In 1965, the “rare diseases” field was still a fringe science in the United States. Unfortunately for me, that’s when I was born! On September 3, 1965, I came into this world and almost immediately my parents knew I was not a healthy baby. I wasn’t gaining weight. I couldn’t hold formula down so I either puked it up or…well…I’ll let you imagine the other scenario.
About 6 months went by and I kept getting sicker and sicker. My parents consulted every doctor they could find in the New York area but could not find anyone who could make a proper diagnosis. They were told that I had “failure to thrive”, a catch-all medical term for “this kid is sick and we don’t know why” and I was given up on by everyone. Except for my parents!
Finally, they located a young cardiologist from the Boston area named Robert Lees and somehow he recognized my symptoms and diagnosed me with Abetalipoproteinemia, an ultra-rare genetic disorder. He had me start on a completely fat-free formula, something that would be difficult to find in this day and age much less 1966! Finally, my parents had hope and I started to improve.
ABL as we call it is a genetic mutation of the MTTP gene that prevents the body from producing the enzyme that digests fat out of your diet. Because you can’t process fat you also can’t absorb the fat-soluble vitamins A, E, K, and D. The failure to do so leads to neurological, vision, and blood-related issues later in life if not treated properly.
The treatment for these vitamin deficiencies is extremely high doses of the required vitamins, and my parents started me on them as Dr. Lees recommended. All seemed to be going well now. My parents were taking me to Boston regularly for checkups with Dr. Lees. I was improving slowly, though my growth was behind the normal curve for children my age.
But then I started to get older. And I started to get angry. I started to rebel. I hated taking my vitamins and would resist taking them. As I got older I took them less and less. To be honest, other than being small and eating an almost nonfat diet, I tried to be just like any other kid. And I continued to refuse to take my vitamins.
Through my teens, into my twenties and thirties, I was too busy trying to live a “normal” life. I was working. I was driving. I followed my diet…mostly. I smoked. And I still didn’t take my vitamins. I honestly didn’t think they made any difference so I just didn’t take them.
As I got into my forties the consequences of not taking my vitamins for many years started to slowly become evident. My balance wasn’t great. I started having neuropathy in my lower legs and feet, a condition in which you lose sensation. And my vision slowly started to decline. But I was stubborn and I still refused to take my vitamins.
Somewhere around my mid-forties my vision problems started to become more obvious. If you don’t have proper amounts of vitamins A and E in your body your retinas will start to deteriorate, leading to peripheral vision loss, night blindness, and trouble with glare and bright light. Plus when you transition from a bright area to a dark area it takes a long time for your eyes to adjust. These symptoms are similar to the genetic illness Retinitis Pigmenosa. What I mean by that is that while I don’t have that genetic condition, the symptoms of my vision loss are almost identical to RP.
The first time I noticed that my vision was a problem was when I was driving on the freeway and a large truck was merging on from the right, I never saw him until he accelerated past me. That scared me! But I still tried to pretend that I was kinda normal and I still struggled with taking my vitamins.
A few years later it had become very obvious that my vision was impairing my ability to do daily tasks. Walking was becoming challenging because I would trip over things. Even big things like shopping carts sitting on the sidewalk I somehow wouldn’t see and would walk right into them. And I began to realize that driving was no longer safe for me.
That was a REAL turning point for me and I realized that my vision was so poor that I needed to make changes in my life. I could not drive anymore. I gave up my driver’s license to California and sold my car. I didn’t want to even have the temptation of driving. And a little while after that I was declared “legally blind” by an ophthalmologist. At that point, I contacted the Braille Institute and received training in using the visibility cane, which I use when I’m out by myself. It’s not perfect. I still trip or walk into things if I’m not very careful. But it helps to have some amount of independent living.
Since my early 40s, I have been helping to run a private Facebook group for ABL patients and caregivers. In 2018 a representative from NORD, the National Organization Of Rare Diseases contacted me and asked if I wanted to help “start a Foundation?” I had no idea what this was all about or if I could even trust these people with my email address, much less anything else about me.
But I cautiously agreed to get involved. In 2019 myself, along with Drs. Mahmood Hussain, Dennis Black, Richard Decklebaum, Cindy Bredefeld, Ettie Granot, and Mitchell Brin created the ABL+ Foundation, dedicated to helping people with three related illnesses, ABL, Familial Hyobetalipoproiteinemia (FHBL), and Chylomicron Retention Disease (CMRD).
It’s now 2024 as I write this. I’m 58 years old. I’m retired from paid work and living on Social Security in California. But to say I’m retired from “paid” work doesn’t mean I don’t work. I am involved with a dog rescue in my county, organizing Zoom orientations for new volunteers. And of course, the ABL+ Foundation keeps me busy. The work just keeps increasing. We’ve expanded our board. Written excellent documents and published peer-reviewed articles relating to ABL, FHBL, and CMRD. We’ve started a podcast called “Living Ultra Rare” where my co-host Barry Funkhouser interviews people who have an interest in our foundation and the illnesses it is concerned with. And this story will be included on the ABL+ Foundation’s new website.
As for me, I’m sticking to my diet. I take my vitamins pretty regularly now. I have balance issues and loss of sensation in my lower legs and feet due to neuropathy caused by ABL. While the state of California considers me “legally blind”, I still have some vision. It’s not great. My field of vision is very limited. I can’t handle glare at all, which means I can’t read anything written on paper or a white web page. Because of this, I use tools in my browser to invert the colors. And of course, I can’t drive anymore. Luckily I have a wonderful girlfriend, a roommate who is a good friend, and some family, and they all help me get around and do the things I want to do.
I lead the life I want to live! My girlfriend and I travel a lot. Just in the last ten years, we’ve been to New York, Florida, Las Vegas, Washington D.C., Mexico, Seattle, and Canada. My stepdad and I went to Rome in 2017. I have hobbies such as flight simulation on my computer, which I’ve been doing for almost thirty years. So I live a full life!
If you take anything away from my story please realize that ABL, and the other illnesses the ABL+ Foundation is concerned with, are all treatable with proper diet and vitamins. Are they “curable”? Not today, but with advances in AI, gene therapy, and modern medicine who knows what the future holds? By the time you read this maybe a cure will have already been realized!