Personal Story: Maya

Maya's story

Hemophilia A (factor VIII [8] deficiency) has been on my mother's side of my family for three generations. I first learned about hemophilia when I was 5 years old, when one of my male cousins was diagnosed. I didn't understand the condition; all I knew was that he needed to be careful because he could bleed a lot if he injured himself. One of my uncles died due to bleeding complications. I also remember my grandmother telling me that her cousins would spontaneously bleed (a bleed that occurs without any clear cause) from their eyes, nose, and mouth.

My brother was diagnosed with mild hemophilia A when he was 2 years old. My mother first became concerned when she noticed that my brother had a lot of bruises. One day, he had a big hematoma (a bad bruise that happens when an injury causes blood to pool under the skin) on one of his cheeks. She asked his pediatrician to test him for hemophilia, and it was confirmed that he had the bleeding disorder. One of the scariest moments was when my brother was 3 years old, and he got a small cut on his upper lip and began to bleed. The bleeding didn't stop for 3 hours.

I wanted to know if I was a carrier of hemophilia, so I took a genetic test when I was 24. The test was positive. This meant that I inherited one gene for hemophilia and can pass it on to my children in the future. Because I also inherited one gene without a hemophilia mutation, it was assumed that I would not have hemophilia myself. My mother is also a hemophilia carrier, and my sister, who sometimes had heavy nosebleeds, was diagnosed with mild hemophilia A when she was 13 years old.

I didn't have bleeding problems for most of my life. I had my appendix removed and four molar tooth extractions and never considered my bleeding to be "severe" until I stopped taking birth control. At that point, I started to have heavy menstrual bleeding that slowly became heavier with time. Doctors told me it was normal. I started to see a hematologist-oncologist, a doctor that specializes in both blood disorders and cancer. I do not have cancer, but sometimes people see a hematologist that specializes in blood cancers before they see a hematologist that specializes in non-cancer bleeding disorders. The doctor diagnosed me with a different bleeding disorder, von Willebrand disease (VWD), in addition to being a hemophilia A carrier. I received medication, but unfortunately it did not work for me.

My heavy menstrual bleeding caused anemia (when your body doesn't have enough red blood cells) to worsen. I tried going back on birth control and even tried different brands, but nothing worked. I saw about seven gynecologists and a different hematologist-oncologist, but I thought no one understood what I was dealing with.

In 2019, I lost my job as a teacher. Because my anemia was borderline severe, it was very difficult to get another job. I was constantly exhausted and sick, had difficulty breathing, and had other symptoms caused by the anemia. I decided to become a substitute teacher and dedicate more time to researching my condition. It felt like I was dying every month during my period because I bled so much. The only option I was given was a hysterectomy (a surgical procedure to remove the uterus).

In early 2020, I finally found a great primary care doctor and a different hematologist-oncologist who had no experience with my condition but was willing to help me. With the help of these doctors, I was diagnosed with uterine fibroids (small noncancerous growths in the uterus). I was also re-diagnosed with mild hemophilia A, not VWD. Unfortunately, my bleeding became worse later in the year, to the point where I was losing about 850 to 1000 mL (about 3.5 to 4 cups) of blood during my period. (For reference, women who do not have heavy menstrual bleeding typically lose about 2 to 3 tablespoons of blood during their cycle.)

I was given two different medications to try. One helped lessen the bleeding, but I had to take it in small doses because of the risk for side effects at higher doses. The other medication was not helpful and was later recalled. I was also put on bed rest during my period. Finally, in October 2020, I had surgery to remove the fibroids, and I received medicine called clotting factor for the first time to prevent bleeds from occurring. Today I can happily say my menstrual bleeding has decreased to 300 to 400 mL (about 1 to 1.5 cups), and my periods are significantly less painful. I am forever grateful to my doctors for pushing and helping me get the treatments I needed. After 6 years of fighting, I finally felt like things were going to be better.

My hematologist-oncologist referred me to a hemophilia treatment center (HTC), and I have been amazed with the treatment I've received. Now, I have a great hematologist and I have learned my correct diagnoses are both mild hemophilia A and mild VWD. My hematologist also sent me to a rheumatologist (a doctor who specializes in treating arthritis), and as of May 2022 I have also been diagnosed with two additional rare conditions: hypermobility spectrum disorder (HSD) and mixed connective tissues disorder (MCTD).

I feel like I'm slowly getting my life back. I'm learning to work with my conditions and listen to my body. I still face many challenges as these invisible, rare conditions make everything difficult, especially finding doctors who can treat me and navigating the complicated insurance world. I have not been able to return to full-time teaching and may never be able to because taking care of a classroom is too challenging with my diagnoses. I'm glad I can still work in a school, and I'm able to provide assistance to students and their families.

I believe what kept me going all these years was the fact that I knew there was help out there, I just had to find the right doctors. I have learned that it is important to work with doctors who might not be experts in your disorder but who are willing to help you. Being part of support groups and sharing my story with other women has also been very important to me. Not staying silent, and advocating for myself, has been the key to getting better.

CDC thanks Maya for sharing her story.