Will we be forced to see Jovan pass away?

Received a disturbing call from Augustine (Jovan's father) in the morning as I was leaving for office.

He called with the news that Jovan will be admitted to the hospital again on Monday, 21st April. His head wound has not healed and they will need to open him up again. This time round, the availability of factor is very crucial. To compound matters, his type is not identified, though from the fact that he responded to cryoprecipitates would indicate type 'A'.

With some progress in respect to setting up the foundation, we are very far from realising our goal of identifying haemophiliacs, providing necessary support (including diagnosis and factors) - the foundation is not registered as yet. Progress made so far -

• we have reserved the name 'Haemophilia Foundation of Uganda', for 30 days, with the registrar
• we now have a P. O. Box number, in my personal name presently but will be handed over to the Foundation 9once it is registered)
• we have identified a newspaper that may print an article about haemophilia & the foundation in their paper
• I am meeting with lawyers today, to complete the paperwork for registering the foundation

Hope Jovan hangs on till we are able to do something.

Sewungu Augustine Jovan

I met Sewungu Augustine Jovan's father today and he is a Headteacher at St. Mary's Primary School, Kibuye - Makindye.

He is not sure of Jovan's haemophilia type, but from the fact that Jovan is being administered Cryoprecipitate whenever he bleeds, I think he is Haemophilia A, since cryoprecipitates donot work in Haemophilia B cases.

I have pasted Jovan's pictures (when he was hospitalised in March for a head bleed) and discharge report below. The family thought that they lost him. Wonder how they operated him without factors and pray that he is not infected with other ailments (in this country the chances of contracting HIV etc are really high).

Also, he has got a sister. When I asked the father whether she was checked for carrier state, he was surprised to know that female children can be carriers. So, awareness and education are going to be very important areas that will need working on.

Another good that came from the meeting is that Augustine will work for the Foundation, Since, he is involved with a teachers association and a headmasters association, we would be able to spread awareness about the Foundation through schools.

Through the schools and through Doctors, I think we should be able to unearth more families and haemophiliacs.

Patient (Sewungu J. Augustine) & we are growing in strength

There is progress, though we have not been able to yet get the Foundation going, due to the paucity of funds.

We have identified a patient, the second in Uganda, the first being my son, Adwaiy.

Sewungu J. Augustine is a seven year old boy and he is haemophilic but the type of haemophilia is not yet determined.

While I feel somewhat fulfilled by finding him and knowing that the work is going to be meaningful, I am saddened to know that support here in Uganda is so pathetic that his type is not identified. Imagine living for 7 years without knowing exactly what the condition afflicting you is. How lucky Adwaiy is, by being born in India. At least, we know what afflicts him and we can provide care.

Sewungu's father is a primary school teacher and will drop by tomorrow. Hopefully, I should then have a photograph to put on the blog.

One the brighter side, we have found new people who will join hands - Dr. Henry Ddungu, Haematologist at Mulago and Winnie Nuwamanya, Occupational Hygienist with the Ministry of Labour.

Hopefully, we can have the HFU going soon so that other Sewungus could be unearthed and supported.

Our journey, the birth of Haemophilia Foundation of Uganda and present status of Haemophilia Care in Uganda

This is going to be a mixed bag, since I am new to blogging. However, I hope that I have succeeded in honestly portraying the essence of our journey.

We (my family & I) came to Uganda in January 2008. Ever since we learned that our son was haemophiliac, his care was always the number one concern that needed to be addressed while making any decision. Deciding to relocate to Uganda was hence put through the scanner. One of the initial apprehensions I had was whether my son would get medical support for his condition here. This lead to research which, in turn lead to the knowledge that there was no Haemophilia Society here. Before reaching Uganda, all we were interested was in making sure that our son got the support he needed.

Then, I started writing to each and every e-mail i.d. I could lay my hands on, requesting support. The majority did not bother to respond, some did but professed inability to help, a few could not help but directed me to others who they thought could help.

In the process, January came and we flew to Entebbe. The first thing to hit us was the beauty of this country. Slowly, the stark poverty also became very evident. The thought of a Haemophilia society for Uganda grew roots and before we knew it, it consumed us.

After about six months (I started in October 2007, when we decided to relocate), in February 2008, I saw a blog by Laurie Kelly, who heads the Kelley Foundation, where she recounted her experience while helping set up haemophilia society in Zimbabwe. Hoping to get a response, I posted a comment on her blog. Laurie is a great lady and a mother of a haemophiliac herself. She responded and then on things started moving, because we had someone to show us the way. Whatever good we may manage to do, kudos to Laurie.

Then, very apprehensively, I wrote to my alumni association. I feared whether people would believe, what the reaction would be as 20+ years ago - in college I was very different from what I am now, would they connect with the 'me now'?. Not that I think I am very mature or grown up now, but the University of Life teaches lessons that no College can ever teach.

Three people I have to mention here are -
1. Sudhir Suvarna, who is in Australia - Sudhir is the person who responded to my call on the alumni association and the one who created this blog and taught me to blog.
2. Manoj Nair, who is in Canada - he has been on chat with me since I wrote to the alumni, supporting me morally.
3. Shailendra Sinha, who I believe is in the US.

