Parents forced to make difficult decisions to help baby with Krabbe disease.
By WILLIAM SMITH
Abbey and Robert Branch had to make a horribly difficult decision late last year - the kind of decision no parent wants to make.
Their 9-month-old son, William Branch, was diagnosed with a rare genetic disorder called Krabbe disease, which only occurs in about one in 100,000 births.
They knew a transplant of umbilical cord blood would prolong William's life, but the transplant itself carried a 10 percent mortality rate. Without it, his life expectancy would be about 7 years or less.
"We had two unfathomable options," Abbey Branch said. "We would have to let his body deteriorate slowly and painfully with death from respiratory failure between the ages of 18 months to 7 years, or subject him to a harsh chemotherapy regimen with the goal of saving his cognitive ability, sight and hearing, with a life expectancy of 18-plus years. The earliest transplant candidate is currently 18 years old, so we don't really know his life expectancy."
In the end, they wanted to give William every chance they could and decided to go with the transplant. If Utah had required a pre-birth screening, William could have been cured before he left the womb.
"We have a beautiful baby boy," Abbey Branch said. "I want to raise awareness of this wretched disease and let people know that it is preventable, and no family should have to go through what we did."
From Burlington to Utah
Though she makes her home in Vernal, Utah, 34-year-old Abbey Branch is a hometown girl. A 1999 Burlington High School graduate, Abbey was born and raised in Burlington, and her father, Ron Glasgow, was principal of Notre Dame.
Abbey eventually met and fell in love with a U.S. Marine by the name of Robert Branch, got married and moved to Jacksonville, N.C., in 2006. The happy couple moved to Robert's home state of Alabama shortly after that, then traveled to the West Coast before returning to the South.
"We traveled from Washington to Alabama, taking the long route along the coast, living on family and friends' couches and campgrounds along the way," Abbey said.
It was a quiet, happy life. Abbey and Robert bought their first home together in Alabama in 2009, and lived there for five years as Abbey taught school and Robert earned his degree in aerospace engineering.
They had no idea how much their lives were about to change. William was born the month after Robert graduated, and Robert's degree led to a job in Utah as a mechanical engineer for a hydroelectric dam.
But the best part of their lives was the bundle of joy they created.
A normal birth
William Branch entered the world with little incident in the summer of 2014, born at 40 weeks and weighing in at 8 pounds, 9.6 ounces.
"My pregnancy was great," Abbey Branch said. "It was an uneventful delivery, and we were home within the normal amount of time with our sweet little boy eating, sleeping, pooping, just like all other newborns."
The Branches moved to Utah last August when William was 2 1/2 months old, right before the onset of his symptoms.
Shortly after the move, William began to change. He became a picky eater, and his weight gain slowed dramatically. His parents thought it was due to stress from the travel and the switch from breast milk to formula, but they wanted to make sure.
"I immediately took him into the pediatrician, and we tried so many different types of formula. At one point the doctor gave him a diagnosis of milk protein intolerance, which wasn't true," Abbey said. "The doctors said that he was such a big boy it wasn't too scary that he wasn't gaining weight as quickly, but, of course, I was not OK with any change in my boy's eating habits and weight gain."
William stopped growing at about 14 pounds. His muscles and joints started to stiffen. His parents still could bend his arms and legs, but they were rigid.
"At that time, I went to another pediatrician, and he thought it may be cerebral palsy. I was floored," Abbey said.
Since cerebral palsy is a brain injury that occurs before, during or after birth, the Branches didn't think the diagnosis made any sense. They went to another pediatrician who referred them to the Primary Children's Hospital in Salt Lake City, Utah, starting a long journey to determine what afflicted their son.
"Soon after he turned 5 months old, he quit eating completely. I couldn't even get him to take Pedialyte any more," Abbey said. "After several tests and an abnormal MRI, it was presumed he had a rare genetic disorder."
They later found out that rare genetic disease is a type of leukodystrophy called Krabbe disease. And it was more horrible than they possibly could imagine.
"We were told he would not live past his second birthday," Abbey said. "There is treatment for it, but only if it is caught before symptoms began. We were told there was no treatment available for William because he had already started to show signs."
The Branches were told William eventually would die from not being able to breathe on his own. They were told he would lose control of his motor functions and would go deaf and blind and have seizures.
"Paint a picture of every parent's worst nightmare, and that was what we were given after our trip to Salt Lake," Branch said. "The blood test took three weeks to get the results, and in the meantime we were sent home on an NG feeding tube to get William his much-needed nutrients. Ironically, all of his symptoms correlated with malnutrition, so we were really hoping that with some food, his body and brain would heal itself."
But the only thing that would stop the march of the disease were the stem cells in umbilical cord blood.
Begging for a transplant
Robert Branch pleaded with the Salt Lake neurologist to find someone who could do a cord blood transplant. The doctor said it was too late, and his colleagues from around the country agreed.
"We refused to be told no," Abbey said. "My best and wonderful friend, Katie, who is a registered nurse, found a doctor in Pittsburgh who specialized in rare leukodystrophies, including Krabbe, and gave me the website to check out. I called immediately. They said he is most likely a great candidate because his disease is progressing so slowly."
It was a flicker of hope that came with more than a few caveats. A successful transplant would not cure William, but it would help any deterioration that had already taken place. The transplant also stops the progression of the disease, which means William will keep any skills he's already developed.
