Courage

Lily and Levi Wahl sit on the couch in their home in Dutton. Levi, who was born with a disease that went undiagnosed for five years, was diagnosed with Hereditary Benign Intraepithelial Dyskeratosis in 2011.

A medical mystery case that the Acantha reported on a decade ago now has a diagnosis, though a treatment plan is still unsure.

Lily Wahl of Dutton had previously given birth to six healthy babies with her husband, Steve, when their seventh child, Levi, was born on Aug. 26, 2006, in Conrad after yet another uncomplicated pregnancy. Despite this, Levi arrived with what looked like infected eyes and dangerously low oxygen and high calcium levels. He was immediately sent to the neonatal intensive care unit at Benefis in Great Falls and was only sent home after three days, when his oxygen levels stabilized.

He also had white patches inside his mouth, but doctors figured that was thrush, a fungal infection common in babies that usually goes away on its own in a few days.

Levi was home for less than two weeks before he was hospitalized again, this time because he wasn’t nursing well and was losing weight, and the white patches were spreading into his esophagus. He eventually had a feeding tube attached to his abdomen to allow him to receive proper nourishment.

That wasn’t the last of Levi’s health issues. At 6 months old, his corneas became cloudy with scarring and his vision was deteriorating. When he was a year old, doctors realized he also had significant hearing loss. At 2 years old and only 18 pounds, he still wasn’t gaining enough weight, and doctors found he was low on a certain human growth hormone, so he began a series of hormone injections for two years.

Through all this, no one could give the Wahl family a diagnosis. They took Levi to specialists in Portland, Oregon; Seattle, Washington; Los Angeles, California and the Mayo Clinic in Rochester, Minnesota. He had biopsies, blood tests and in-depth eye exams under sedation — all showed normal results.

“It became almost an obsession for me. I kept thinking to myself, if I could find a name for it, then it all would be better. I’d search the internet for hours looking for answers,” said Lily. “I’d feel guilty because I was so preoccupied with just one of my kids, but then I’d feel guilty about not looking — if there was a way to help him, and I wasn’t looking for it.”

Eventually, they did find an answer. Through an e-support group and nonprofit website called “SWAN: Syndromes Without a Name,” Lily learned that the National Institutes of Health was starting a new undiagnosed diseases program, and accepting only 100 applicants. She sent the information to his doctors at Shodair, they applied and to everyone’s surprise, Levi was accepted.

On Jan. 25, 2009, Lily, Levi and three of his siblings — Julia, Emily and Eric — all flew to the NIH facilities in Bethesda, Maryland, to complete a week of more tests and specialist visits in the hopes that this time they’d find an answer. Levi was seen by a corneal specialist and several geneticists, and the family’s entire genome was sequenced. Emily and Eric, who were both born with cataracts, were also examined to see if there was any connection to Levi’s condition. Levi finally received a diagnosis from NIH two years later: Hereditary Benign Intraepithelial Dyskeratosis (HBID).

HBID is a rare genetic disorder that predominantly affects people descending from the Haliwa-Saponi Native American tribe in North Carolina. The earliest research done on the disease was in 1959, when two doctors examined 300 members of the tribe and found 74 of them to have symptoms consistent with HBID. Levi is only the fifth non-Native American person in history to have a confirmed case of HBID.

Levi’s case is also a landmark discovery because it shows HBID can be de novo, or not inherited from a parent’s genetic makeup. Although “hereditary” is in the name of the disease, Levi did not inherit it from either of his parents. At a very early point while Levi was being formed in the womb, a section of his 4q35 chromosome (a non-sex chromosome) was duplicated, so he has one normal gene and one mutated gene copy. If he has children in the future, he may or may not have a chance of passing on the trait. Levi’s area of duplication is also in a slightly different, but overlapping spot compared to the area of duplication in Haliwa-Saponi people — this raises further questions for physicians diagnosing and classifying HBID.

The disease affects the mucous membranes in one’s mouth, cornea and conjunctiva (the clear, thin membranes covering the front surface of the eye and the inner surface of the eyelid). An affected person may show either oral or ocular manifestations, or both. Ocular symptoms include redness in both eyes, greyish corneal plaques that are often exacerbated if removed and the in-growth of new blood vessels into the cornea due to oxygen deprivation to the eye (neovascularization). The white, spongy plaques are the main oral symptom.

Levi’s diagnosis still doesn’t explain his hearing loss or his lack of a certain growth hormone. Doctors also can’t explain why he had low oxygen and high calcium levels at birth: two things that he’s never experienced since.

