Patient Stories

All Articles in the Category ‘Patient Stories’

‘Like Looking at a Miracle’: Baby Blossoms Thanks to Gene Therapy

Arabella Smygov, 7 months, of Lynnwood, Washington was one of the first babies in the state to receive the gene therapy, Zolgensma. The U.S. Food and Drug Administration approved Zolgensma for the treatment of Spinal Muscular Atrophy in children less than 2 years of age this month.

When Arabella Smygov was diagnosed with spinal muscular atrophy (SMA) type 1 at 3 months old, the first recommendation Dr. Fawn Leigh, a neurologist at Seattle Children’s, gave her parents, Sarah and Vitaliy, was to wait on searching for information about SMA online.

This is because up until a few years ago, SMA type 1 was a fatal diagnosis. Most of the information available online painted a bleak picture. Babies diagnosed with SMA type 1, the most severe and common form of the neurodegenerative disease, usually don’t survive beyond age 2 and if they do, they require full support for breathing from a ventilator.

Leigh had good reason for wanting her parents to have hope for Arabella’s future. Two treatments, including the first-ever drug approved for the condition by the U.S. Food and Drug Administration (FDA) in 2016 called Spinraza, and Zolgensma, a gene therapy approved by the drug agency this month, are rapidly changing the trajectory for children with Arabella’s condition.

“I always remember back to when I had to offer my first SMA diagnosis,” Leigh said. “I was heartbroken to tell this young couple that we didn’t have anything for their baby. Now, we’re planning a future for these babies because we have not one, but two good treatment options.” Read full post »

Makenzie Dances Again After Pediatric Stroke

Makenzie Childs, 6, has returned to doing what she loves most – competitive dance – following a stroke in October 2017.

The lopsided smile on Makenzie’s face said it all. She had just thrown up, and her dad, Shawn Childs, was helping her get cleaned up in the bathtub.

“My husband yelled for me to come into the bathroom and then asked Makenzie to smile,” Jamie Childs, Makenzie’s mom, said. “The smile was devastating. It was only the right half of her face. I knew something wasn’t right.” Read full post »

Charlotte’s Journey to Transplant

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 full post »

Mother of Micro Preemie Twins Shares NICU Advice

At 10 months old, Amelia and Calvin Phillips have proven they are fighters, overcoming multiple obstacles to get to where they are today. The twins were born as micro preemies, a term used for babies born before 26 weeks gestation, or who weigh less than 1 pound, 12 ounces.

Throughout their time in Seattle Children’s Neonatal Intensive Care Unit (NICU), their parents, Amanda Littleman and Nathan Phillips, have been by their side. In time for Mother’s Day, Littleman shares her story and advice to mothers in a similar situation.

“Everyone tells you that the NICU will be a rollercoaster ride, and it really is. But it does get better,” Littleman said. “Just seeing Calvin and Amelia today makes all the ups and downs and scary conversations worth it. I can’t believe how far they have come since the day they were born.” Read full post »

Madeline Pursues New Dream After Overcoming Cancer Four Times

Madeline Boese, with her mom Terri, cancer-free after a 12-year battle with acute lymphoblastic leukemia.

When Madeline Boese was 14, she had visions of pointe shoes, tutus and sugar plums dancing in her head. She dreamed of becoming a professional ballerina, and hoped for a future in the spotlight doing what she loved.

Unfortunately, her body had different plans.

One day in ballet class in December 2006, she noticed an odd golf ball-sized lump on her left thigh below her pink tights. Her mom, Terri Boese, said a trip to their doctor in their hometown of Plano, Texas, led to a bone-chilling discovery.

“I was terrified when I heard ‘malignancy detected,’” Boese said. “It was awful and so out of the blue. I felt like I was going to hyperventilate, and it took all I had to hold myself together.”

Madeline was immediately referred to a hospital in Dallas where she was diagnosed with acute lymphoblastic leukemia (ALL). From there, Boese said everything moved rapidly as Madeline began what would be two and a half years of grueling chemotherapy treatment.

Read full post »

Avery’s Miracle Showed up Wearing Cowboy Boots

On July 10, 2018, Avery Crawford entered the world – a beautiful and seemingly perfect baby girl. Little did anyone know about the battle that was secretly raging in her tiny body as her heart struggled to do its job.

Avery was a miracle to her parents, Elaine and Jordan Crawford. Their 7-year-old son, Quincy, had always wanted a little brother or sister, but doctors said it wasn’t possible. Years went by and they began to lose hope. Then one day, out of the blue, their dream came true. Elaine was pregnant.