"He just can't move very well, but he still coos at me, smiles at strangers, laughs and gets irritated at me when I won't stop giving him kisses. He tries pushing me away, and I love it," Abbey said.
The Branch family left Dec. 15 for Pittsburgh, Pa., to have the transplant, terrified of what was to come. Transplant day came about a month later.
Surviving the transplant
William had to undergo chemotherapy for two weeks to clean out his old bone marrow, then received an infusion of cord blood from a specifically matched donor to reset his system with a complete protein set.
Robert and Abbey stayed at the Ronald McDonald House while William was hospitalized, and Robert worked with his employer to relocate his desk to Salt Lake City.
William made it through the transplant with flying colors, though the days that followed proved to be difficult.
"William is proving time and time again how strong he truly is," Abbey said. "But nothing could really prepare us for how difficult it has been for our little guy. He had the common side effects from chemo, and his pain and restlessness have been difficult to manage."
At this point, the Branches aren't sure what William will be capable of as he grows up. The doctors are certain he will never walk, possibly never talk, and he'll need round-the-clock care.
William will keep his vision, hearing and receptive language skills as a result of the transplant, but his life expectancy is still a little gray. So far, everyone who has received the transplant is still alive, with the oldest being 18.
William is only the 25th patient in the country to receive a reduced toxicity chemotherapy regimen, for which he is a study participant. The disease still progresses for up to a month post transplant while the stem cell infusion takes effect.
Also, the chemotherapy itself can accelerate neurological damage done by the disease. After 100 days past surgery, his internal system will stabilize, but it could take up to a year for William's immune system to return to par.
William's parents said they will never saddle him with the limitations of medical experts.
"Robert and I are holding very high standards for our little boy, and we will never give up trying to teach him those things. We're not letting the doctors tell us what he can and cannot do. Simple as that," Abbey Branch said.
The Branches realize life will be a daily struggle for William. But they believe he can overcome those challenges.
"As emerging and new technologies come to light, there is no telling what the future holds for treating or dealing with the irreparable damage that has already been done to his neurological system," Abbey said.
A sweet fundraiser
William and Abbey must stay in Pittsburgh for another month before they can go home, and Robert has made the cross-country trek from Utah to Pennsylvania more times than he can count.
That's why his friends and family are hosting the Sweet William's Way benefit from 6 to 11 p.m. Saturday at the Comfort Suites.
Without Abbey's parents, Ron and Marcia Glasgow, there would be no fundraiser.
"When William was diagnosed with this horrific disease, we both needed to do something," Marcia Glasgow said. "We have been married for 43 years, have had three amazing children and eight beautiful grandchildren. We have lived in this perfect bubble until William was diagnosed with Krabbe disease. Our bubble had burst, and our hearts started hurting. We were very fortunate to have had William and Abbey live with us for six weeks this past summer."
The Glasgows have been an integral part of William's journey since he was born, but they felt they needed to do more. Though the Branch family has insurance, much of their medical expenses have come out of pocket.
"Marcia called a couple of friends in early January and asked if they would help get a fundraiser organized," Ron Glasgow said.
That started the ball rolling. Those two friends called more friends and family, and the fundraiser group has been meeting every Friday since January.
"We are in awe of what they have accomplished," Marcia Glasgow said. "It could not have been done without them. We are also humbled by the support of this community with their donations toward this fundraiser. We always knew we were born and raised in a great town, but never knew how great until now."
The fundraiser will consist of live music by the band Fast Forward, a live and silent auction, raffle prizes such as a 60-inch television and an iPad, food and drink and children's activities.
"You will be able to meet our sweet William through a slide show presentation and can see for yourself what a beautiful grandson we were blessed with," Ron Glasgow said.
A golf tournament also will be held on May 30 at Flint Hills Golf Course, and two of Abbey's friends in Arizona raised more than $11,000 with a single garage sale. There also is a blood drive being held the entire month of April at the Mississippi Valley Regional Blood Center in honor of William.
People can contribute to the Branch family by visiting www.gofundme.com/sweetwilliamsway or by visiting Sweet William's Way on Facebook.
The most heartbreaking part of William's story is the knowledge the disease could have been prevented.
"In the case of our son, because he wasn't tested for it (Krabbe Disease) at birth, we were not aware he had any underlying problems until symptoms had begun," Abbey said.
Only a few states have screening for Krabbe and other metabolic disorders, and New York and Missouri are the only states that screen for Krabbe disease at birth. Illinois, New Mexico, New Jersey and Pennsylvania have passed legislation to add it to their newborn screening panels.
No state includes all 56 recommended potentially fatal, but treatable, diseases in its Newborn Screening Program.
"Write a personal letter to your local legislators, Tom Courtney and Dennis Cohoon. By doing so, you can let William's journey so far help prevent other families from enduring the heartache and pain that our family has and will continue to endure. We need to be heard," Marcia Glasgow said.
You don't have to have a family history of Krabbe disease for it to strike your offspring. Abbey and Robert Branch certainly didn't.
There are 200 different known types of Krabbe disease that fall into four categories - early infantile (of which Abbey is a non-affected carrier), later onset infantile (symptoms appear between 6 months and 3 years of age), juvenile onset Krabbe disease (which manifests at the age of 3 or later) and adult onset Krabbe disease, (of which Robert is a non-affected carrier.)
The disease commonly is misdiagnosed as colic, reflux, food/milk allergy and cerebral palsy.
For more information on symptoms and legislation, visit www.huntershope.org.