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Perspectives from Individuals and Family Members
The workshop began by hearing from individuals and family members affected by disabilities and complex health and educational needs. They described their greatest challenges and how they have worked to overcome those challenges. They laid out what they thought should be done to help people with disabilities lead fulfilling and productive lives. A particular focus of their comments, as noted by panel moderator Stephen Shore, clinical assistant professor at Adelphi University, was “the importance of community—of advocates, of parents, of professionals. We all need to work together, because we can do so much more working in collaboration than any of us do alone.”
CARING FOR A CHILD WITH SPECIAL NEEDS
Jackson was born a few weeks early but was pronounced a perfectly healthy and normal baby boy. As his mother, J-Jaye Hurley, said at the workshop:
He was happy, typically developing, meeting milestones, saying “Hi da-da.” At age 19 months, he developed a serious case of RSV [respiratory syncytial virus] and pneumonia and ended up being hospitalized for 8 days with fevers over 106 degrees. He was never the same again. He went from playing appropriately with his toy tool bench to mouthing the hammer and spinning the nails. At age 2, he was diagnosed with autism spectrum disorder [ASD]. I remember wondering what it was that we had done wrong or had missed, or why the doctors had told me he was just fine all the way up until the time that he wasn’t.
Hurley began to study Jackson’s condition on the Internet. He was enrolled in an early intervention program at an autism center, and he participated in the center’s language and learning clinic for 2 years. He relearned several words that he had lost and was making academic progress. “We were hopeful for his future,” said Hurley:
Unfortunately, at age 6, Jackson had another serious bout with pneumonia, more high fevers, more hospitalizations. After that illness, he had a second serious developmental regression, and he has never recovered any of the skills that we had spent almost 4 years learning. He has not spoken another word since the second regression.
This one hurt worse than the initial diagnosis. I didn’t know why or how this could happen. We had done the therapies they told us to do. We had enrolled him in special needs pre-K. We had spent hours at our home doing services and therapies. It was devastating.
After much more study, testing, and visits to physicians, it was determined that Jackson, in addition to autism, has mitochondrial disease, which explains his developmental regressions and autism symptoms following his illnesses. He also has complex partial epilepsy, hypogammaglobulinemia immune deficiency, and a lifelong genetic pain disorder that had him screaming in pain for 3 years until the disorder was diagnosed and medicines to treat it were begun:
He has intellectual disabilities and sensory issues. He breaks out in random mast cell activation rashes every few weeks. He has ADHD [attention deficit hyperactivity disorder], MTHFR [methylene tetrahydrofolate reductase] mutations, a blood disorder, an autonomic dysfunction. In a word, he has a lot.
Over the years, friends and strangers said, “How do you guys do it? I could never be a special needs parent.” The answer is simple. I do it because Jackson is my son. He is my child, plain and simple, just like your child is yours. I’m a special needs mom because my child is very special.
Jackson’s original diagnosis led Hurley to become involved in Autism Speaks, and in 2011, she became the organization’s southeast regional autism response team coordinator. After spending years being her own son’s advocate, she has been able to help other parents navigate the complex systems involving health care and education. The autism response team helps families connect with local resources and provides support through daily phone calls and e-mails:
I have been in this position now for 5 years next month, and I love it. I remember not knowing where to turn or who to contact when Jackson was first diagnosed. Autism Speaks family services provides help and guid-
ance for individuals with autism and their parents in accessing services, waivers, and advocacy throughout the lifespan. Our small eight-person team responded to more than 47,000 calls and e-mails in 2014 alone. That is a lot of people who need help. My job has also opened my eyes to the disparity of many families across the country who do not have the advantages of living in a metro area and are facing financial, language, or socioeconomic barriers.
Over the years, Jackson’s family faced many barriers in getting Jackson what he needs. When he was first diagnosed, his developmental pediatrician prescribed 40 hours a week of applied behavior analysis (ABA) therapy for him, but the family’s insurance did not cover the therapy and they could afford only 4 hours a week. At age 8, their insurance coverage changed and finally began to cover the treatments. He now receives 25 hours of weekly in-home therapy, though these services would have been invaluable before, said Hurley.
Hurley observed that they have tried many different treatments for Jackson over the years, but ABA therapy has been by far the most successful. Medicaid has been mandated to cover these treatments, but most states, including the state of Georgia, have yet to implement this. Yet Jackson will need these treatments for the rest of his life, Hurley noted.
