Warriors and Survivors

Children Cancer Stories by Rukh Yusuf - Blog # 16

I am Rukh Yusuf, Clinical Pharmacist, also specialized in Total Parenteral Nutrition and Bone Marrow Transplant. I have been working in Pediatric Oncology unit of a public hospital for several years. The mission of this blog is to bring to you the real-life stories of child patients suffering from cancer. Cancer is still a difficult disease to handle and treat. However, when it strikes the children, some so young that they cannot even speak, their agony is beyond expression and words. Let us pray especially for children suffering from cancer for early and complete remission. May Allah shower His Merciful Blessings upon them. Aameen.

Possible Effects of Cousin Marriages – 3

Last blog’s warrior was six years old Sidra from Sheikhupura suffering with Beta Thalassemia Major. She is a child of consanguineous marriage. The siblings of her parents were also married to their first, or second cousins. There is a trend of cousin marriage in her family. With repeated transfusions, iron keeps accumulating which is a common complication of thalassemia syndromes, and which could lead to the development of organ damage. Usually In these patients, iron deposition in parenchymal tissues begins within 1 year of starting the regular transfusions.

Today, we shall talk about the role cousin marriage as a reason for thalassemia. Thalassemia is an autosomal inherited disorder of hemoglobin which is an important oxygen carrier of our body. Without hemoglobin our cells would die.

A person inherits Hemoglobin gene from his/her parents. If only one of the genes is faulty, the child gets only half of the corrupt hemoglobin. This decreases the total oxygen carrying capacity of blood, but still the other half of the hemoglobin is intact and that can transport oxygen. This is called Thalassemia minor. People who have a Thalassemia trait can have it silently for life without knowing it, but trouble starts when both copies of the gene are corrupt. This occurs when two people with thalassemia trait marry and have a child. That child has 25 percent chance of developing full blown thalassemia major and fifty percent chance of developing thalassemia minor.

This is also a fact that the risk of inheriting thalassemia in Pakistan is almost the same between cousin marriages as between marriages outside family. It is so because even if there is no cousin marriage in the immediate generation, there would be history of it in the previous generations. And, although being widely reported, inbreeding is not the only cause of increase in thalassemia, we are observing in Pakistan.

Cousin marriages may come with many genetic diseases like cystic fibrosis, Gaucher’s Disease, Hemochromatosis, Sickle cell disease, Phenylketonuria and Thalassemia. The list is longer than above. As per study by Aideen Maguire et al. “A child of consanguineous parents is at increased risk of common mood disorders and psychoses”.

These diseases are a long-term burden in terms of healthcare cost and lifelong misery not only for patient, but for the whole family. There is urgent need for prevention and cure of such diseases. These diseases can be prevented by two ways:  One: Cousin marriage must not be a custom within family. Marriages should be planned within and outside of the family equally.  In this way genetic defects may not get strengthened in generations.

Two: Taking a blood test before marriage. “In Indonesia and Iran, it is a common practice that if you’re opting for a cousin marriage the couple-to-be have to take a blood test for these diseases,” By doing so, these countries have almost gotten rid of thalassemia.

In Pakistan, the annual number of infants born with genetic and other disorders related to consanguineous marriage is the highest as compared to other countries from Eastern Mediterranean region.

Although the management and control of genetic disorders including thalassemia and mental health issues, is a difficult task, it can be achieved via the assistance of prenatal diagnosis and prevention programs. The only way to prevent genetic disorders in Pakistan is to make and implement a law for widespread screening before marriage. Moreover, cousin marriage was never forbidden but making consanguineous marriages as a custom from generation to generation should be avoided to limit the future burden of complex genetic and other complications including thalassemia.

 

We all pray for ease for Sidra and her family. Aameen

 

Note: Names have been changed to protect identity.

 

 

 

 

Warriors and Survivors - Children Cancer Stories by Rukh Yusuf - Blog # 15

I am Rukh Yusuf, Clinical Pharmacist, also specialized in Total Parenteral Nutrition and Bone Marrow Transplant. I have been working in Pediatric Oncology unit of a public hospital for several years. The mission of this blog is to bring to you the real-life stories of child patients suffering from cancer. Cancer is still a difficult disease to handle and treat. However, when it strikes the children, some so young that they cannot even speak, their agony is beyond expression and words. Let us pray especially for children suffering from cancer for early and complete remission. May Allah shower His Merciful Blessings upon them. Aameen.

