The terrifying uncertainty of having a child with an illness that changes every day

Before I had my son, I knew what kind of parent I wanted to be. My husband and I had decided on everything from co-sleeping and TV usage to schooling and nutritional choices. Like many moms-to-be, I fantasized about our growing family and the role our son would play in our lives. But then my son, David, came along and we all know what they say about the best laid plans.

Starting in early infancy, we suspected that something was wrong. He often had rashes on his face, arms and neck. Every time he nursed, his face would flush a deep red, and he would pull off the breast and cry. He would throw up while nursing, and often up to two hours after a feed—something that even the nurse in the hospital after his birth acknowledged was unusual for a newborn.

In a search for answers, I saw five lactation consultants in the first four months of his life. One convinced me that he had severe tongue and lip ties, requiring an invasive, painful procedure when he was just five months old. After the procedure, he stopped sucking altogether, and ended up in oral motor therapy. And still, his eating problems continued.

He began experiencing daily gastrointestinal bleeding, pain, vomiting, rashes and hives, along with continued weight loss. I concluded that he was having allergic reactions to foods through my breastmilk, so I made an appointment with a paediatric allergist. David tested negative to allergies for rice, dairy, soy and other foods, even though he was experiencing hives, reflux and diarrhea after exposure to them through my breastmilk. The allergist told us he was fine. We were confused and frustrated, but we kept searching for answers.

After an abdominal ultrasound and a set of labs ruled out more common gastrointestinal diagnoses, his paediatrician referred us to a paediatric gastroenterologist. It took months of appointments, weight checks, dietary changes, labs and an endoscopy/colonoscopy until his gastroenterologist was able to diagnose him with a rare condition called mast cell activation syndrome (MCAS) at eight months of age.

MCAS (pronounced “em-kass”) is a condition in which mast cells (a type of white blood cell) act erratically. In a typical person, mast cells release chemicals like histamine when your immune system notices an invading substance. For someone with an allergy, the substance is usually harmless, but because the body has labelled it as a threat, the mast cells trigger a reaction to get rid of the allergen. This reaction can range from hives and itchy eyes to vomiting or anaphylactic shock. In a person with MCAS, the mast cells can react to anything, at any time, in any and all systems of the body. The triggers are not captured on traditional allergy tests, and the reactions are often delayed. This manifested in my son in various ways, such as flushing, vomiting and abdominal pain after breastfeeding; hives with temperature changes; and blood in his diaper—even several days after ingesting food. After many scary reactions, we learned that his main triggers are heat, almost all foods, exertion, stress and pressure changes.

But MCAS is unpredictable. Something previously considered safe for my son can become a trigger for severe reactions, like profuse vomiting, at the blink of an eye. This happened last year, when his formula (his sole source of nutrition, which we had determined was safe after months of trial and error with other formulas) turned into a severe mast cell trigger. At first, it was difficult for us to pinpoint what was causing the signs of increased reflux and malabsorption. When symptoms progressed into gastrointestinal bleeding, diarrhea, pain and more frequent vomiting, we closely examined his environment, formula and other possible triggers, taking detailed notes to determine what was responsible for his discomfort. We concluded that his formula was the culprit. He had no other safe nutrition sources, so we needed him to try a new formula. The transition was not without setbacks, reactions and overwhelming confusion. He developed itchy rashes and suffered from sleep and mood fluctuations. Some days, he was miserable, while other days he seemed to be feeling better. Each day, we had to weigh our son’s new reactions against his previous symptoms, and decide if we should continue forward. We managed the fear of pushing through reactions by reminding ourselves of the benefit of finding a new formula, and ultimately, he was able to transition fully onto the new formula. He is currently thriving on it, but we are always reminded of the erratic nature of his mast cells, and the uncertainty that each day with MCAS brings to him and our family. This formula, while safe for now, may trigger his mast cells in the future.

The unpredictability of MCAS works the other way too: Something previously considered “unsafe” may be perfectly fine another day. A couple of years ago, we noticed that Benadryl made him vomit—an unfortunate reaction to a medicine meant to reduce the severity of his reactions. Instead, he tolerated Atarax as his “rescue medicine,” until the effectiveness of the drug seemed to wear off, and it was no longer helping him. We were nervous to try Benadryl again, the memory of his previous reactions still vivid, but this time, less than one year later, he had no negative effects.

Because of the unpredictability of triggers and reactions, we are left constantly questioning, second-guessing and backtracking. David’s condition requires us to be scientists, performing experiments and collecting data to keep him as healthy as possible. We document David’s daily symptoms and possible triggers on a large calendar, so that we can analyze trends and better visualize patterns. For example, we noticed that every time he ate cantaloupe, he felt awful the next day. Every morning, we assess his skin for new rashes, hives and redness, and we take notes and pictures of what we see. Skin reactions that progress and spread are signs of more systemic reactions, so we pay close attention to them from the time they first appear. My son’s GI tract is always affected, even when he is not reacting to anything in particular, so we rely on tracking changes from his baseline to determine if something is causing a reaction. Some are obvious: He eats a food and within 30 minutes is flushing, breaking out in hives, screaming in pain and vomiting. But most of the time—almost all of the time, despite our notes, our data and our excruciatingly careful observations—we do not know the cause of a reaction. Often, there is more than one cause, like heat, emotional stress and pressure changes. The nature of MCAS is that most questions remain unanswered, and in order to live our lives with peace of mind, we need to be comfortable with the unknown.

Now that David is three years old, we have had several years of practice settling with uncertainty. With each new challenge, my husband and I work with David’s tremendously creative and compassionate doctors to come up with solutions to stabilize his health. Last year, when he started refusing his bottles and his weight began to plummet, we made the very difficult decision to give him a feeding tube. The surgery and recovery were immeasurably difficult on him and on us, but the end result was a godsend: His feeding tube gave us a guaranteed method for feeding him formula. His weight and nutrition are now stable, and he is thriving. He takes several medicines, multiple times a day, to manage his constant state of mast cell activation. Because exertion is a major trigger, we are teaching him to modify activities and to take breaks before he becomes too fatigued. Our weeks are busy: He is in physical therapy, occupational therapy and behaviour therapy a total of 33 hours a week. He sees the GI specialist every month, and an allergist every other month. He sees a neurologist and an ophthalmologist two or three times a year, and will soon be adding cardiology to the mix.

We are trying to give him as much of a regular childhood as possible, but most everything requires modifications. He attends a preschool for two hours a week, accompanied by his nurse and his behaviour therapist. Because food is such a struggle (even the smell can be a trigger), we do not go to restaurants as a family, we don’t cook or eat dinner until after he is asleep, and holidays are centred around activities, rather than around meals. We hope that in the future we can have family meals together, but that hope is second to our desire for him to be safe and healthy.

Before I had my son, I knew what kind of parent I wanted to be, but I did not take into account what kind of child my son would be. My pre-determined decisions were based on the idea of parenting, and most of those decisions will never come to fruition in the reality of our situation. Television, for example, which we originally thought would be a special-occasion treat, turned into the saving-grace distraction that allowed us to bottle-feed our son, who otherwise would refuse his formula. Schooling, which we originally considered to be a simple transition as he became of age, now requires meetings, evaluations, therapies, one-on-one aides, a nurse and seemingly endless accommodations. As for me, I’ve learned to be flexible; any plan I make today can be reversed tomorrow. I am definitely not the parent I originally wanted to be, but thanks to my son, I am so much more.

Read more: What life is like for kids with rare genetic conditions 10 truths about parenting a child with special needs