My name is Nancy and I have Hereditary Spastic Paraplegia (HSP)- a disease that is genetically passed and is characterized by progressive development of spasticity/muscle tightness of the lower body and problems with mobility. My father also had HSP though at the time we did not know what it was and that his problems could be inherited. I had an awareness that my walking felt different as early as 2016. Full of stubbornness and denial, I trudged through the next few years frustrated with my walking but not really knowing what was going on.
In 2018, I was on a walking trail next to the river and had terrible difficulty making a 1 ½ mile walk. I also had frustrations with trying to lift my foot from the ground into the car. At that point, I talked my doctor. When she found that my lower body reflexes were hyperactive, she referred me to a neurologist. The process to be diagnosed was very intensive with genetic testing, all kinds of scans, bladder tests and EMG’s.
I started using a cane out of the house in 2018; in 2022, I got braces for my feet and ankles; in 2023 I started using forearm crutches out of the house and my cane inside; in 2025 I am trying a knee brace and am thinking about a scooter for long distances. HSP has left me managing frustrating mobility, the risk of falls, and constantly adapting my daily routines. I have had several falls, but so far have gotten away without breaking any bones! The worst fall was trying to add seeds to the birdfeeder! With changes in muscle tone, HSP has also affected my posture which gives me back pain. I have had to cut back to less than half time at work which is very challenging.
“Ironically, for most of my professional career, I worked as an Occupational Therapist in neuro-rehabilitation programs. I worked with people who had survived strokes, brain injuries and other neurological conditions. My patients had the same disabilities in mobility and movement that I am developing as HSP progresses for me. At times I think it has been an outstanding gift that I chose a career that gave me the experience in dealing with the issues that I have to struggle with everyday now with HSP. But it’s also a heavy load to know what I will likely have to deal with in the future due to the impacts and progressive nature of the disease. “
Having the chance to go to San Francisco and Yosemite is beyond belief! As a New Englander, I have never seen the big mountains and incredibly beautiful landscapes of the west.
In Yosemite, I hope to stay near the park, and have the chance to see the waterfalls and magnificent views. There is so much to learn about the wildlife, the plants/trees and the geology. I hope also to go to the Ansel Adam’s gallery to learn about his approach to photography and to see some of his pictures. I will need a scooter or chair to allow me to go on the accessible trails. In San Francisco, I hope to take a tour of the city, to go to some of the historical sites and to see the big Sequoia trees in a park north of the city.
My Health
Daily Challenges
Mobility: I’m using a cane in my house but have to be thoughtful of each step because things can get unsteady in a blink; I use forearm crutches out of the house which can be taxing on my upper body
Community access: The world is supposed to be accessible to people with impaired mobility but I am easily frustrated with stairs, getting through doors, and the interiors of shopping and public settings
I am dependent on catheters; it is a challenge to keep everything clean in public bathrooms
Ongoing Health Issues
HSP affects the muscle tone of my legs and also affects my bladder; I have to use catheters and be very cautious about UTIs; using catheters at home is not bad but public restrooms are a huge challenge
The spasticity gives me back pain and affects my endurance
Major Procedures
While getting diagnosed, I had to have a heavy batch of scans- MRI, CT etc; EMGs
I get Botox injections in the large muscle groups of my legs every three months to manage the spasticity/tightness
Each person diagnosed with HSP experiences different symptoms throughout their lifetime. Some cases are considered relatively minor, while others are more severe. Despite the variation among cases – every story is hard and full of loss.
To learn more about Rare Genetic Disorders, click below.
When I first heard the words Friedreich’s ataxia (FA) ring through the doctor’s office in Birmingham, AL, they were strange, empty words to a 16-year-old who had lived a seemingly “normal” life until my symptoms became noticeable a year prior. But this progressively cruel neuromuscular disease has made a rude introduction to my everyday life over the past eight years. Ever so slowly, this rare, genetic disease has robbed me of my physical abilities, making living an independent life practically impossible.
