By Ezra’s Mom
My son Ezra was diagnosed with a rare disease just a few days after birth, when he was circumcised and the wound bled for several days. This is his story, and my journey to understand HOW to be a mother to a child with a rare disease. He is now almost 7 years old, and I have learnt to live with the daily obstacles we, as a family, face together. After a few agonizing days in ICU we found out what was wrong with my
beautiful newborn.
Now that I know more about the rare diseases community, I know that we were lucky
to get a diagnosis so quickly. When I heard the words #Haemophilia for the first time, my heart broke a million times. Haemophilia is a Genetic Bleeding disorder, which I had never heard of before. I was a first time mom, and dealing with the normal challenges plus the unknown implications of a special needs baby, I was in severe shock for quite a while. Doctors and nurses at Charlotte Maxeke were so helpful and supportive, but I felt completely lost in a sea of information those first few months are a haze of tears to me.
Getting in touch with other moms and Haemophilia patients on our
Facebook Support Group opened a world of hope to me. I started getting involved with the South African Haemophilia Foundation, and as such got involved in the lives of many parents in the same boat as me. Haemophilia boys (it only affects boys) are in danger of external bleeding (due to injuries, or sometimes these happen spontaneously) as well as internal bleeding (like bruises and sprains).
Repeated bleeds in a joint can lead to permanent disability. Raising a special needs child has many challenges. I’m lucky because my son can live a normal life –we just need to take the necessary precautions. These include bi-weekly infusions where I inject him with Factor VIII (this is the blood clotting factor that his body doesn’t produce). In the beginning doing this was super scary, but now it’s such a part of our routine, it doesn’t even phase us. In fact, Ezra looks forward to this, because its the only time he’s allowed to play on my tablet.
The whole process takes a while though –from preparation and sterilization of the environment, to the actual injecting and the aftercare takes about an hour and a half, and we need to do this three times a week. When he does have a bleed, or any injury, we sometimes have to do this daily. We can’t ever just go to a birthday party where there will be activities such as jumping castle without taking the necessary precautions. I always carry ice packs with me, and if we go further than 2 hours
from home, I always pack factor and medical packs for injecting.
So Haemophilia is always in my mind, even though we deal with the realities and practicalities so well. When something like this affects your daily living, it is natural to
want to tell people about it. And this is a good thing. Raising awareness is a personal quest for me –I even had one of Ezra’s bruises tattooed on my arm. This is a great tool –people often ask me what happened to my arm (with shocked faces), and I take this opportunity to tell them about Haemophilia.
In South Africa the statistics of undiagnosed boys are shocking. These boys (mostly in rural areas) get many bleeds and end up with critical permanent injuries, which could so easily be prevented if the people around them (inducing medical staff) had known about the disease. This really makes me sad –I wish I could do more to reach out and spread awareness. We were lucky that Ezra was diagnosed so early. We could give him treatment before he really needed it (babies crawling and walking cause lots of bleeds, and we were able to treat all these before they became problematic).
But Haemophilia does cast a dark cloud over our lives. My son sometimes asks
why God gave him this. He accepts the answers, but I know there may come a time when he will resent his ͞being different.The diagnosis and early days took its toll on our family, and I went through dark days. I do feel like it has also had a positive impact though. My extended family of bleeders I met through the Haemophilia Foundation has really made a positive impact on my life.
Ezra’s sister was born 2 years ago. There is a 50% chance that she may carry the same “devecfive” gene I have. She’ll have to be tested one day, especially when she starts thinking about having children of her own. Haemophilia may be a part of our family for generations to come. There is quite a bit being done on the research side, and we hope and pray that long-term treatment will be available within Ezra’s lifespan. For now, we live in hope, and in peace. Haemophilia is quite manageable, especially if you have access to medication. I am thankful for this. Sometimes still resentful, but mostly filled with hope for a future without worries about falling, bruising and other injuries that are bound to happen to energetic young boys!