Living Rare

Living Life with a Rare Disease


Drew Smith


Living Rare

In 2010, I graduated from UMass Amherst with a bachelor’s degree in Chemistry. I thought I would go to dental school as I always wanted to be a dentist. I also had a knack for teaching as I was a lacrosse coach and a chemistry lab assistant during college. When dental school did not pan out, and having some teaching experience and a natural ability to coach, I took a job as a ski instructor at Mount Snow. It was there that my passion for teaching took off.

I took this skill into the classroom at Northwood School, a small private boarding school in Lake Placid, New York. I taught chemistry and math. I coached hockey, lacrosse and soccer. I was a dorm parent knowing all the students. My teaching experiences at Northwood had affirmed that I wanted to make my career in education. I decided to further my education because it will account for my personal commitment to educational instruction and allow me to apply my experiences so I went on to NYU to seek a master’s degree.

In the summer of 2014, right after I graduated with a master’s in Education from NYU, I was diagnosed with chorea-acanthocytosis. It is a very rare genetic neurodegenerative disease. It is a progressive movement disorder that causes involuntary movements of the extremities, mouth and tongue. There are about 500 – 1000 people worldwide that suffer from it. It is like Parkinson’s and Huntington’s Disease. It causes my gait to be unsteady. I have decreased balance, strength, coordination and fine motor control. Sometimes I fall or often bump into objects and need the wall for support. Eating is a challenge. My condition makes it hard for me to communicate. I slur my words, speak softly, and take extra time to process information and respond to it. Conversation is tough for me and requires patience. Treatment is symptomatic. Research is ongoing and funding is needed!

Before this diagnosis, I knew something was wrong when I had difficulty catching a lacrosse ball. While playing lacrosse since 6th grade, my coordination of catching and throwing a lacrosse ball was second nature to me. Playing through high school and college, this skill was never a challenge. After many years of using this skill, in the spring of 2013, it was strange that – catching a lacrosse ball, became a challenge. I thought maybe I was just rusty, but as the season progressed, my coordination did not get much better.
This was my first hand of cards dealt.

Another change I noticed was eating. During college, I was on the go, grabbing food and never truly focusing on my eating. However, when I sat down to eat food I noticed the food falling out of my mouth. This was strange to me. Every time I ate, I kept noticing food falling out of my mouth. Being away from home no one ever commented on it. It was embarrassing.
This was my second hand of cards dealt.

While eating became more and more difficult, I began to notice other changes; my gait was off, I could not sit still, tasks like holding a marker or picking up a pencil was a challenge. I was grinding my teeth, clenching my jaw, and biting my lips. I knew something was wrong so I spoke up and went to the doctors. It started with a SLP and an ENT doctor then a neurologist, a MRI, an EEG test, a movement disorder neurologist, blood work, more doctors, finger test, heel toe tap test, to a Whole Exome Sequencing Test, led to the diagnosis of Chorea-Acanthocytosis.
This was my third hand of cards dealt.

Accepting the news of my condition, I never asked, “why me?” I complied with the medical advice in a mature and positive manner. I did not dwell on the situation and remained optimistic. The more I learned, the more I understood the gravity of the condition. It was only one blood test, but a blood test that gave answer to life. I found something else, something more unique. And a revelation of understanding what life has to offer, and has given me the ability to live with a rare disease.

I was always very active. I played lacrosse in high school and club lacrosse in college. I played hockey during my youth and love to skate. I taught kids how to ski at Mt. Snow. I was an avid runner, running in many 5K’s and half marathons. I love to bike, hike and walk. In addition, I was a high school chemistry teacher for three years in western Massachusetts. I participated in many school events and coached lacrosse! It kept me busy. I was happy, married at the time and things were going well.

However, I was let go in June of 2017. It was a shock but also a blessing in disguise. For the next year or so there was a decline. I applied and interviewed for many job opportunities. But could not land one. No one would hire me. I became weak, defeated and depressed. I was alone for most of the day. I would periodically go skiing on weekends, would go for a walk or go out to a social event but was anxious and unmotivated to enjoy. I stopped doing the things I love to do. For personal safety I stopped driving. I was in a bad situation.

In the summer of 2018, I moved back home to Lexington to be with my family and closer to the doctors in Boston. I am living at home with my parents who are the best!

They noticed a decline in my health. My movements were getting worse. I was losing weight because I was burning calories as I was moving so much. So, we inquired about Deep Brain Stimulation. After being approved and deciding to go for it, and knowing the uncertainty of its’ results, in October of 2018, I had Deep Brain Stimulation (DBS) surgery. Leads were placed in the Globus pallidus regions in my brain and the generator implanted in my left chest. DBS is used to treat neurological conditions such as Parkinson’s disease (PD), essential tremor, and multiple sclerosis. While it does not cure these conditions, DBS can ease symptoms and decrease the amount of medicine needed. Since DBS is mostly used for tremors, dystonia and Parkinson’s patients’ doctors have been using me as a guinea pig and have publications out.

