Argosy University Blog

Gaucher Disease: A Story of Science and Humanity

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By Wayne D. Rosenfield, Ph.D.

October is Gaucher Disease Awareness Month, and the first day of October each year is International Gaucher Day. Until now, you most likely never heard of Gaucher Disease. Most physicians will recall some brief mention of it in medical school, perhaps as part of a list of other rare disorders. A rare disease was defined by the Orphan Drug Act of 1983 as a condition that affects fewer than 200,000 people. Gaucher Disease, affecting perhaps as many as 60,000 people globally, is the most common of a class of conditions called lysosomal storage disorders.

And here is where Gaucher Disease comes out of the textbooks to become a real-life adventure story. Roscoe Brady, MD was early in his career when he first encountered people with the unusual constellation of Gaucher disease symptoms: Bleeding, anemia, fractures, swollen liver and spleen, degenerated joints, and episodes of severe, unremitting pain. There had already been about a century of research, beginning with a doctoral dissertation at the University of Paris by Philippe Gaucher. Dr. Gaucher had puzzled over a patient who had some signs of leukemia, but who had died from something else. Dr. Brady had the benefit of later research showing that the symptoms of people with Gaucher Disease were caused by an excess of a fatty substance in their lysosomes. These lysosomes are tiny structures, inside cells. And the lysosomal storage, and then the person’s symptoms, were because of a very minor deficiency of an enzyme.

The solution seemed simple. Inject the patient with a supply of what was missing and the problem should be solved. “Voila!” as Dr. Gaucher might have said. Dr. Brady’s research team at the National Institutes of Health worked to extract the necessary enzyme from donated tissue. Painstakingly, they accumulated enough enzyme to attempt to treat a living, suffering patient.

The volunteer who had been diagnosed with Gaucher Disease received the enzyme by intravenous injection. Dr. Brady and the clinical research team anxiously checked the patient’s blood chemistry values over the coming days. There was no change in the patient’s condition. The treatment did not work.

Dr. Brady and his researchers pondered what could possibly be going wrong. They knew that they had the right chemical, an enzyme. They knew that this patient was deficient in this enzyme, which led to the symptoms and complications of the disease.

The enzyme needed to travel through the patient’s blood, through the outer walls of the body’s cells, and into the lysosomes deep inside individual cells. They knew that the enzyme’s chemical structure was that of a protein. And they realized that the body is very good at digesting proteins, especially foreign ones.

Perhaps the researchers were discouraged. But the history of science is full of accepted null hypotheses. Even a negative result adds to the body of knowledge. This enzyme replacement should have worked. What were they missing?

Scientists sometimes refer to benchwork, the tedious basic research that reveals essential truths, contributing to the body of knowledge. Truth discovered empirically adds to the body of human understanding. And we never know when we will need knowledge off the shelf. Dr. Brady learned that the membranes of lysosomes, the walls of tiny structures deep inside of other structures, have mannose ligands, tiny molecular receptors just waiting for a certain type of sugar.

“What would happen,” they wondered, “if our precious enzyme had a mannose molecule stuck onto the end of it? Would it survive the journey through the bloodstream long enough to find the lysosomes? And if it did, would the lysosome, itself a digester sort of thing, accept it inside? And once inside, would the enzyme still have enough oomph to gobble up the accumulated substance that causes the disease symptoms? And can all of this happen before the body’s own defenses against foreign invaders rip the enzyme to shreds?”

It seemed like slim odds. But success is only possible if we try. And a young boy, not even a teenager, was sick and would likely die. His mother was a physician who had followed Dr. Brady’s work for years. Her precious son would be the first to get the mannose-terminated enzyme.

I once heard this mother describe the scene of the first infusion. “It was very dramatic,” she said. The research team needed to be ready for any possible emergency. Would the boy have a life-threatening allergic reaction? Would his body respond in unexpected ways?

The enzyme dripped slowly into the boy’s intravenous line, and he remained just as happy and aware as before. In the coming days, laboratory results showed significant improvement in multiple biomarkers. Dr. Brady had done it!

The drug still needed much more testing, especially with regard to safety and effectiveness in more people, to win approval from the FDA. The first version of this enzyme replacement therapy was available for sale to the public in 1991.