These three guys have promised to support and try to garner support for the Foundation.

Laurie, Sudhir, Manoj and Shailendra, mere thanks cannot portray your contribution, but I guess that's the only word in the English language. Thanks a lot! Without all of you, wouldn't I still be at sea?

I met with Dr. Nzaro, who heads the Haematology Department at Mulago Hospital in Kampala. Dr. Nzaro is 74 years old and looking forward to retire in June 2008. He has got loads of experience. He remembers having treated Hemophiliacs in the early 80s. After that, since they could not provide support, the number of patients coming to Mulago Hospital started dwindling and now there are none on their records. He says that since this country is plagued with Malaria, Meningitis, Ebola, etc., Haemophilia has lost its priority in the government's eyes.

I asked him whether Uganda warrants a Hemophilia Society since I wondered why nobody thought of a Society before. He is of the opinion that yes, we do need a Society and that when we start and once people are aware, there will be people coming forward.

Also, the acute need for diagnostic equipment is felt. They also have personnel at the level of technicians but not above that, meaning that hematologists are few.

Now to the brass tacks, for the project to be successful, we will need to go the whole way -
1. setting up the Society - will require its own office (for starters, my house will be the office), registration with the appropriate authorities (ROC, NGO board);
2. creating awareness in the country - reaching out to the Doctors in the country will help and getting the doctors themselves to write to the others will help;
3. make the product available here - getting permission to import the drugs here, etc.; and
4. distribution of the correct product to the correct people.

Inheritance patterns / Different types & levels of Haemophilia

Different types of haemophilia

Haemophilia A is often called classical haemophilia, and is the most common type of haemophilia affecting one in 5,000 males. Haemophilia A is due to a deficiency of factor VIII (factor 8).

Haemophilia B is often called Christmas Disease, named after the first person diagnosed with the condition. Haemophilia B is caused by a deficiency in factor IX (factor 9) and affects one in 30,000 males.

Both disorders cause bleeding into the joints, muscles and other soft tissues, as a result of trauma or injury. In addition bleeding often happens spontaneously in the severe type of the disorder. Because both types of haemophilia share the same symptoms and inheritance pattern, a blood test is the only way to identify whether someone has haemophilia A or B. It is important to know which factor is lacking, so that the correct treatment can be given.

Levels of haemophilia

Haemophilia A and B are classified as mild, moderate or severe. This depends on the level of clotting factor in the blood.

Mild haemophilia - Blood clotting levels between 5% and 25%.

Moderate haemophilia - Blood clotting levels between 2% and 5%.

Severe haemophilia - Blood clotting levels less than 1%.

Carriers - Carriers of the haemophilia gene can have average levels of clotting factor VIII or IX at 25% to 50% or even lower. Many carriers of the haemophilia gene will have normal factor levels (50% or above).

For example, someone with less than 1% of clotting factor in their blood is classified as having severe haemophilia.

Someone with mild haemophilia will usually have few problems and will generally only need treatment for their condition after tooth extraction, surgery or after an injury.

Someone with moderate or severe haemophilia can have bleeds after a minor bump or knock.

People with severe haemophilia have spontaneous bleeds as well as bleeds from trauma and injury. Spontaneous bleeding in moderate and mild haemophilia is rare. Frequent bleeding into joints, muscles and soft tissues is very painful and disabling.

Bleeding, particularly after a bad head injury, may be life threatening if not treated effectively.

One in three children with haemophilia is born into a family with no history of the condition.

Understanding how inheritance patterns work Haemophilia is a genetic condition

There is usually a history of haemophilia in the family, but one in three children with
haemophilia is born into a family with no history of the condition.

Very rarely, it is possible for someone to develop haemophilia. This is known as acquired haemophilia.

Haemophilia is a ‘sex linked recessive’ condition. This means that while only males have the condition, it is passed through the female line in the family.

It is rare for a female to inherit true haemophilia. For this to happen her father would have to have haemophilia and her mother would have to carry the haemophilia gene. Many females who are carriers of haemophilia can have very low clotting factor levels and show signs of
‘mild’ haemophilia.

The inheritance pattern can be difficult to grasp at first. But it is very important to understand it properly so that families with a history of haemophilia can get tailor-made advice and support.

How is it inherited?

The cells which make up our bodies are programmed with instructions from our mothers and fathers. These instructions are called genes and they hold the genetic instructions for life. The genes are carried on structures called chromosomes. Everyone has 46 chromosomes in their
body. Two of the chromosomes determine the sex of a baby. They are the X and Y
chromosomes.

Females have two X chromosomes (XX); males have an X and a Y (XY).

A child will inherit a chromosome from each parent. Males get an X chromosome from their mother and a Y from their father. Females get an X chromosome from each parent. The genes for clotting factors VIII and IX are on the X chromosome. There is no gene for clotting on the Y chromosome. Only one of the female’s X chromosomes can be affected by the faulty haemophilia gene.

In most inheritance family patterns, therefore, the other non-affected X chromosome compensates in the production of clotting factor VIII or IX.

