Home-Assisted Ventilation for Multifocal Motor Neuropathy | Kim's Story

Kenneth "Kim" Day retired early as the owner of a large consumer products manufacturing company to do more of what he loved with his wife and two children.

He lived in Eastern Pennsylvania part of the year, with a second home in Telluride, Colorado. The family loved to hike, ski, golf and enjoy the fresh mountain air more than 10,000 feet above sea level. "I had two terrific lungs, so those outdoor activities high in the mountains were no problem," said Kim.

In 2008, when Kim was in his late 50s, he was hospitalized with severe pneumonia. He recovered fully, but he was in the hospital with the same condition again the following year. This time the infection extended into in his pleural cavity, a condition called empyema. The pleural space is an area between the lungs and the chest wall. Infections in this space cause a buildup of mucus and pus that can't be coughed out. Doctors drain it with a needle during an invasive surgical procedure.

"It was very hard to breathe and very painful," said Kim. Doctors successfully performed thoracic surgery to remove the liquid. Kim went home three weeks later. "I remember thinking, 'Well, that was terrible, but I'll be fine,'" he said.

But Kim never did recover completely. He was short of breath all the time and felt like something was really wrong. He couldn't go to Telluride because going more than 3,000 feet above sea level made it impossible to breathe. He also had to give up outdoor activities like hiking and golfing.

Diagnosing MMN, a Rare Autoimmune Disorder

Kim got a referral to Penn Medicine pulmonologist John Hansen-Flaschen, MD. Initial testing revealed that Kim's right diaphragm was paralyzed. Months later, his left diaphragm and back-up breathing muscles became weak as well. He had to sleep in a sitting position just to be able to breathe at night.

The diaphragm is a large muscle that expands and contracts with each breath. When we inhale, it opens the chest cavity to make room for air in the lungs. Then it relaxes to push air out of the lungs when we exhale. Some other muscles around the diaphragm (called "accessory" muscles) can help with breathing. But they cannot take over for a paralyzed diaphragm, so even light exertion can become a significant challenge.

Diaphragm paralysis causes a feeling of breathlessness, especially during sleep. Dr. Hansen-Flaschen wasn't sure what was causing Kim's diaphragm paralysis. So he referred Kim to Thomas Brannagan, MD, a well-known neurologist at Columbia University who treats unusual neuromuscular diseases.

Dr. Brannagan diagnosed Kim with multifocal motor neuropathy (MMN), a rare autoimmune disease that affects nerves. MMN typically damages the nerves that control arm and leg movements, leading to partial or complete paralysis in these limbs. For Kim, the disease was attacking his phrenic nerve, which controls the diaphragm.

"My diagnosis was a rare version of an already rare autoimmune disorder," said Kim. "But I would rather have the breathing challenges than have paralysis in my arms or legs because I can use a ventilator to help with the breathing."

Slowing the Disease and Finding Breathing Treatment Options

There is no cure for MMN. Kim receives outpatient intravenous immune globulin (IVIG) infusions every two weeks to slow additional nerve damage.

Unfortunately, IVIG cannot repair existing nerve damage, so there is no way to restore Kim's breathing to normal. Fortunately, Dr. Hansen-Flaschen and the Fishman Home Assisted Ventilation team helped him get all the equipment necessary to improve his breathing at home.

Kim doesn't need extensive breathing equipment during a normal day. He has almost no limitations on his activity, as long as he can comfortably breathe. His team at the Fishman Program provided him with several options to monitor his oxygen levels and help with breathing:

• Positive airway pressure machine: Kim wears a face mask and uses a noninvasive ventilator to sleep comfortably at night. He can also use it if he feels out of breath during the day. Advanced settings automatically adjust the positive pressure from the machine to maintain normal breathing throughout the night.
• Cough assist machine: This device fills the lungs with air, then draws the air forcefully out to boost Kim's ability to cough and clear mucus from his lungs.
• Pulse oximeter: This small device measures Kim's oxygen levels and alerts him if they drop too low.

Overcoming a Challenging COVID Year

For Kim, any respiratory illness could be devastating. Even before COVID-19, he knew exactly what steps to take. "The Penn Medicine team gave me a specific protocol to follow if I think I have an infection. I can test my oxygen levels and breathing capacity, and if they are low, I immediately call them to get antibiotics and steroids," he said.

When COVID-19 hit, the stakes got much higher. "Before there was a vaccine available, COVID was potentially a death sentence for me. I had to stay locked down for a full year while my wife shouldered the entire load of acquiring whatever we needed from outside our four walls."

Because the risk was so high, Kim couldn't go into the Home Assisted Ventilation clinic for regular visits with his pulmonology team. Fortunately, the team had telemedicine, a home spirometry testing device and remote patient monitoring available. His breathing devices sent information directly to Penn Medicine. If the team saw anything that was cause for concern, they reached out to Kim right away. "It's so easy and so wonderful," said Kim.

"Not Your Typical Doctors"

When Kim first came to Penn Medicine with shortness of breath, he expected to see a typical doctor. "I was scared, but then I met this magical guy, Dr. John Hansen-Flaschen, who is anything but a typical doctor," said Kim. "He takes as much time as I need to get my questions answered and performs very thorough exams. The other doctors in the [Fishman] Program are the same. They are all very sensitive to patients' needs, accessible and willing to answer questions."

Kim also appreciates being at Penn Medicine with multiple specialists and experts. His team consults regularly with sleep medicine, cardiology and others to get answers. That collaboration provides peace of mind. Kim recalls a time when a routine scan revealed a spot that looked like lung cancer. "They brought in three other people, including technicians and a thoracic surgeon, to look at it. I left that day knowing I didn't have lung cancer," he recalls. "Everyone at the Fishman Program for Home Assisted Ventilation is passionate about the people they treat."