Two years later, I was present at a meeting of the National Gaucher Foundation, with dozens of people who had been sick with multiple symptoms that affected their productivity, their longevity, and their ability to live normal lives. Dr. Brady took his place at the podium. There was only limited applause, because many of those in attendance were still pulling themselves up on their crutches to give him a standing ovation.

Then there was applause.

Gaucher Disease became the first lysosomal storage disorder to be treated with mannose-terminated enzyme. There are several dozen lysosomal storage disorders, some with even more devastating complications than Gaucher Disease. About five of them are now commercially treated.

But this month is about Gaucher Disease, a tenacious scientist, a brave mother and her trusting son, and the value of basic scientific research to find the Gaucher disease treatment.

Author Bio

Dr. Wayne Rosenfield worked for many years in Connecticut to develop and implement inpatient treatment programs for persons with chronic and debilitating mental disorders. His interest in addressing the most intense problems led him to disaster mental health deployments with the Red Cross following the 2001 terrorist attacks, and then to crisis work in hospital emergency departments. He was again with the Red Cross in Newtown the day after the shootings at Sandy Hook Elementary School. Engaged with Connecticut’s response to Sandy Hook he was part of a statewide initiative to treat trauma in children. Having relocated to Florida, he is part of a research team examining a novel treatment for combat PTSD, and he performs psychological assessments for a group practice. He is a frequent speaker in the US and internationally on the subject of rare diseases. He is a professor in the Argosy University School Psychology program in Sarasota. His highly rated book, Great Necessities, is available on Amazon.com.

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For Argosy University Graduate Kareema Fletcher Lewis, A Second Chance is All She Needed

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Kareema Fletcher Lewis knows just how powerful the kindness of strangers can be.

Back in 2012, Lewis—then a single mother with four children, including two with special needs—was facing challenges that would have broken the spirit of someone less resilient.

Lewis had completed her associate’s degree when her oldest son was in eighth grade, and she was determined to earn her bachelor’s degree in psychology before he graduated high school. When she enrolled at Argosy University in Atlanta to study psychology two years earlier, she was the first in her family ever to attend college. But with one daughter in remission from leukemia and a newborn with Down’s Syndrome, the obstacles were overwhelming.

“It became more than I could handle,” remembers Lewis, now 35. “I had four kids under the age of 12, including one daughter with serious medical issues and another with special needs. I failed one of my classes because I had no time to study, and I was under incredible financial pressure. Even though I was only eight classes away from graduation, something had to give—and that something was my education.”

While she knew she made the right decision under the circumstances, it was one Lewis often regretted. Three years later, in 2015, she was feeling frustrated and defeated. She was working at a community services center that provided second chances to people recovering from addiction, but she felt like her own life and career had come to a standstill.

“I was passed up for jobs because I didn’t have the educational background they required,” she explains. “I knew I needed to complete my degree in order to create the career and life I wanted for my children, but I just couldn’t see how I could make it work.”

Lewis decided it was time to try creating a second chance for herself. She picked up the phone and made a call that would change her life.

“I decided to call Argosy University Online, explain my situation, and see if anyone could or would help me,” she recalls. “I connected with an admissions representative named Richard Gerhardt. After I explained my situation, he said he’d call me back in an hour—and he did! He went so far above and beyond what he needed to do. He found a scholarship I was eligible for. He showed me how to utilize prior learning assessment in some of my classes. He connected me with John Barley, a finance counselor at Argosy who helped me apply for student loans and created a payment plan that I could manage. The encouragement and kindness Richard and John showed me gave me hope at a time when hope was hard to find.”

Her decision to return to college reaped immediate rewards. Soon after showing her employer proof that she had returned to college, she received a promotion. Eight classes later—on December 3, 2016—Lewis graduated with her Bachelor of Arts degree in Psychology, with a concentration in Criminal Justice. It was also a big day for two other reasons. Earlier that day, she spoke by phone with her father, whom she’d never met. Later that night, her boyfriend proposed marriage.

With all of the good things happening in her busy life, Lewis was ready to exhale and slow down. But when Richard Gerhardt encouraged her to consider pursuing her master’s degree, she listened.

“At first, I just laughed,” Lewis recalls. “I had already accomplished more than I imagined was possible. But the more we talked, the more seriously I considered it. He pointed out that I’d already developed a routine, a structure and study habits that worked for me. When he showed me how I could earn my master’s degree in 13 months, I decided to go for it.”

