Today is 'Rare Disease Day' (2/29), a day created by the National Organization for Rare Disorders. It's observed each year on the last day of February to help patients and their families share stories and promote awareness of the more than 6,000 rare diseases that affect millions of people worldwide.

Two years ago, I shared the story of Clifford, whose rare disease will eventually claim his life. Clifford is the 18-year-old son of my friend Dave, someone who has been one of my closest friends for nearly all of my adult life. The original story of Clifford and his family's struggle with Batten disease is here, and below.

Today, I offer an update on my friends, and their struggle with this insidious disease:

Clifford's physical decline seemed immeasurable for a long time. Although he has been somewhat unsteady on his feet for years, he seemed to be on an extended plateau. Now, just shy of his 19th birthday, he is much less able to walk long distances, and is no longer confident in his ability to use stairs. His family has had to build a ramp on the front of their house because of his decreased ability to navigate two steps to the porch.

He has grown increasingly frustrated by his inability to make himself understood. When I attended his graduation last summer, it was obvious and heartbreaking to hear how much his speech had deteriorated. "You have to seize upon words or word fragments, and ask him to clarify," his father said. His younger brother Isaac, now 13, told me, "Sometimes you just have to say, 'Yes, Clifford,' or 'OK, Clifford.'" In print, his instructions to me may seem like he is impatient or condescending toward his brother, but in reality it's just the opposite. His tack is to simply sooth Clifford, and make him feel like he's being included in the conversation.

As for his family's well being, his father Dave says life with Clifford can be an emotional roller coaster.

"The kind of moments that the therapist says, 'you need a ramp,' just a few months after the same therapist was marveling at his strength, kind of catch you..."

But for now the Dahls continue to plug along with their various pursuits, trying to make Clifford as happy and comfortable as possible. Overall, Clifford is a happy guy who rarely complains. He's never known life any other way.

Original story, published February 27, 2014:

C Dahl

 

This is my friend Clifford. When he was diagnosed with Batten Disease ten years ago, doctors told his parents to take him home and enjoy the time he has left. Batten Disease is fatal 100% of the time. There are no exceptions. There’s no such thing as a ‘mild form’ of the disease.

Rare Disease Day is observed this year on February 28th. The objective of the day is to raise awareness with the general public and lawmakers about rare diseases, and how they impact the lives of patients and their families. Rare diseases touch the lives of about one in every 20 people.

Batten Disease is just one of over 6,000 rare diseases that have been documented. There are only about two to four cases in every 100,000 births.

Clifford is the son of one of my oldest and dearest friends, Dave. Prior to Clifford’s diagnosis, we led similar lives. We became friends in our 20s while we struggled to establish our respective careers. He was my best man and I his, as we married and started families within months of each other. 

Blindness is the most-obvious symptom to people. If that were his only problem, this would be something we could easily deal with.

Clifford’s life started out normally. We visited them in Illinois just months after he was born, right after finding out my wife was expecting twins. Holding him as a baby, I had no idea what would eventually unfold. None of us did. He walked, talked, sassed, played, and hit the usual childhood benchmarks at more or less the right times. He developed an insatiable love for sports. At a young age, Clifford set his sights on being a baseball announcer for the St. Louis Cardinals.

Life changed forever in November of 2003. As he began 1st grade, he was having difficulty seeing. He had begun wearing glasses in kindergarten, but his visual acuity had deteriorated further. After numerous tests, a specialist in Chicago confirmed that Clifford had Neuronal Ceroid Lipofuscinosis (NCL), or Batten Disease.

More information on the disease is available here, but Batten Disease is essentially a buildup of substances called lipopigments (or fatty tissues) in the cells of the brain, eyes, and other tissues. The disease causes the death of neurons in the brain, retinas, and central nervous system.

C Galloway

Its progression is slow. Kids with the juvenile form of Batten Disease (which Clifford has) are usually diagnosed when they are 5 to 7 years old. Usually the first symptom is vision loss. Clifford was completely blind just months after his diagnosis. “Blindness is the most-obvious symptom to people,” Dave once told me. “If that were his only problem, this would be something we could easily deal with.” As the fatty tissues slowly kill cells in the brain and central nervous system, cognitive ability and motor skills deteriorate. “Emotionally and socially he is much like a preschooler,” his mother Corrina said. “Physically, his speech has really gone downhill. We are constantly asking him to repeat stuff. His walking has gotten more difficult, he can be really unsteady on his feet, falling easily. He uses a wheelchair much more often than he used to.”

A “sentence” is usually how I characterize what Dave and his wife have been handed. Their son will inevitably die, and they have been sentenced to spend 20 years or so watching it happen, ever so gradually.

The backward steps he takes seem more pronounced to me. Since we live 450 miles apart, our visits are infrequent. Each time I see them, Clifford’s speech is more unintelligible than it was previously. But judging his regression on a mental, emotional, and social level is more difficult. Although he exhibits the naiveté of a toddler, his cognitive dexterity can be unpredictable. He was fascinated to learn that one of my stepsons is a vegetarian. Years later, he remembers that fact, but struggles to understand the concept of a blended family. (The picture above is from 2012 when our families met in Chicago for a Tigers/White Sox game. I only recall that Detroit lost. Clifford could probably tell you the score, who pitched, and plenty of other details.)

C Dahl

A boy who is the size of a typical teenager, but has the state of mind of a much younger child can be unbelievably frustrating to those close to him. But his big heart, and bigger-than-life personality make him truly endearing.

Younger brother Isaac was an infant when Clifford was diagnosed, and because Batten Disease is a genetic recessive disorder, there was a 25% chance he would have it as well. The Dahls agonized for three years, waiting until he was old enough to be tested, and were finally given the news in 2007 that he does not have the disease. “I think the hardest part for Isaac is that he has taken over the role of the big brother,” Corrina said, noting that he does not remember a time when his brother was healthy.

“For the most part, we go on with our lives like everyone else, going to school and work and other activities. But as the years go by, and we see the physical changes, and as the gap between him and his peers widens, we are hit by the sadness of knowing the he will continue to decline both mentally and physically, and we can’t change that.”

...as the gap between him and his peers widens, we are hit by the sadness of knowing the he will continue to decline both mentally and physically, and we can’t change that.

At 16, the future is bleak. Batten Disease is fatal 100% of the time. The Dahls were told Clifford would probably live into his late teens or early 20s. Only a handful of Batten kids see their 30th birthday. As the disease slowly gains more ground on his central nervous system and brain, he’ll eventually become incommunicative and bedridden.

“It certainly has changed my perspective about what to complain about,” Dave told me. My advice to him has always been, “Make the most of the time you have with him,” and “Remember, it’s better to have loved and lost…” It’s sage, but it’s also a load of crap, because I truly don’t understand what it’s like to walk a mile in their shoes.

Since Batten Disease it is classified as a rare disease, funding for research is extremely limited. The Dahls were invited to participate in a drug trial that took place at the University of Rochester in New York. “Clifford was excited to take part, even though he did understand that the medicine would not help him at this time,” Corrina said, explaining that it was only a safety study to test patients’ tolerance for certain medications. “It probably won’t be a treatment option in time to help him, but it may help someone else [in the future] so another parent doesn’t have to hear the words, ‘No treatment, no cure.’”

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For more information about Batten Disease, visit the Batten Disease Support and Research Association.
For more on rare diseases, visit the Rare Disease Day homepage.

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