The Life-threatening Disease - Sickle cell disease (SCD)
Silence engulfed us, tension floated in the air; as the truth stared at us (myself and my to-be husband) - we discovered we are scientifically incompatible!
Silence engulfed us, tension floated in the air; as the truth stared at us (myself and my to-be husband) - we discovered we are scientifically incompatible!
After what seemed an eternity, our doctor (also a marriage counsellor) broke the silence; and he began to speak to us.
"You see, I'm grateful for the bold step you both have taken, by deciding to check your genotypes' status.Â
 As the test's result has shown; you both carry a sickle-cell trait - AS, which means if you and your partner will want to go on with your relationship plan, there's a: 1 in 4 chance (25%) for each child you have will not have sickle cell disease or be a carrier - possessing the sickle cell trait (S); 1 in 2 chance (50%) each child you have will be a carrier, but will not have sickle cell disease; 1 in 4 chance (25%) each child you have will be born with SCD - Sickle cell Diseases.
Love is indeed the main reason many couples get married and became one! But those who soon face the challenge of being a parent of a sick baby (ies) will realize that their love will not be enough to alleviate the pains and sufferings of their sick child! It's worth knowing that most sicklers do not survive more than the age of 19 or at most, 20; and those that manage (as a result of access to the latest treatment protocols) can make it to around 40 or 50 years. It's also true that our life expectancy at birth is only 56 years; but for someone who lives his life amidst crises, it's similar to living in fear! Fear of not living, anymore!Â
What is Sickle cell Disease?
Sickle cell disease is a disease which is caused by a defective gene, a gene known as the Sickle cell gene. People with this disease were born with two Sickle cell genes, they were born to have inherited two altered haemoglobin - the part of blood that contains iron that carries oxygen through the body, and gives blood its red colour - genes, one from each parent.
The common types of SCD are :
Sickle cell Anaemia (SS)
Sickle Haemoglobin - C disease (SC)
Sickle Beta - plus Thalassemia, and;
Sickle Beta - Zero Thalassemia.
 The most common type of SCD occurs when one has two Sickle cell genes (SS) - sickle cell anaemia. Other types of SCD involve one Sickle cell gene plus another haemoglobin gene of a different type; the symptoms, diagnosis and treatment of these SCDs are similar.
What Happens when you have Sickle cell Anaemia?
Sickle cells block blood flow to organs, thereby depriving these organs of blood and Oxygen. In sickle cell anaemia, blood is chronically low in oxygen; this lack of oxygen-rich blood can damage nerves and organs, including kidneys, livers and spleen. This can be very fatal.
 Because SCD is a genetic disease, people must be born with it. Children may begin to show symptoms around five months old. Symptoms and complications get worse with age; the transition from paediatric to adult care is linked to many medical challenges.
 A sickler may suffer from the following medical problems:
PainÂ
Sickle cell pain may feel sharp, stabbing, intense or throbbing. Many people with this disease say it's worse than the pain felt after surgeries. The pain they feel seems so unbearable that they often wished they should never be born in the first instance.
 Pain is the most common complication of SCD and the top reason that people with the disease go to the emergency department or hospital.Â
Sickle cells travelling through small vessels can get stuck and block blood flow throughout the body, causing severe pain. A pain crisis (Vaso-Occlusive episode or VOE) can start suddenly, from mildness to severeness, and can last for any length of time. The pain can occur in any part of the body but commonly occurs in the hands, feet, chest and back.
People with SCD can experience acute pain (pain that comes suddenly and lasts for a short time), chronic pain (pain that lasts more than six months), and/or both.
Infection
 People with SCD, especially infants and children are more susceptible to harmful infections, such as the Flu, meningitis and pneumonia.
 Pneumonia is a leading disease which causes death in infants and young children with SCD.Â
 People with sickle cell disease, who require regular transfusions as part of their treatments are also at increased risk for Viral Hepatitis - A serious disease of the liver, that causes fever and makes the skin yellow.
Fever
This may be the first sign of infection or other SCD-related complications, such as Acute Chest syndrome, that can be life-threatening. People with SCD need to go to the emergency department for a fever of 38.5°C or 101°F or greater.
Acute Chest syndrome - ACS
 This is a severe complication in people living with SCD, that can result in Lung injury, difficulty breathing, and very low oxygen to the rest of the body.Â
 ACS may occur when sickle cells block blood and oxygen from reaching the lungs. It can also be caused by a viral or bacterial infection - in Children, especially.
 Signs and symptoms of ACD are similar to Pneumonia, and they can include: chest pain, difficulty in breathing and Fever.
Severe Anaemia
 With SCD, red blood cells die early, leading to a condition called Anaemia.Â
 Anaemia occurs when there are not enough healthy red blood cells to carry oxygen throughout the body system. When a person suffers from anaemia, they feel so exhausted easily.Â
 Other symptoms may include: Jaundice (yellow colour to the skin and whiteness of the eyes), Irritability, Dizziness, fast Heart rate, Delayed puberty and slow growth.