Now just four classes away from her completing her Master of Science in Human Services, Lewis is on track to graduate in December.

“It’s amazing how the kindness of strangers can change a person’s life forever,” says Lewis, who recently started a new job as a Child Protective Officer with the Georgia Department of Family and Children’s Services. “When I called Argosy, I never expected that the person who answered would become such a powerful influence in my life. Even though I’ve never met Richard in person, I feel like he’s a friend. Every step of the way, Richard, John and so many others at Argosy have been there for me. I did the work, but they helped me believe. I’m hoping I can meet them one day to give them a hug and to say thank you in person.”

Lewis is certain that without their support, her life would have been very different.

“It hasn’t always been easy,” she says, “but it’s absolutely been worth it. The process of earning my two degrees has allowed me to be a role model to my children, to show them anything is possible. That means the world to me. I love knowing that my kids are as proud of me as I am of myself.” ###

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Developing Good Habits

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CREATE GOOD HABITS; Change small things! Simply stated, create good habits by making simple changes in your life. Pinpoint ideas you “will” implement. Subsequently, increase the gramarye of changing old habits to launch a new and healthier behavior, which becomes an essential, but normal function of everyday life. Successful change translates into repeated action regularly that requires no continual deep concentration. At this apex operating level, human behavior has become routine. As a result, evolution is complete! The process entails getting rid of unwanted desires by keeping at bay temptations—intentionally to permit permanent replacement and receive stimulation from new rituals.

The truth is “change” is not easy! Creating new good habits and breaking old bad habits requires an action plan—whether fine tuning or transformational. The former considers re-examining prior self-challenges to help become more mindful of strength gains in prominent areas—self-concept and self-esteem. This reflection means tweaking behaviors, which solidifies you are on the right path. The latter involves fundamental, large-scale change that yields new channels of perceiving, thinking, relating and behaving—Personally, Professionally, as well as Academically.

In a practical sense, incremental steps allows for better digestion to experience maintaining degrees of change. Nevertheless, adjustments have to take place (internally mentally/externally physical action) that will inevitably affect prevailing structures and systems. Consequently, it is urgent to identify beneficial applications before adherence develops and change last. Raising attention, says, to self and others, “I- we must do something” about an issue to ultimately combat complacency, fear, and anger that prevent change from starting (Kotter & Cohen, 2002).

The Science of How to Form Habits (BJ Fogg, 2014):

PRECEPTS

a. Simplicity Matters More Than Motivation

b. Emotions Create Habits

c. Change Behavior Without Relying on Willpower

d. Pick New Behaviors; “want” to enact –vs– things “should” do

e. Success Makes Tiny Habits Grow Into Bigger Habits - Other Areas of Change

f. Share ‘Tiny Habits Method’ With Others

4-STEPS TO CHANGE HABITS

1) Make New Behavior You Want Really ‘small’ = “tiny

2) Determine Where New “tiny” Behavior Fits Into Your Life

3) Put New Behavior “AFTER” An Existing Routine

4) Celebrate Performing ‘New Behavior’ Immediately

EXAMPLE: Goal = Exercise Regularly

After I eat dinner (prompt), I will set out my gym clothes (easy new behavior). The anchor moment immediately triggers you to do the new Tiny Behavior –followed by instant (way to feel good) celebratory statement, I Got This!

CHANGE AXIOMS & MINDSETS

William of Occam: Look at the simplest explanation before analyzing the complex

Structural Model: If it fails, it was non-rational

“Butterfly Effect”: Changes on a small scale can influence things on a larger scale

Change: Conflict, Winners/Losers & more Psychological than Logical

In conclusion, the most important phase of creating change is preparation. The second change factor is implementation. And third, evaluate change outcome. Performing new habits doesn’t have to be difficult. Cycles of old habits can be broken and become a nemesis of your past. Build self-confidence by utilizing 4# steps outlined in "Tiny Habits Method". Finally, there is a tool that realistically demonstrates how to replace 'unwanted' behaviors with 'good' behaviors. Remember, life depends on continuity. For this reason, at any given time, individuals experience a state of disequilibrium. However, understanding how to self-assess enables self-success!

Now, let’s get started…What habit do you want to change?


Written by Dr. Cecilia A. Brantley | Argosy University, Chicago Professor | BodyParts Fitness Co-Founder/1992

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