Possible Effects of Cousin Marriages – 2

Six years old Sidra visits hospital regularly with her grandparents to get her treatment. She is patient of Beta Thalassemia major since her birth. Poor soul lives in Sheikhupura and have to travel to Lahore twice or sometimes three times a month for her treatment including blood transfusion.

She started looking pale when she was few months old. Initially, she was advised haematinics and other vitamins and later was referred to tertiary care hospital. Here she was investigated and diagnosed as Beta Thalassemia Major.

About her family, Sidra’s parents are first cousins; there is a trend of cousin marriage in her family. The siblings of her parents are married to their first, or second cousins. Her father passed away couple of years ago. Sidra’s mother looks after other two children and not healthy enough to travel this much for treatment of her daughter. That is why grand parents took the responsibility of her treatment.

Thalassemia is an inherited blood disorder in which the body makes an abnormal form or inadequate amount of hemoglobin. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia. Hemoglobin is made of two proteins: Alpha globin, and Beta globin.

Thalassemia occurs when there is a defect in a gene that helps control production of one of these proteins. There are two main types of thalassemia: Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated). Beta thalassemia occurs when similar gene defects affect production of the beta globin protein. Both alpha and beta thalassemia include Thalassemia major and Thalassemia minor. There are many forms of thalassemia. Each type has many different subtypes.

Alpha thalassemia occurs most often in people from Southeast Asia, the Middle East, China, and in people of African descent. Beta thalassemia occurs most often in people of Mediterranean origin. To an extent Chinese, Asians, and African Americans can be affected.

The patients inherit the gene defect from both parents to develop thalassemia major. Thalassemia minor occurs if patients receive the faulty gene from only one parent. People with this form of the disorder are carriers of the disease. Most of the time, they do not have symptoms. If both parents are carriers (more chances in case of consanguineous marriage) for beta thalassemia, there is a 25% chance their babies have the disease, 50% chance their babies are carriers for the disease and 25% chance their babies don't have the disease or the gene.  In rare instances, beta thalassemia can be passed to a child if only one parent has the gene.

For moderate to severe thalassemia, treatments might include all these:  Frequent blood transfusions. More severe forms of thalassemia often require frequent blood transfusions, possibly every few weeks. Over time, blood transfusions cause a buildup of iron in blood, which can damage heart, liver, and other organs.

Chelation therapy. This is the treatment to remove excess iron from blood. Iron can build up as a result of regular transfusions. Some people with thalassemia who don't have regular transfusions can also develop excess iron. Removing the excess iron is vital for health. To help rid the body of the extra iron, the patients might need to take an oral medication, such as deferasirox or deferiprone. Another drug, deferoxamine, is given intravenously.

Stem cell transplant. Also called a bone marrow transplant, a stem cell transplant might be an option in some cases. For children with severe thalassemia, it can eliminate the need for lifelong blood transfusions and drugs to control iron overload.

Unaware of her disease and possible outcome, Sidra has to come to hospital for her blood transfusion and chelation therapy at least twice a month. Sometimes she needs an early transfusion from her city when her hemoglobin drops suddenly. It is quite difficult for her grandparents to find matched and safe blood. It is not even easy for them to travel to Lahore so frequently in this age. Sidra”s health status is another concern, with passing time her blood transfusion duration is decreasing.

I shall further discuss about Sidra, thalassemia diagnosis and cousin marriage in next blog,

 

 

 

We all pray for ease for Sidra and her family. Aameen

 

Note: Names have been changed to protect identity.

 

Warriors and Survivors

 

 Children Cancer Stories by Rukh Yusuf - Blog # 14

I am Rukh Yusuf, Clinical Pharmacist, also specialized in Total Parenteral Nutrition and Bone Marrow Transplant. I have been working in Pediatric Oncology unit of a public hospital for several years. The mission of this blog is to bring to you the real-life stories of child patients suffering from cancer. Cancer is still a difficult disease to handle and treat. However, when it strikes the children, some so young that they cannot even speak, their agony is beyond expression and words. Let us pray especially for children suffering from cancer for early and complete remission. May Allah shower His Merciful Blessings upon them. Aameen.

