January/February 2023 • PharmaTimes Magazine • 18-19
// PATIENT EXPERIENCE //
Inspiring hope
We chat to Kelly Heger – mother, nurse and patient advocate. She cares for her daughter, Jillian, who has AADC deficiency
Kelly, tell me about your role in helping your Jillian to communicate
My daughter Jillian has AADC deficiency, which means we cannot communicate like we do, but I have made it my life’s mission to be her voice.
Please tell us more about AADC deficiency
AADC deficiency stands for aromatic l-amino acid decarboxylase deficiency. A bit of a mouthful, so we refer to the disease as AADC deficiency in the community.
It is a rare disease caused by a faulty gene, which impacts a key enzyme in the production of dopamine and serotonin, leading to several challenges with the development and function of the body.
When did you first realise something was wrong and how did the diagnosis come about?
For a lot of children, parents may question whether something is wrong when their kids miss developmental milestones – like holding their head or rolling over. Or when they witness one of their oculogyric crises, which appears as the eyes roll up and into the head, but I was actually alerted very early on that there was something wrong.
A day after we were released from the hospital with Jillian, I became ill and we returned. While I was being evaluated, my husband mentioned in passing to a nurse that Jill felt cold. The nurse tried to take her temperature and thought her thermometer was broken because of how low it was.
After the second thermometer reading a code was announced and doctors rushed in to care for Jillian. We were later told that Jillian’s temperature was so low that she would have died within three hours, if it hadn’t been caught.
What happened next?
We spent a month in the hospital when we learned about Jillian’s low temperature, and she underwent several tests, before being given the all clear. We were discharged from the hospital and told she was fine.
After three months, I knew something wasn’t right. Jillian didn’t open her eyes much, she had trouble feeding and then she started having what appeared to be seizures. She would hyperextend, become very rigid, throw her head back and her eyes would roll back. She’d have raspy breathing, nasal flaring and beads of sweat would appear all over her head. I now know this is called an oculogyric crisis, but at the time the doctors and I were lost.
Then finally, one day, Jillian went through a severe crisis, and I called the children’s hospital. They told me to call 911. This is where fate intervened – the doctor who saw us was the doctor who had diagnosed the very first case of AADC deficiency in the US And after a recommended spinal tap, we received Jillian’s diagnosis.
How does your diagnosis journey compare to that of other parents?
For many parents with children who have rare diseases, diagnosis is a long, complicated journey. Many have not heard of AADC deficiency, and that’s why it’s so important to raise awareness as much as we can.
‘I decided to train as a nurse so I could take my daughter’s care into my own hands, as well as provide better support for those who have found themselves in a similar situation’
How does it feel, to be finally be told “we have an answer, this is what your child has”?
At first, learning that it was AADC deficiency felt somewhat like a relief. But then the reality set in that there wasn’t much known about this condition. And this was in 1996 – information wasn’t as easily accessible as it is now!
Care had to be provided to Jillian 24/7, while still trying to make sense of the complex medical information shared by the doctors. It was overwhelming.
How does AADC deficiency affect Jillian, and your family life, with your other children?
AADC deficiency affects dopamine and serotonin levels, so for Jillian that means it affects all of her body’s functions. She cannot move the way someone without AADC can. She cannot hold her head, speak or walk. She also has been having oculogyric crises since she was three months old, which are painful for her.
Jillian still needs 24/7 care, so that has affected our family life and, from a practical point of view, things like going on holiday require extensive planning. There are also with many costs associated with her care.
We had to make a conscious effort to be sure our other children were still experiencing the world the way that children should. We encouraged them to find and follow their own passions, create memories and go on adventures together.
Jillian’s condition aside, we did our best to treat her like any other child. We did everything any well child would do like sledding, going for walks, making snow angels and swimming in the pool. She is just like any other child – she wants to be part of everything. I even took her rollerblading, by holding her. She was laughing so much that day.
And Jillian’s condition led to a big life-changing decision
Yes, I decided to train as a nurse so I could take my daughter’s care into my own hands, as well as provide better support for those who have found themselves in a similar situation.
Juggling the competing demands of motherhood with three energetic children and caring for Jillian was challenging, it was overwhelming, but I felt determined. I didn’t sleep much, but after seven years of studying, I qualified as a nurse.
It’s your life’s mission to be Jillian’s voice. What did you mean by that?
Being a nurse opened my eyes to so many things, I just knew I had to do even more. I had this urge to not only raise awareness of AADC deficiency as a disease, but also to support the families going through the same diagnosis journey as I had.
Having a child with a rare disease can be a lonely journey, but once you find people who understand what you’re going through, you feel connected. That’s why I founded the AADC Family Network.
Tell me more about the AADC Family Network
We’re here to help the families of children with AADC deficiency. There are so many challenges associated with having a child with AADC deficiency – the diagnosis journey, uncertainty about what the future holds for our children, lack of medical knowledge or awareness of the disease and the burden of 24/7 care.
So, with the AADC Family Network, we raise awareness and generate funding for research into AADC deficiency. We also want to support children to live at home with their families, like Jillian does, and connect families to form a vital community.
Our mission statement is very special to me: One day I will walk, one day I will talk. Today, I can smile.
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