GENETIC DISORDERS | CAN YOUR GENE COMPOSITION CHANGE?

GENETIC DISORDERS | CAN YOUR GENE COMPOSITION CHANGE?

Is a genetic disorder robbing you of the chance to be truly happy? Finding true love is not an easy task, yet finding someone who loves you beyond your imperfections and health challenges can only be God’s ordinance. If you’re a sickle cell sufferer or your carrier of the sickle cell trait, it’s no fault of yours.

Genotype compatibility

It was never your choice to be born, so if you’ve found love? A genetic disorder should not form a base for another form of discrimination. With the right knowledge, financial enablement and social support, you should be able to lead your life according to your own terms and be truly happy.

Left for me alone, with a genetic disorder or what have you, every breathing human deserves a chance at love. Today’s post we are going to look at the possibilities of making healthy babies regardless of your genotype incompatibility. I can hear someone asking ‘’is that even possible?’’

Yes, it is.

It is no longer news that people living with sickle cell can lean a normal life and participate in activities of daily living just like any normal person.

However, living with a genetic disorder like sickle cell sometimes can be hellish; there is this annoying incessant numbing pain that originates from the bones. Especially; a dull, throbbing, sharp or stabbing pain at the back, knees, legs, arms, chest or stomach.

Genotype compatibility

From my observation, the pain is so excruciating and somehow unbearable. As a nurse working in a hospital, I’ve cared for so many people with a genetic disorder like sickle cell anemia. Whenever a person living with sickle cell anemia has crises, the situation is never an easy one.

It’s possible for someone living with sickle cell anemia to fall sick now and then. In severe cases of anemia, there’ll need a blood transfusion. For me, it serves as a reminder; ‘’that sickle cell is no joking at all’’. I wouldn’t wish that on my worst enemy.

Genotype compatibility

In my opinion, for every challenging condition, there’s always a way out. As far as human existence is concerned, no problem is totally insurmountable. As long as you set out your mind to achieve results. Everybody deserves a chance at love.

I have heard of countless stories about how people meet and fall in love, after years of courtship, in the heart of marriage preparation, only for them to find out about their genetic disorder and incompatibility. These couples are often told not to proceed any further with their relationships for fear of producing sick babies.

That ushers in the next question.

WHAT IS A GENOTYPE?

Biologically, a genotype can be said to be a collection of an individual’s genes (a gene is the basic physical and functional unit of heredity). The term also can refer to the two alleles inherited for a particular gene. The genotype is expressed when the information encoded in the genes’ DNA is used to make protein and RNA molecules.[4]

Genotype forms the genetic identity of a person. There is also a term “phenotype”, which describes your physical characteristics – not only the obvious ones like the hair and eye color but also the general health condition, the history of diseases, and character traits.[3]

WHAT’S GENOTYPE VERSUS PHENOTYPE?

In genetics (relating to genes or heredity) genotype and phenotype are two important terms. The two terms are often used at the same time to describe the same organism, but there is a difference between genotype and phenotype.[6] An organism’s genotype is the set of genes in its DNA responsible for a particular trait, while, an organism’s phenotype is the physical expression of those genes.

Consequently, a person’s genotype is the set of genes that it carries. Contrariwise, a person’s phenotype is all of its observable characteristics — which are influenced both by its genotype and by the environment [5].

Genotype compatibility

For example, a genetic disorder like someone with albinism or SCD would most likely have a mutated TYR or SS gene because that’s the most common cause of albinism or sickle cell disease respectively.

Whereas every trait is determined by a gene, just a few of the countless examples of the phenotypes of living things include; Eye color, Hair color, Height, Sound of voice

CAN YOUR GENOTYPE CHANGE?

Genotype compatibility

As a health practitioner, I’ve been asked several if a person’s genotype could change. My response to this mind bugging question is yes and no. Despite the fact human error can contribute to an error result in the laboratory, to eliminate any doubts, a second or third opinion is always requested by physicians before diagnosing SCD.

Of course, there is also the mention of the spiritual healing of a genetic disorder like SCD. It is common in Nigeria and African to hear people hosting thanksgiving for miraculous healing. This should not trick you into making irrational decisions when it comes to a genetic disorder.

Science and religion are not miscible, according to an English theoretical physicist and cosmologist, Stephen Hawkings “There is a fundamental difference between religion, which is based on authority, and science, which is based on observation and reason. Science will win because it works.”[7]

I am not disputing the power of God or religion, as a believer, it is important to have faith according to the good book (Matthew 17:20) “Because you have so little faith,” He answered. “For truly I tell you, if you have faith the size of a mustard seed, you can say to this mountain, ‘Move from here to there,’ and it will move. Nothing will be impossible for you.”

Similarly, an Islamic quote says “Faith is Trusting GOD even when you don’t understand his plan.” [9].