We, including the doctors, are sailing through uncharted waters with DBS for this disease. I see my neurologist regularly at BIDMC to find the best program settings to give maximal effects of DBS!

When the generator was turned on in November, I immediately felt calmer internally and externally. I have had an improvement in my walking and less involuntary movement. I can actually sit still for periods of time which I was not able to do before DBS. I feel better, look better and I was doing a lot better than the summer of 2018. It has been a roller coaster ride but a good one. I was staying active, running, boxing, skating and golfing all of which I struggled with during the spring and summer of 201 do them with ease. I was stronger! I was trying to run daily and what not. I do the things I love to do!

Unfortunately, I am not teaching because of my health but staying active has been my job. I started going to an adaptive exercise class in a neuro wellness program for people with brain injury /neurological conditions. It is through Supportive Living Inc. They offer many different classes. I participate in a 1-hour group gym program 2 times a week with 1:1 training. I also take private sessions with a Rock Steady certified boxer 1-2 times a week. My instructor is aware of my condition and goals to improve strength and balance. It has been very helpful and I really like it. I run, skate, golf better than I walk. I love to write poetry as well.

Eating is also very difficult for me. My tongue pushes everything out of my mouth. I had lost a lot of weight. My caloric intake was less than what I was burning. Meals were a process and a mess. I was down to 120lbs. from 140lbs.

In the fall of 2019, I had a feeding tube put in. While my swallow is good I was not keeping the food in. Even at a high daily caloric intake goal I was not gaining weight but losing weight. The way I see it is to gain weight through a feeding tube, it may help with my movements and help with DBS. I can eat and drink but it is still difficult to do so. Having a feeding tube has alleviated stress and worries associated with eating and has beefed me up.

Up until March of 2020, before everything had shut down I was attending a fitness class at the neuro wellness center. I was going twice a week and boxing once a week. I also was bowling with friends and family. Since the lockdown I have been listening to podcasts. I go for walks and ride my bike, and organize. I have organized my DVD collection and CDs, photos and videos. I organized a massive comic book collection and started to organize baseball cards. I write poetry and watch TV (a lot of Netflix!) On Netflix I recommend the shows The Pharmacist, How to Fix a Drug Scandal, and Unnatural Selection. I wrote this w

Check them out! I got good responses from others! This was published in the advocacy newsletter that supports patients with NA.

Because of the pandemic, I am feeling cooped up but have found solace in doing things like going for walks and writing poetry! I also feel grateful I am healthy. I wrote a poem about the disease! I also wrote a poem for my grandfather who turned 100 in February! I started this blog to keep busy as well.

This awful disease has progressed and has reared its ugly head. I need more help with every day, things. From personal hygiene to getting dressed.  I am limited to very little. Not by choice but by condition. My weight has been steady at 121.  I am anxious.   I do not get out of the house a lot.  I struggle with walking, and it is hard to sit still.  I have little activity this winter.   I also am weak and unsteady.   I am having a hard time communicating. I repeat my words. I stay in bed for most days.  I need assistance and require a wheelchair.  I have been researching and find it disheartening that there is no cure. With what I can I try to raise awareness.

Since funding for research is needed I took it to social media to raise awareness of the disease and to raise funds for research. The rarity of the disease and known cases are low, there is not a lot of funding! So to keep social distance I created an online fundraiser through Facebook and asked for donations for NA research:

When this fundraiser closed, the Advocacy received $5000 from my campaign to raise awareness and funds. I felt grateful and accomplished. I have an opportunity that will open doors to future fundraising goals for further research into NA. With this success I have been doing research finding different paths for a cure. Funding is limited, I am big on finding a cure and being an advocate for those that cannot! I find myself hitting dead ends but keep on reaching out to biotech companies that have promising hope for a cure to different rare diseases. With the advancement in technology these days there will be a cure!

Now, I play the cards I’m dealt. Knowing what I have answers the unknown and allows me to live each day to the best I can. It is a challenge with good days and bad days. I have learned that living in the moment is key. I am grateful for the overwhelming support of my parents and the strong support system of family and friends. As each day comes, I live it the best I can!

That is what it is. We cannot change it, we just must decide how we will respond. We cannot change the cards we are dealt, just how we play the hand.

I feel proud and honored to share my story and to spread the word that we are 500 rare!


7 thoughts on “About

  1. Drew, what a fabulous story. You are the strongest person I know. Keep fight and hopefully soon they will come closer to a cure.❤️


  2. Drew what a fabulous story. You are the strongest person I know. Let’s just keep praying that a cure is in the near future.❤️

    Liked by 1 person

  3. Great story Drew ! It is what it is and to live life to the fullest everyday in the most positive way. Thank you for your story it makes me feel uplifted knowing that my partner is not alone.


  4. Wow. Thanks for sharing this and your journey. I like the way you write about your experience. with this. I worked with your mom in Lexington, and just noticed her post on FB this morning. Thank you for discussing this. You can do so much with your writing…again, thank you. ~Megan


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