McMillan family preparing for difficult journey ahead Posted on January 23, 2023 0 All in this together (From left) Tyler, Shauna, Lonnie and Caleb McMillan pose for a photo at a wedding this past October. Caleb (front, right) was recently diagnosed with cerebral x-linked adrenoleukodystraphy, a genetic mutation of the X-gene that causes a breakdown of the protective barrier of the nerves for the brain. The family is preparing for a Caleb to undergo a recently-approved gene therapy treatment, which could save his life. By BRIAN HEMMINGER City editor An Upper Sandusky family is bracing for the biggest battle of its life. Daily Chief-Union sports editor Lonnie McMillan and Tiffin University professor Shauna McMillan are the parents of two boys, Tyler, 9 and Caleb 7. Since 2016, the McMillans have been aware that their children have a rare genetic condition called x-linked adrenoleukodystrophy, or ALD for short. “(ALD) comes through a genetic mutation of the X-gene,” Shauna McMillan said. “A gene does not produce an enzyme that breaks down very long chain fatty acids. For a certain percentage of people with the ALD diagnosis, a cerebral form develops, which is a breakdown of the protective barrier of the nerves for the brain.” Cerebral x-linked adrenoleukodystrophy, or CALD, is specific to children within the critical ages of 4 to 10 years old. CALD is physically crippling and eventually leads to death if not treated. The McMillans were aware their children may have ALD ever since a cousin, Evan, was diagnosed with CALD. Unfortunately, Evan was already symptomatic and his disease had progressed to the point that treatment was not an option. He died in 2016, 11 months after being diagnosed at 9 years old. Caleb McMillan “At the time we found Evan’s diagnosis, we raced to our doctors and said, ‘We need to be tested,'” Shauna McMillan said. “We knew it was coming from my side of the family with the way it was passed. We did a long chain fatty acid test and it came back positive on both (Tyler and Caleb).” Because of the early ALD diagnosis, both Tyler and Caleb have had a different path than their cousin. “We have a team of specialists that we’ve worked with since diagnosis when Tyler was 2 1/2 and Caleb was 8 months old,” Shauna McMillan said. “We have a neurologist, an endocrinologist, a geneticist, a dietician. It’s a big team with a lot of support.” Since 18 months of age for Caleb and 2 1/2 years old for Tyler, they’ve been doing MRIs of the brain, with and without contrast, every six months to look for any signs of cerebral development. Everything was in the clear until the Dec. 30, 2022, MRI. “We got the report back on Jan. 3 that said there was something they weren’t quite sure about, but we knew it wasn’t any language we were used to hearing based on the previous MRIs,” Shauna McMillan said. “We had a follow-up appointment the next day with our neurologist and he was able to confirm CALD.” As soon as they had the diagnosis, the McMillans said their teams went into action right away. They were connected with several hospitals in Boston. “There’s a specialist there, Dr. Florian Eichler, who was conducting gene therapy trials, which were just approved in September 2022,” Shauna McMillan said. “It was perfect timing. They just started treating the first child in Boston on a non-trial basis. Caleb could be the second.” The McMillans said the results of the gene therapy trial were a 90% success rate. “We were looking into gene therapy for Caleb because there is only one other form of treatment, a bone marrow transplant,” Shauna McMillan said. “In 2018, at the advice of our geneticist, we did HLA typing to see if there was a match of donors in the bone marrow donor base. Tyler had over 200 matches and Caleb had zero. They said there is something in our ethnicity that is on the rare side.” Lonnie McMillan said a few years ago, the only option would have been to just go ahead with a less than perfect match of a bone marrow transplant anyway and just pray the treatment wasn’t fatal. “There’s so many risks with how low of a match Caleb is,” Lonnie McMillan said. “The probability of death was high. I was only a 5 out of 10 match and that was our closest match. A transplant can be attempted at 8 out of 10, but the complications and risk of rejection are high even then.” The family has had a game plan put in place over the last few years that if CALD develops, Tyler will have a bone marrow transplant and Caleb will have gene therapy. The way gene therapy works is instead of having an outside donor, doctors will harvest the cells directly from Caleb’s body, correct them in a lab, then reintroduce them into his body. Steps in the process include getting tested to make sure he’s physically ready for the treatment and working with insurance. Some conditions have to be met as far as progression of CALD for the therapy to be most effective. “He’s so early on that some of those things haven’t happened yet,” Shauna McMillan said. “So it’s gonna be close monitoring until we see the next signs of CALD development and then we’ll move on it. When we start treatment, we’ll go to Boston for about a week for them to do a harvest of Caleb’s cells.” Best of friends Caleb McMillan (left) and Tyler McMillan pose for a photo at one of their first doctor’s visits at Nationwide Children’s Hospital. They were diagnosed with x-linked adrenoleukodystraphy when Caleb was 8 months old and Tyler was 2 1/2 years old. After that, the family will come home while the doctors and scientists are preparing the gene therapy in a lab. Once the treatment is ready, the family will return to Boston for a longer stay. “It could be up to 90 days depending on how well Caleb’s doing,” Shauna McMillan said. “During that second