CHILDREN WITH DISABILITY: HAEMOPHILIA
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What is Haemophilia?
According to RPWD Act , 2016 "haemophilia" is an inheritable disease, usually affecting only male but transmitted by women to their male children, characterised by loss or impairment of the normal clotting ability of blood so that a minor wound may result in fatal bleeding.
Clotting factors control bleeding by helping the body form a clot. Our bodies have 13 clotting factors that work together to clot blood. Having too little of factors VIII (8) or IX (9) is what causes haemophilia. The two main types of haemophilia are haemophilia A and haemophilia B. Haemophilia A, which is more common, happens when there isn't enough factor VIII. Haemophilia B is when there is too little factor IX.
2. Identify the problem
Common signs of haemophilia include:
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Bleeding into the joints. This can cause swelling and pain or tightness in the joints; it often affects the knees, elbows, and ankles.
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Bleeding into the skin (which is bruising) or muscle and soft tissue causing a build-up of blood in the area (called a hematoma).
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Bleeding of the mouth and gums, and bleeding that is hard to stop after losing a tooth.
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Bleeding after circumcision (surgery performed on male babies to remove the hood of skin, called the foreskin, covering the head of the penis).
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Bleeding after having shots, such as vaccinations.
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Bleeding in the head of an infant after a difficult delivery.
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Blood in the urine or stool.
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Frequent and hard-to-stop nosebleeds.
A person with haemophilia face different challenges physically, mentally and socially. The consecutive bleeding episodes result in pain, prolonged headache, repeated vomiting , sleepiness orlethargy, double vision, sudden weakness or clumsiness, convulsions or seizures etc. The mental challenges includes low self-autonomy because he needs assistance with self-care when joint damage, fear that he may have a bleed that cannot be stopped and embarrassment that he is unable to compete with other men in sports, personal relationships, and physical appearance. Sometime the social interactions also get affected due to the disease.
3. Individual Challenges
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Higher incidence of infections, inflammation and painful episodes.
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Higher incidence of transfusion transmitted infections like Hepatitis B, Hepatitis C and HIV.
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Repeated hospital visits for treatment or monitoring. Travel for adequate/proper treatment.
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Even routine activities require micro planning according to health conditions, next hospital visit, or sudden crisis. Lifestyle is severely restricted and several activities are curtailed. This affects the whole family.
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Mental health could also be affected.
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Loss of work days (education, employment or business).
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Because of anaemia, pain crisis, infections, hospital visits etc. they miss schools (may be exams too) so they have difficulty competing with their peers.
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Repeated hospital visits, anaemia, infections, pains also restrict their extracurricular activities and socializing. This further barricades their life.
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For higher education or better job prospects one has to move away from home town. Maintaining health with such a challenging treatment at a new place is extremely difficult to manage.
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Treatment is very costly and not affordable by even upper middle class families.
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Social stigma is a big issue.
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Life expectancy always hovers the minds of affected persons and family.
4.Institutional Challenges
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Time Flexibility: A person may need adjustment in work timings, for treatment and related issues, which should be provided.
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Extra Leave: A person may need extra leave (over and above what is entitled) for anaemia, pain crisis, infections, hospital visits etc.
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Relaxation in Attendance: Schools and colleges should provide relaxation in attendance and should not prevent a student with blood disorders from writing exams if the student does not meet the required attendance. If a student is unable to write an exam on a particular day, she / he should be given reexamination on another day.
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Extra time for exams and assignments (compensatory time): Some people may need to take breaks due to pain or other reasons related to their disability and hence may need extra time to complete their exam paper, which should be provided.
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Financial assistance for the affected person/caregiver to meet the medical expenses.
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Inclusion in extracurricular activities: Some people may have difficulty participating in certain physical activities and they could be exempted. However, this should not lead to the student feeling left out. Some precautions can be taken in consultation with the person/parent, to make the activity safe for them. Inclusive extra curricular activities can also be planned.
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Ensuring no bullying/harassment at school/college/workplace: Organizations/schools/colleges should create adequate awareness so that there is no stigma and there is inclusion in all aspects of school/college/work/ social life. There should be policies to ensure zero tolerance for bullying/harassment/discrimination.
5. Treatment Process
Many people who have or have had family members with haemophilia will ask that their baby boys get tested soon after birth. About one-third of babies who are diagnosed with haemophilia have a new mutation not present in other family members. In these cases, a doctor might check for haemophilia if a newborn is showing certain signs of haemophilia.
