Speaking from the Heart

kid on bike

In my family, we have always been very open about issues related to hemophilia. I already knew from a very young age that being the daughter of a person with this condition brought the chance that when I had male children they could be born with hemophilia; and if I have females, they could transmit hemophilia to their male children. For this reason, I always felt the need to seek help from a Genetics Specialist to know what the options were for when I decided to get pregnant.
I remember looking for articles about the updates in the advances in Hemophilia and the preventive procedures to which the carriers could undergo. I found a method called Preimplantation Genetic Diagnosis (PGD) which consists of doing a genetic study after doing In-Vitro Fertilization, and before the transfer to the uterus, to study the genetic material of the embryo and thus be able to detect genetic alterations.
"I clearly remember getting super excited for having found that option to be able to have healthy babies who could not transmit the defective gene to other generations if they were girls. When I began to investigate whether this method was being implemented in my country, the Dominican Republic, I had no luck finding a clinic or specialist to perform this procedure, and in fact it was very painful for me to know that perhaps the means to stop the chain of transmission of this condition that had already brought so much pain to my family was not available.
Most people do not understand the uncertainty and anxiety that a Hemophilia carrier generates from even thinking about creating a family and being aware that your children can suffer the same pain and disability that your father had. Many times, you lived so closely to the pain that you could feel as if you were suffering. It can leave you with feelings of guilt and anxiety about the future.
Before making a serious commitment with my husband, we had a conversation in which I explained to him that I was a carrier of hemophilia. I told him that I had a 50% chance of my child having the same condition as my father if he were a boy and the same probability that a daughter would be a carrier. Before he knew about the condition of my father and of some relatives such as uncles and cousins, he expressed his wishes to form a family with me, saying that it did not matter if our children came out with hemophilia or not. That same day he told me that science was very advanced and that our children did not have to suffer like my father did.
Sometime later, we got married and then waited three years to start thinking about the idea of getting pregnant. It happened very quickly, however. I was very surprised by the news and from that moment on I made myself believe with all my might that it would be a girl. Every time a thought came to my mind that maybe a boy could come out, my emotions would be flooding me with a feeling of sadness and anxiety that only dissipated when my husband told me that everything was going to be okay. That is how I spent the first four months, until the day came to perform the sonography to determine the sex of the baby. Oh, God, how I had wished that the sonogram confirmed that it was a girl! I thought that the power of secrecy and a positive mental attitude would help me to achieve what we had longed for.
Already seated, waiting for the doctor to perform the sonogram to determine the sex, something inside me told me that it was a male – that the baby that I had in my womb was male and that the only thing I could do from that moment was to love him and enjoy that precious gift that God was giving us. After approximately fifteen minutes, the doctor asked us if we were ready to know if it was a boy or a girl, and almost at the same time we said yes. My husband was very excited and for the first time I felt calm and safe. The doctor confirmed to us that the baby was male.
The next two months were spent planning the next steps we were going to take, knowing that our son could be born with hemophilia. We chose, among all the possibilities, that it was best for me to come to the United States to give birth to make sure that in case the baby needed it, I had immediate access to factor and an HTC. As my husband was born in the United States, many people told us that there were no problems with his baby being born in the Dominican Republic, and that he would get American citizenship, but we decided it would be better to come and give birth here. I arrived in New York City on April 12, 2014, six months pregnant and with a lump in my throat. I had left everything, but I did not care as I knew it was the right thing to do for our baby. My water broke on July 2 at 5:00 pm and my baby was born on July 3 at 3:00 am. It was one of the most beautiful and indescribable experiences that can be had. When I saw him for the first time, my heart felt like rejoicing, and I felt a tremendous peace. I wanted that moment to stay frozen forever, as I knew that in a short time, they would take the hemophilia test and that would finally put an end to the doubts.
Two days after our son was born, the doctor arrived at the hospital room and informed us that she had the results of the factor VIII test. She paused, and from there my heart raced and I only heard the words “less than 1%”. I looked at my husband and asked him in a daze what she had said. He looked me in the eye, and with a low voice he informed me of the news that all my life I had tried to avoid, the news that my ears were not prepared to hear, the news that would change our lives forever. My baby boy had been born with hemophilia. My eyes were watery, and my head was completely clouded, I could only think of one thing: why my baby? For me, was it not enough with what I had already lived through with my father? What would become of my little one and how could I endure seeing him suffer? I would like to say that the following days were of happiness and adaptation, but they were not like that. I did not feel that way at all. All I wanted was to turn back time and listen to the doctor say that my son was born healthy and that everything was fine.
It took several years, to be more specific almost five years, to understand that my son, despite having hemophilia, was a completely healthy and happy child. He had not been born with the same conditions as my father, even though they both shared the same diagnosis. It took me time to dispel my fears of spontaneous bleeding, joint pain, joint deformities, brain hemorrhages, and everything else I had experienced with my father. It took time, but here I am today, almost seven years after that day, with a smile on my face and a gratitude that does not fit in my chest towards God and towards life. My son has never had a joint hemorrhage, or pain, or anything that resembles what I experienced with my father. As my husband told me that day, times have changed and having a child with a bleeding disorder is nothing like it used to be, at least in developed countries like the one we currently live in. Every day I ask God to please help children and adults with hemophilia in all countries, so that they can access adequate treatment. I know that my wish will gradually come true and, in a few years, we will see it as a reality.
Ana and Leonel live with their son Luis, hemophilia B.
Note: “Infusing Love: A Mom’s View,” is a blog collection of personal opinions and a representation of individuals experiences. While extensive efforts are made to ensure accuracy of the content, the blog entries do not represent HFA or its Board of Directors. The blog is also not intended to be construed as medical advice or the official opinion/position of HFA, its staff, or its Board of Directors. Readers are strongly encouraged to discuss their own medical treatment with their healthcare providers.