FA has made simple things such as walking, talking, standing and writing more difficult by the day. I currently use the one-two punch of a walker and wheelchair to get around. Despite fighting the disease through staying active and doing the most I can with the abilities I have, living an independent life has been a struggle after college. My driving abilities have declined, and I have struggled to land a job despite tireless work to improve my craft during my time at Auburn University, where I graduated Summa Cum Laude with a journalism degree in December 2023.
“This disease has taken from me again and again and isn’t done, either. But FA’s worst crime might’ve been its first. My disease began to play undercover villain around age 13, but it wasn’t obvious that it would be a life-altering issue until I had to quit sports due to puzzling physical difficulties in my sophomore year of high school. Playing baseball and basketball had always been my passion, and it crushed me not being able to play. “
In spite of these heavy losses, staying connected with sports has continued to fill my life in my post-playing days. Visiting all 30 MLB ballparks has become my top bucket-list item, and the fact that I still have 22 parks left to see reminds me there is still a lot of good in life left ahead of me despite the ongoing effects of FA. Receiving a Being Positioned journey reminds me of the joy available on this good but hard life I’m living. When dark days come (because they will), I will look back on this trip with a heart full of gratitude.
I was blessed to see five new stadiums in 2024, bringing my total to eight, and this trip will boost our quest forward. We will see two new stadiums and explore exciting new places on this journey. First, the Giants play the Dodgers in San Francisco’s Oracle Park, and then we’ll shuttle over to Sacramento to see the Athletics’ temporary home while they play my favorite team – the Atlanta Braves!
This journey also allows my friend Billy and I to continue honoring my late father, who was Billy’s best friend. Before my dad passed away unexpectedly in 2022, we made plans to start this journey seeing each stadium together as soon as I graduated college. Since he isn’t around for the adventure, Billy has graciously stepped in to do it with me. We’ll venture on this trip with my dad on our hearts and minds. And it’s all due to the generosity of Being Positioned.
My Health
Daily Challenges
Difficulty walking: uses a walker/wheelchair
Voice issues: decreased volume + clarity of speech
Extreme fatigue
Ongoing Health Issues
Ataxia: loss of balance + coordination
Loss of sensation in limbs
Neuropathy – can lead to body pain/discomfort + difficulty sleeping
Monitoring heart for cardiomyopathy: #1 cause of death in FA
Mental/Emotional health: depression + anxiety
Total Surgeries: 1
Each person diagnosed with Friedreich’s Ataxia experiences different symptoms throughout their lifetime. Some cases are considered relatively minor, while others are more severe. Despite the variation among cases – every story is hard and full of loss.
To learn more about Rare Genetic Disorders, click below.
“My name is Rhianon, I’m 45 and living in Seattle. I come from a small family in California that had NF2. I was diagnosed when I was around 4 or 5 (my right eye started turning), then everyone else was diagnosed soon after. “Everyone” being my mother, uncle, aunt, and grandmother (who died before I was born). My great-grandmother had married a man with NF2. As for my dad? I never knew him, mom left him when I was 2. I heard he was abusive and denied I was his.
I received my first hearing aid in first grade (but I was too much of a rebel to wear it). Except for my right eye being closed (ever since I could remember), I was in pretty good shape. But looking so different, in a small town, still wasn’t easy. People have stared at me my whole life, especially kids. I hated it. I thought I was pretty cool, but I never really felt like I “fit in”. That’s still relevant today, a misfit, but a proud one! Took me several decades to realize I’m awesome, it doesn’t matter if everyone can’t see that.
I spent the last 20 years living in Seattle… AND LOVING IT! So much to do in a city, and so much diversity. Worked as a web designer, got into photography, learned ASL, met friends from around the world… but my favorite part? My team of doctors aren’t far away, and they know NF2 very well. My mom used to have to drive long distances for that kind of attention.
“I had to quit working 10 years ago, and now live on disability (with HUD housing). Headaches and brain fatigue made focusing on a project for long hours impossible. My vision is getting worse, my hearing is gone (but I have a cochlear implant), my balance is poor, my spine has tumors, and so does my brain….but I ain’t done living yet! I’m a big believer in appreciating everything you can still do, no use of crying over what you lost. Enjoy what’s left while you can.”