stay, Celeb will undergo chemotherapy to neutralize and kill off all of his affected genes. After the chemotherapy is over, they’ll use the gene therapy to reintroduce his corrected genes through a virus back into his body and that should spread and replace the malfunctioning gene.” From there it will be a waiting period for the gene to graft and for Caleb to be recovered enough from the treatment to be able to come home. Once home, there will be an isolation period where Caleb needs to have minimal contact while his immune system builds back up, and then he’ll have to be monitored for the next 15 years at minimum just to make sure everything is progressing the way the doctors and specialists expect. They also will want to keep an eye out for some high-risk side affects. It’s possible that gene therapy will be a complete cure. But in the meantime, the family is waiting for the disease to progress to the point that it is more easily-treatable. Caleb will have another MRI in late March to see how the CALD is progressing “We could go to Boston after this next scan in March or we could have to wait another couple months,” Lonnie McMillan said. “It’s very much a ‘hurry up and wait’ situation. It’s difficult to not know when you might be going, how long you might be there. In most cases, there’s a need to move immediately because the disease if further along, but in our case, we detected it early. It makes us nervous to wait because we don’t know exactly what’s happening inside Caleb’s brain, but they’ve assured us that we’ll never see anything like outward symptoms and it won’t affect him in any noticeable way, physically or cognitively, while we wait.” The McMillans said doctors have told them to keep things as normal for Caleb as possible. “He’s still playing basketball, he’s still in school at East Elementary every day. He’s still in Cub Scouts,” Shauna McMillan said. “He’s been signed up for soccer. We’re just trying to maintain as much normalcy as we can. We are just trying to be in the moment and enjoy our time with our kids.” Caleb loves video games, especially Pokemon. “He likes to watch Pokemon even while he’s playing Pokemon,” Shauna McMillan said. “He loves playing sports. He’s a Racing Ram on the running club. He even beat his older brother Tyler the last time he ran and said he loves running, even more than soccer and baseball.” After struggling in baseball this past year, not getting on base all regular season long, Caleb went 4-for-6 with three runs scored and his team won the championship game on his seventh birthday. He hoped to celebrate with a trip to Taco Bell or McDonald’s, which he can eat in moderation as long as he’s careful with his diet choices earlier in the day. The diagnosis has been hard on Tyler as well. “He’s afraid for his brother and also is nervous about what happens when the rest of his family goes to Boston for treatment,” Lonnie McMillan said. “Tyler and Caleb are so close, they’re best friends. It’s been a difficult couple of weeks.” Moving forward, the family is bracing for other issues it will face in Caleb’s treatment, particularly on the financial side. “The gene therapy that’s been developed for CALD is $3 million,” Lonnie McMillan said. According to the McMillans, it’s the most expensive single treatment for any disorder or disease in the world. “You obviously can’t put a cost on Caleb’s life,” Shauna McMillan said. “You just have to pray that it’s gonna work out, insurance will come into play, other factors will help us tackle that. You just hear that number and it’s staggering to think about.” Both Tyler and Caleb also receive treatment in the way of Lorenzo’s oil, which, combined with a low fat and saturated fat diet, substitutes fats that their bodies are capable of breaking down. Due to its origin in the Netherlands and the UK, Lorenzo’s oil costs $200 a bottle plus import fees. As the boys have grown older, they go through a bottle of Lorenzo’s oil every 2-3 days. The McMillans import a large shipment of Lorenzo’s oil four times a year. “We thought if there was any chance of avoiding the cerebral form as they grew up, it was worth it,” Shauna McMillan said. In the meantime, the family is preparing for a loss of income. Shauna McMillan informed Tiffin University that she may not be available for extended periods of work she was reduced from four in-person classes to one online-only class. The family also won’t be able to work while Caleb is being treated in Boston. To help with expenses, a nonprofit bank account has been set up with Huntington Bank called the “McMillan Family Support Fund.” A GoFundMe also was set up by Shauna McMillan’s family to aid with travel and treatment expenses. Titled “Operation Save Caleb,” it has raised over $16,000 as of press time. It can be reached at www.gofundme.com/f/operation-save-caleb. Others have made direct donations, and “#SaveCaleb” shirts are on sale at Kimmel Apparel. They will be worn during the Upper Sandusky vs. Carey basketball games to show support. “The response that we’ve had locally has been overwhelming,” Shauna McMillan said. “The GoFundMe was set up and it just took off. The community has been incredible with support, kind words of encouragement. Our network is so much bigger than we even fathomed, between all our local family and friends, it’s humbling. Words can’t even express how grateful we are for it.” The family asks for all the prayers it can get. And even if it’s too late to help Caleb, the family also asks people to volunteer to become a bone marrow donor. They can sign up for free at BeTheMatch.org and a test kit will arrive in the mail. “Even if you can’t help Caleb, you could help someone else who may be in need of a bone marrow transplant,” Shauna McMillan said.