Possible Effects of Cousin Marriages – 1

Eleven months old Abdul Ghani is today’s warrior. Abdu Ghani is only child of his parents who belong to Sialkot from a lower middle class family. His mother was worried when he had recurrent fever and abdominal swelling since his birth. She reached pediatric hospital in Lahore after many referrals. Abdul Ghani was diagnosed as case of Bilateral Wilms tumor. (I will discuss Wilms tumor in next blog). So far Abdul Ghani has received six pre op chemotherapy cycles and waiting for surgery. Let’s pray and hope his successful surgery and recovery.

Poor child is having this disease since birth, As per family history, Abdul Ghani’s mother is married to her first cousin, Grandparents of both of them were first cousins too. Most of siblings are married to their first, second or even fourth cousins. There are many diseases labeled as genetic disorders but there are many not labeled as genetic disorder but have relation with genetic mutation and disorder and cousin marriage is directly linked with genetic diseases.

Marriage between cousins is taboo in much of the Western world. In the United States, 31 of 50 states outlaw marriage between first cousins, or allow it only under certain circumstances.

Although cousin marriage is banned in much of the US, the practice is tolerated and even encouraged in other parts of the world including Pakistan. In South Asia and the Middle East, for example, 20-50% of marriages are between first cousins or even closer relatives. They're in good company. More than 10% of people worldwide are married to a second cousin or closer, or have parents who are cousins.

Genetically speaking that means they shared their DNA. And the more closer relative they marry  the more DNA they share, the greater the chance their offspring will have a genetic disease like cystic fibrosis, sickle-cell anemia and Thalassemia.

Most important is, Parents don’t have to be sick in order to give child a genetic disease.

For example: Sickle cell anemia is caused by a mutation in the gene, both mother and father must pass the defective/ mutated form of the gene for a child to be affected. So, if child only have one defective copy, kid is unaffected. Instead, he/she is called a “carrier”. If one carrier marries with a non-carrier, there’s no risk of the kids getting sick. But when both parents carry a defective copy of gene, then the kids have a 25% chance of inheriting two copies of the defective gene and having the disease.

Scientists have calculated the numbers and it shows the risk that the cousins would have a kid who inherits a genetic disease is 4-7%. For the general population, it’s 3-4%. But here’s the catch: There may be  thousands of defective genes for malignancies and blood disorders that could be hiding in family tree and there are chances that these defective gene express themselves in case of cousin marriage.

Moreover, if kids also marry their first cousins and their kids marry their first cousins it’s a recipe for disaster. Because instead of introducing new, potentially helpful genes into the family gene pool, they are recycling the old  and possibly dangerous ones.

As per a study conducted in UAE population about Consanguinity in Leukemia and Lymphomas by Bener et al. The consanguinity rate in the families of patients with ALL (Acute Lymphocytic Leukemia) is significantly higher than those with NHL and HL.

In 'Consanguinity in Context,' medical geneticist Alan H. Bittles of University of Australia examines and explains common misconceptions about cousin marriage from legal, cultural, religious and medical perspectives. Bittles writes, there's no doubt that children whose parents are close biological relatives are at a greater average risk of inheriting genetic disorders. But the risks of illness and early death are three to four percent higher than in the rest of the population.

In native population of Pakistan, the rate of consanguineous marriages is high. Pediatric Cancer prevalence is increasing. Pakistani population and Government need to realize the consequences of cousin marriage and consider legislation as per medical perspective. As a rule, cousin marriage should not be a tradition to avoid genetic mutations and deformities. We shall see Thalassemia and its relation to cousin marriage in next blog.

 

We all pray for Abdul Ghani’s recovery and ease for his family. Aameen

 

Note: Names have been changed to protect identity.