To make a diagnosis, doctors would perform certain blood tests to show if the blood is clotting properly. If it does not, then they would do clotting factor tests, also called factor assays, to diagnose the cause of the bleeding disorder. These blood tests would show the type of haemophilia and the severity.
The best way to treat haemophilia is to replace the missing blood clotting factor so that the blood can clot properly. This is done by infusing (administering through a vein) commercially prepared factor concentrates. People with haemophilia can learn how to perform these infusions themselves so that they can stop bleeding episodes and, by performing the infusions on a regular basis (called prophylaxis), can even prevent most bleeding episodes.
Good quality medical care from doctors and nurses who know a lot about the disorder can help prevent some serious problems. Often the best choice for care is to visit a comprehensive Haemophilia Treatment Center (HTC). An HTC not only provides care to address all issues related to the disorder, but also provides health education that helps people with haemophilia stay healthy.
6. Myths and Facts About Haemophilia
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Myth: If a person with haemophilia gets a cut, he’ll bleed to death.
Highly unlikely. People with haemophilia do not bleed any faster or harder than those without the disease, they simply bleed for longer.
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Myth: Haemophilia affects only boys.
While most people assume haemophilia only affects boys, occasionally girls who are “silent carriers” can suffer bleeding symptoms as well. Though extremely rare, a daughter who is born to a father with haemophilia and a mother who is a carrier can actually inherit the severe form of the disease.
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Myth: Everyone with haemophilia has the same level of deficiency.
Nope. Depending upon the specific genetic change or mutation in a given family, the severity of the deficiency or level of clotting factor in the blood varies from a severe deficiency to moderate to more mild forms of the disease.
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Myth: All forms of haemophilia involve a deficiency in clotting factor VIII.
Not true. Haemophilia A (also known as Classical Haemophilia and Factor VIII Deficiency Haemophilia) is the most common and is a deficiency in clotting factor VIII. However, Haemophilia B (aka Christmas Disease and Factor IX Deficiency Haemophilia) is—you guessed it—a deficiency in factor IX. Haemophilia C occurs from a lack in factor XI.
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Myth: Patients with haemophilia always have a family history of the disease.
A very important false, The gene defect responsible for haemophilia has oneof the highest rates of spontaneous brand new mutations of any human genetic disorder. Some researchers estimate that as many as one-third of the cases of haemophilia are new mutations with no family history of the disease.
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Myth: It’s ok to wait until one sees something and really knows it’s a bleed before acting.
Act immediately because especially in brain trauma it can be life and death, When in doubt, treat and then get it checked out.
7. New Technology
Haemophilia is a congenital hemorrhagic disease caused by genetic abnormalities in coagulation factor VIII or factor IX. Current conventional therapy to prevent bleeding requires frequent intravenous injections of coagulation factor concentrates from early childhood. Accordingly, gene therapy for haemophilia remains an exciting future prospect for patients and their families, due to its potential to cure the disease through a one-time treatment. After a series of successes in basic research, recent clinical trials have demonstrated clear efficacy of gene therapy for haemophilia using adeno-associated virus (AAV) vectors. Although this is likely to alter the paradigm of haemophilia care in the near future, it will be important to overcome immune responses against AAV. Gene therapy for haemophilia cannot be given to patients with anti-AAV capsid-neutralizing antibodies, and cellular immunity with CD8+ T cells should be controlled for sustained expression. Furthermore, long-term therapeutic effects should be closely observed because of the failure of the AAV vector genome to replicate during cell division.
8. Our Role
There is no way to cure hemophilia, but there are ways to reduce the risk of excessive bleeding and to protect joints. These include: regular exercise, avoiding certain medications, such as aspirin, nonsteroidal anti-inflammatory drugs, and heparin, which are blood thinners, practicing good dental hygiene. We can provide awareness for the patients. Help them to build self esteem through different activities, strengthen their mental ability, remind them about regular check up etc.
9. Reference
At present only seven medical centres in Kerala — Government medical colleges in Thiruvananthapuram, Kozhikode, Thrissur, Kottayam, and Alappuzha besides District Hospitals at Aluva and Malappuram — provided haemophilia treatment.
Hemophilia Society
Kunnamkulam Chapter
Akkikavu P.O, Karikkad Via
Thrissur District
Kerala - 680 519
+91-04885-283357, +91-956-242-8471
Hemophelia Treatment Centre , Aluva
Contact no: 0984725956
Hemophilia Society Of Kerala
Kowdiar, Thiruvananthapuram, Kerala 695003