To the mom raising a child with a rare disease—I see you

I have battled with chronic, and at times, crippling anxiety my entire life. When my son was first diagnosed with his rare disease all I wanted to do was figure it out. 

At 3 months old, my son was diagnosed with a rare disease called MCADD, which stands for medium chain acyl-COA dehydrogenase deficiency. It’s a fatty acid beta-oxidation disorder, which means that his body has trouble breaking down certain kinds of fats to use them for energy. This can become dangerous and cause a low blood sugar (hypoglycemia) event if he’s in a situation where he’s unable to eat, such as having the stomach flu or food poisoning. It also affects how long he is able to go without food safely.

As a 5-month-old, he is currently not allowed to sleep through the night, even though he has the ability to. It will also affect how he intakes food in the future (no high-fat diets such as ketogenic or fasting diets). 

I wanted to plow through the uncertainty. I wanted to create the perfect plan and think through every potential pitfall.

I typically am able to quell my most anxious thoughts with data. Data often reassures me and challenges those anxious thoughts. But the data, in this case, told me that this was not supposed to happen. At odds of 1 in 20,000, he had a higher chance of being struck by lightning or injured by falling furniture than having this particular rare disease. 

I wanted to plow through the uncertainty. I wanted to create the perfect plan and think through every potential pitfall. If I had the perfect MCADD daycare educational card and bought the right hospital bracelet and painstakingly prepared for every offshoot of every potential thing that could go wrong, then I could relax. He would be safe. Then, I told myself, everything would be OK. 

Related: 5 ways to strengthen kids’ immune system this cold and flu season

This, of course, is not how anxiety or life works. My worries strengthened. My intrusive thoughts grew more frightening. I started picturing terrifying situations like my son passed out at a college party from drinking too much. Going camping with friends and not having enough to eat. Being stranded. At all ages, my son needing his mama and me being far away and unable to be there.  

Selfishly, I was angry at the universe for the life I had built in my head that we might not be able to have. My husband and I are avid lovers of travel. I wondered how we were supposed to navigate international travel. Would others see us as selfish? Would I be able to cope with the anxiety of being in a faraway country, unclear of how to navigate a different medical system? 

I felt so alone. As the mom of someone with such a rare disease, so few really understood what I was going through. Three months after his diagnosis, I still do not have the answers. But after wading through crippling anxiety as well as many practical logistics, I do have some thoughts.  

1. Find community. The FOD (fatty oxidation disorders) community is small, but it is there. By finding a Facebook group, I was finally able to hear stories from other parents and people of all ages with FOD. I heard from other moms who had recently-diagnosed babies. And connecting with adults with MCADD—some of them avid lovers of traveling and remote adventures—was the first time I felt myself finally start to exhale. 
2. Fight ableism. My husband and I have been extraordinarily privileged in terms of our physical and mental health and the resources we have to maintain both. It’s not a secret nor a hot take that our healthcare system is a deeply flawed mess. As it is what we currently have to work with, I am committed to fighting for my son and all other kids with rare diseases as much as I can. Whether it’s spreading awareness about his disorder through articles like this or advocating for systems that will better protect him, it helps me find purpose and direction. 
3. Practically speaking, get organized. The community I mentioned has been incredibly helpful in terms of what is important in communicating with my son’s daycare. In case we have to go to the emergency room, we have an emergency protocol that we need to take with us. Because MCADD is so rare, we cannot assume that the emergency room doctors would know what to do. Getting organized with all of these documents did make me feel better in terms of knowing that if there was an emergency, we would be able to handle it as best we could.
4. Accept the uncertainty. As a therapist, I give this evidence-based piece of advice often, but deeply wish I could better internalize it myself. Because accepting uncertainty means accepting the fact that something bad could happen to my son. Like most parents, I would go to the ends of the Earth to ensure that does not happen. But unfortunately, my efforts are not directly correlated with a positive outcome for my son. That is just not how any of this works. Being the best mom I can means better managing my anxiety and learning how to live with the uncertainty of not knowing how the rest of today, tomorrow, or the rest of his life will unfold until it happens. 
5. Control what you can. Another Dr. Courtney Crisp favorite. As a therapist, I often like to say something like, “It is one of the toughest realities in life to accept that we can only control our actions, but not the actions of other people.” And as much as I may hate this reality, it is true. My son will grow up to be his own person who I can influence, but not ultimately control. I will provide his daycares and schools with his medical information to the best of my ability and do everything in my power to advocate for him, but I ultimately cannot control how smoothly any of it goes. All I can control are my own actions and my own perspectives. 

Related: My son was diagnosed with a rare disease at 5 months old

In the end, none of these things will change the reality of my son’s MCADD. But it has helped to make me feel less alone and more able to accept our reality. If you relate to any part of my story know this: You are not alone. None of this is your fault, and there are people out there who can relate to what you are going through. I am thinking of you. 

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