3 Things I Learned About Doctors After My Son's Rare Diagnosis

If you or a family member are a rare disease patient, chances are it took quite some time to receive an accurate diagnosis. Once you received your diagnosis, perhaps your doctor didn't have much to say or wasn't showing the level of interest in learning you would have hoped for.

We, patients and families, need to be the voice for rare diseases. Not only can it change our lives, but it can also change the lives of others now and in the future.

1. Patients can educate doctors

Like everything else in the world, there are good doctors and bad ones. That's just the reality. However, as a patient, you can help your doctors become educated on your disease. If they choose not to, then you walk away and find a new doctor who is open-minded and respects your disease.

Ways to educate your doctors

You can provide your doctors with scientific papers about your disease. Even if you do not fully understand them, chances are they will.

If you are part of a support group with patients like you, you can anonymously discuss others' symptoms and how they manage their care to validate treatments you want to try.

Making your voice heard

It is a lot of work, but as a patient or family member, advocating for yourself is needed to ensure your voice is heard. No patient is the same when it comes to rare diseases, but if we find ways to help each other out, we can make a huge difference.

2. Diagnoses fall on a spectrum

I will never forget the day I was told my son had cerebral palsy. This was 2 years before his actual diagnosis. I was told, "Don't expect him to ever walk. He won't talk either." My heart was broken. Not only did I just receive a diagnosis that flipped my entire world upside down, but my son was also categorized based on others — something no doctor should ever do to a patient or their family.

If you receive an umbrella diagnosis, it's simply just that. Everything is a spectrum when it comes to these different diagnoses. They can be severe, moderate, or mild. As a caregiver, I know that I now have to prepare for the worst and hope for the absolute best.

My son still cannot communicate verbally most of the time, but he did start walking at age 5. Sometimes, we use his augmentative and alternative communication (AAC) device; sometimes, we don't. We're okay with that because we have formed our own way of communicating, and guess what? It works. Every milestone is worth celebrating.

3. Professionals do not know everything

When my son was categorized into the cerebral palsy community, I knew that it was a spectrum.  It was obvious the road would be difficult, and there may be things my son would never achieve, but I remained positive. My son may have had cerebral palsy, but cerebral palsy didn't have him. The same goes for our official diagnosis of a VAMP2 mutation.

I was willing to go above and beyond every day to help my son achieve milestones he was told he would never achieve and prove the professionals wrong. Professionals don't know everything.

Find what works for your family

My son's progress has amazed me. His infectious smile and the way he can light up a room has touched my heart in so many ways. Keeping the energy to get through a diagnosis is hard.

I will speak from my heart and say I don't know how I do it. My family is all over the country, and not many can physically be present. Most of the weight falls on me to coordinate appointments, educational meetings, and therapies. Add in other kids, and it makes it even more difficult. It's a constant run around.

My advice is to find what works for your family. Every patient and diagnosis is different. We're not all going to have the same stories or outcomes, but we can work together to support each other. Sharing what has worked, what hasn't, and what we want to achieve.