Blind Visions

It was a complicated case of the blind leading the blind.

In March of 2018, we took our son for his annual eye exam to get updated eyeglass prescriptions. That year he was 20/70 and 20/80. At almost 21, he was ready to get his driver’s license, but he’d need an updated prescription the following year. He was eager to drive.

A year later, April 15, 2019, we went back for the formality of getting those needed papers for the DMV. The visit rolled the same way as it usually does; pupil dilation, macula check, eye pressure, more eye drops. He’s sitting in the examination chair, and I take a goofy photo of him behind the photoropter, the piece of equipment where the doctor says, “Which is better? 1…or 2? 3….or 4?” We have a chuckle or two. The doctor comes in and runs through the first part – “which line can you read?” I’m watching the wall of letters as Tom attempts to read the letters. I’m looking at the first line, a single giant E. From where I was sitting it’s about 2 feet tall.

Thomas couldn’t see that. The doctor ran a few more simple vision tests to verify and said, “He’s 20/200 in the better eye. He’s legally blind.”

I was in shock. “What? What do you mean? He could see last year.” No way.

“Well, something’s changed and he’s legally blind now. I’m going to recommend a doctor at the University of South Florida Department of Ophthalmology. Their equipment is more sensitive than ours.” She wrote out the referral for us and sent us on our way.

Blind? Thomas is blind? He can’t get his license now. This has got to be a mistake of some kind. He graduated from high school. He’s an Eagle Scout. He’s in college for heaven’s sake. He has shelves filled with classics, and books are everywhere in the house. He loves to read. Nobody in our family is blind. Yes, a lot of us wear glasses, and there’s some macular degeneration, but no one is blind. Maybe he needs better lighting or stronger glasses.

We made the appointment with USF. The testing they conducted seemed medieval. After super-numbing Tom’s eyes, the specialist poked tiny wires into his eyeballs to measure responses to light. Then he placed a box (high tech? no, but perfect for the test). A light inside the box flashed, and the wires measured the number rods that sparked each time. I asked, “how many rods should spark in normal vision?”

He replied, “millions.”

“How many,” I asked, “of Tom’s rods were active?”

He paused. “About ten.” This explained his night blindness which we thought was due to his astigmatism. In early scouting, he never played Man Hunt at night because he tripped over things in the darkness. We didn’t know how bad this was.

For the color test, Tom had to arrange a series of square blocks in order of color to determine if his cones could discriminate colors in full light. The doctor said he had a practically non-recordable ERG consistent with retinal degeneration. The results of that test were a little more hopeful; in full light he could see general shapes and some definition. He referred us to a geneticist on campus.

A week or two later, a geneticist called us into his office. Tom’s father and I reviewed the whole situation with Dr. Griffith. The doctors’ reports, the vision complaints, and then we did a body system review. He asked us about numerous conditions and any abnormalities. Yes, he was overweight, but we thought it was that we had plenty of food available at home. And we, his parents, both carried some extra weight around. Nothing out of the ordinary here. When the doctor asked, “Extra fingers or toes?” My husband and I exchanged glances.

“Yes. He was born with an extra toe.”

The doctor finished his notes and said emphatically, “I’m pretty sure I know what it is. I’ll need bloodwork from Thomas, and saliva from you two to confirm it. It definitely sounds like a genetic cause.” We spit into two tiny tubes, and Tom had a blood draw. A week later we came in for the results.

“Your son,” Dr. Griffith explained, “has Bardet-Biedl Syndrome, or BBS for short. BBS Type 1. This is an ultra-rare double autosomal chromosome issue. The main three symptoms are obesity, polydactyly, and progressive blindness. When you said he had an extra toe, I suspected BBS. I studied it in college but never had a patient with the diagnosis.” He gave us the reports, information, and online sources and ongoing studies to check out. We asked plenty of questions, especially where did it come from? There’s nothing like this in our families. He recommended a clinic in Wisconsin that specializes in this condition.

We were stunned. Tom stopped wearing glasses because they no longer helped him. We had to find resources to deal with the “progressive” part of the diagnosis. He would eventually become completely blind. As a last resort, I took him to my retinal specialist. He said he could see the rods and cones organically in Tom’s retina, but they were basically lying down on the job, asleep. Some supplements could possibly benefit by slowing the deterioration.

As a family, we began to learn more an advocate for both the condition and the blindness. I typed up a handy summary of his health conditions to provide to all his doctors and professors. Because it was such a rare disease, we had to set up a ton of doctor’s appointments because BBS also affects the liver, heart, and kidneys. Baselines were necessary to measure any changes down the road.

Our first step was getting Tom accepted by the Florida Division for Blind Services. That was a gateway to receive support and technology to assist with his lack of vision. He learned how to use a cane and basic Braille from Lighthouse for the Blind/Visually Impaired. With that cane he felt a little more confident. Everyone stops when they see the white cane, and he was Moses parting a red sea of people.

