I've fumbled around on twitter quite a bit over the last year and a half. At the end of my twitter profile I put "proud female bleeder". This seems to be my greatest sense of joy while it seems to be the confusion causer for everyone else.
"What do you mean female bleeder... All females bleed!"
"What are you a hemophilac or something?"
"Women can't have hemophilia"
"How could you be a hemophiliac, you look like everyone else."
"Oh my god, you'll die from a paper cut"
With those comments flat out there, I'd like to move on.
What is exactly is Hemophilia?
Hemophilia is a categorized as a “bleeding disorder”. Bleeding disorders are characterized by strange abnormalities such as prolonged or not clotting during internal, external, and brain bleeding episodes. Most hemophilia cases are classified as “Hemophilia A” or “Hemophilia B” however there are other that are categorized as “Hemophilia C” or “Single Factor Deficiencies”. Most cases are Hemophilia A (80%) or classic Factor VIII deficiency. Hemophilia B (20% of cases) is commonly called “Factor IX Deficiency” or “Christmas Disease”. There is less than 1% of cases of Hemophilia C. In this 1% there are several other deficiencies such as Factor VII and vWF (Von Willebrand’s).
So how can I find out if I have it?
Many hemophiliacs have to be tested in order to determine the cause and type of their factor deficiency. Standard blood tests such as PTT and PT are performed. Partial thromboplastin time or PTT looks at how long it takes for blood to clot. PT or Prothrombin time (PT) measures the amount of time it takes for the plasma of your blood to clot. Plasma clots by fibrinogens which are triggered by the other chemicals. However the effectiveness of fibrinogen to clot is determined by the amount of clotting factors a person has. In my case, the PTT was normal however my PT times were off.
What exactly are the causes of Hemophilia?
Most commonly Hemophilia inherited on the X chromosome. It’s found as an X-linked recessive gene. In Hemophilia A the F8 gene is responsible, where as, mutations in the F9 gene cause hemophilia B. In my case, my Factor VII deficiency is located on the 13th chromosome subsection 13q34. Other causes of Hemophilia are mutations to the chromosomes that carry the corresponding genes. One interesting fact is that Factor 7’s section is near the gene code for cystic fibrosis.
So what exactly are the Symptoms?
Almost all types of hemophilia have the same symptoms. Common internal bleeding show as blood in the urine commonly called “hematuria”. Hematuria is usually from bleeding in the kidneys or bladder. Bloody stools from Gastro-Intestinal bleeds; bleeding into the intestines or stomach. Most commonly found are large bruises from bleeding into the large muscles of the body.
External bleeding is one of the most obvious symptoms of Hemophilia. External bleeding. Most patients point out that they have usually have excessive bleeding in the mouth from a cut or bite or from cutting or losing a tooth. This is usually one of the most common pointers towards a clotting disorder. Nosebleeds for no obvious reason is another common one. Most of my epistaxis attacks when I was younger helped confirm the diagnosis. Bleeding from a cut that resumes after stopping for a short time was another give away for my F7d diagnosis.
The most serious type of bleeding is Brain bleeds. They are usually caused by trauma such as bumps or car accidents. Brain bleeds or cranial hematomas usually present as long-lasting, painful headaches or neck pain or stiffness with repeated vomiting, sleepiness or changes in behavior, sudden weaknesses, clumsiness of the arms or legs, double vision, and convulsions or seizures.
People with hemophilia are just like everyone else. We walk, talk, breathe, eat, play, just like normal people do. We won't die from a papercut or a nosebleed. We're just like you, except we bleed a little longer.
Hemophilia isn’t a curable disease however they have recombinant factors to replace or increase the factors that the person is missing via IV. Recombinant factors are vials of the missing factor in a dried powder for. The reconstitution happens directly in the vial when you need to use them. Novo- Nordisk is the main manufacturer of the recombinant factor 7. I know with my surgeries they had to mix up something called “Novo7”. However, they have something called “Novo-7 RT” which is the room temperature activated version of the factor 7 concentrate. Other treatment includes transfusions of FFP (fresh frozen plasma) and clotting factors.
I’ve always been an athlete. I’ve played more sports than I can count. However the hardest part of the diagnosis is now learning my new limits. No more contact-y sports such as hockey, football, karate. Giving up sports is one of the hardest things for me; Sports have had a huge impact on who I am. They enable me to test, challenge, and improve myself. Giving them up would be a shattering event. Since they confirmed my F7d, they’ve limited me in gym class. I had several classes I wanted to take such as floor hockey or GAMES, instead I spent my gym periods with the freshman, in a less competitive volleyball class. I loved the feeling of proving myself in gym, it’s not there now. Instead I have to watch for bleeding episodes and bruises now.
For most of my life I have had always been that rough and tumble kid; I’d purposely throw myself full force and wholeheartedly into something. I’d ignore what my body would tell me, always pushing it to the limits. I’d come home covered in cuts and scrapes, bruises and sprains, taking what would be ages to heal.
I’m still an athlete, I’m still that dorky and socially-awkward person, I’m still ME. My diagnosis doesn’t define who I am; It defines what makes me unique.
I believe that disorders and disease should not limit you; YOU ARE NOT YOUR DIAGNOSIS. YOU ARE YOUR PROGNOSIS. Do what you love, and love what you do, it's that simple.
