Rare Disease Day 2020 - Parents, Patients, Doctors

"Back in the 80s, there was no "Dr. Google" and the physician in the room was the oracle of all sagely wisdom and medical expertise -- even if the rare disease was something the had never seen before."

We are not back in the 80s, we are 30 years later. Is this still true? Just how are parents of a child with a rare disease treated? Are they listened to? How do physicians and medical staff view them? There were many times when Brian or I would have to "put our foot down" in order for something to or not to happen for Ian. We became the experts in the room...we knew Ian and PCH1A better than anyone.

Back in 2012, I was going to find out how to help my son. Little did I know that in doing so I was going to become the expert on the altercation of VRK1. I started by going to the one person who may have known something about it, the author of the published article from 2009, Dr. Ephrat Levy-Lahad. I remember everything about this conversation, from where I was to what I was doing to what I said to what she said.... This began my journey, our journey in becoming an expert, an expert on VRK1 and how it would, not could because we knew it would affect Ian and our lives.    

  

This is not an uncommon story in the world of rare diseases. Rare patients or the parents/caregiver often become experts on their disease when communicating with their general practitioners, or even medical experts who may have never treated their disease before.

No doubt a significant role-reversal has begun to occur, as rare patients bring valuable lived experiences to their doctor visits and the encounter between the informed patient and collaborative physician breaks tradition. Often patients come with experience not only about their disease but also knowledge of treatments that doctors are often unaware of. After all, with 7,000 rare diseases and new ones discovered each day, the doctor is sometimes running over countless learned facts in a brief, 20-minute consultation. So it behooves the doctor to seek  patient input when faced with "things that don't make sense."

With absolutely no prior medical training, our efforts were met with rigid disapproval and consternation. When Ian was first diagnosed in July 2012, there was one published article on VRK1, yes just one published article, and that article was published in 2009. This article was the first to describe the same alteration Ian had in VRK1. It described 2 young girls from an Ashkenazi Jewish family who had many of the same neurological difficulties Ian had. Now there are more cases, yet our information about this gene and its specific role in neuronal integrity remains very limited. 

Over the years, I have realized that many patients with serious illnesses prefer the physician to dominate the decision processes and provide the information needed. However, in rare diseases, due to the low prevalence and lack of expertise, the patient and/or parent and caregiver is forced to become knowledgeable about their own disease. It forces the experts in the room to come to a shared understanding that this is a zebra we are dealing with and not a horse. And yes, even Ian became an expert. He began to know what he needed and when, he knew which medicine he was to get and when, over time, he was able to advocate for himself, letting us or his nurses know when he wasn't feeling well and needed his treatments. 

Some takeaways from an adult who was once "that child" to the parents of a child with a rare disease and from an adult who was not "that child" to the parents of a child with a rare disease.

Doctors are not Gods

While knowledge and expertise are to be respected, doctors are human beings and can make mistakes. A parent's experience with their child, in most cases, trumps textbook knowledge and classroom instruction. The doctor is probably as lost as you are, while they deliver the news of a diagnosis like a death sentence of all that could be happy and beautiful for your child, know there are options, even if the person who gave them their diagnosis isn't aware of all of them. The path you choose for your child doesn't have to be one of desperation, loss, and fear. Parents don't have to believe the doctors who tell them their sickly child would not amount to much, may never earn high praise from the ones who mean the world to them.

Letting Go

Letting go of fear and anxiety about a future you thought of for your child helps you live in the now. Do parents worry about the future of their children? Sure. All the time. Do they show it? Yes and no! Help them to find balance in their world. In a strange way it can free them from unnecessary stress, and equip them for the bigger battles ahead.

The Power to Choose

Someone once said, "Between stimulus and response, there is a space. In that space is our power to choose our response. And in our response lies our growth and our freedom." Fear limits you and your vision. The solution may be just around the corner, but fear keeps you rooted from taking the next step. The problem doesn't have a solution...yet. The journey is valuable, but believing in your child's talents, abilities and worth is equally valuable.

Not Winning on Your Terms

Being flexible is critical when you are advocating for change. As a parent of a child with a rare disease, you will encounter many different people who don't understand your world and perspectives that often throw your world into chaos. Here's where you need to take a step back and breathe. You have to realize change won't happen if you appear too rigid or fixed in your views. Working with different types of people and situations -- even when confronting different belief systems and ideologies -- teaches you as well as your child to see multiple perspectives, understanding when to compromise and when to be open-minded.

Positive Advocacy

Self-advocacy is learning how to speak up for yourself, making your own decisions about your own life, learning how to get information so that you can understand things that are of interest to you, finding out who will support you in your journey, knowing your rights and responsibilities, problem-solving, listening and learning, reaching out to others when you need help and friendship, and learning about self-determination. Teach them through communication -- "I believe in you and I know you can succeed." Show them time and again that you are there for them, but the decisions are for them to make.

As a parent, you can empower your child with a rare disease to walk down a bright path. You can transform fear into freedom when you stop worrying about the "what ifs' and remember to never give up hope. Everyone has their own way of supporting their child with a rare disease.

The world of rare is complex.

Thank you to our village. You have been there for years supporting us in our journey as it has and is constantly changing.