Sage Taylor was born with a severe malformation in the right hemisphere of her brain – a condition that caused her to have hundreds of tiny “micro” seizures every day. Here, mom Sam Rosen reflects on their leap of faith with a neurosurgeon at Seattle Children’s and how Sage’s life took a dramatic turn for the better.
Sage Taylor, now 9 years old, came to Seattle Children’s soon after she was born because she was having hundreds of tiny seizures each day.
In October 2005 my husband Don Taylor and I were blessed with a second daughter. All prenatal tests were normal and my delivery was easy. She was perfect, though more restless than our older daughter and not as good of a sleeper.
Three weeks after Sage came into the world, I was taking a post-partum class for new moms. The nurse instructor took me aside and encouraged me to take Sage to Seattle Children’s as soon as possible for an EEG – a test that measures and records the brain’s electrical activity. She explained she thought Sage had a very slight jerkiness of movement in her arms and legs that might not be normal.
And so began our journey with the incredible doctors and nurses at Seattle Children’s. Read full post »
Erik Twede was just 3 years old when he was diagnosed with Duchenne muscular dystrophy, a fatal genetic disorder that causes progressive muscle weakness.
The day doctors told Karen Twede her son Erik had Duchenne muscular dystrophy, she went straight home and searched for the mysterious illness in her medical dictionary. She read: “A progressive muscle disease in which there is gradual weakening and wasting of the muscles. There is no cure.”
“My breath caught in my throat,” Twede said. “It was a terrifying reality to accept.”
Thankfully, several clinical research studies being offered at Seattle Children’s Research Institute are giving hope to parents facing the same devastating diagnosis.
The studies, led by Dr. Susan Apkon, director, Seattle Children’s Department of Rehabilitation Medicine and an investigator in the research institute’s Center for Clinical and Translational Research, offer promise to better treat, or even cure, Duchenne, through the use of new therapies with fewer side effects.
“When I meet with patients with Duchenne and their families today, we have a very different conversation than we might have had 10 years ago,” Apkon said. “Today I ask my patients ‘What do you want to be when you grow up?’ because I believe in their future. I’ve been able to look ahead and see the research being done nationally and internationally and there seem to be treatments on the horizon.” Read full post »
While many people with epilepsy live a full life, some die abruptly without warning or other clear medical cause due to a devastating phenomenon called sudden unexpected death in epilepsy (SUDEP). SUDEP is the most common cause of death in those with severe forms of epilepsy where seizures cannot be controlled with treatment, but what causes this tragic event remains unclear.
Franck Kalume, PhD, and other researchers at Seattle Children’s Research Institute are working to change this.
“Having a family member unexpectedly pass away from this – without any explantation as to why – is extremely devastating,” said Kalume, who lost his nephew to SUDEP. “Even though this condition has been around since the dawn of time, it is only in the recent decades that there’s been a substantial increased interest in SUDEP research and in raising awareness about its risk. I hope that we will be able to make a life changing impact by furthering our knowledge of the physiological mechanisms of SUDEP and finding ways to prevent it.”
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In honor of World Down Syndrome Day, Melanie Harrington shares excerpts from her blog, Our Journey Through Life – a rich chronicle of a baby’s fighting spirit and a mother’s courage to walk “the road less traveled” and arrive a better person.
May 2012: Our world changes forever
We get the call we’ve been dreading: the baby boy I’ve been carrying for 15 weeks has Down syndrome. What?! How can this be? I’ve done everything right. I don’t drink, smoke, take medicine or eat foods I’m not supposed to eat. Why me? Why us? I am mad, sad, anxious and confused. Will we be able to love this baby? What does his future hold? Bullying, dependence, frustration? And, what does my 2-year-old son Cody’s future hold? Constant defending? Jealousy?
I’m feeling very un-mommy-like thoughts that I never thought I could feel about my unborn baby. Can I handle this? Can my husband, Chuck? Will our marriage survive? Right now, I don’t know the answer to these questions.
My doctor refers us to a genetic counselor for more testing. I don’t really gel with the first counselor, so she refers me to Seattle Children’s Genetic Counseling Clinic. This counselor immediately puts me at ease and I like her honesty. I also see Dr. Margaret Adam, who is wonderful and gives me lots of helpful information. Dr. Adam reassures me that Down syndrome can affect any family – one out of every 800 babies born in the U.S. has the condition.
