Claire 4 Rare Meets Robyn & Ariella

Welcome back to Claire 4 Rare! This month’s column is a love letter to all mothers with a rare child. Their love is the greatest kind and their power to protect and advocate for their child, is unfathomable. 

Thirty years ago Robyn Deleon gave birth to her fourth and seemingly healthy child. The perfect pregnancy and familiar regime gave way to hope and excitement for the future of this beautiful baby boy. Sadly, he unexpectedly passed away at three days old. The floodgates of immeasurable sorrow and relentless questioning opened. Thus began Robyn’s journey into the beautifully complex world of rare disease. An autopsy and extensive genetic testing revealed a Urea Cycle Disorder (UCD) called, Ornithine Transcarbamylase Deficiency. A UCD is an inherited disease that affects how the body removes the waste that is made from breaking down protein and Ornithine Transcarbamylase Deficiency is one of six deficiencies. Ornithine Transcarbamylase Deficiency, specifically, causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system and the liver are especially sensitive to the effects of excess ammonia. These levels can usually be controlled with medication, diet, and a possible liver transplant. 

Within the process of uncovering this disease, it was discovered that this was a new mutation which began with Robyn. Not only did this disease present a new set of challenges for Robyn, it also brought on the gut wrenching feelings of guilt and the possibility that she had caused this. However, the unknown is just the horrific truth of life with a rare disease.

Robyn had a fifth baby who was also diagnosed with this disease and he was immediately put on the transplant list for a liver. Unfortunately, he too passed away after a successful transplant. 

Robyn’s sixth child was diagnosed with the disease at 7 months old as she began to introduce solid foods. Nineteen years later, Ariella is still going strong. Ariella and her mother have triumphed over this disease together and have formed a beautiful bond through sharing in their suffering. Living with a rare disease is extremely isolating so it’s comforting for Ariella and Robyn to have each other. However, this does not put a stop to Robyn’s innate motherly instincts. Robyn and Ariella are on the same medication to treat their disease and Robyn says she forgets to take care of herself in the midst of worrying for her daughter. “It’s difficult to walk that tightrope of managing so many things.” With Ariella being nineteen years old now, Robyn is having to begin the difficult process of handing over responsibility. Robyn’s concern comes out in the occasional, “Did you take your medicine?”, “Are you following your diet?”. Letting go is the most difficult part of having a rare child and this powerful mother daughter duo is no exception. 

In learning about this rare disease, Robyn also learned about the lack of support for UCD families. “My husband and I felt that there was something missing that these affected families needed.” Robyn and her husband began their own foundation called, Connecting Families: Urea Cycle Disorders Foundation, in order to bring families together and provide a strong connection and understanding among all members of the family. When being stuck in pain and suffering, we find hope to propel us forward. As Robyn says so eloquently, “Hope is a good thing and no good thing ever dies”.

What does RARE mean to you? 

“UNIQUE…. being one of a kind!!! 

I am special… I am me , most of all I’m shining in my own way.” If you are living with a rare disease or know someone who is, please contact me at claire.bevec@harmony4hope.org. I would be honored to share that story here! If you don’t feel ready to do so, that’s ok too. I would be so happy to just meet and chat with you. I understand sometimes it’s hard to find someone to talk to who also knows what living with a rare disease is really like. We’re rare, but we’re there!