether they want to have prenatal testing or not,” she says.
But she warns, “There is a risk of miscarriage if the mother has to undergo a genetic test before birth because of the invasive nature of prenatal testing. For this reason, it is advisable for people to go for genetic counseling before a pregnancy.
“For many of genetic conditions however, we cannot offer testing in South Africa. Thus, we have to send those samples overseas, mainly to Europe and America; this makes it so expensive so that many patients seeking the service in State (public) hospitals cannot afford it.”
Genetic testing is useful for diagnosing certain genetic conditions, predicting your likelihood of developing a certain condition and determining if any children you have are at risk of developing an inherited condition.
Testing usually involves taking a blood or tissue sample and analysing the DNA in your cells.
Genetic testing can also be carried out to find out if a foetus is likely to be born with a certain genetic condition by extracting and testing a sample of cells from the womb.
Over the years, Kenya’s population has suffered a steady rise of cancer, diabetes, heart disease, chronic lung diseases, neurological and psychiatric disorders.
According to the 2011 Global Medicine Report, which is the latest report of its kind, incidences of cancer in Kenya are on the rise, with over 82,000 new cases reported annually and the report blames this upward trend to genetic factors and poor habit among Kenyans.
It revealed that prevalence of hypertension then stood at 27 percent of all chronic diseases patients. At that time diabetes affected 3.3 percent of the population with a projection of 4.5 percent in 2030.
Besides hereditary factors like genetics, the report noted that eating habit is also culpable for the increase of breast, cervix, prostrate and oesophageal cancers.
“The poorest people have the highest risk of developing chronic disease and are incapable of meeting the financial burden needed to manage the conditions,” the report said.
It is certain that incorporating genetic counseling in the healthcare sector would enhance the achievement of Vision 2030.
Chronic diseases that are also referred to as con-communicable ailments account for about 22 percent of total mortality rates and over 50 percent of morbidity rates in the country.
WHO estimates that non communicable diseases account for 35 percent of deaths in the continent.
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