As I come down off the high of an amazing trip to see my daughter’s Beyond the Diagnosis portrait and celebrate her journey, I struggle to find just the right words to describe what it meant to me. I tried to explain my feelings about what that painting means after living the undiagnosed and rare life to the incredible people we met while there, but fell pitifully short of doing so adequately. This morning, however, the words started coming to me and so, in honor of the many children who are undiagnosed or live with a rare disease and the families who love them, I share my words to shine a spotlight on their struggles.
Emma had her first seizure half an hour after birth and from that point, she battled an unknown foe until she was diagnosed at 5 ½ years of age. That period of time is miniscule compared to what some families wait for a diagnosis, but it still felt like an eternity to me. During those 5 ½ years, I researched like a maniac, constantly searching for things to test her for and trying to find extraordinary doctors and facilities that would be willing to help us find an answer.
Often, undiagnosed families deal with doctors, family, and friends discouraging their search for a diagnosis. Parents are forced to fight and become strong, assertive advocators for their children. Doctors will test for the obvious and treatable conditions, but if it proves to be a difficult case, resilient and passionate doctors are few and far between. I have lost count of the number of times during those 5 years that a doctor told me they couldn’t help or that I would probably never know what was wrong with Emma. I had many people tell me I just needed to accept and love my daughter and stop wasting time searching for something that was out of our reach.
I’m not sure anyone who hasn’t experienced having a very ill, undiagnosed child can understand the deep need to find an answer for them. Have you ever lost track of your child for a few seconds at the playground? Has your baby ever been sick enough that it left you feeling helpless and desperate to talk to their doctor? Do you remember those feelings? Now magnify those a hundred times and imagine feeling that way every day, knowing there is no end in sight, and you will get a small idea of what the parents of undiagnosed and rare children feel like.
Some of the thoughts that constantly haunted me were, “what if she has something treatable and we could help her? What if it’s something my other children will develop down the road? What if it’s something hereditary that my siblings need to know about before starting their own family? What if it’s not treatable and I will lose her without ever knowing why?” And finally, “how can I help and protect my child when I don’t even know the name of the monster making her sick?”
Not all of these questions can be answered when a child is diagnosed, but many other important things can come from it. Suddenly, you have a community of other families dealing with the same daily struggles and isolation, who will become like family. You see pictures of other children doing the same, adorable leg cross you always thought was an “Emma thing.” As a community, you take on the challenge of getting researchers involved and fighting for a treatment and cure. You plan trips around being able to meet these families and no matter how brief your time with them, it is magical.
Sadly, rare and undiagnosed children are invisible in the medical community. Most doctors they see aren’t going to have experience treating their disease and rarely take the time to learn, which means the parents end up being the “experts”, although rarely treated as such. Emergency room visits are a nightmare as you try to explain that your child doesn’t fit into the neat little box they were taught about in medical school. These children are too much work for most doctors and what should be an opportunity to learn and make a difference, instead ends up feeling like a burden to them. Research is expensive and families are left to fight for a place in this world and with there currently being 7,000 rare diseases, it is a huge undertaking. Without a diagnosis, children have no place where they “fit”. They are often crammed into the CP or Autism category, but it is never a perfect fit. It isn’t really where they belong.
For 5 years, I disagreed with doctors, second-guessed myself and my sanity, and fought a battle with a nameless foe, feeling very much alone. December 18th, 2013, I found out who our adversary was. I knew its name, but it was rare and researchers were only just beginning to look into it. A new fight began, only this time I wasn’t going to go into battle alone because we had a community.
Fast forward another 5 years as I stand in front of a painting of my sweet girl. In it, she smiles, as she usually does, and is surrounded by light. She looks exactly as I have always seen her. Her journey flashes through my mind and I am overcome with so many emotions. Her face represents her community in medical universities, government facilities, and research labs all over the United States, educating all who see it. My daughter is finally completely visible, her disease has a name, and she is “home”.