Our journey began many years ago after my fourth child was born. Shortly after his birth he became very ill and passed away at three days of age. I was devastated at the loss of Jesse as it was particularly difficult because all my other children were healthy and unaffected.
After much testing, an autopsy ultimately revealed that I was a carrier of a Urea Cycle Disorder, specifically OTC (Ornithine TransCarbamylase Deficiency). Not knowing what any of this even meant, having this type of tragedy strike left me feeling scared and completely vulnerable. I harbored much guilt for many years as if it was my fault my son had died. In an attempt to find out where this originated, further testing involving my family members concluded two things. None of my family members carried the gene, and, this was a new mutation that began with me. This news made it more difficult to bear and made me feel even more alone and desperate. I was diagnosed with OTC in 1990, and as many UCD patients may know, there was next to nothing regarding information on this pernicious disease back then. In feeling alone, I realized that I actually was alone.
In 1999 I became pregnant with Michael. As you may imagine when we found out it was a boy, my heart relived the horror once more. Michael was born and immediately had an episode of Hyperammonemia with his ammonia levels in high 600’s. Unable to bring them down, they rose into the 1000 range but experimental medication administered eventually brought them down. He remained hospitalized for weeks and at the suggestion of transplant surgeons, it was decided he would receive a liver transplant. He received his transplant December that year, but unfortunately, his little body wasn’t accepting it. He fought so hard and we had many scares which include the many instances we were called in the middle of the night to come quickly as it may be his last moments. His courageous and unrelenting fight continued for seven weeks.Michael passed away February 2000. It is difficult to put into words the pain involved, it never really goes away, but we have learned that it does get better.
Six years later, I became pregnant once more. We were having a girl. Since the passing of Michael there had been more awareness of UCD’s, and one thing we were told is that the survival rate was better for girls. Pinning our faith on this, our daughter Areilla was born. For the first six years of her life we relived much of the same experience with Michael. She was in and out of hospitals constantly. We have been across the entire country seeking help from the best doctors in their fields and finally landed with one in Southern California. During our quest to find physicians, we have participated in a study at the NIH (National Institute of Health) in Washington D.C., and have been in a drug study for HPN-100, which ultimately got FDA approval, to a longitudinal study at UCLA in California.
What we have learned
It has been a tough road but thanks to the better awareness, technology, genetic specialists, and FDA approved medications, she is a happy (and defiant) teenager. Today she is fourteen years old and we are so incredibly grateful for this precious gift from God. Obviously there are physical limitations with UCD’ers and we are still overcoming the challenges of raising a daughter with OTC.
For almost two decades there were only doctors to speak with. When I finally did find some of those affected, simply speaking to these few became an important healing process that ran both ways. This is something that we at Connecting Families wish to pass on to all with UCD’s because we understand exactly how alone this can make you feel. You are not alone!
We are not trying to convey that we know it all. We are aware that all cases are different, but having said that, we understand the devastation caused by this horrible disease. We wish to give others what was missing for us, someone who understands and can reach out with support. It is only through our faith and through advances made by spreading awareness that we were able to get this far. We have learned so much and continue to learn to this day. My daughter and I are both taking medication and amino acid modified medical foods.
Our journey will continue until there is a cure, and hope is only made complete in others seeing what is done for us all. We want to share that hope with the entire world of UCD patients and believe no one should be overlooked. In starting this foundation we are dedicating ourselves to bringing much needed support to the UCD community.
There is more to this story, as every day we thank God for another precious day. I would love to share with anyone who wants to know more. We will strive towards awareness, (medical and personal), education, and bringing hope to our UCD friends and families. Our desire is to bring us all together, no matter where you are, and with your support, we can continue Connecting Families all over the world.