Coal City siblings battling extremely rare disorder, family needs help for van

The doctor of two severely ill Coal City siblings called their family “heroes” and “salt of the earth” for the way they care for their own.

Dr. Mary E. Keen, who works in pediatric physical medicine and rehabilitation at Northwestern Medicine Marionjoy Rehabilitation Hospital in Wheaton, cares for siblings Anthony Pens, 26, and Alyssa Pens, 14. Both have heredity spastic paraplegia type 35 and require round-the-clock health care.

Their disease is so rare that only 51 people in only 19 families are documented in medical literature, Keen said.

“They’re a wonderful demonstration of family love,” Keen said. “They are incredible. This is a family that’s salt of the earth. They accepted their challenge in life with grace and dignity. And they are role models for all of us.”

Gina Pens, 24, the sister of Anthony and Alyssa who serves as Alyssa’s primary caretaker, turned to GoFundMe to help with medical bills.

Gina Pens raised less than $4,300 of the $20,000 she requested, and the fundraiser has since stalled.

Now the family desperately needs an accessible van.

Keen said she’s cared for Anthony since he was 5 years old and Alyssa since she was 2 or 3. Keen said that when she first met Anthony, he already was profoundly different than the boy described in his chart.

“Over time he continued to change, and in a way that made me really sad he was getting worse instead of better in spite of therapy,” Keen said, adding that Alyssa’s disease is progressing at a faster rate than Anthony’s is and is more challenging to treat.

Both Anthony and Alyssa have gastrostomy tubes. Anthony also has a tracheostomy as well as ileostomy, Keen said.

“His current situation is probably, in part, due to how rare his disorder is and how little anybody understands it,” Keen said.

Keen said every time Anthony went to a specialized nursing home that accepted patients on ventilators, he’d still end up in the hospital every two to three weeks.

“He’s very medically complicated,” Keen said. “But his mom is doing such a wonderful job. He’s not had to go into the hospital once since his mom began caring for him at home. To me, that is evidence of what a good job she is doing by herself.”

Gina Pens said she has two other siblings who don’t have the rare disease. It was not immediately apparent in Anthony and Alyssa, she said.

Doctors simply considered their development a little “slow.” Over time, they simply lost their abilities, she said.

“As of right now, there is no cure,” Gina Pens said, adding that “they have a disease they have to live with forever, and nobody knows life expectancy, nor do we want to know.”

Danny Pens, Gina, Anthony and Alyssa’s father, praised Gina’s dedication to her siblings, considering that she has her own autoimmune and cardiac issues.

He praised Keen’s dedication to his children and her help in keeping Anthony on his insurance after his son turned 26.

“As of right now, there is no cure. They have a disease they have to live with forever, and nobody knows life expectancy, nor do we want to know.”

—   Gina Pens, sibling of Anthony and Alyssa

“She’s a really good lady,” Danny Pens said. “She’s saved his life so many times.

Communication challenges

Neither Anthony nor Alyssa can talk or walk, Keen said. Anthony has not walked in 14 years, and Alyssa has not walked in almost a decade, Keen said.

Anthony could talk when he was younger, “but it’s been a long time,” Keen said.

Alyssa could talk and use an augmented communication device until two years ago, Keen said. Alyssa can communicate by pointing and nodding or shaking her head for yes or no, Keen said.

“But Anthony can’t do that anymore,” Keen said.

Instead, they communicate with facial expressions, Keen said. And they cry if they are sad or in pain, Keen said.

Because both Anthony and Alyssa have impaired vision, they also cannot use eye-gaze devices.

But Keen said that because “every person has dignity” and “every patient deserves to be listened to,” it’s important for providers to do their best to discern what they are communicating and find ways to give them more communication abilities.

“But they can both still understand,” Keen said. “They both have indelible smiles that show their appreciation. They show that they know love and show that when people are talking with them and caring about them. … Again, I want to emphasize that they are loved, and they are happy. Both of these children are happy because they know they are loved. You can tell when you see them smile.”

Nevertheless, Danny Pens said he sometimes cries at the unfairness of it all.

“It’s just terrible,” he said. “I love them so much. I’d give my life for them, but I’ll take them as they are. It’s just that nobody understands this disease much. I’m hoping for a cure for it. I pray to God he cures it. It’s really hard on us. And you worry about the other kids.”

They’re a wonderful demonstration of family love. They are incredible. This is a family that’s salt of the earth. They accepted their challenge in life with grace and dignity. And they are role models for all of us.”

—  Dr. Mary Keen, who cares for Anthony and Alyssa Pens of Coal City

Searching for answers and help

Keen said she worked with the family to get a diagnosis because “not knowing what was wrong made it hard to fix.”

The answer finally came through the Undiagnosed Disease Network about six years ago, Keen said.

Up until that point, the family had gone to various medical centers across the U.S. seeking answers, Keen said.

Not every family would do that, she said.

“It’s hard enough when you are caring for two children with disabilities without traveling across the country in order to figure out what it is,” Keen said. “So I give the family a lot of credit to that.”

As a rehabilitation doctor, Keen said her focus is on improving the quality of life for her patients and finding opportunities for happiness and joy.

Keen said Anthony still was able to stand and participate in transfers when he was 12 or 14, which Alyssa never could do. Alyssa had a hip subluxation, while Anthony never had a dislocated hip, Keen said.

Both take medicine for epilepsy, medicine to improve their muscle tone (stiffness can cause pain and make caring for them difficult) and medicine to help with waste elimination, Keen said.

She sees Anthony and Alyssa twice a year and communicates with the family several times a week since their disease is “pretty advanced,” Keen said.

Keen said she examines the in-person visits and regularly reviews their care plans and medication schedule to see what can be simplified so they don’t need medication every hour. She discusses any challenges they have and if the family has the proper equipment, Keen said.

She called Anthony “a miracle man” because he almost died several times in the past three years. At one point, Anthony was in six different hospitals in six months, Keen said.

“But he’s done really, really well since he’s been home with his mom caring for him,” Keen said. “He requires 24-hour care. And she can’t really leave his bedside. It’s awe-inspiring, her love for her son and her whole family and her commitment to her children.”

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