For those who believe, a miracle from God is not totally impossible but scientists have tried to present a tangible claim why genotype can actually change. Even though, this rarely happens. Yes, it’s possible!

Naturally, “genotype remains constant from one environment to another, although occasional spontaneous mutations may occur which cause it to change’’ [8]. Yet, someone with a genetic disorder is less like to experience any miracle is his or her lifetime. So there’s absolutely no need trying your luck with a natural fate

Steve Schwartz biology teacher who has taught university-level biology for over 30 years quoted “change in a genotype might be major or minor.  It depends on the degree of change.  A genotype changes due to errors we call mutations.  Some are endogenous, occurring with the organism, often during meiosis that causes changes in a genotype.  Some are endogenous (promoted from outside the organism) such as chemicals, x-rays, ultraviolet light.  These factors are called mutagens (causing mutations).’’

 WHAT IS A GENETIC DISORDER?

Genotype compatibility

People with a genetic disorder based on their genotype have a big risk of having a sickle cell disease baby, which is a serious issue that significantly reduces the lifespan and makes a person struggle physically and health-wise.

This is why romantic relationships that’ll lead to childbearing should not be taken too seriously until a genotype compatibility test. The current practice remains to advise couples who are incompatible to discontinue their relationships.

The child’s genotype will directly depend on the parents’ genotypes combination. Just about a few decades ago, there was a high mortality rate among children who were born to parents with a genetic disorder due to incompatible gene type; it wasn’t a popular concept like today.

Current trends remain, the health system has found different ways to ease their pain, but the disease is still dangerous, so you are strongly recommended preventing your future children from this fate.

For those with no partners, it is absolutely important to know your own genotype and undertake medical tests that determine it because it does affect your life directly or indirectly and the life of your future babies as well.

HOW TO KNOW YOUR GENOTYPE COMPATIBILITY?

AA + AA = AA, AA, AA, AA            (Excellent)
AA + AS = AA, AS, AA, AS,           (Good)
AA + SS = AS, AS, AS, AS,           (Fair)
AA + AC = AA, AA, AA, AC.           (Good)
AS + AS = AA, AS, AS, SS,         (Very Bad)
AS + SS = AS, SS, SS, SS,         (Very Bad)
AS + AC = AA,  AC, AS,SS.        (Bad; Advice needed)
SS + SS = SS, SS, SS, SS,         (Very Bad)
AC + SS = AS, AS, SS, SS,          (Very Bad)
AC + AC = AA, AC, AC, SS.      (Bad; Advice needed)

From the above gene combinations, depending on your genotype compatibility outcome, you might need to consult your physician before making any serious commitment to making babies with your partner.

CAN AC, AS OR SS PARTNERS, MAKE BABIES THAT ARE NOT SS?

There are a few variations of genotypes that determine your traits and the traits of your future babies. Usually, they are AA, AS, AC, and SS. The genotype AC is quite uncommon, according to publication in Malaria journal people with this gene combination are said to have high resistance to malaria parasites [9]. 

The AC genotype together with the genotype SS, is said to be abnormal gene pairs, usually, referred to as sickle cells. As for AA and AS, they are normal genotypes that can be found the most often. Your children’s genotype depends on the combination of the genotypes of their parents.

‘’Usually, children that are born to the same parent have different genotype – the exception can be twins, triplets, or multiples that were in the same womb’’ [3].

The popular advice for people with bad or very bad review options would be not to continue with sexual relationships leading to childbearing due to high risk of producing unhealthy children. Usually, there’s a 100%, 50% and 25% depending on your genotype incompatibility risk level.

No mother wants a sick baby; SCD can lead to lifelong disabilities and reduce average life expectancy. According to CDC.org ‘’the financial cost of SCD in the US is high, both to people with the disease and to the health care system. Costs for hospital stays due to complications of SCD were estimated at $488 million in 2004[10], that’s about One Hundred and Seventy Billion, One hundred and forty-four Million (N170, 144,000,000.00) yearly.

Genotype compatibility

If that is an advanced clime, imagine the impact in an economy like ours.  

More than 160 million, that’s about 2 to 3% Nigerians,   are affected by SCD.

The yearly financial cost estimation of having an SCD child does not include time and other uncountable resources. However, out of faith, love or reasons beyond human comprehension, some people wouldn’t just throw away true love for a 25% chance of having a sick.

While this is risky and not recommended, if you insist on having a baby with your genotype incompatible partner, there is another option for you.

Until about a decade ago, there wasn’t any other option. Thanks to the stars, emerging trends in medical diagnoses and treatment have greatly narrowed the gap created by knowledge deficiency about sickle cell anemia.

