By Denise Ruiz
My journey of living with hemophilia is much the same as, yet different than most in our community. Being adopted at just two weeks old, my parents would not have known the reasons behind my ailments and struggles.
As a somewhat clumsy child, I often found myself covered with bumps and bruises; scrapes and scratches always bled much longer than my peers. In puberty, I often had to stay home from school as my menstrual cycles were unbearable with pain and excessive bleeding.
My husband, Jon, and I married in 2004. In July 2006, our first child, Jacob, was born in Washington State. When Jacob was six months old, I took him in for a routine well-baby visit where he received a heel stick. Being in the military, my husband was gone for training as he was scheduled for deployment to Iraq the next month.
That night I put Jacob to bed as usual. When he woke in the early morning hours, I found his crib bedding covered in blood. Of course, I freaked out – just 22 years old, by myself, with a bleeding baby. Unfortunately, my husband was not able to come home.
At the hospital, the wait for an answer was excruciating. The doctor asked if I had ever been tested for hemophilia. In fact, I had never even heard of it before that moment. Sure enough, Jacob was diagnosed with severe factor IX deficiency. Terror set in, and I immediately began researching what it meant. I was alone and terrified, and it was just the beginning.
Since my husband was going to be gone for a while, we felt it would be best that I move near my parents in California to have help with the baby. My husband ended up being in Iraq for 15 months. I was very fortunate and grateful to have the support of my family during that time.
The following year, it was decided Jacob would have a port placed so he could begin factor replacement three times a week, which I learned to administer at home. For someone with severe hemophilia, I feel Jacob has had a fairly fortunate childhood. With dedicated prophylaxis, he has experienced only a handful of joint bleeds and just one hospitalization due to a fall down a set of stairs.
When Jacob was diagnosed, I was tested as well and found to have 27% factor IX level. The reason for my own symptoms throughout my childhood became clear. I now treat as needed and certainly for any medical procedures.
When Jacob was 4-years old, we welcomed our daughter, Cora – the first of three girls. Ava and Emma followed. Cora is diagnosed with mild factor IX deficiency and is a carrier. Ava and Emma are not affected. My fifth and last pregnancy resulted in the birth of our crazy, comical, wild-child, Brody! At the time, we were stationed in Hawaii, and Brody was born in May, just weeks after COVID-19 paralyzed our country.
Almost from the start, Brody did not fare as well as his older brother. Toward the end of my pregnancy, I was 37 years old and required stress tests twice a week due to my “advanced” age. My daughter broke her arm the night before my appointment, and let’s just say the stress test didn’t go very well. Immediately, I was sent to the hospital and induced. Though the nurses told us it would still be hours before the baby’s arrival, I knew differently. My husband rushed to get to the hospital, arriving just 10 minutes before Brody was born.
Brody’s birth went well; however, a week later, he began developing bruises from the slightest touch, such as his car seat buckle or just being held. He seemed to bruise just by looking at him. Seeing my little boy constantly so black-and-blue was devastating. We wanted to have a port placed, but COVID made everything more difficult. At the time, only children diagnosed with cancer were given clearance to have ports placed.
At Brody’s six-month well-baby medical appointment, he received three vaccinations, two in one thigh and one in the other. One of his legs swelled almost to the point of developing compartment syndrome. I rushed him to the clinic and insisted he be hospitalized. After two hours and several failed attempts, clotting factor was finally administered via a PIC line. It took more than six weeks for the swelling to finally subside and get his leg back to normal. Although we are not sure whether this severe bleed was the instigator, Brody continues to have issues with his hips.
Finally in June of 2020, he was able to have his long overdue port placed. Brody arrived for his surgery covered in bumps, bruises, and even some hematomas. The procedure went well; in short order, most of his bumps and bruises were gone or greatly diminished. Elation and a huge sense of relief settled in knowing I could administer his factor at home as I had been doing with Jacob for several years. Now four years later, Brody continues to do well with factor replacement and his port is holding steady. Jacob is 17 and self-infuses. His port was removed when he was eight years old.
Being a military family, we have moved 17 times in the past 19 years. Currently living in the Washington DC area, we have lived in California, Texas, Washington State, Hawaii, Georgia, and Alabama, moving back and forth to some of the same states. Constantly moving a family already provides many trials and tribulations – throw in a bleeding disorder, and the challenges grow exponentially, especially when having to establish access to care with each move.
I am truly thankful for many of the relationships and friendships we have been blessed to have over the years. I will always be grateful for the Hawaii Chapter, National Hemophilia Foundation for their support; for Ziggy Douglas, the chapter’s executive director who is no longer with us, for taking our family under his wing and for Donna Garner, BioMatrix Patient Care Coordinator, who has seen us through 17 years of moving and access-to-care hurdles. Donna has been our “constant” in all hours of the day and night, from when we lost the ONE bag that could NOT be lost (Jacob’s supply bag) and the countless times someone was hurt and needed extra factor sent ASAP, to just being our support and dear friend through it all.
My husband’s retirement is the light at the end of the moving tunnel. The plan is to leave the military in spring of 2024. We aren’t sure what the future will hold for us, but the message we would like to share is that we know being well-informed and having support is vital to survival in navigating the ever-changing world of living with a bleeding disorder.
Patient Navigation Program
Securing access to prescribed therapy, resolving insurance issues, and dealing with medically-related financial burdens represent some of the health system challenges faced by members of the bleeding disorders community. Our Patient Navigation Program is here to help!
DISCLAIMER: THIS IS NOT MEDICAL ADVICE. All information, content, and material is for informational purposes only and is not intended to serve as a substitute for the consultation, diagnosis, and/or medical treatment of a qualified physician or healthcare provider. Please consult a physician or other health care professional for your specific health care and/or medical needs or concerns and never disregard professional medical advice or delay in seeking it because of something you have read here or on our website.
Stay informed on the latest trends in healthcare and specialty pharmacy.
Sign up for our monthly e-newsletter, BioMatrix Abstract.
By giving us your contact information and signing up to receive this content, you'll also be receiving marketing materials by email. You can unsubscribe at any time. We value your privacy. Our mailing list is private and will never be sold or shared with a third party. Review our Privacy Policy here.
