By Rachel Nuwer
From the day her twins were born, Marcy Oakes-Henschel could see they were in chronic pain.
”They had really severe GI issues from birth,” says the Sherwood Park, Alberta, mom of sons Aidan and Connor. “They would scream and scream for hours, and fuss and then spit up.”
Connor’s acid-like diarrhea created painful diaper rashes. Aidan suffered severe constipation that created bloody fissures on his bottom. The boys screamed through the night. They – and their mom – seldom got more than four hours of sleep.
By the time the boys were 3 months old, Oakes-Henschel began noticing developmental delays. When either boy tried to sit up, his head lagged and he rolled backwards. Often, their eyes seemed to glaze over, she recalls. They withdrew from interacting with her or their toys. Meanwhile, their gastrointestinal problems grew worse.
By the time Connor was 8 months old, Oakes-Henschel knew that a half teaspoon too much rice cereal would trigger his vomiting. By the time Aidan was a year old, he needed frequent enemas to relieve his painful constipation.
The boys’ pediatrician prescribed the standard treatments. They ranged from fiber supplements to antacids. But nothing seemed to soothe their pain.
“I tried bringing up my developmental concerns with my pediatrician, but he would tell me to relax and have a beer. That they’re twins. They’re boys. They’re fine,” Oakes-Henschel recalls.
By the time the boys were 18 months, Oakes-Henschel knew she couldn’t wait any longer. She stayed up late one night drafting a letter to her pediatrician. It outlined her concerns bullet by bullet for each boy:
√ Won’t point
√ No eye contact
√ No verbalization
√ Doesn’t play with toys normally
√ Difficulty transitioning between activities
“Looking at that letter now, I almost diagnosed them with autism,” she says.
She faxed the letter to her pediatrician before falling into bed exhausted.
Early the next morning, his nurse called. The pediatrician wanted to see her and their dad immediately. The boys needed an evaluation by a specialist, he said, adding that he suspected pervasive development disorder.
“I googled the term that night and up comes the word autism,” Oakes-Henschel says. At first, she was devastated. Then, she recalls feeling relief. “At least I had an answer.”
After several months on a waiting list, the twins saw a multidisciplinary team for two days of assessments. Both boys were diagnosed with autism spectrum disorder (ASD). In addition, Connor would eventually receive a diagnosis of obsessive-compulsive disorder. Aidan, in turn, received the additional diagnosis of apraxia of speech - an extreme difficulty forming sounds and words.
With her suspicions confirmed, Oakes-Henschel dove into the scientific literature on ASD. She started attending autism conferences. She enrolled the twins in an early intervention program and started home-based therapy for their speech and motor delays and behavioral challenges.
The program and home therapies helped. But their agonizing GI issues persisted, even as they approached their third and then fourth birthdays. Connor couldn’t control his extreme diarrhea. “This was sour smelling, yellow, nasty stuff, to the point where if I didn’t clean it off within a minute or two, it would burn him,” Oakes-Henschel recalls. His stomach cramps caused him to withdraw emotionally. Often, his mom found him lying on the floor in an isolated corner of the house – pillows pushed into his abdomen.
Meanwhile, Aidan’s anal fissures sometimes bled and refused to heal because of his constant straining. Desperate, Oakes-Henschel started photographing her sons’ bowel movements to show a specialist.
She put the boys on a lengthy waiting list to see Rabindranath Persad, M.D., a pediatric gastroenterologist at the University of Alberta Hospital. Oakes-Henschel had heard positive reviews of the doctor – talking to other mothers of children with autism and special needs.
She spent nearly 10 hours preparing for the appointment. She made copies of scientific reports she’d found online. She took notes while reviewing videos of the conference talks she attended. She gathered her “poop photos” and the twins’ medical records – starting with her own prenatal exams.
On the day of the appointment, she left Aidan and Connor at home. Instead, she brought her half-foot thick stack of papers. When Dr. Persad entered the exam room, Oakes-Henschel saw his confusion as he scanned the room, looking for the boys.
“I said, ‘They’re not here. Would you like to start, or should I?’” she recalls. Dr. Persad stared. “I think he quickly realized he was dealing with a very educated mum,” she says. “As it turned out, he was the first doctor who truly listened to me.”
Dr. Persad likewise remembers their talk vividly. “She was quite distressed,” he says. “It seemed that no one was listening to her.”
Mom and doctor agreed on an upper-GI endoscopy and a colonoscopy for each boy. In this way, Dr. Persad might be able to literally see the root of their GI issues. The scoping procedure showed minor inflammation and ulcerations, but a diagnosis remained elusive.
Dr. Persad agreed with Oakes-Henschel that a capsule endoscopy might prove helpful. The procedure involves swallowing a pill-shaped camera that snaps pictures as it travels the length of the digestive tract. It would capture images of the small intestine, which can’t be reached with conventional scopes.
Dr. Persad referred Oakes-Henschel to one of the few Alberta physicians who could administer the test. Afterwards, the specialist refused to discuss the results with her. “He just said everything is normal, and that was it,” she recalls. “It was brutal.”
Frustrated and desperate, Oakes-Henschel took the boys to see Arthur Krigsman, M.D., a U.S. pediatric gastroenterologist who specializes in autism-GI issues, to repeat the procedure – this time with both boys. This meant paying, out of pocket, for both the capsule endoscopies and flights to Dr. Krigsman’s offices in New York City and Austin, Texas.