All HBID symptoms typically follow a waxing/waning pattern, increasing and decreasing in severity throughout a person’s life. Now 12 years old, Levi is still small for his age, but at an acceptable weight. He was able to go off both the hormone injections and the feeding tube when he was about 5 years old, but still must have all his food blended to complete smoothness.

“All we can really do is treat him symptomatically, and that’s the main thing I would like to work on. If he could eat real food one day, that would be great,” said Lily.

“It doesn’t hurt to eat. I just take a while,” said Levi.

Levi also hasn’t had as many white plaques in his mouth, but his dentist said his mouth still has an unusual, spongy texture to it. Last month, Levi had an endoscopy to see if there were any other reasons why he had trouble eating. The procedure found yeast growth in his esophagus, and he’s currently taking medication for that, but that doesn’t seem to the main cause.

“The biggest frustration has been the continuity of care. He has an ophthalmologist and ear doctor in Missoula and a G.I. (gastrointestinal) doctor in Kalispell. And it seemed every time we found a pediatric dentist in Great Falls, they’d move, so now we go to one in Helena,” said Lily.

The amount of leave Lily must take off from her job at Power Public Schools to take Levi to medical appointments varies by year. This year, she’s taken approximately 10 days off.

“I recently took off when I didn’t even have a sub to take him to the G.I. doctor in Kalispell. We drove down the night before, and the doctor cancelled on the day of the appointment. Those things get really hard,” she said.

The family is also planning another trip to Los Angeles this summer to re-visit with Anthony Aldave, an ophthalmic geneticist who saw Levi years ago and published a medical journal article on his case in 2016.

When Levi was 5, he went to Portland to have a corneal transplant in his left eye. A few months later, the new cornea had already scarred over and had grown worse than the other eye, so doctors decided to wait until Levi was older to try any other procedures. Now that Levi is going on 13 years old, Aldave will re-examine him to see if he is a good candidate for keritoprosthesis, a procedure in which an artificial cornea combined with natural human donor material replaces one’s cornea. Keritoprosthesis has a slightly higher risk to it, so it’s often advised only after a person has had one or two failed natural transplant attempts. Additionally, if Levi and his family do decide to go ahead with the procedure, they’ll still have to find a way to access post-operative care from rural Montana.

With Levi being the youngest of seven children, Lily said he has changed their family dynamic immensely, but in a good way.

“All the kids were still at home when Levi was born, and I used to homeschool all of them. It eventually got to be too much, so we put them in public school, but I could see how all my kids grew more compassionate and empathetic when Levi came to us,” she said. “My oldest, Julia, went on a mission trip to a Guatemala orphanage, and the team leader said while all the other kids didn’t know what to do, she went to the orphans right away and picked them up. She’s a nurse now, so she cares for people for a living.”

Levi has grown into his own person, too. When the Acantha last reported on Levi, in 2009, he was just beginning to learn sign language and was mostly non-verbal. His eyes were so sensitive to light that he would ask to be held and rocked for nearly an hour before he had the strength to open his eyes each morning.

Levi now uses hearing aids, and can communicate verbally and through sign language (which has to be pretty close to his face for him to see) and braille — two skills he is learning at the Montana School for the Deaf and Blind (MSDB) in Great Falls. Also, he can now open his eyes to the light with relative ease, and for what he lacks in eyesight, he makes up in a creative use of tools.

“He loves cars. He probably has hundreds of Matchbox cars. When we’re driving around, he’ll take photos of cars we pass on his iPad, so he can zoom in and see them better,” said Lily.

Levi enrolled as a full-time student at MSDB last year. Most MSDB students stay for one week a month, and then go back and practice what they learned with a special education teacher at a public school in the district they live in, but Lily felt Dutton/Brady Schools didn’t have or weren’t allocating enough time or money to properly work with him.

“Our community has always been so supportive, but I felt hurt sometimes because the school didn’t seem to want to help him. They would use the same FM system that MSDB has, where the teachers had microphones linked to his hearing aids, and they pay for a driver to take him to MSDB now, but that was all they really wanted to do. They have a new superintendent now, so it could be different now. Either way, he’s soared at MSDB, so I think that’s the best place for him now,” said Lily.

Even at MSDB, Levi is still a unique student for the teachers there; most are accustomed to working with students who have either vision or hearing loss, not both. One of the most innovative classes he takes there is called “orientation and mobility.” In that class a teacher will go out with him and teach him how to perform basic life skills on his own, such as buying groceries, mailing a letter at the post office and using public transportation.

Levi says he enjoys school at MSDB. One of his goals for next year is to be more involved in extracurricular activities, and perhaps find a club that interests him. He also has career goals after school.

“I’m going to work in a pet shop,” he said as he held his black cat in his lap. “I love animals: cats, dogs … even chickens.”