Patient Stories

All Articles in the Category ‘Patient Stories’

Boy With Rare Craniofacial Condition Inspires Others With a Simple Message

Charlie Portrait

Charlie Nath, 11, has a simple message to share with the world.

Charlie Nath, 11, is many things. He’s funny. He’s smart. He’s articulate. He’s courageous. He’s a surfer. He’s a snowboarder. He’s a drummer.

What he’s not, is defined by his rare genetic condition: Crouzon syndrome. He says he wants the world to know, “It’s what’s on the inside that matters the most.”

Changing the world one speech at a time

Crouzon syndrome is estimated to occur in about one of every 62,500 people. It affects each person differently and the severity varies widely. The condition occurs when there is an abnormal fusion of the facial bones and skull, which affects the shape of the head and the appearance of the face. For Charlie, his eyes are set wider apart than normal, he has prominent eyes and his upper and lower jaws don’t align properly. Read full post »

New Hope for HIV Treatment: Empowering the Immune System Through Immunotherapy

Tranisha Arzah, 26, was born with HIV and works as an HIV educator.

People who acquire HIV can lose a critical function in their body: their immunity. Left untreated, HIV infects the immune system and disables a person’s ability to fight infections, which can turn the common cold into a death sentence. Antiviral treatment can prevent this from happening, but if medications are stopped the virus comes back almost immediately.

Currently, one out of every 200 American adults lives with HIV. As doctors, scientists and advocates gather in South Africa this week at the International AIDS Conference, researchers at Seattle Children’s have been thinking hard about how to kick HIV, and they have an ambitious goal: They want to develop an immunotherapy that harnesses the power of the immune system to kill and resist HIV.

“Immunotherapy has been successful in treating cancer and we’re optimistic that we can take that same technology and apply it to HIV,” said Dr. Thor Wagner, an infectious disease specialist and pediatrician at Seattle Children’s Research Institute. “The hope is that in the future we’ll be able to take an HIV-positive person’s T cells and re-engineer them to attack and resist the virus.” Read full post »

Revolutionary Surgery Helps Little Girl Breathe Without a Tracheostomy For the First Time

Hannah Schow,11, with mother, Jennifer Schow.

Hannah Schow,9, with mother, Jennifer Schow.

There were only a few weeks to go in Jennifer Schow’s seemingly normal pregnancy when her world turned upside down.

She noticed she’d been gaining weight suddenly, more than she thought was expected. Her doctor said everything seemed fine, but something didn’t feel right.

Feeling uneasy, she and her husband got a second opinion and the news they received confirmed their fears.

“I could see the baby’s face on the ultrasound screen,” said Schow. “I joked that it looked like her ear was missing.”

The ultrasound technician became quiet and said she’d be right back. That’s when Schow knew there was something seriously wrong. Read full post »

Care Team Brings Prom to Teenager Waiting for a New Heart, Helps Her Attend Graduation With a Second Chance at Life

Bella Anderson, 18, missed nearly two months of her senior year waiting for a heart at Seattle Children's.

Bella Anderson, 18, missed nearly two months of her senior year waiting for a heart at Seattle Children’s.

Isabella (Bella) Anderson, 18, was running out of time. Her heart was failing and doctors didn’t know how much more it could withstand. She needed a change in luck and some good news.

Finally, Bella got just that: a surprise and the news she’d been waiting for.

A long road to transplant

At only 10 years old, Bella went to see the doctor for strep throat, but doctors found something more alarming: a heart murmur. She was diagnosed with hypertrophic cardiomyopathy, a disease of the heart muscle’s wall.

From that day forward, she was monitored closely by Seattle Children’s Heart Center, one of the best pediatric cardiology and cardiac surgery programs in the U.S., and the top-ranked program in the Pacific Northwest, according to U.S. News & World Report.

Unfortunately, as time progressed, so did her heart condition. Cardiomyopathy reduces the heart’s ability to pump blood effectively and can lead to congestive heart failure.

Slowly, her heart began to fail. Read full post »

Teen Discovers Talent In Punching Bag After Losing Use Of Legs

Dr. Michael Astion coached Isaac Turnbull in speed bag while the teen was in the Seattle Children’s Rehabilitation Unit.

After his all-terrain vehicle crashed near his home in Wasilla, Alaska, in March, Isaac Turnbull had the presence of mind to call his dad. He was okay, he said, except for one thing: He couldn’t feel his legs.

Isaac, 16, soon learned that he had fractured his back and injured his spinal cord. In a split second, he lost the use of his legs.

After three weeks in an Anchorage hospital, Isaac came to Seattle Children’s Rehabilitation Unit to continue his recovery and begin to learn the skills he would need to live in a wheelchair.

“When he got here he was feeling pretty hopeless — you could see it all over his face,” said occupational therapist Emily Sabelhaus, who worked with Isaac.

The goal of rehabilitation is to help patients find a way to get back to the activities they love, Sabelhaus said, but at first Isaac — an Alaska kid who loves to hunt and fish and be outdoors — couldn’t imagine how he would do that. He couldn’t see that his life, while different than he expected, could still be fulfilling and happy.

