Parenting my one-of-a-kind kid

By Beth Dangerfield

Three days before this picture was taken we rushed my daughter Abby into the emergency room. She had a stomach bug and wouldn’t eat or drink. For most kids this is a routine problem that can easily be resolved. For Abby, this is a crisis.

When she stops eating and drinking, Abby's body starts to break down quickly and critically.

When the rest of us are ill and lose our appetite, our bodies use fat for energy to sustain our necessary functions. Abby’s body isn’t able to do this—the enzyme that converts fat into energy doesn’t work.

Abby has a rare genetic metabolic disease called Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. When she’s sick and stops taking food and fluids, her body doesn’t have anything to use as energy. Things get really serious, not just with her muscles breaking down, but with her kidneys and heart. The way I explain it is that hospital stays are a necessary part of Abby’s treatment. Her disease doesn’t get better and, to our knowledge, it won’t get worse. When illnesses arise, being in hospital is essential to keeping our daughter safe and managing complications.

Our recent hospital stay, which wasn’t the worst or longest, made me reflect on our journey parenting a child with a rare disease. Feb. 28 was World Rare Disease Day. As the last day in February comes and goes each year, I take comfort in knowing that the circle of people with whom we share so much in common is far-reaching, especially since disease-specific support is hard to come by. These are people who understand that our parenting journey is unique.

Parents as experts

All parents are the expert on their child. When your child has a rare disease, you become the expert on that disease. While we have an incredible team of metabolic doctors that works with us and is in contact with emergency room staff and pediatric teams, when there’s an emergency, they aren’t frontline responders. We’re the initial source of information on Abby’s disease for frontline doctors and nurses. Our role as experts and advocates is amplified.

We can tell you Abby’s highest ALT and AST levels; we can tell you a treatment for unusually high and increasing CK levels in her blood; we can tell you what to watch for to know if her body is breaking down muscle; we can tell you why we are testing for ketones in her urine; we can tell you how to bring the CK levels down and predict with almost exact accuracy how quickly her levels will decrease. We know this disease. We bring a wealth of information to the table. Without that information, the care isn’t complete. This responsibility feels immense.

Not only do we have to explain our daughter’s condition to health workers, but because prompt, appropriate treatment is imperative, we must insist on playing an integral role in her care. This assertiveness about our medical knowledge and experience isn’t always met with a smile.

The trouble with trust

Trust in health care is important. But it’s hard for us to trust when we’ve never met a doctor or nurse outside our metabolic team who knows Abby’s disease. The “I don’t knows” are frequent and feel frightening. We must ask lots of probing questions, request clarification on everything, inquire about any lack of urgency and insist on attention to every little thing. This trust issue goes both ways. It was difficult for our doctors this time to trust what we were telling them about the best way to care for Abby. “You’re not letting me help her get better” I told one night nurse. It wasn’t her fault—she just happened to be in the room and I was pushed to the limit and almost in a panic. When dealing with a rare disease, the traditional doctor-patient-family relationship doesn’t apply. A new type of partnership must be forged and we have to trust each other in different ways to provide the best care. This isn’t easy.

Trying to manage complex, fragmented care

At one point during our recent hospital stay, I had a specific question for a doctor. To get to the doctor, the question had to go through a chain of command of four people. This is a system I’m trying to be patient with and accept. I mention this example only to illustrate how complicated rare disease care can be—in every respect. It’s not direct and involves many people, delays, mixed messages and miscommunications and, of course, a great deal of uncertainty. This applies to our hospital stays, but also to the general maintenance and monitoring of Abby’s disease when she’s at home.

Abby had her first crisis—a cardiac arrest—40 hours after she was born. Because of this early life-threatening emergency, Abby’s motor skills, especially her speech and language, are delayed. As a result, we’re seen in four health centres by eight different clinics, in addition to the therapy we receive at home. Each doctor or therapist works separately. While there’s an understanding of the bigger picture, appointments and goals are set independently and progress is assessed in isolation. Our care is fragmented and uncoordinated. Managing that care while in hospital, and in everyday life, is a full-time job. Even though I dedicate most of my time to it, the expectations regarding Abby’s care are impossible to meet.

When you have a child with a rare disease, it feels like you're parenting with the volume turned up so loud it drowns out everything else. Everything is extreme. Everything is intense—the to-do lists, the planning and running around, the worry about the present and the anxiety about the future. The good news is that this amplification also applies to the good stuff. The little things carry a lot of weight and are very satisfying: the calm and happy moments, the steps forward and the personal growth. For me, what's most deeply rewarding is watching Abby continue to land on the wrong side of the odds as she exceeds expectations in every way.

We only spent three nights in the hospital this time around. We were discharged just in time for Abby's fourth birthday party. It’s hard to believe it’s been four years since I heard about LCHADD for the first time. It feels like yesterday that I was standing with the neonatal fellow in the hallway of the NICU, listening to her tell me that Abby’s newborn screening results were abnormal. I could take you back to the exact spot where that conversation took place. It wasn’t a diagnosis at that point, but it might as well have been. That was the moment our rare journey began for me.

If I had one wish and could take this disease from Abby, or make it disappear, I would in a heartbeat. It’s too much. It’s not fair and she certainly doesn’t deserve to have to live within the confines of LCHADD. But I have to admit, there are moments, many of them, where I feel a sense of pride about how unique she is and about how we have survived so many rare “firsts.” There isn’t a day that passes where I don’t feel proud to be by her side through this. I hope I'm able to pass this feeling along to her as she grows up—to convey to her that being “rare” isn’t easy, but it’s one of the things about who she is that makes her outstanding.

If you’re a parent of a child with a rare disease and are interested in group support, please feel free to contact torontofamilies@rarediseasefoundation.org for information about the Rare Disease Foundation Parent-2-Parent Resource Network. This is a monthly group I participate in.