After the capsule endoscopy, Dr. Krigsman reported that Aidan’s intestines were inflamed. He diagnosed collagenous colitis, an inflammatory bowel disease seldom seen in patients younger than 60 years of age.
Connor’s procedure likewise revealed inflammatory bowel disease, along with severe ulcerations in his small intestine and Crohn’s disease-like ulcers in his bowels.
After hearing the results of the capsule endoscopy, Dr. Persad felt comfortable prescribing the kinds of powerful anti-inflammatory medications used to treat these serious – even life-threatening – conditions.
In addition, Oakes-Henschel put the entire family on a gluten-free, casein-free diet. In the weeks that followed, Connor used the toilet on his own without his mother’s assistance or a diaper for the first time.
Both boys seemed to emerge from “that blank autism stare,” Oakes-Henschel recalls. At age 3½, Aidan started to make “ma-ma” and “da-da” sounds.
Oakes-Henschel says she felt like she was meeting her children for the first time. “They weren’t miserable. We could engage them in therapies, and they were present in the moment,” she says. “They even played with us and smiled.”
Getting involved in the ATN
Dr. Persad’s growing interest in the GI manifestations of autism led him to attend a symposium on ASD. At Oakes-Henschels urging, he also reviewed a documentary that discussed key issues related to autism and the GI tract.
In 2010, Dr. Persad joined the team of autism specialists working at Autism Speaks Autism Treatment Network (ATN) clinic in Edmonton, Alberta. Affiliated with the University of Alberta, the Alberta Health Services/Glenrose Rehabilitation Hospital provides multidisciplinary care for a full range of medical conditions associated with autism. It is one of 17 sites in the ATN’s North American network.
“While not every child’s medical conditions are this severe, every child’s medical issues deserve to be taken seriously,” says Clara Lajonchere, Ph.D., vice president of clinical programs for Autism Speaks. “Ms. Oakes-Henschel's experience highlights the importance of raising awareness among community providers and subspecialists about the co-occurrence of these medical issues in children with autism. These issues must be identified and treated just as they would for typically developing children.”
“The ATN is a consortium of medical centers dedicated to providing a 'whole person' approach to care for children and adolescents with autism,” says ATN director Nancy Jones, Ph.D. “Dr. Persad’s willingness to listen and then partner with the family made it possible for them to find the best solutions for Connor and Aidan.”
“The ATN centers provide a ‘nexus of care’ for families by bringing together experts who understand and specialize in treating children with autism,” Dr. Jones says. “Each center strives to provide families with a welcoming environment focused on their well-being.”
Collectively, the ATN is focused on developing a standard approach to care that can transform lives, Dr. Jones adds. “Ultimately, we want to develop models of care that can be adopted widely by medical centers within and outside the ATN network. Much of this work focuses on developing and improving evidence-based diagnostic and treatment methods.”
In recent years these efforts received a substantial boost from the Health Resources and Services Administration (HRSA), which designated the ATN to serve as the Autism Intervention Research Network on Physical Health (AIR-P).
Funded by the Maternal and Child Health Bureau of HRSA, the AIR-P supports clinical research and initiatives that can lead to innovative and practical treatments for ASD and associated physical health issues. ATN/AIR-P research projects include studies for sleep disorders, metabolic disorders and epilepsy. Yet another project is assessing emergency room procedures with the aim of easing stress and improving care of children and adolescents with autism.
The ATN/AIR-P initiative also carries out educational activities designed to raise understanding of autism-related medical issues among health professionals and families. These efforts include a series of practical tool kits that can be freely downloaded from the Autism Speaks website. (Click here.)
Applying the results
Oakes-Henschel says she’s won her personal battle. Her boys are receiving the treatment they need. However, she wants to spare other families the stress and trauma of her difficult journey. It cost more than $90, 000 – and perhaps her marriage. “It was the stress of all of it,” she says of her recent divorce.
Still, she says she’s tremendously encouraged by the progress she’s seen over recent years. “I’ve seen how much the science — the GI studies, the environmental impact studies, the immune system stuff — is really helping families now,” she says. “They don’t have to fight like I had to do.”
On October 6, Aidan and Connor will celebrate their 10th birthday. They’re doing better than ever, their mom reports, but still have GI difficulties and suffer from autism-related anxiety and OCD.
At the same time, they’ve “mainstreamed” into their fifth grade class, with the help of full-time classroom aides. Aidan recently discovered the computer keyboard as an exciting new avenue for communication. Connor has grown to love exploring new places – and often accompanies his mom to Autism Speaks Walks and fundraisers.
“My boys, they’re such different kids now,” Oakes-Henschel says. “There’s been such a turnaround in their ability to learn and grow since they’re healthier and not in pain all the time.”
Oh, and one other thing: This past February, Oakes-Henschel joined Autism Speaks as events manager for the province of Alberta – this after five years as a dedicated volunteer. “Autism Speaks is literally bringing my passion and desire to help families just like mine to fruition,” she says. “It’s a dream come true.”
An Autism Speaks video team caught up with Marcy Oakes-Henschel at this year’s International Meeting for Autism Research (IMFAR), in Toronto. We think you’ll enjoy what she has to say …
Editor’s note: U.S. News & World Report recently featured Autism Speaks Autism Treatment Network (ATN) in its Best Hospitals 2013 edition. Read why here. We also invite you to explore more about the ATN on our website here. You may also enjoy these recent feature profiles of families and scientists advancing autism research: “Launching a Career in Autism Research,” “Sina’s Last Gift” and “Hunting for Autism’s Earliest Clues.”