Newsletter - June 2013
June 19 is World Sickle Cell Awareness Day
My Life Through Sickle Cell
Hi, my name is Marriam Carol Mulumba. You can call me Carol. I was born on May 31, 2001. I am 12 years old. I was born with a disease called Sickle Cell Anemia. Unfortunately for me, I had the severe type. The doctors said I wouldn't live past five. My mom and dad were depressed all the time. Everything was hard for me. Running, walking, and even holding something was so painful! My life was miserable.
My brother Mark was born on August 8, 2003. My parents found out that they could save his cord blood so that it could be used later to possibly help me. That's what they did when Mark was born. My mother's doctor contacted Cord Blood Registry, which helped my parents to bank Mark's cord blood for free through their Designated Treatment Program. My sister Aliah was born on July 20, 2007 and they banked her cord blood too.
At the age of five year, my disease was getting even more severe. I took pain drugs and had multiple blood transfusions, but even morphine or dilaudid was not stopping the pain and I was very sick. I didn't have much time. My blood doctors said that for me to live I needed a transplant. Tests done earlier showed that both my sister Aliah and my brother Mark were perfect matches for me! My doctors at Lackland Air Force Base in San Antonio coordinated with Methodist Hospital in San Antonio Texas who performed my transplant. I was admitted to Methodist for a month. On October 28 and 29th in 2008, I received both my brother Mark's saved cord blood and some of his bone marrow too. He had to go through a surgery when he was only 5 years old to save my life!
After the transplant with Mark's cord blood and bone marrow, I started to get better and soon enough I was free! Now when you look at me you'd think I never even had that horrible disease. My yellow eyes disappeared and are now white. My chapped lips are now rosy pink! I feel like any normal kid, but I still don't like running. Now I can bike with my friends for over two miles without any chest pain or fainting like before!
I even got to meet President Obama in the oval office, thanks to the Make-A-Wish Foundation! All because of my brother's cord blood and bone marrow transplant, I am your average 12 year old girl.
My family originally come from Uganda in East-Africa. Because of what we went through as a family with my sickle cell, my parents started a charity called Uganda-American Sickle Cell Rescue Fund (UASCRF) to educate people about sickle cell disease and its cure through use of cord blood and bone marrow transplant. Their goal is to develop sickle cell policies and build a sickle cell center in Uganda. I am proud to be able to tell people about my experience and help others. My mom let me speak to several children waiting for transplant; I counsel them about chemotherapy, cord blood, and bone marrow transplant. I tell them that, it will be ok and it is worthy having a transplant.
Thank you to Methodist Hospital, the Air Force, CBR, my friends, family, and all of my supporters!
Building Biobanks for Africa
It is known that many infectious diseases such as HIV/AIDS are epidemic in Africa, where over 22 million people live with this disease. However, non-communicable and genetic diseases also have a high prevalence in Africa, and need to gain higher priority in the health agenda. Over 12 million people in Sub Saharan Africa have diabetes, and the prevalence is rapidly increasing. The World Health Organization (WHO) reports that 75% of the cases of sickle cell disease occur in Africa. In some countries like Nigeria, 150,000 children are born with the condition each year. Furthermore, the sickle cell carrier status is as high as 45% in countries like Uganda, and ranges between 20% to 30% in countries like Nigeria, Ghana, Republic of Congo, Gabon and Cameroon. (1)
There are several successful approaches to improve health and survival for sickle cell patients, including genetic counseling, early detection, chemoprophylaxis and vaccines. (1) In severe cases of sickle cell disease stem cell transplants have been successful. Despite the existence of all these methods, many parts of Africa lack access to routine screening and adequate control of sickle cell disease. Many children with sickle cell anemia die before the age of five. (1) The WHO has called for the strengthening of national disease control programs.
We believe that building biobanks in Africa such as cord blood banks and other types of tissue biobanks can play a role in combating non-communicable diseases including sickle cell disease.
Modern humans originated from the African continent. The genetics of Africans is very complex compared to other populations because of the age of the population. (2) For example, a comparison of two South African individuals shows that their genomes are more different than a comparison of an Asian to a Caucasian. (2) The study of the genetics of Africans can help scientists to better understand evolution, migration out of Africa, and the genetic basis of non-communicable diseases.
The uniqueness of African genetics can also be used for personalized medicine to develop therapies and medicines that work better in Africans. (2) In order to advance personalized medicine, more Africans should donate samples to biobanks. Biobanks are facilities that store and catalogue human cells and tissues in very cold freezers for future use. Many types of samples can be stored in biobanks including: nucleic acids, cancer biopsies, blood, saliva, skin, and stem cells. Stem cell biobanks especially have very broad applications because, depending on the type of stem cell, they can potentially be converted into different types of tissue that have therapeutic and drug discovery applications.
Cord blood banking is a type of stem cell biobank. It is a rich source of stem cells for therapy and has found uses in the treatment of cancers and genetic disorders including sickle cell disease. (2) Quite recently there is a new type of stem cell technology called induced pluripotent stem cells (iPSCs). These iPSCs can be made from small samples of living human tissue such as skin, blood and even cord blood. These small samples are then converted to iPSCs in the laboratory using genetic engineering. The iPSCs are very special because they have properties called self renewal and pluripotency. Self- renewal is the ability to grow indefinitely in culture therefore the cells can be stored for future use. Pluripotency is the ability of the cells to be converted into almost all cell types in the body.
