Michigan Boy With Similar Mitochondrial Disease as Charlie Gard Fights for Survival

Michigan Boy With Similar Mitochondrial Disease as Charlie Gard Fights for Survival

British infant Charlie Gard died July 28 from mitochondrial disease just a week before his first birthday, but his parents’ failed efforts to bring their baby to the United States for treatment focused worldwide attention on the rare disorder.

Now a 5-month-old boy in Kalamazoo, Michigan, has a similar incurable condition. And his parents say their son’s only hope is experimental therapy treatment that may or may not slow down the progression of the disease.

Russell Cruzan III, affectionately known as Bubby, has mitochondrial DNA depletion syndrome 13, which causes progressive muscle weakness and eventual brain damage.

Doctors have told Bubby’s mother, Michelle Budnik-Nap, that half of the children with the condition don’t live to celebrate their second birthday.

“Ultimately, it affects the major organs, because the major organs require the most energy,” she told WWMT-TV, Michigan’s Newschannel 3. “So right now, he’s dealing with some kidney problems, some liver problems, heart problems, definitely some muscle problems, although we’re definitely working on getting that fixed.”

In the meantime, she and Bubby’s father, Russell Cruzan, have started a crowdfunding page to help them cope with the expenses of caring for their sick child. As of Aug. 16, it has generated more than $57,000 in donations and has been shared 2,700 times on Facebook.

“We were told there was no treatment and to take our son home to enjoy the time we have with him,” Cruzan wrote to donors. “We have since learned that there is experimental treatment out there that has shown great success in others with similar conditions. We have worked tirelessly to gain the attention of the doctors administering these treatments, and we are now scheduling appointments with two of them.”

Dr. Micho Hirano, a neurology professor at New York’s Columbia University, was the expert Charlie Gard’s parents consulted. He had encephalomyopathic mitochondrial DNA depletion syndrome, or MDDS, the most quickly progressing form of mitochondrial disease.

Ultimately, British courts and the London hospital where Charlie was being cared for refused to let his parents bring him to the United States for treatment.

Hirano has agreed to meet with Bubby’s parents and to determine if experimental nucleoside therapy could benefit the child, whose MDDS 13 is causing a rapid, harmful buildup of lactic acid and ammonia in his body. Experts say Bubby is one of only 88 babies in the world with this mutation.

The case has also attracted the attention of conservative radio talk-show host Glenn Beck, who on Aug. 10 urged his listeners to help fund Bubby’s treatment. On his website, Beck explained the family’s situation under the headline: “DONATE: #Bubby is America’s Charlie Gard. Help Him Get the Treatment Charlie Didn’t.”

Meanwhile, the Pittsburgh-based United Mitochondrial Disease Foundation said both cases have helped bring global visibility to mitochondrial disease, which is relatively unknown among the general public.

“Like Charlie, Bubby’s genetic mutation of mitochondrial deletion may be rare, but mitochondrial disease is not,” said foundation President and CEO Charles A. Mohan Jr. “Approximately one in 2,500 to 5,000, adults, teens and children are affected, making mitochondrial disease more common than childhood cancers.”

Mohan told Mitochondria Disease News in an email that “unlike Charlie, Bubby’s parents were able to immediately meet with Dr. Hirano and be included together with the medical team collaborating on the best course of treatment. Treatments did not come quickly enough to help Charlie, but his short life helped to sharpen the focus for Bubby and the many other adults and children across the globe who battle daily with mitochondrial disease.”

2 comments

  1. Ruth Robinson says:

    At the time that my granddaughter was diagnosed with mitochondrial DNA depletion syndrome 13(aka FBXL4), we were told similar expectations. We didn’t sensationalize the situation, we didn’t call in media, we have been handling the diagnosis as respectfully and financially as possible. This is the same type of disease but not the same exact disease that Charlie Gard had. Nor is it the same situation, with insurance companies and medicaid covering costs and expenses. The fact that we as citizens of USA have great hospitals, have insurance that has been generously helpful (and from listening to this family on the radio programs I understand that they do as well), that our subsidy from medicaid assists and is supplying nurses and home care as well, makes me wonder why the hype- other than for the devastation that comes with a very unfortunate, life changing diagnosis. We are not in England. Sadly, many children die in America at a young age due Mito diseases and other diseases like cancer. All of these children and families deserve hope and a cure. Our family fundraises for Dr. Falk’s lab at CHOP who studies Mitochondrial DNA depletion syndrome 13/FBXL4 and have raised only $10,000 to go directly to the lab so that research can be done to help children and families facing this diagnosis. Our granddaughter has had surgeries, her blood and tissue have been harvested to do research. Why would we do this? To help other people when they find out this diagnosis and maybe we can help find a cure. At the time, there is no treatment or cure for Mitochondrial DNA depletion syndrome 13/FBXL4. With people sensationalizing as this family has done, less people will be willing to donate when they see that, yes, there are families in the US that have children that have lived beyond two years now…and a mito warrior as old as 12! Our granddaughter is 18 months now. We have had many fun days with her and have shed many tears. Many families have suffered as we few that have children with FBXL4 have. We make the most of the time that we have and offer to our child the opportunity to live life to the fullest (on her terms with lack of muscle). We have opportunity to help others find a cure ~ maybe that should be the focus rather than the doom, gloom, devastation and what we are missing out on because of this disease. My heart goes out to Bubby and his family. I hate to think that their family is going through what we are experiencing. Prayers for them and ALL of these mito warriors and their families.

  2. Isabella mackay says:

    Praying Dr Hirano can save Bubby,my little nephew Charlie didn’t get his chance at life the British Dr’s and courts said he had to die. We will keep fighting to get Charlie justice..

Leave a Comment

Your email address will not be published. Required fields are marked *