This disease is beyond scary, and I do my best to not allow myself to crawl into that black hole of fear. I have to remind myself that I’m not alone, daily. I got a tattoo on my wrist to remind myself of that. ‘Someone’s looking out for you.’ (No, I’m not always successful at fighting the fear, but I have a great group of friends to help on those days as well.)”
My Health
Daily Challenges
Fully deaf; cochlear implant on left side (still don’t understand speech)
Right eye closed + no depth perception or control of eye
Severe dry eyes
Severe brain fatigue
Ongoing Health Issues
Slight facial nerve damage on right side
Deteriorating vision in left eye
Major Procedures
3 brain surgeries + shunt and cochlear implant placed
Optic nerve tumor removed
Spinal tumors + loss of balance
Proton therapy for brain tumor + skin cancer removal twice (caused by proton therapy)
Total Surgeries: 8
Making Travel Plans
“I don’t know if my ‘top dream’ fits your criteria, but my gut keeps telling me to try…”
Rhianon’s application letter immediately captured our hearts. A few months earlier, she had shockingly discovered who her biological dad was and that she had two half-sisters and three nieces. And it turns out they live in the area she grew up in – the Central Coast of California. Rhianon moved to Seattle 20 years ago and had always longed to make a trip home again, but it was too expensive. With a deep desire to meet her family (after being alone since the age of 17) and an eagerness to revisit her old stomping grounds, she took a chance and applied for a journey.
Rhianon is deaf because of NF2, but thanks to Facetime’s new caption feature, she had already spoken to her family multiple times. After texting with her sister and niece daily, she said it’s clear they’re not “afraid of me being deaf or having NF2”. Obviously, there was an emotional risk for Rhianon going on this trip, but we all believed the payoff would be more than worth it!
When it came to planning her itinerary, we took a slightly hands-off approach compared to our typical process. Rhianon and her family worked together to create a list of fun activities and set their schedule for the week. We wanted to do everything in our power to create a memorable and safe experience, but to respect the unique nature of the situation and let them sort out the details themselves.
Seeing her family and hometown were Rhianon’s top priorities for the trip, but she also wanted to spend a little time at the end relaxing on the beach with her partner. She also shared that she’s never stayed in a fancy hotel or ordered room service. We knew that a little dose of luxury was the perfect way to end her vacation, and what better place than Santa Barbara!
“Half of my excitement for this trip is to finally get to meet the family I never knew I had. The other half is just seeing “home” again, and sharing it with my long-time partner. Very excited to see my old “stomping grounds”, and what has changed. I know I have. I’m no longer the awkward girl that was ashamed of who they were. I’ve grown a lot since then, and want to prove it to myself. My positive attitude will outshine my physical flaws.”
Travel Docs
Being Positioned created a 6-day itinerary for Rhianon to eat, explore, and sightsee in sunny California.
First off, I have so much gratitude for Being Positioned, and how much they helped me to have such an amazing adventure. Finding out you have family is pretty amazing. But being able to fly to CA to meet them and see “home” again (after 20 years) was over the top!
Not only did we meet, but they welcomed me with open arms. Physical challenges didn’t matter, they accommodated and helped however they could. Was a good reminder that you really aren’t “alone” in the world, nor need to be isolated.
“It was a very full schedule, seeing Hearst Castle, beaches, small towns, enjoying my favorite restaurant again, lounging in a hot tub… but totally worth it. Having family along for most of it made it even better. The BBQ and playing Mini Golf with them were probably my favorite moments.”