A great challenge for their family has been Jackson’s safety:
Jackson is completely nonverbal, and while we work on learning safety signs through his school and home ABA programs, he is still very naïve when it comes to safety. He does not understand traffic or danger or strangers. He is attracted to ponds and pools. He cannot answer you when you call his name. He likes to disrobe and take off all his clothes, including his coats and shoes. As parents, our main job is to keep our child safe, so this presents in the form of 24/7 monitoring and stress for my husband and me. We have a nightly lock-down system of our house, multiple cameras, door and window alarms. We constantly have to say, “Okay, he’s going upstairs, do you have an eye on him?” or “Honey, I need to take a shower, your turn, you have eyes on him.” The stress this causes is something most people cannot understand unless you have a child who elopes, but it’s not just Jackson. There are thousands of families just like mine.
Autism Speaks has partnered with the National Center for Missing and Exploited Children to provide grants for swimming safety lessons and fencing for Jackson. He needs Project Lifesaver, which is a nonprofit organization that works on tracking technology for the search and rescue of individuals with cognitive disorders, to come to the Hurley’s county, but funds are not available for that, his mother said. Parents often call Autism Speaks because school districts are not taking seriously their concerns of elopement (wandering or running from supervision). Communities need to
focus their efforts on providing safety training, funding for GPS devices, and insurance coverage for these devices, said Hurley, since wandering is now a medical diagnosis:
Jackson has gotten out of our house several times over the years. He walked out of our garage 2 years ago. He was missing for almost 30 minutes. We had to call 9-1-1. He was found naked in a neighbor’s backyard. It was the longest 30 minutes of my life, and it was all because we forgot to hit the garage button once.
Access to quality health care has been another challenge for the Hurleys. They live in a metro area, but finding medical providers who are trained to understand and support individuals with autism and their families has been difficult. They have heard such comments from medical professionals as, “He can’t talk, really? Like at all?” or “This boy has ants in his pants. Can you please tell him just to sit still for me just for 5 minutes?”
My biggest pet peeve is when doctors don’t talk to my son but they talk over him, like he’s not in the room. Our medical professionals are only as good as their training, so I feel it is vital that all staff in medical offices and hospitals be given proper training annually.
On the flip side of this, we have encountered great service providers. One time Jackson was having a very hard time and was hiding under the table, and his neurologist got down and examined him on the floor in the corner of the room because he didn’t want to upset him any further. Many parents that I talk to at work have had positives and negatives, but it seems we hear more about the negatives, so hopefully any discussion going forward about these will support training for all medical staff.
Autism Speaks often gets calls from families who say that they are unable to get treatments covered, or that because of an age cap, the treatments have stopped. In part because of Autism Speaks’ advocacy on the issue, more states and companies are covering medically necessary treatments for autism, Hurley noted.
The Hurleys have had positive experiences in their public schools. Jackson has been in a self-contained autism classroom since the age of 3. His teachers work on life skills and make community trips; his school nurse has received training for mitochondrial disease; and his speech therapist started a buddies group just for Jackson. Many families that call the autism response team are not as fortunate, said Hurley, and Autism Speaks provides special education advocacy resources every day, especially for those in rural communities or who have language barriers. Most families want to work within their school districts to receive the services that their child is entitled to under section 504 of the Rehabilitation Act (which requires school districts to provide a “free appropriate public education”) and the
Individuals with Disabilities Act (IDEA). As with medical staff, training is essential for educators to help their special students achieve success, said Hurley.
Hurley receives lots of help from her friends. One morning she met at a local restaurant with other parents who were dealing with similar issues. As she recounted, “I went home and told my husband, ‘I’ve found my people. They get it. I didn’t have to explain, there was no judgment. It was wonderful.’ When families call the autism response team, I always encourage our new families, ‘Try to find some other family or a parent in your community, whether it’s in your child’s class, or it’s through an online support group, someone to be able to share these experiences.’”
When Jackson was diagnosed in 2007, there was less awareness and acceptance for children with autism. Now that he is 10, tolerance, understanding, and acceptance have grown tremendously, said Hurley. Jackson has participated in a special needs swim team, sensory movies, and autism days at an amusement park and zoo. He was a surfer for autism and stood up on a surfboard this year. With 1 in every 68 children being diagnosed with ASD, everyone now knows someone who knows someone with autism, Hurley observed:
Jackson Hurley is the very definition of a child with complex medical and educational needs. He requires 24-hour care and supervision. He cannot be left unattended for even a few minutes. He will continue to require long-term care as he enters puberty and transitions into adulthood. My husband and I fully anticipate that our son will live with us for the remainder of our lifetime.