Halfway through his six-week stay on the rehab unit, Sabelhaus asked Isaac if he maybe wanted to punch something. Then she brought in an expert, Dr. Michael Astion, to show him how. Read full post »

Mom Donates a Kidney to a Stranger to Save Her Son as Part of a Life-Saving Kidney Chain

Nigel Dalton 008Belinda Hudson would do anything for her 18-year-old son, Nigel Dalton. So when he needed a kidney, she didn’t hesitate to offer one of her own.

Unfortunately, she wasn’t a match.

“I always thought I’d be able to give him mine,” said Hudson. “I’m his mom. I couldn’t believe I wasn’t a match. I felt so helpless.”

She was, however, a perfect match for someone else, a complete stranger. So again, without hesitation, she offered her kidney, and in return her son found a match as well.

And so, through the National Kidney Registry, a chain of six people and three kidneys was formed, all linked together by the gift of life. Read full post »

From 35 Percent Chance of Survival to Five Years Cancer-Free, Double Stem-Cell Transplant Improves Outcomes for Kids With High-Risk Neuroblastoma

Katie Belle, now 10 years old, was diagnosed with high-risk neuroblastoma when she was 3.

Katie Belle, now 10 years old, was diagnosed with high-risk neuroblastoma when she was 3.

In August of 2009, when Katie Belle was just 3 1/2 years old, a persistent fever led her to Seattle Children’s Emergency Department where doctors discovered a baseball-sized tumor in her abdomen. She was diagnosed with high-risk neuroblastoma, a cancer that starts in immature nerve cells and develops into tumors. Her chance of survival: 35%.

“I felt like someone stuck a dagger in my stomach,” said Katie’s mother, Jennifer Belle. “I couldn’t breathe. However, I had to put on a brave face for Katie.”

For children with high-risk neuroblastoma, which according to the National Cancer Institute occurs in approximately one out of 100,000 children, Katie’s prognosis was not uncommon. On average, less than 50% of children with this disease live five or more years after diagnosis.

However, a Phase 3 trial performed by the Children’s Oncology Group (COG), and led by Seattle Children’s oncologist Dr. Julie Park, has found that adding a second autologous stem-cell transplant, which is a transplant that uses the patient’s own stem cells, to standard therapy improves outcomes for patients with high-risk neuroblastoma. Read full post »

Doughnut Shop Tip in Texas Leads Family to Immunotherapy Cancer Trial, Zane Becomes Cancer-Free

“As a parent, you never want to hear that your child has cancer,” said Paul Esposito, of Plano, Texas. “It creates an emotion that starts at your feet and takes hold. It’s devastating.”

This was the terrible news Paul and his family received in 2010 when his son, Zane Esposito, was only 7 years old. Zane, now 12, was diagnosed with acute lymphoblastic leukemia (ALL) in June 2010. Zane underwent three grueling years of cancer treatment, including 365 days of chemotherapy, before reaching remission. Two years later, Zane relapsed in January of this year. Their only option: another three years of aggressive chemotherapy.

“I really don’t like chemo, it’s the worst,” said Zane. “My back hurt super bad due to tiny fractures from the chemo. I couldn’t even bend over to tie my shoes. And here I was having to start another three years all over again.”

Not only was the thought of starting over daunting, but Zane faced a major hurdle as he began chemotherapy – his cancer was not responding to the treatment. He had refractory ALL. Zane and his family were desperate for another treatment option.

About 2,000 miles away in Seattle, Wash., they would find that other option. But first, they would learn about it in the most unlikely place: a doughnut shop. Read full post »

Boy Donates Part of His Brain to Science, Researchers Discover Major Cause of Epilepsy

Alden Bernate, 12, needed neurosurgery to stop his relentless seizures. Brain tissue donated from that surgery led to a discovery of a gene linked to intractable epilepsy.

Alden Bernate, 12, is only a middle school student, but he’s already played a big part in groundbreaking epilepsy research. He donated brain tissue for scientific research after he had surgery to disconnect part of his brain that was causing severe seizures.

The human genetics team at Seattle Children’s Research Institute, led by Dr. Ghayda Mirzaa and Dr. William Dobyns, used Alden’s brain tissue along with the tissue from other patients to discover a new gene mutation that can cause intractable epilepsy. The finding opens the door to potential treatments that target that gene. The team’s findings are published in the current issue of JAMA Neurology. Read full post »

New Gene Sequencing Technology Opens Door to Faster Diagnoses

Kaylyn Milligan and her son, Owen. Milligan lost two babies due to a genetic mutation she didn’t know she had. After a careful review of her genome, Dr. James Bennett was able to identify the mutation and Milligan was able to make educated family planning decisions.

There are times when a child comes to the hospital with symptoms and even after a thorough exam and many tests, doctors can have a difficult time making a diagnosis. Now, doctors and researchers at Seattle Children’s have a new tool that will be key in finding answers for patients and their families: A next generation gene sequencer that can be used to sequence DNA quickly and make diagnoses in complex cases.

The machine, an Illumina NextSeq, can sequence all of the genes in the human genome in just 24 hours. The enormous amount of data generated by this machine will be processed using the PierianDx analytical pipeline.

“This new technology will dramatically decrease the cost of gene sequencing for our patients and will help us make quicker diagnoses, especially in complicated cases,” said Dr. James Bennett, a geneticist and researcher at Seattle Children’s Hospital and Seattle Children’s Research Institute. “Families can sometimes go years without a diagnosis. Now, we’ll be able to provide more answers and identify potential therapies based on what we find in the genome.” Read full post »