Recipient_2022_Rhianon_Destination_California_24
Recipient_2022_Rhianon_Destination_California_40
Recipient_2022_Rhianon_Destination_California_41
Recipient_2022_Rhianon_Destination_California_39
Recipient_2022_Rhianon_Destination_California_38
Recipient_2022_Rhianon_Destination_California_37
Recipient_2022_Rhianon_Destination_California_36
Recipient_2022_Rhianon_Destination_California_35
Recipient_2022_Rhianon_Destination_California_34
Recipient_2022_Rhianon_Destination_California_33
IMG_6169
Recipient_2022_Rhianon_Destination_California_31
Recipient_2022_Rhianon_Destination_California_32
Recipient_2022_Rhianon_Destination_California_30
Recipient_2022_Rhianon_Destination_California_29
Recipient_2022_Rhianon_Destination_California_27
Recipient_2022_Rhianon_Destination_California_26
Recipient_2022_Rhianon_Destination_California_25
Recipient_2022_Rhianon_Destination_California_21
Recipient_2022_Rhianon_Destination_California_20
Recipient_2022_Rhianon_Destination_California_19
Recipient_2022_Rhianon_Destination_California_18
Recipient_2022_Rhianon_Destination_California_16
Recipient_2022_Rhianon_Destination_California_15
Recipient_2022_Rhianon_Destination_California_8
Recipient_2022_Rhianon_Destination_California_9
Recipient_2022_Rhianon_Destination_California_10
Recipient_2022_Rhianon_Destination_California_11
Recipient_2022_Rhianon_Destination_California_6
Recipient_2022_Rhianon_Destination_California_12
Recipient_2022_Rhianon_Destination_California_13
Recipient_2022_Rhianon_Destination_California_14
Recipient_2022_Rhianon_Destination_California_7
Completed Activities
Meeting Biological Family for the First Time • Hearst Castle • Mini Golf • Eating Lots of Mexican Food + BBQ • San Luis Obispo + Pismo Beach • Santa Barbara • Massages • Beach Day
What was my favorite moment?? The fact that the adventure isn’t over yet! I’m still in touch with them, and we are already making plans to hang out again. :)”
Getting to do all this stuff, without having to worry about money or doctor visits was definitely a highlight. Being free to enjoy the moment with no worries, is pretty priceless.
Normally I’m shy in groups, but that wasn’t the case here. There was no time for that! So I brought some mics to help my phone captions and did my best to stay in the conversations in the car or while eating. That helped my confidence a lot! I looked at getting to know them as a challenge, a good one. 🙂
Dad’s friend was with us a few times and knew ASL. That helped bridge the gap as well while she interpreted and helped me tease him a little lol.
Each person diagnosed with NF2 experiences different symptoms throughout their lifetime. Some cases are considered relatively minor, while others are more severe. Despite the variation among cases – every story is hard and full of loss.
To learn more about Rare Genetic Disorders, click below.
I clearly remember the day my brother and I were diagnosed with Von Hippel-Lindau Syndrome (VHL). I was six years old and he was ten. As kids, we had no clue what that meant for us. As it turned out though, the rough road ahead was just beginning.
This rare and disabling disease started to manifest when I was ten. My first experience was having a laser surgery to remove a tumor from my eye. My first major surgery was a lumbar surgery to remove a tumor from the spinal cord when I was eighteen.
I’m not sure what a “normal” childhood looks like, but my entire youth revolved around seeing my father (who also had VHL) go in and out of hospitals. His life was basically one surgery after another. His will to fight was unbelievable. Seeing him go through all of what he had to face in his life was inspirational. He was a good man and a great father. He helped me out all the way until the day he passed away in 2016 – three days before my 30th birthday.
“Starting in early adulthood, people with VHL may develop tumors in their brain, spinal cord, eyes, kidneys, pancreas, and adrenal glands. These tumors are most often benign (not cancer), but some can be malignant (cancerous). Due to this medical condition, I was not able to work as much as I would have liked and financially that has made things rough over the years. I have learned to keep a positive outlook in life and what doesn’t kill you makes you stronger.”
Going on my Being Positioned journey will be an amazing opportunity to make some memories with my wife and relieve stress. Something I read in a travel book stuck with me over the years and I would like to share it with you guys: ‘Traveling has the ability to take you out of your daily routine and into new surroundings and experiences and this can reset your body and mind.’ My dad would always bring us on summer road trips, and it was very therapeutic for my mind over the years and a way to take a short break from the medical stuff.
