What I Want People to Understand About Having Morquio A

By

Maria, José Vadi

Oct 12, 2021 • 4 min read

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Blog post originally written by the AllStripes community team. AllStripes was acquired by PicnicHealth in 2023.

There’s a charismatic energy that powers Maria’s jokes and stories that’s super palpable, even across oceans and over video chat. She spoke to AllStripes from her home in Hawai’i, where she moved after a childhood full of crafts and winter sports in New York and Vermont. Childhood is also when Maria was diagnosed with Morquio A, a rare genetic disease caused by pathogenic variants in the GALNS gene. Below, Maria discusses how being an active, creative people-connector can make all the difference when it comes to living with Morquio A.

Growing up my parents made sure I went on every single school field trip. We’d go ice skating, my dad got the walker, taped the wheels up so I could make it happen. Skiing too! That’s my dad for you — this is not stopping you. Of course he wasn’t letting me jump out of an airplane, there was some limitation, sure.

When a little kid comes up to me and says, You’re smaller than me but you act my mom’s age, I’ll explain to them that I was born with my disability. I show them my wrist, which is so floppy, and say, You know how you can stretch rubber bands? Well that’s what’s going on here. My “rubber band” — which is a ligament — is like a rubber band that got stretched. For an adult, I can tell them I’m missing an enzyme and that my parents had no idea that they were carriers of this gene.

Right before my first birthday, I fell off a toy, stopped breathing for a moment and turned blue. I was in the hospital for a week. Then, after going home and seeing a specialist and finally getting an MRI, I had surgery. I woke up and my mom said I had the biggest smile on my face, even with this giant halo apparatus on me. I had to relearn to walk with the halo because it’s heavy. I had it on for three months and that’s when they started to look for the cause.

It took the doctors a little while to figure out what I had. My mom found out on accident. She overheard a radiologist technician recording his notes saying, “patient with Morquio syndrome.” She asked the geneticist, who confirmed it.

And this is 1991, so my parents were alone in this, really. I don’t know how they did it. Nowadays, you see people on Facebook connecting with people with the disease in five minutes.

I personally didn’t meet anyone with Morquio until I was in middle school. Now, I have a huge community of people online. I run this nonprofit called Morquio Community and the reason it exists, first and foremost, is to strengthen our community. Morquio Community officially got nonprofit status during the pandemic. Our motto is “come meet, come teach, come learn.” Everyone can teach someone something. Even a 5-year old with Morquio can teach another 5-year-old who doesn’t have Morquio something.

What I really like about AllStripes is the fact that all the data that AllStripes is going to collect for us on our behalf is still owned by us, the patient. That to me is empowering. I’ve been in other studies before where I don’t get to see the results.

We do want research to happen, but I feel like I’ve learned a lot more about living with my disease from other people living with it themselves. When you go to the doctor, you go there for medical things, but they don’t teach you how to open up the door in your house that might be difficult — that’s something you’re going to find from others who have already found a solution.

My biggest thing is for people to understand that being diagnosed with Morquio A is not the end of the world. Some people think it’s a terrible thing, they hate the disease — get that hate out of you. You don’t want to spread it to your child who may have been diagnosed. There’s times when it’s not fun, sure. When I’m in surgery, yeah I wish I didn’t have it, but there are benefits you’ll see once you accept the diagnosis and begin to meet others.

That’s what I hope other people take away and understand — it’s not the end of the world.

We know that every person's story is unique and deserves to be heard.

Create a List

List the names of all the doctors, hospitals, and other facilities your loved one visits regularly, along with those they have visited in the past. Try to go back as far as you can, striving for at least the last 5-10 years, but do your best. Even if you can’t remember them all, having a strong baseline can help you quickly identify gaps in records.

Ensure You Have the Appropriate Legal Status

It is important to make sure that you are fully empowered to make decisions on behalf of your loved one with Alzheimer’s. Your relationship status with the patient may not be enough to legally give you access to your loved one's medical information. It is a good idea to talk to an expert about securing special legal status, such as Power of Attorney (POA), a legal document that allows an individual to name someone as their decision maker should they no longer be able to make decisions on their own.

Gather and Organize the Medical Records in One Place

It’s important to have all of your loved one’s medical records together in one spot. This makes it much easier for you and your loved one’s physicians to accurately map the patient’s medical journey and more easily share information between doctors. Fortunately, tools exist to make record management and access simple. A free resource like PicnicHealth helps you collect and organize all of this information. PicnicHealth’s intuitive timeline allows you to pinpoint data across the medical history, eliminating your need for keeping heavy binders filled with paper records or keeping track of multiple software portal logins.

Review the Medical Records to be an Informed Advocate

The better you understand your loved one's medical history, the better you can advocate on their behalf. Access and understanding of this information will help you to ask informed questions with physicians. Through regular communication backed by the data in the medical records, you can help your loved one’s care team develop a more successful care plan.

1. Build a support network.

When you’re juggling appointment times and insurance claims, putting a robust support system together might not strike you as the most urgent task. Investing the time to cultivate relationships with people can turn to in times of need will pay dividends. The next time you need a last-minute ride or just someone to listen, you won’t be on your own.

There are many condition-specific support groups and support groups for caregivers generally in person or online. In addition to the encouragement and empathy they provide, support groups can be a helpful source of tips, resources, and recommendations for navigating caregiving.

2. Stay organized.

The backbone of effective caregiving is organization. Keep medical information, appointment schedules, and medication lists in order. Use a planner or a digital service like PicnicHealth to stay on top of your responsibilities. This attention to detail can prevent future complications and reduce day-to-day stress.

3. Explore treatments and clinical trials.

We’ve seen incredible breakthroughs in treatment over the past couple of years, powered by patients and their caregivers participating in research. Stay in the loop about the latest in medical advancements and available resources that could benefit your loved one. Whether it’s a new therapy option or a community service that aids independence, being informed can make a world of difference in the quality of care you provide.

4. Make time for self-care.

It may seem self-centered to focus on self-care—but when you feel good, you can be a better caregiver. Whether it’s exercise, a mindfulness practice, a soak in the bath, or just time to rest when you need it, carve out those moments in the day when you can unwind, reset, and stay healthy mentally and physically. Think of it as building up your reserves of kindness, patience, and understanding—which can only benefit your loved one. No one can pour from an empty cup.