“She was a gift,” said Elaine. Read full post »

A Mother’s Mission to Advocate for Organ Donation

United States Army Special Operations Command Lt. Col. Trevor Hill, flew to Seattle from his home in North Carolina to donate part of his liver to his 8 ½-month-old nephew, Hudson. Today, 2-year-old Hudson is thriving.

Hudson Hill was born with biliary atresia, a liver condition that affects a baby’s bile ducts. At only 2 months old, Jordan Hill’s beautiful blue-eyed baby with long brown locks was in dire need of a new liver. His only hope was a donor. Below, Jordan explains the hopelessness she felt after her son was diagnosed and why she now advocates for organ donation.

At 6 weeks old, my son, Hudson, was diagnosed with a rare liver disease. As parents, you do everything in your power to protect your children. Despite our efforts and optimism, we couldn’t protect Hudson from his failing liver. We faced a truth that no parent should: without a new liver, our son wasn’t going to survive and there was nothing we could do about it. At 12 weeks old, Hudson was officially placed on the national organ waiting list. As I reflect on how I felt that first year, I always come back to the same word: helpless. Read full post »

Scientists Find Clues to Rare Mutation Hours After Toddler’s Brain Surgery

At 5 months old, Tyler Cassinelli, now 3, was battling both liver cancer and intractable epilepsy. When he was at Seattle Children’s preparing to undergo cancer treatment, Tyler had a seizure that stopped his breathing.

“It was one of the scariest moments of my life,” said Jane Cassinelli, Tyler’s mother. “We could see his stats on the monitor dropping, and doctors came rushing in.”

Doctors quickly intubated and revived Tyler. Five months later, his cancer was in remission. However, he continued to have unpredictable and life-threatening seizures that multiple medications failed to stop.

Genetic testing revealed that Tyler had a mutation of the HCN1 gene. Children with this rare abnormality are at risk for traumatic epilepsies, said Dr. Nino Ramirez, director of the Center for Integrative Brain Research.

“It was difficult to hear that Tyler was expected to have a lifetime of hard-to-control seizures due to a genetic disorder,” said Cassinelli.

In addition to the mutation, Tyler had a brain malformation called focal cortical dysplasia, a common cause of intractable epilepsy. Testing showed Tyler’s seizures were coming from an area on the left side of his brain. Brain surgery to address the problematic lesion could help, and what’s more, his brain could also enable researchers to unlock some of the mysteries of the genetic mutation.

“Tyler’s situation was unique and extremely desperate,” said Ramirez. “There is great clinical interest worldwide in better understanding the HCN1 mutation, and Tyler’s brain could provide a rare window into its role in epilepsy.” Read full post »

Two Heart Transplants and Three Birthdays Later, Mya is Thriving

After undergoing two heart transplants before she was 4 years old, 13-year-old Mya Garcia (above with her brother Marcel) is thriving today.

Mya Garcia, 13, has three birthdays. The first one celebrates the day she came into the world. The other two commemorate the days she was brought back to life.

When she turns 18 years old, her mother, Jamie Gonzalez, has a special gift for her miraculous daughter – a heartfelt letter to honor a day she was worried may never come. It’s a letter she’s been holding onto since her daughter was just 4 years old. She wrote it after Mya received the ultimate gift – a second heart; a third chance at life.

“I wrote her a letter to open when she turns 18 that shares in detail everything she went through after she was born, so she truly knows how hard she had to fight for her life,” Gonzalez said. “I don’t ever want her to take her precious life for granted.”

In 2006, three weeks before Mya was due to be born, an ultrasound revealed she had a serious congenital heart defect and her heart rate was dropping rapidly. Gonzalez was induced, and soon after Mya arrived, she was transferred to Seattle Children’s neonatal intensive care unit (NICU).

“It was awful and traumatic,” Gonzalez said. “I just remember holding her tiny little hand hoping everything would be ok.” Read full post »

Ski Day Gives Kids the Opportunity to Hit the Slopes for the First Time

There was one thing that was brighter than 8-year-old Jana Staudenraus’ coral ski jacket and orange helmet as she flew down the mountain at Stevens Pass this weekend on a sit ski: her big smile. As she came to a stop at the bottom of the slope, her family was there cheering, celebrating the first time Jana had ever skied. The exuberant little girl couldn’t wait to do another run. “I want to go again,” she exclaimed. “I want to go fast.”

Another lap down, with her ski instructor tethered behind her, Jana was beaming with joy.

“Did you see me?” Jana asked her mom.

“Yes. You are doing such a great job,” her mother replied.

“I fell once,” Jana said frowning slightly.

“Yes,” her mother said sympathetically. “But just like in life, what do we do when we fall?” she asked warmly. Read full post »