My Health
Daily Challenges
Dexterity – relearned how to walk twice and how to use hands
Walking – relearned how to walk twice
Ongoing Health Issues
Unable to regulate body temperature
Numbness in hands, feet, legs, and left side of stomach
Balance issues + incontinence
Major Procedures
Brain surgery
10 spinal cord surgeries
4 kidney surgeries
2 adrenal gland surgeries
Multiple laser surgeries on eyes to remove tumors
Currently on chemo
Total Surgeries: 17
Making Travel Plans
Justin applied to Being Positioned, hoping to give his bride the honeymoon they could never afford on their own. His wife, Edmarie, is from the Philippines. They moved to Seattle, and she was missing home and struggling with the endless gray skies. She loved the idea of a romantic beach vacation with her new husband. They were also in the process of having their home built through Habitat for Humanity, which requires a lot of time and effort. They were logging lots of “sweat equity” hours and needed to delay their trip a year so they could finish the requirements before their house was ready. This gave them plenty of time to dream with our team about possible beach destinations.
Justin wanted to take Edmarie to Disneyland so she could officially visit the happiest place on earth. And we knew LA was surrounded by plenty of beautiful beaches for Edmarie. Hiking to the Hollywood sign, seeing the La Brea Tar Pits, and driving along Route 66 all sounded like wonderful additions to their beach vacation. They also love trying new foods and wanted a location with incredible restaurants. LA quickly became the perfect destination. Giving them a chance to relax and enjoy the beautiful sunny weather, but also make fun new memories as newlyweds.
A month after moving into their new Habitat for Humanity Home they set off on their LA adventure! It was a summer they’ll never forget, and we loved giving them an extra special start to their marriage.
“We chose Los Angeles for our journey destination. I find that being around water is peaceful and helps me with my anxiety. I have always liked being around nature and it has a very calming effect for me. We are both looking forward to relaxing on the beach, dipping our toes in the water and smelling the fresh air. I am also really looking forward to exploring the city and going sightseeing.”
Travel Docs
Being Positioned created a 6-day itinerary for Justin to eat, explore, and sightsee in Los Angeles.
As patients, we often experience high levels of stress due to the diagnosis, the treatment, the side effects, the uncertainty, and the emotional impact of having a life-threatening disease. Therefore, finding ways to cope with stress is essential for people who have rare genetic disorders like us.
Being Positioned allowed me to get away from the reality of hospital life and to have time for myself away from the stresses of daily life. Driving down the Pacific Coast Highway, exploring a random place in Malibu or going off the beaten path was such an amazing feeling and a great way to relieve stress.
“Also If it wasn’t for the generosity of Being Positioned for granting this journey, we wouldn’t been able to afford a honeymoon, and this trip to California was an unofficial honeymoon for us.”
We explored multiple places around LA for 6 days. One of the most memorable places that we went was Disneyland. We were able to spend the entire day exploring, not to mention the multiple rides that we did. It was indeed the happiest place on earth. My wife and I will forever be grateful for this once in a lifetime opportunity that Being positioned has given us.
Recipient_2022_Justin_Destination_California_16
Recipient_2022_Justin_Destination_California_11
Recipient_2022_Justin_Destination_California_23
Recipient_2022_Justin_Destination_California_20
Recipient_2022_Justin_Destination_California_13
Recipient_2022_Justin_Destination_California_19
Recipient_2022_Justin_Destination_California_18
Recipient_2022_Justin_Destination_California_17
Recipient_2022_Justin_Destination_California_15
Recipient_2022_Justin_Destination_California_14
Recipient_2022_Justin_Destination_California_12
Recipient_2022_Justin_Destination_California_9
Recipient_2022_Justin_Destination_California_8
Recipient_2022_Justin_Destination_California_7
Recipient_2022_Justin_Destination_California_6
Recipient_2022_Justin_Destination_California_5
Completed Activities
Disneyland • Griffith Observatory + Hollywood Sign • Santa Monica Pier • Hollywood Walk of Fame • Venice Beach • La Brea Tar Pits + Museum • In-N-Out Burger • Couple’s Massage
I am a huge fan of Anthony Bourdain and I wanted to end this with one of his quotes:
“Travel changes you. As you move through this life and this world you change things slightly, you leave marks behind, however small. And in return, life—and travel—leaves marks on you.”
Each person diagnosed with VHL experiences different symptoms throughout their lifetime. Some cases are considered relatively minor, while others are more severe. Despite the variation among cases – every story is hard and full of loss.
To learn more about Rare Genetic Disorders, click below.
