Trevor was born with rare disease called maple syrup urine disease. Seattle Childrens transplant program is one of six centers in the country to offer transplantation for children with MSUD.
Only a week after giving birth to twins, a girl and a boy, in July of 2008, Annette Cole’s world was turned upside down. Something was wrong with her baby boy, Trevor Clemons. In his first couple weeks of life he was lethargic, irritable and couldn’t keep any food down. She was overwhelmed with fear as doctors delivered the difficult news.
The diagnosis felt as unreal as the name of the disease sounded: maple syrup urine disease (MSUD).
“We couldn’t believe it,” said Cole. “When we first found out about the disease, we had never heard of it before. We didn’t know what to expect. We didn’t know anything.” Read More »
In a northern California suburb in 1999, Kaitlin Burns was born very sick, that much was certain. She was extremely lethargic, vomited non-stop and soon wouldn’t eat anything. When her family finally received a diagnosis two weeks after her birth, the news was devastating.
Kaitlin was diagnosed with propionic acidemia, a rare, inherited metabolic disorder that affects about one in 100,000 in the United States. Propionic acidemia prevents the body from processing protein properly, leading to an abnormal buildup of a group of acids known as organic acids. Abnormal levels of organic acids in the blood, urine and tissues can be toxic and can cause serious health problems.
Michelle Burns, Kaitlin’s mother, recalls how the local hospital at the time was their second home. “During the first year of her life, I can’t even count on my fingers and toes how many trips we made,” she explains.
Read More »
4-year-old Ruby was born with biliary atresia and had a transplant in 2022 at Seattle Children’s
After receiving a life-saving liver transplant at Seattle Children’s, 4-year-old Ruby Josephine Mwamba is thriving and living a dramatically different life than she was at this time last year.
Ruby was born with biliary atresia, a liver condition that occurs when a baby’s bile ducts do not form normally and are unable drain bile. Bile is the liquid that helps the body break down fats, from the liver. When it doesn’t drain, it can cause scarring of the liver and yellowing of the skin and eyes called jaundice.
Ruby’s parents Melissa and Gabriel Mwamba learned about Ruby’s disease shortly after she was born. At only a few months old, Ruby had surgery to try to correct her condition, but unfortunately the relief was short-lived.
Read More »
The Hurtados enrolled their children in the Studies in Pediatric Liver Transplant (SPLIT) database which follows children who receive a liver transplant in the U.S. or Canada. They hope researchers will use this information to help other families like theirs.
Having one child in need of a liver transplant can be tremendously challenging for a parent. Eugenia and Justino Hurtado have four.
All four of the Hurtado children were born with Maple Syrup Urine Disease (MSUD) — a rare genetic metabolic disorder in which the body is unable to break down certain parts of proteins due to an enzyme deficiency. The disease can lead to a buildup of toxic substances that cause organ and brain damage.
Adolescents and adults with MSUD are also at risk for attention deficit disorder, anxiety and depression. Infections, stress, surgeries and injuries can lead to neurological damage at any age.
People with MSUD get most of their nutrients from a prescribed liquid formula. They can eat some low-calorie foods but must be very careful. If they stray from the diet, they can experience muscle spasms, breathing failure, intellectual and developmental disabilities or even coma. Read More »
Dr. Evelyn Hsu, Seattle Children’s Division Chief of Gastroenterology and Hepatology, wants to ensure racial equity in transplants.
Seattle Children’s recently named Dr. Evelyn Hsu the division chief of Gastroenterology and Hepatology. For more than a year, Hsu was the acting chief while a national search was conducted.
In this interview, Dr. Hsu talks about her extensive medical career, her vision for the future and what hope, care and cures mean to her. Read on to hear more about her incredible journey and her passion for helping children live the most fulfilling life possible.
Read More »
Photo credit: Kelsey Adrienne Photography.
Janessa Felt watched helplessly as her 2-year-old daughter’s sunny disposition began to fade away. Charlotte’s bright smile and infectious laugh usually hid her struggle well, but that façade was cracking. Charlotte was getting sicker, which was evident by her yellow skin, the silver highlights in her hair and her large distended belly. Her piercing blue eyes were sadder than usual. She laid cradled and uncomfortable in her mother’s arms as fluid built up in her abdomen. Her liver was failing her.
Charlotte was admitted to Seattle Children’s a week earlier. Hospital stays weren’t abnormal for them, but this time was different.
“It is hard to watch your baby be so sick, hooked up to so many machines, and not be able to do anything,” Janessa said. “As a mother, you want to be able to take that pain away.”
Janessa didn’t know how much longer Charlotte would be able to wait for a miracle. She had been on the waitlist for a new liver for year already.
“It wasn’t scary until recently,” Janessa said. “Now, it’s clear she needs a new liver. We just want her to start feeling better. It’s heartbreaking to watch her go through this.” Read More »
Picturing her daughter making it to her first birthday was difficult for Rachael Rowe as she watched her baby struggle to survive each passing day waiting for a liver transplant.
Time officially took its toll on Feb. 6, 2018 — four months after 10-month-old Raylee was put on the transplant waiting list.
“I remember it was 3:00 a.m. in the morning when I heard Raylee screaming in pain,” said Rowe. “Never in my life had I heard a baby cry like that before. It was terrifying.”
After spending three hours trying to comfort her normally smiley and happy baby, Rowe took Raylee to the emergency room near their home in Portland, Oregon.
Read More »
Elliott Kaczmarek, 3, poses with his mother, Nicole, and father, Jonathan.
This April, in recognition of Donate Life Month, On the Pulse shares the story of how a life-altering diagnosis put one family on a philanthropic journey to help others in need.
When Elliott Kaczmarek was 10 months old he came down with what his parents thought was a stomach bug.
“He wasn’t feeling well, but we didn’t think much of it at first,” said Jonathan Kaczmarek, Elliott’s father.
Just in case, the Kaczmarek’s called Elliott’s pediatrician. Initially, there was no cause for alarm. He had a mild fever and threw up a few times, and so their biggest worry at the time was dehydration.
“After a few days he started getting better,” said Nicole Kaczmarek. “Then his condition changed. He turned green and pale and was lethargic. It was then we knew he needed to go the urgent care.” Read More »
Olivia was born with a rare disease of the liver.
Patricia Alva knew, even before her baby girl was born, that something was wrong. When she was pregnant, doctors detected a cyst on the baby’s stomach during an ultrasound.
“It was heartbreaking,” said Alva.
After she was born, doctors diagnosed baby Olivia with biliary atresia, a rare disease of the liver. It occurs when a baby’s bile ducts do not form normally. It occurs in about 1 in every 15,000 babies. Read More »
Parker Rana, 15, has truly overcome the odds to get to where he is today. Born with multiple heart defects, Parker grew up in and out of the hospital. But now, he’s a thriving teenager with an incredible story of hope.
Below is Parker’s story: from hospital bed to trackside, cheering on his favorite racing team, The Heart of Racing.
An unexpected delivery
Jaydine Rana, Parker’s mother, was expecting a healthy baby boy when she delivered Parker on June 2, 1999 in Mt. Vernon, Wash. Unfortunately, she got some unexpected news that day. Parker was born with a combination of four heart defects – a hole in his heart, a missing pulmonary artery and valve, an enlarged ventricle and an overriding aorta. He was airlifted to Seattle Children’s Hospital shortly after birth for treatment. Read More »