Modern medicine has made things much easier for you, scientifically, you can opt for embryo implantation with pre-implantation genetic diagnosis (PGD) ‘’involves removing a cell from an IVF embryo to test it for a specific genetic condition (cystic fibrosis the most common example) before transferring the embryo to the uterus [11]. Consult a fertility hospital or an IVF centre for more in debt advice on how to go about the procedure.

Genotype compatibility

HOW TO HELP SOMEONE  WITH A GENETIC DISORDER LIKE SICKLE CELL ANEMIA?

Personally, I have friends who are genetic disorder sufferers; my favorite patient turned friend is one. Her name is Grace; she is just 27 years old, beautiful and smart. Just by looking at her pointing nose, perfectly round and beautiful face, you can never tell she has sickle cell disease.

She is always cheerful or at least tries to be sociable. But behind her smile lies profound unhappiness. Though she tries to hide her depression from people, deep inside she’s not joyful.

Once I was called in the middle of the night, she needed a blood transfusion. Since we are of the same blood grouping, I was informed about her PCV (packed cell volume- a measurement of the proportion of blood that is made up of cells) which was low.

 I had to oblige and donate a pint of blood for her. Grace was a popular patient, always coming to the hospital for check or admission whenever she had those really annoying crises, that’s how we became friends.

One day, she told me a very shocking secret.

She told me how she hated herself, her parent and life in general. I understood she was depressed at the time. I didn’t attach much sentiment to her words. Later that week before she was discharged after about a week of admission, I ask her if she was really sure of what she told me earlier that week about herself and parent.

She retorted and reaffirms her words. I was surprised all over again. She even went further to say she once attempted suicide, but she didn’t have the guts to do.

I was touched, so I inquire more about her social history. Even though she had friends, both boys, and girls, she wasn’t in any romantic relationship. She told me, aside from the recurrent crises and throbbing pain, her relationships barely last six months. Once her partner discovers she’s a sickle cell sufferer, they’ll always evaporate like steam and leave her heartbroken.

Next, she’ll meet another person and the same thing happens, it was sad and disheartening. She felt helpless and gave up on finding love. I felt incapable of helping her out. This could happen to anyone. Even her family sometimes gets tired of her incessant complaints of pains and always needing support when she has crises.

SCD is an enduring disease; it is therefore very common for people with a chronic ailment to feel sad and miserable at times. It is absolutely important to form a supportive network around people like them to avoid the condition from depreciating further.

Just like my friend Grace a lot of genetic disorder sufferers might be thinking of harming themselves. If you notice such, get medical help immediately.

When you’re living with someone who has SCD, the little things you do to help the person to enjoy a normal life makes a big difference. For some who do not have adequate knowledge on how can help, here a few smart tips on how you can provide support:

SMART HEALTH TIPS FOR MANAGING SCD:

  • Help when there is a crisis. Being conversant with the signs that accompany crises can help you reduce the impact on your loved one. You should be able to understand your loved one’s attitude; this will help you to be conversant with any deviation from their normal behavior. It’s possible for someone who is SCD to endure pain and tries to bottle up their emotions for fear of not being seen as disturbing or annoying.
  • Provide support always; always keep it at the back of your mind the signs and symptoms that are likely, be always ready to be called upon, sometimes the crises can start in the middle of the night. You should be able to cope and make adjustments to your schedule when necessary. Especially, if your child is living with a genetic disorder like SCD.
  • Assist with pain relief. Easing the pain that comes with SCD crises isn’t necessarily medication, even though some pain relief should not be far reached. Helping with a massage, finding a heating pad, applying bandages, helping with a breathing exercise or other diversions could reduce the side effect that occurs alongside medication. This could reduce the amount of pain relief and help the person relax.
  • Join a community and support services. Joining a community like SCFN (Sickle Cell Foundation Nigeria)[1] might be a baby step to curbing the menace of SCD. Supporting your loved one to live optimally cannot be overemphasized, take part and be involved. Look at a local community group and join them. There are also social workers, medical groups and NGOs both national and international that can help families deal with SCD.
  • Locate Sickle cell groups or clubs [2], clinics or health professionals with the right knowledge can counsel you and connect you with support groups with people who are facing similar situations.

REFERENCE

  1. https://www.sicklecellfoundation.com/about-us/
  2. https://www.sicklecellfoundation.com/nigerian-sickle-cell-clubs/
  3. https://www.legit.ng/1164286-genotype-compatibility-marriage.html
  4. https://www.genome.gov/genetics-glossary/genotype
  5. https://evolution.berkeley.edu/evolibrary/article/genovspheno_01
  6. https://examples.yourdictionary.com/examples-of-genotype-phenotype.html
  7. https://www.goodreads.com/quotes/tag/religion-and-science
  8. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3108095/
  9. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3544150/
  10. https://www.cdc.gov/ncbddd/sicklecell/about.html

https://www.thebridgeclinic.com/patient-care/services/preimplantation-genetic-testing-pgt

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