And then he was hit by a car pulling out of parking lot. It was more of a bump that knocked him down, but Tom was definitely shook. He was walking home from the bus stop. The driver DID stop to help and asked him if he was all right. My son got up and insisted he was ok, which was probably the adrenaline running through him. He had the cane, he told me; why didn’t the driver stop for the cane? He realized he needed to make concessions for the idiots out there who don’t have much situational awareness. Two weeks later he complained about his wrist and asked if he could get an X-ray. It turned out his wrist was broken.

That brought us to the hellscape of insurance. We told the doctor what happened, and then The Insurance Company (TIC) denied the claim. They said it had to be handled by his car insurance.

We all had a laugh at that because was not a licensed driver and had no car. Then they said they needed the accident report since it was now a hit-and-run. We had to take a deep breath and send an extra-long letter explaining that Tom told the driver he was ok; because he was BLIND he couldn’t identify the driver or the car or the license plate number; there were no witnesses, and the cameras from two businesses nearby were obscured by trees. TIC finally paid the orthopedist.

Along the front of medical visits, we visited the Marshfield Clinic in WI. There he was examined by the doctors of nephrology, gastroenterology, neuropsychology, neurology, endocrinology, and a dietician. He had ultrasounds, chest X-rays, and a in-clinic sleep study. Tom met other people with BBS and discovered he was not alone. We also learned about a new medicine that would help him with his obesity. Of course, TIC denied it. I sent three appeal letters with the following verbiage (condensed):

“Since Thomas was first diagnosed with BBS in 2019, his health has deteriorated. BBS is a rare genetic disease that affects a series of proteins that are responsible for ciliogenesis. Because he has BBS1, many of his body systems are affected including rod-cone dystrophy, polydactyly, obesity, intellectual disabilities, kidney, and UG dysfunction.

“The obesity is driven by his need for satiation, which cannot be achieved because of impairment of the hormone leptin working toward a functional MC4R pathway. MC4R sends the signal from his stomach to his hypothalamus indicating hunger is no longer present. Because of BBS, the leptin receptor doesn’t reach the POMC neurons; this causes impairment to the MC4R and he thus he feels hunger all the time. There are approximately 2500 people with BBS.

“Tommy’s diagnosis came about because his vision deteriorated from 20/70 to 20/200+ over one year. Once we received the diagnosis, Thomas was devastated. He is now 24 and has tried many ways to cope with the multiple effects of BBS [long list of issues and his positive pre-emptive practices].

“Since there is no other FDA-approved medication for his condition, he is on his own to navigate his eating habits. There are no other alternative or over-the-counter medications for the impaired MC4R pathways. As of January 1, 2023, the US Pharmacopeia reclassified Imcivree from an “anti-obesity agent” to an “genetic, enzyme, or protein disorder: replacement, modifiers, treatment.” This medicine is medically necessary for him to have a more normal and productive life.”

The Insurance Company denied it because “it’s a weight loss drug.” However, the pharmaceutical company has a patient assistance program, and now Tom takes the medicine. It’s an injectable; a medication for BLIND people, and it’s a needle that draws up from the tiny bottle. Another irony. That and when he renews his handicap placard, he must produce a doctor’s note. That he’s still blind. Because blindness is reversible, right?

As a family we attended two national conventions for the blind and will be going again this year. We have learned about valuable resources, new technology, guide dogs, laws – all the areas he’s going to need to eventually succeed on his own. The biggest leap of faith we took was getting him signed up for the Conklin Center for the Blind. For up to eight weeks, Tom would be taught how to be independent including cooking, washing his own clothes, keeping his room and bathroom clean, mobility training, etc. We understand we won’t live forever, and we want him to be independent and prepared. This was also when I realized I needed to stop doing so much for him; he can do things on his own.

The BBS convention was supposed to be held in 2020 but Covid shut that down. The next convention was in 2022, and we met other BBS folks like Tom. We learned about the future of research that could possibly include gene therapy. Tom made new friends and traded numbers with many people. It was easy to spot the other attendees using Imcivree; there’s a tell-tale darkening of the skin. He keeps in contact with the friends he’s made along his journey.

Tom’s sense of humor has kept him sane, especially when people ask him about his disability. He has snappy and sarcastic comebacks for everything. He’s a disability advocate at his college and is part of the Florida Association of Blind Students. His AA degree in Paralegal Studies is coming up in May 2025, and he plans to transfer to another college. We support him in every way possible. Blindness hasn’t dampened his genuine love of life; he’s traded paper books for audiobooks, enjoys tech-assisted movie experiences, plays with his nephew, uses JAWS and adaptive monitors among other things. Where we were once blind, we can now see.