Blood Clot
 Sickle red blood cells can make it more likely for the blood to clot; increasing clot in a deep vein (Deep Vein thrombosis), occurs mostly in the leg, thigh, pelvis, and arm. A DVT can break off and travel to the lungs, thereby leading to a "Pulmonary embolism". A deep vein thrombosis and pulmonary embolism can cause serious illness, and disability and in some cases, it leads to Death.
 Common symptoms of a Deep Vein thrombosis may include Swelling, pain or tenderness, and Redness of the skin.
Dactylitis (Hand-foot syndrome)
 Painful swelling in the Hands and feet is usually the first symptom of SCD in infants and toddlers.Â
 This swelling often comes along with a fever. Dactylitis is caused by sickled cells getting stuck in the blood vessels and blocking blood flow in small bones of the hand and feet.Â
Avascular Necrosis (Death of bone tissues)Â
 Sickled cells can block blood flow in blood vessels that provide blood to bones in our body.Â
 When the bones don't get enough oxygen, the bone tissue tends to die, a complication known as "Avascular necrosis". When insufficient blood reaches the bone, the joint narrows and the bone collapses.
 The most common location of avascular necrosis occurring is at the Hip joint, but it can also occur in other areas of the body.Â
 It leads to severe joint pain in the affected area.
Kidney problems
  Sickled cells can cause reduced blood flow to the kidneys, leading to chronic kidney disease.
 The Kidneys are Organs that filter waste from the blood and produce urine. When the kidney doesn't get enough oxygen, kidney cells can die early, making it hard for this organ to function properly. This can affect the kidney's ability to filter out waste and lead to excessive urination, Fatigue, Nighttime bed wetting and difficulty breathing.
10. Liver problems
 A Liver is an organ that helps the body digest food and helps remove toxins.Â
 Sickled cells in the Liver can cause serious damage to it. Additionally; Some people with SCD receive repeated blood transfusions, which can result in excess iron in the body - this condition is known as "Iron Overload".
 Iron Overload can also cause damage to the Liver. A few health problems that may occur in the Liver of people with SCD include:
Acute Sickle Hepatic crisis
intrahepatic cholestasis:- This occurs when sickle cells block blood flow into the liver, thereby, damaging the liver.
Cholelithiasis:- This is when Gallstones - Hard, strong and rock-like 'stones' - form in the gallbladder (an organ situated behind the Liver, that stores and releases bile to help break down fatty foods); this occurs when sickled red blood cells break down faster than the healthy ones, thereby, producing an excess amount of bilirubin.
Note:- Bilirubin is a yellowish substance that is made during the body's normal process of breaking down red blood cells. A healthy Liver tends to remove the bilirubin from the body; this process doesn't take place in a Liver of a sickler.
Symptoms of Liver problems may include vomiting, Nausea, and Pain in the upper right side of the abdomen.
Organ Damage.
FEAR
 Sicklers tend to live their limited time in fear. They slip into depression, appreciably! They live to question the reason behind their existence.
These, and many more are the likely complications a sickler tends to go through. Would you still ignore, and choose to go ahead with your marriage plan?
You can go ahead if you so wish unless you opt for some options, which may include:
Preimplantation Genetic testing (PGT)
 This is a procedure during which fertility specialists test embryos for genetic conditions; before assisted implantation and conception. By doing this, babies don't have to inherit certain consequences (like SCD) from their parents.
It is done through the biopsy of a day 5 embryo, through a process called "in-vitro fertilization (IVF)". This process can be used to test the genetic conditions of the embryo.
 Healthy embryos can then be selected for implantation.
 PGT - Preimplantation Genetic testing can also be performed on embryos during IVF, to screen for numerical chromosomal abnormalities.
The intending couple may choose not to have children! They can adapt and train children. This can be done to prevent the circumstances of bringing unhealthy children into the world.
Is Sickle cell disease curable?
Yes, it is!
Patients with SCD can be cured by stem cell transplantation, without the necessity for chemotherapy.
Stem cells are young cells in the bone marrow, that mature into new red; or white blood cells, or Platelets (Cells that form blood clots). But this procedure is really expensive.
You both should sit down and talk this out, and be aware of what you're likely to encounter in the marriage you intend to go into - a lifetime contract, it is.Â
Are you ready to face them?" The Doctor ended his long talk with a question we've got to provide an answer to!
This happened six years ago. I was glad we talked it out, as the counsellor had suggested; we parted ways - it was hard and complicated, but we overcame and moved on.
 Today, I'm happily married to my lovely husband, with two blessed and healthy kids. My ex-fiance is joyfully married to a lovely woman.
Know your genotype, today. Don't be blinded by love.
Live healthily, and stay safe!
Written: Aa'ishah Ajibola Omowumi