Ref: Business Insiders’s article written by Gene Kim and Shira Polan in 4 Aug 2018

 

Warriors and Survivors

 Children Cancer Stories by Rukh Yusuf - Blog # 13

I am Rukh Yusuf, Clinical Pharmacist, also specialized in Total Parenteral Nutrition and Bone Marrow Transplant. I have been working in Pediatric Oncology unit of a public hospital for several years. The mission of this blog is to bring to you the real-life stories of child patients suffering from cancer. Cancer is still a difficult disease to handle and treat. However, when it strikes the children, some so young that they cannot even speak, their agony is beyond expression and words. Let us pray especially for children suffering from cancer for early and complete remission. May Allah shower His Merciful Blessings upon them. Aameen.

It is difficult to call “Warrior” or even “Survivor” to a two-year-old Zainab who is too young to understand her disease and condition. Zainab is the first child of her parents and belongs to middle class family of Lala Musa.

Few months ago, Zainab’s mother felt mumps and swelling on her face and neck. The parents consulted a physician in Lala Musa and Zainab got better after some initial treatment. After few days, she developed swelling on her arm at canula site.

She was examined by a couple of pediatricians one after another in her city, but nothing was diagnosed and her condition did not improve as well. The Child Specialist asked for CBC and blood culture, CBC showed raised WBCs and the physician suspected infection or some malignancy. She was referred to pediatric hospital in Lahore. Zainab was diagnosed as case of T-cell ALL after few tests at a hospital in Lahore.

T-cell acute lymphoblastic leukemia (T-ALL) is aggressive and progresses quickly. It affects the lymphoid-cell-producing stem cells, in particular a type of white blood cell called T lymphocytes as opposed to acute lymphoblastic leukemia (ALL) which commonly affects B lymphocytes.

In most cases of T-Cell ALL there is no obvious cause, and it is not passed on from a parent to a child (inherited). T-ALL is most common in children and T-ALL affects males more than females at all ages.

Symptoms may include anemia, weakness, tiredness, shortness of breath, palpitations. Infections are more frequent, more severe, and last longer. Fever, malaise (general feeling of illness) and sweats, purpura (small bruises in skin), nosebleeds and bleeding gums are also common symptoms. Other important signs and symptoms include swollen lymph nodes in the middle part of the chest (mediastinum) which may affect breathing or the circulation.

Diagnosis usually involves blood counts, bone marrow biopsy and flow Cytometry.  Staging is not used for T-ALL, because it spreads throughout the body when first diagnosed. Most cases of T-ALL are classed as high risk. With appropriate treatment, they have a very good chance of successful treatment.

Virtually all patients with T-ALL should start treatment immediately. The main ways in which leukemia is treated are chemotherapy, steroids, and radiation therapy. Radiation therapy is usually given only as part of a stem cell transplant in T-ALL. Younger, suitable patients may be given a stem cell transplant (bone marrow transplant). This is done using healthy stem cells from a donor. Transplant is usually done for T-ALL if chemotherapy does not cure the disease.

Zainab received chemotherapy and completed her induction successfully; her post induction report was satisfactory. The parents were satisfied about treatment and relaxed to see progress. But their relief did not last longer. To their dismay, after couple of weeks she again developed fever and swelling and was admitted again. Treatment and diagnostic tests were done, and it revealed that her disease had relapsed.  Doctors said, her further treatment was not possible as patients with relapsed T-cell acute lymphoblastic leukemia (T-ALL) have limited therapeutic options and the disease had poor prognosis. 

The news was disheartening for a mother whose only child is suffering with such a disease with no or minimal hope for cure. Zainab is on palliative treatment only; her parents and family are approaching different experts to find some solution for the sickness of their little angel with tears and hope in their eyes.  Poor Zainab is not in a position to know about her current and future life. She is living as happily as she can, in her innocence.

There is some development in Zainab’s treatment, some new finding have been found in more diagnostic tests. I will update about this when the information is completed.

We all pray for Zainab’s recovery and ease for her family. Aameen

 

Note: names have been changed to protect identity.

Warriors & Survivors

Children Cancer Stories by Rukh Yusuf - Blog # 12

I am Rukh Yusuf, Clinical Pharmacist, also specialized in Total Parenteral Nutrition and Bone Marrow Transplant. I have been working in Pediatric Oncology unit of a public hospital for several years. The mission of this blog is to bring to you the real-life stories of child patients suffering from cancer. Cancer is still a difficult disease to handle and treat. However, when it strikes the children, some so young that they cannot even speak, their agony is beyond expression and words. Let us pray especially for children suffering from cancer for early and complete remission. May Allah shower His Merciful Blessings upon them. Aameen.