Biobanking should be promoted and adopted on the African continent so that there will be samples available for the development of therapies and drugs that are optimized for Africans. However, there are very few biobanks in Africa now. There currently are only two private cord blood banks with laboratories in Africa, both located in South Africa. More people would benefit if cord blood banking was available in more African countries. Africa needs public cord blood banks too, where presently there are none. In private cord blood banks, parents pay to store the cord blood from their newborns to be used by their children or relatives in the future. Although this is a good idea it is limited to people who can afford to store the samples. In public cord blood banks parents donate cord blood so that anyone who needs it can use it even if they are not related. The parents do not pay to donate to a public bank and a repository of African cord blood units would make it easier for patients of African descent to find genetic matches.
There are a number of challenges to overcome in building more biobanks in Africa. Many governments may feel that in light of existing priorities to cope with the burden of communicable and non-communicable diseases on the continent, that building biobanks for Africa is a low priority. However, we argue that building these forward thinking biobanks can actually be integrated into the existing health agendas as a form of primary prevention. Another challenge for Africa is that there are not very many scientists and doctors with expertise in the field of biobanking and stem cells, and many countries have poor infrastructure such as irregular electricity to support scientific innovation.
Africa need not stand alone in this effort. Collaborations should be encouraged with institutions around the world, such as California’s CIRM, that are dedicated to advancing medicine via stem cell and genomics research. In our lab at The Scripps Research Institute, we are working to establish an ethnically diverse iPSC biobank. This effort started with seed funding from the Bill and Melinda Gates Foundation. Two years ago we generated the first African (Yoruba) iPSC line. (3) We have also generated and biobanked dozens of fibroblast and derived iPSC cell lines from individuals of various ethnic backgrounds.
Human Heredity and Health in Africa (H3Africa) is a large scale effort funded by the US National Institute of Health and the UK Wellcome Trust to fund genomic projects and biobanks on the African continent. The vision of H3Africa is to create and support state of the art research laboratories in Africa, run by African scientists. The H3Africa initiative has already funded pilot two pilot biobanks on the continent, one in Nigeria and another in South Africa, and they plan to fund a few more. These biobanks will store all types of human samples, derivatives from them such as DNA and RNA, and there are plans to convert some of the samples to iPSCs.
The ultimate goal of building biobanks in Africa is to study the role of genetics in disease susceptibility and adverse drug reactions, to further development of better drugs and vaccines for use in the developing world. (3)
- World Health Organization [cited]
Fakunle, ES 2012; Trends in Molecular Medicine 18(12):695-699
iPSCs for personalized medicine: what will it take for Africa?
Fakunle ES, Loring JF. 2012; Trends in Molecular Medicine 18(12):709-16.
Ethnically diverse pluripotent stem cells for drug development.
ZACCAF call for proactive fight of Sickle Cell Disease
Sickle Cell Disease (SCD) is a major genetic disease in most Sub Sahara countries although not much attention has been given to the systematic caring of the affected children. In Zambia more investment has been put in other communicable diseases compared to this non-communicable disease. This becomes a great concern especially that SCD has been claiming many lives of children just like other diseases. This is partly why the Zambian Childhood Cancer Foundation ZACCAF came to be. ZACCAF is a parent organisation that aims at providing holistic care to children with cancer and life threatening blood disorders and also their families through practical and psychosocial support programmes.
I am a founding member of ZACCAF. I lost my two brothers because of SCD and I am a parent of a child with SCD. We believe that parents should get more involved in the advocating, networking and mobilizing of resources and ensuring that there is optimum care for children with SCD.
The firsthand experience as a child and as parent makes me believe that with supportive policies, Sub-Sahara can do better in the caring of children with SCD than we do. My son has been on hydroxyurea, penicillin, and folic acid. This has improved his life style with very few crisis occasions. This proves that if all our children have access to treatment and good nutrition, this can help in managing SCD.
The aim for the ZACCAF Sickle Cell Programme is to create awareness, education, resource mobilization, and advocate for best health care services in Zambia. ZACCAF believes that children should be diagnosed as early as possible for better management of the SCD. It is also vital for every young person to know their Sickle Cell Trait Status too.
ZACCAF has identified three most affected areas in Zambia where we intend to start screening, counseling, and providing variable managing medicines like hydroxurea to children. We have further collaborated with local hospitals including the Zambian Italian Orthopedic Hospital and an international parent organization, Cure2Children, in moving towards the establishment of a bone marrow transplanting facility.
We believe as parents that severe SCD is a crisis that requires a permanent solution: bone marrow transplant. This is an expensive exercise. However we believe that it is better to deal with the problem once and for all than having to deal with it each and every day for the rest of one's life. Cure2Children is an international organisation which has been involved in the treatment of children with thalassemia using the bone marrow transplant procedure. They have been successful in Pakistan, India and Iraq. Their board member Dr. Lawrence Faulkner visited Zambia at the beginning of the year to do the feasibility study in Lusaka. It will cost around US$ 15,000 for one procedure; this includes salaries, tests and also the operation for each child. Cure2Children gives a subsidy to few patients; we need to secure other funds as a local organisation to sustain the programme.
ZACCAF has very little resources but at the same time believe in the difference we are already making. It is therefore my appeal to every concerned generous person, company or organisation to consider funding our programmes, with the focus of saving lives of children and giving them the right to live a normal life thereafter.
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