1. Hemophilia is an X chromosome genetic mutation. That's why girls are carriers. We have another X to make up for the affected X. (There are exceptions, but it's complicated) Boys don't. So, a mom that carries the gene (ie: me!) has a 50% chance of passing on the gene with every pregnancy. Dads who have hemophilia will never pass it on to their sons since their sons get their Y chromosome. However, all their daughters will be carriers since they get his X chromosome, and the affected X is the only one he has to offer.
2. It is very nice for a hemophilia mom to spend the evening at the salon (via birthday money) after an exhausting day at clinic with all the children. . . ;o)
3. The most common hemophilia gene mutation is "22 inversion". All the right information is there, but inverted in a section of the X chromosome. Therefore, the information that is there cannot communicate to get the job done (in this case: make factor 8!). This is the gene mutation in our family.
4. When you have a child with hemophilia, everyone is affected. We are not just a family of 7 with 2 hemophiliac boys. Our family has hemophilia. We may not all have it in our bodies, but we have it in our family, and we deal with it everyday. We are all in this together! :o)
5. When my Dad was a young boy in the 1940s and 1950s, most hemophiliacs didn't make it through their teen years because the only treatment was whole blood transfusions. Their was no preventative treatments. The few that did survive, suffered major bodily harm from their bleeds, and their bodies are mangled, but they're probably some of the strongest men you'll ever meet. The most impacting thing for me is to hear these men speak of the different life their grandsons have now that they have factor. (Based on the film,"An Unexpected Life. Living with Hemophilia." Presented by the Alta Bates Summit HTC)
6. To make a clot, our bodies make a platelet plug, then a fibrin clot to hold it all together. Hemophiliacs make the platelet plug, but not the fibrin clot. With little cuts and scrapes, the platelet plug is sufficient, but sometimes not when they are in the mouth. Saliva breaks down the platelet plug, and makes a lot of trouble! So, there is a liquid medicine called "Amicar" that is available to help. Amicar prevents the saliva from breaking up the platelet plug. Sometimes, this is so effective, factor is not needed! Yay for Amicar!!! :o)
7. What are the leading causes of bleeds for a little hemophiliac during childbirth? forceps, vacuum, internal monitor
8. How does factor work during a joint bleed? Blood starts entering the joint capsule. It fills up with blood. The factor helps the bleeding stop. Digestive enzymes eat away the blood, but also eat away at the cartilage and bone. Once a joint has had a bleed, it will always be more susceptible to getting more bleeds.
9. One of the greatest threats to hemophiliacs today is an inhibitor. An inhibitor is when their body starts rejecting the factor it needs so badly. When this happens to a factor 8 deficient person (hemophilia A), they are treated with factor 7 until the inhibitor is resolved. Clotting factors work like dominoes, and factor 7 is a good plan b for factor 8 deficient hemophiliacs because it allows clotting to skip a step. It is not easy. You have to infuse the factor 7 a lot more often than factor 8. Sometimes it takes a very long time for an inhibitor to go away.
10. Did you know that the worst position to give birth is lying on your back*? This position reduces the size of the pelvis by up to 30%!! This is especially dangerous for babies with hemophilia since that would threaten the use of vacuum or forceps if the baby appeared to be "stuck", and those interventions are the leading cause of headbleeds for newborns with hemophilia. Get off your backs, ladies! ♥
*There are exceptions to this. Sometimes, a woman's pelvis is shaped in a way that consistently causes back labor, and lying on her back is the only way to get the baby to turn.
11. Carriers of hemophilia have varying factor levels. Sometimes their factor level is well within the normal range. Sometimes it is the low end of normal. Sometimes it is so low they qualify as mild hemophiliacs. Rarely, it is low enough to qualify them as severe hemophiliacs. I thought this wasn't possible until I met a girl with severe hemophilia. The explanation for this is in how the chromosomes split and multiply soon after conception. Another interesting fact is that carriers typically have elevated factor levels while nursing or pregnant. Since I have been nursing and/or pregnant for the last 8 years, I don't know what my regular factor level is. When I was tested while nursing Eli and again while pregnant with Malakai, it was 90% (within normal range). When I was in my 3rd trimester with Silas, it was 190% (high end of normal). Ana was tested and her level was 44%. Normal factor level is anywhere within 40%-200%. I can tell you that I used to bruise a lot more than I do now!
12. When a person is having a bleed it feels like burning, swelling, sharp pain, or bubbles/tingling. Other descriptions include: "when a joint swells up with blood it is like having cement in there causing you not to be able to move"
13. It is super fun to launch caps off of empty syringes after prophy. . . ;o)
14. When you have a child with hemophilia, you no longer take it for granted when you actually can just "kiss it and make it all better" with a non hemo child or a minor injury with a hemo child. ♥
15. "Hemophilia is a genetic bleeding disorder that prevents the blood from clotting normally. The main symptom is uncontrolled, often spontaneous bleeding. Internal bleeding into the joints can result in pain, swelling, and, if left untreated, can cause permanent damage.' -Jennifer Grizzard Smith
