Blog post originally written by the AllStripes community team. AllStripes was acquired by PicnicHealth in 2023.
Dana Faerdy’s son Quinn had a heart transplant not long after he was born. Around the same time, doctors discovered he had alpha-mannosidosis, a rare genetic condition that can affect many organs and tissues throughout the body. A bone marrow transplant can improve some of the outcomes of alpha-mannosidosis, but Quinn’s previous heart transplant meant a bone marrow transplant could be risky, and his family met with a number of hospitals before making a decision.
When Quinn was eight weeks old, he was having some breathing issues. We found out he had dilated cardiomyopathy, which is a heart condition. So at four months, he ended up having a heart transplant. The doctors never found the cause of the dilated cardiomyopathy; sometimes it's genetic, sometimes it's from a virus.
Over the next few years, Quinn just wasn't developing as he should. When I would bring it up to the doctors, they would say, "Well, it's because he spent so much time in the hospital. He's delayed on all his milestones." He didn't walk until he was two and a half, and he wasn’t talking. We also found out he was hard of hearing, with very, very poor vision. I would keep bringing it up and I would keep getting blown off.
Finally, I was typing his symptoms into Google, and I went to my husband, "I think he has Hurler syndrome,” which is in the same family as alpha-mannosidosis. So we went and sought out genetics at Columbia Presbyterian, where he had his heart transplant. I went over all my concerns and what I was seeing. So they said, "All right, we'll do whole exome sequencing.” I was told it could take up to six months, and about five or six months later they called and said, "We do have a diagnosis. He has alpha-mannosidosis.” My husband has the gene deletion, and I have the gene mutation. Because alpha-mannosidosis weakens your immune system, doctors thought he may have gotten a virus that didn't show up in tests, and that’s how he got the heart condition.
When we first got the call with the diagnosis, it was devastating. I asked them, "What can be done about this?" They said, "Well, there's not really a cure. The only thing is a bone marrow transplant." But Quinn having had a heart transplant made that riskier and trickier to do.
We just sat down and researched, and for the next year, we traveled to different hospitals. We went to Dana-Farber in Boston, to Seattle, to Minnesota, to New York — all these different places that do bone marrow transplants to see what they thought about Quinn having a bone marrow transplant after having had a heart transplant. Some places said, "It might be okay." Some didn’t advise it.
In the meantime, we found out that one of Quinn’s brothers was a perfect match. So that was good news. After visiting every place, we decided to have the bone marrow transplant done at University of Minnesota Children's Hospital because they specialize in lysosomal storage disorders (alpha-mannosidosis is a lysosomal storage disorder), specifically Dr. Paul Orchard. We ended up moving the family out to Minnesota so Quinn could get his bone marrow transplant in 2015. My husband was always onboard with having the bone marrow transplant. I was not. When we first found out, I was really hoping for enzyme replacement therapy, but it wasn’t available yet. I had to come around.
The bone marrow transplant went well. We were able to have Christmas back at home. Since the bone marrow transplant, there's been a big difference. Quinn’s hearing improved a little. His vision improved a little. His mobility took off. Before that, he struggled walking long distances. Now he plays soccer on a team, and he plays basketball, football and baseball all day long with his dad and his grandfather.
Even his facial features have changed, which is odd. When we got home from the transplant, Quinn was five and a half, and he got potty trained as soon as we got home. Everything just turned around for us. His speech is coming along, but we do some sign language if he doesn't have his hearing aids in, or if there's something we're struggling to understand. He definitely has lots of learning delays.
Every minute and every milestone is so much bigger to us because there are things we weren't sure he would ever be able to do.
Now he’s so active. He plays all day long. He's always happy, and he finds joy in everything. We've also learned that everybody goes at their own pace, and that's fine with us. He's 12, and he’s not reading yet, he doesn't know math, but that's okay with us. He will when he’s ready.
I remember how I felt when we first found out Quinn’s diagnosis: I wanted to talk to anyone else in a similar situation just to have a glimmer of hope, or to see what somebody else's life is like. I would love to be that for other people. AllStripes has been really helpful for me, because they reach out to me — "What can we help you with?" They check in. For somebody like me, with all my family has going on, I need that. Sometimes I need a little boost.
Join our early breast cancer registry to be counted and share your story with research.
Learn More
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.
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.
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.
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.
Learn more about PicnicHealth’s commitment to the Alzheimer’s community and the Alzheimer’s Association
Learn MoreWhen 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.
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.
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.
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.
Easily manage all of your loved one's medical records and contribute to ongoing Alzheimer's research with PicnicHealth.
Learn More(from 13 patients with LC-FAOD)
38% Female
15 providers / patient
7.5 years of data / patient
(from 13 patients with LC-FAOD)
We hope you found this session informative! Sign up for PicnicHealth’s Alzheimer’s research program below.
Join Now
Download this list to save onto your phone or print it out for your fridge!
Download this poster to save onto your phone or print it out for your fridge!
Explore the essential takeaways from Victoria's Webinar, along with some resources that she shared.
Before your video call:
On the day of your video call:
Receive up to $55 for your participation:
You’ll receive an email from Celestra Health with your account details. Follow those steps to set up your account.
