Hemophilia and Kadyn

The story of Cheryl

What Hemophilia is : a group of hereditary genetic disorders that impair the body’s ability to control blood clotting, which is used to stop bleeding when a blood vessel is broken. Haemophilia A (clotting factor VIII deficiency) is the most common form of the disorder, present in about 1 in 5,000–10,000 male births.[2] Haemophilia B (factor IX deficiency) occurs in around 1 in about 20,000–34,000 male births.

Like most recessive sex-linked, X chromosome disorders, haemophilia is more likely to occur in males than females. This is because females have two X chromosomes while males have only one, so the defective gene is guaranteed to manifest in any male who carries it. Because females have two X chromosomes and haemophilia is rare, the chance of a female having two defective copies of the gene is very remote, so females are almost exclusively asymptomatic carriers of the disorder. Female carriers can inherit the defective gene from either their mother or father, or it may be a new mutation. Although it is not impossible for a female to have haemophilia, it is unusual: a female with haemophilia A or B would have to be the daughter of both a male haemophiliac and a female carrier, while the non-sex-linked haemophilia C due to coagulant factor XI deficiency, which can affect either sex, is more common in Jews of Ashkenazi (east European) descent[3] but rare in other population groups.

Haemophilia patients have lower clotting factor level of blood plasma or impaired activity of the coagulation factors needed for a normal clotting process. Thus when a blood vessel is injured, a temporary scab does form, but the missing coagulation factors prevent fibrin formation, which is necessary to maintain the blood clot. A haemophiliac does not bleed more intensely than a person without it, but can bleed for a much longer time. In severe haemophiliacs even a minor injury can result in blood loss lasting days or weeks, or even never healing completely. In areas such as the brain or inside joints, this can be fatal or permanently debilitating.
My Sons Story: Kadyn has Severe Hemophilia A, indicated by active Factor VIII levels less than 1 or 2%. He was first diagnosed at age 6 months and this will be his fight all his life. At age 1 year he had his first GI bleed which placed him in the hospital. In March he had a port placed in his chest to help us infuse him. As of now, we infuse him three times a week. He is was 3 ½ years old we found out that his port has a leak in the line, so we have to have surgery again to take out the old port and place a new one in.