Inheritance pattern if the mother carries the haemophilia gene and the father does not have haemophilia
• A male child will have a 50:50 chance of having haemophilia, as he will inherit one of his mother’s X chromosomes. If it is the faulty one he will inherit haemophilia.
• A female child will have a 50:50 chance that she will carry the haemophilia gene, as she will inherit an X chromosome from her mother.

Inheritance pattern if the mother is not a haemophilia carrier, but the father has haemophilia
• A female child will be a carrier, as she will have a normal X chromosome from her mother and the affected X chromosome from her father. Daughters of a man with haemophilia are known as ‘obligate carriers’; in other words, there is no way that they cannot be
carriers of haemophilia.
• A male child will not be affected, as he will inherit his father’s normal Y chromosome and his mother’s normal X chromosome. The son cannot pass haemophilia on to future generations.

Inheritance pattern if the mother carries the haemophilia gene and the father has haemophilia
• A female child can inherit haemophilia, but this is quite rare. Females do not usually have haemophilia because one of their X chromosomes works effectively. Some female carriers do
have reduced factor levels and may need factor replacement for surgery, tooth extraction or following childbirth.

The severity of haemophilia remains constant in a family. In other words, if there
is a family history of mild haemophilia, a carrier of haemophilia from that family can
only pass on a mild form of haemophilia.

It is possible for the haemophilia gene to remain hidden through several generations of a family if it has only been passed on to females.

The risk of having a child with haemophilia is the same for each pregnancy.

INHERITANCE DIAGRAM

Case A - Healthy Man & Healthy Woman

Man Woman
X Y X X
Male Child / Female Child will not have the gene.

Case B - Man with haemophilia & Healthy Woman

Man Woman X' Y X X
Female child will be Haemophilia carrier as she will inherit X' from Father (he can contribute only one X which is X') and normal X from Mother.

Male child will not have Haemophilia as he will inherit Y from the Father and normal X from Mother

Case C - Healthy Man & Carrier Woman

Man Woman X Y X' X Female child has a 50% chance of being a carrier, depending on whether X or X' is donated by Mother Male child has a 50% chance of being Haemophiliac, depending on whether X or X' is donated by Mother

Key facts: what is haemophilia?

Haemophilia is a blood condition in which an essential clotting factor is either partly or completely missing. This causes a person with haemophilia to bleed for longer than normal. Cuts and grazes are not great problems as a little pressure and a plaster are usually enough to stop bleeding. The main problem is internal bleeding into joints, muscles and soft tissues.

Haemophilia is a lifelong inherited genetic condition, which affects females as carriers and males who inherit the condition. About a third of new diagnoses are where there is no previous family history. It appears world-wide and occurs in all racial groups.

There are two types of haemophilia, the most common being haemophilia A, in which Factor VIII is lacking. In haemophilia B, Factor IX is lacking.

People with severe haemophilia can experience spontaneous bleeding usually into the joints. If left untreated these bleeds cause acute pain and severe joint damage leading to disability. Bleeding episodes have in the past caused difficulties with education and employment, as well as mobility problems for many who have been crippled by the effects of regular bleeding into joints.

Treatment for haemophilia is usually by replacement of the missing clotting factor. In severe haemophilia this is by injecting it on a regular basis (called prophylaxis) to help prevent bleeding. In mild or moderate haemophilia injections will be given at the time a bleed occurs (called on-demand therapy). Regular treatment by prophylaxis - 2 or 3 times a week - helps the blood to clot and minimises the likelihood of long term joint damage. Unfortunately, there is no permanent way of replacing or increasing the clotting factor level.

Before 1986, much of the clotting factor derived from donated blood had been contaminated. The haemophilia community across teh world has been severely affected by contamination of blood products leading to widespread infection of HIV and Hepatitis C. Tragically, over half of those infected have so far died and the emotional cost to bereaved families, who have lost sons, fathers and other relatives is a modern day tragedy.

Mission Statement

Vision:

A Uganda where –

1. Children suffering from Haemophilia are:
a) Free of pain and
b) Empowered to live a normal life so that they may grow into responsible citizens who will contribute to the country’s growth.

2. Families affected by Haemophilia are empowered to deal with the situation through education.


Mission:

The Foundation has as its mission:

1. To provide a fellowship for persons with haemophilia and similar conditions, for their families and those concerned in their health and welfare.

2. To promote the personal interest, treatment, rehabilitation, lifetime care, and advancement in life, of all people with haemophilia and related genetic bleeding diseases.

3. To provide up-to-date information and guidance, which promote effective measures of care.

4. To promote full participation and equal opportunity for all in community activities, education, recreation, and employment.

5. Advocate for adequate services to meet the needs of people with haemophilia.

6. To provide or seek individual assistance welfare, participation, opportunity, and advocacy.

7. To, where possible and within the means of the Foundation, financially assist persons with haemophilia and similar conditions needing such assistance.

8. To strive to facilitate adequate treatment facilities and access to safe products for the treatment of haemophilia at the best financial dispensation possible.

9. To provide representation, at a regional and national level, to ensure that adequate and safe supplies of treatment products, and other treatments or cares are available.

10. To act as a consultative body to Government.

11. To render its services in the Republic of Uganda.