June 2012: Grief…then acceptance
I still feel out of control – so desperate to understand what is really happening. I go to sleep and wake up not remembering if the diagnosis is a dream or real, then I remember. We cry a lot and worry all the time. We grieve for the child we thought we were having and we don’t know if we can ever come to terms with the child we are having.
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Nicky, right, before he went to his prom this year.
Over the past two years, 17-year-old Nicky Richens’ life has transformed. He has found independence and a sense of freedom that he has never before known thanks to a small, discrete device called a phrenic nerve stimulator.
Nicky was born with congenital central hypoventilation syndrome (CCHS), a rare disorder that affects the autonomic nervous system and causes kids to essentially forget to breathe. Those that have this condition require 24-hour ventilatory support. The phrenic nerve stimulator, or pacer, can be concealed underneath clothes, provides up to 16 hours/day of breathing support and allows patients to be fully mobile.
“Pacers enable kids to get the health benefits of constant, proper oxygenation and ventilation without looking different or being restricted by it, which is huge in the life of a child,” said Maida Chen, MD, director of Seattle Children’s Hospital’s Pediatric Sleep Disorders Center. “With pacers, kids go on to have very meaningful lives because they are healthier, they feel better and they are free to participate in their life.”
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Thousands of children are diagnosed each year with hydrocephalus, a condition in which the body can’t properly drain the fluid that builds up around the brain. Physicians commonly treat hydrocephalus by implanting a shunt in the brain to carry the excess fluid to other parts of the body.
Shunts save lives, but too often they also lead to infections that can require multiple surgeries and leave patients hospitalized for weeks.
Physicians don’t know why shunt infections are so common, or why they sometimes come back over and over again. But an investigator at Seattle Children’s Research Institute may have found a clue to this longstanding mystery.
In a study published today in PLOS ONE, Tamara Simon, MD, MSPH, and her colleagues outline a discovery that could help understand, treat and prevent future infections. Researchers used genetic sequencing to conduct the first-ever inventory of microbiota – the complex assortment of bacteria and fungi – found in the cerebrospinal fluid of eight children with shunt infections. They identified a surprisingly large and diverse variety of pathogens, including many never before associated with shunt infections. This suggests that many different pathogens may conspire to drive the infections.
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Dana Lockwood, 24, has had epilepsy, a disorder of the brain that involves repeated seizures, for as long as he can remember. Seizures were just a way of life and the frequency ranged from having one every one to two weeks, to having several throughout a week, all while on several medications.
Dana most commonly experienced simple seizures, which he describes as brief and disorienting surges of mental energy. Occasionally he also had complex partial seizures, which impair consciousness, and very rarely he had grand mal seizures that involved his entire body and required a trip to the emergency room. There was no telling when these would occur.
“Living with epilepsy has been quite difficult,” said Dana. “I couldn’t drive, which was hard because there is little public transportation where I live. I had to be heavily medicated and it made it hard for me to be independent. In general, it was just very disruptive to my life.”
Dana had nearly given up on his dream of living abroad and teaching English as a second language. His seizures made that an impossible option.
Now, after undergoing a cutting-edge treatment in February, Dana is seizure free. He hasn’t had a seizure in more than a month and will finally be able to learn to drive and start living a more independent life.
So how did he get rid of his seizures?
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From the time Logan Ellingsworth was born in June 2007, it was clear he was a fighter. Born prematurely with a variety of health issues from exposure to methamphetamines while in utero, Logan had a difficult journey ahead.
Brenda and Randy Ellingsworth, Logan’s grandmother and grandfather who adopted him after he was born, remember the first time they saw him in the intensive care unit at the hospital.
“Out of all the babies in the room, I was surprised to see that one was actually raising his head up as if to see who was coming in,” said Brenda. “I asked the nurse, ‘Who’s this little curious one?’ She said, ‘That is your precious little grandson and he is going to be a fighter.’ I started to cry because at that moment, we knew he was going to have major obstacles to overcome.”
The First Step: Facing Cerebral Palsy
Among the host of medical issues Logan faced, he was diagnosed with cerebral palsy, a disorder of the brain that affects muscle tone and the ability to coordinate body movements. It is caused by an injury to the brain, which can occur when a child is born prematurely.
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