Very few people have a breezy life all through, most of us get our share of trials, sorrows, and agony to keep us humble. In last Ramadan, ten years old Ayesha started feeling dizzy and looked pale. Being already a slim child, her parents thought she was getting weak. Her mother tried to improve her diet, but Ayesha did not feel any better. Soon, she was unable to walk properly due to her dizziness, and she looked paler too.

My today’s Warrior and Insha Allah future survivor is ten years old Ayesha, a student of class six who belongs to an upper middle-class family of Faisalabad.  Her father is running a small business in Faisalabad. She has an elder brother and two younger sisters. Ayesha’s mother is a brave educated lady.

Her mother discussed Ayesha’s condition with her younger sister who is a doctor in USA. The aunt suggested CBC (complete blood count), and CBC showed her deranged counts with Hemoglobin (Hb) of 6. The aunt suggested blood transfusion, but it was difficult for parents to believe and agree to transfusion, so they did not transfuse blood.

Ayesha was getting worse day by day and suddenly, one day she fainted. The CBC was repeated on aunt’s advice, and this time the CBC showed more deranged counts with Hb of 4. Blood was transfused, but the aunt did not tell parents about the details of Ayesha’s illness.

The parents took her to the best hospital in Faisalabad, but after initial tests, she was referred to Lahore. Finally, she reached Pediatric cancer unit of tertiary care hospital in Lahore. Here she was diagnosed as a case of Acute Myeloid Leukemia (AML) and her treatment started.

Acute myeloid leukemia (AML) Is a cancer of the bone marrow and the blood that progresses rapidly without treatment and affects immature cells. These cells can't carry out their normal functions. AML can be a difficult disease to treat.

There is no known cause for most cases of AML. For most people who have AML, there are no obvious reasons (risk factors) as to why they develop the disease.

It is common for people with AML to feel a loss of well-being because of the underproduction of normal bone marrow cells. The patients may tire more easily and have shortness of breath during normal physical activities. People with AML may also have a pale complexion from anemia, headaches, signs of bleeding caused by a very low platelet count, including black-and-blue marks or bruises occurring for no reason or because of a minor injury, the appearance of pinhead-sized red spots on the skin called “petechiae” and prolonged bleeding from minor cuts.

Blood and bone marrow tests are used to diagnose AML and the AML subtype. A change in the number and appearance of blood cells helps to make the diagnosis. A complete blood count (CBC) shows lower-than-expected numbers of RBCs and platelets. A peripheral blood smear shows the presence of leukemic blast cells (myeloblasts). A person with AML usually has too many immature white blood cells (leukemic blasts) in the blood and too few mature white blood cells. The immature cells do not function like normal, mature white blood cells. Other tests include bone marrow and genetic tests.

Most AML patients, particularly patients with high white cell counts, need treatment soon after diagnosis because of the disease's rapid progression. The initial goal of treatment usually is to get the patient into remission. The long-term goal is to cure the disease.

Treatment include chemotherapy or other drug therapies. Stem cell transplant is also an option but that is done after chemotherapy.

Acute myeloid leukemia (AML) only accounts for about 20 percent of childhood leukemias. The overall survival rate has increased for children with AML but is still much lower than that of childhood acute lymphocytic leukemia (ALL).

Ayesha’s mother said she cannot describe her feelings when they first came to know about her daughter’s disease. She used to cry alone all the time. Little angel came to know about her disease when she had to get admitted in the Cancer department. It was so heartening to reply to her about her questions related to disease. Now she knows all details of her ailment and getting treatment like a warrior. The doctor says that the stem cell transplant may be needed for her after chemotherapy. Her parents only want their healthy child, they are ready for the transplant too.

Ayesha’s second course of chemotherapy is going on and she is fighting bravely so far. Her mother says still there are days when they have to sum up their courage from scratch. The chemo is difficult and so is seeing her child suffering with such a disease.

We all pray for early and complete recovery of Ayesha and ease for her family. Aameen

Note: names have been changed to protect identity.