Jackson is the reason why all medical insurances should provide meaningful coverage throughout the lifespan of the individual with autism and other medical needs. Jackson is the reason why we need better safety and wandering resources and supports in all of our communities. Jackson is the reason that our teachers and our medical staff require better and ongoing training. Jackson is the reason why our community will become more tolerant and accepting. He will continue to make his slow and steady progress. He is now finally communicating via his talker, an aug comm device, that our insurance and Medicaid provided for him. In fact, just this year he has learned to type his initials on his talker, he uses it to answer yes and no, and he can tell us when he needs to use the restroom. He also can tell us if he is upset, sleepy, or wants to go for a ride. These are big things, huge. He is trying to find his voice again.
I will always believe in my son and his ability to learn and grow. He makes me laugh. He loves to be tickled by his little sister. He is a terrific swimmer who loves to go on boat rides and jump on trampolines. He has noise sensitivity and wears noise-canceling headphones most of the time, yet he loves to turn up his beloved Elmo’s World full blast on his iPad.
When he was born, I thought Jackson was going to change the world. I believe he still is. He has changed me. Because of him, I will fight and learn and advocate for Jackson and for the millions of families just like mine, because he is very, very special and I am his special needs mom.
GROWING UP WITH COMPLEX HEALTH NEEDS
Jill Plevinsky, founding chair of the Patient Advisory Council for ImproveCareNow, was diagnosed with Crohn’s disease about 20 years ago, when she was 7 years old. Crohn’s disease is a chronic autoimmune condition that can cause inflammation anywhere along the digestive tract, resulting in abdominal pain, fatigue, fever, diarrhea, growth delay, and weight loss. As Plevinsky noted, inflammatory bowel disease (IBD), including Crohn’s disease and ulcerative colitis, can be particularly severe when diagnosed in childhood. Treatments can include a combination of routine endoscopic procedures, immunosuppressive medications, surgical procedures, and lifestyle modifications. She explained:
When I was diagnosed with IBD, I was pretty lucky. My pediatrician had specialized in gastroenterology in his fellowship [and] recognized that my symptoms warranted a colonoscopy pretty much immediately. I was quickly referred to Children’s Hospital of Philadelphia. I was lucky to live in a suburban area at that point, but not all patients are as lucky as I was. It often takes years of misdiagnosis of things like functional abdominal pain, food allergies, eating disorders, growth delay, or stomach infections before a proper diagnosis is reached and treatment can begin. This is where awareness becomes key.
As I went through elementary school and middle school, my disease course waxed and waned, as it goes through periods of remission and flare-ups. As my disease got worse, my medication regimen became more complicated. I began to suffer more side effects from steroids and more frequent infections from those immunosuppressive drugs prescribed with, of course, the best of intentions to control my symptoms. I was pretty sick. But I didn’t want to be treated that way. Most importantly, I wanted to keep up with my school work. . . .
At the time, my mom worked in special education and was very aware of how I could access accommodations through the medical 504 plan. [She advocated] on my part for a plan that would allow me to freely use the bathroom, have extra time on tests, and extended time on other assignments. This plan was very useful for me when a complicated surgery the summer before my freshman year kept me out of school for 2 months and in the hospital. My teachers came to the house, under my 504 plan, to make sure that I didn’t fall behind.
Throughout her childhood and adolescence, Plevinsky said her parents encouraged her to become involved with activities through the Crohn’s and Colitis Foundation of America (CCFA), which is the largest nonprofit organization supporting research, education, and social supports for people with IBD in the United States. She has attended Camp Oasis, a week-long camp for children with IBD, which became the inspiration for her master’s thesis (Plevinsky and Greenley, 2014). She has participated in education events and fundraising walks. She benefited from the social support of other children with IBD, while her parents benefited from meeting the parents of other children with IBD, she said.
In college, Plevinsky served as founding chair of the CCFA’s National Council of College Leaders, which brought together college students with IBD from across the United States to cover the gap in services for those 18 to 22 years old. She said that having a community of peers who were going through similar experiences was extremely helpful:
As my involvement with CCFA increased, so did my social network of patients with IBD. I realized that there were so many stories—this disease is not the same in any two people, and every case is so unique. What struck me the most was how we all benefited from connecting with one another and sharing those stories. Because of my obvious millennial status, we use a lot of Facebook and Twitter to stay in touch.
Toward the end of her undergraduate training, she was contacted by a pediatric psychologist she had known through the CCFA about joining a collaborative called the Collaborative Chronic Care Network. The idea behind the network was to improve chronic illness care systematically using quality improvement science, with IBD care as a test case. At the first design meeting she attended in 2009, she was surrounded by parents, nurses, Web designers, testing experts, and people from many other fields, all of whom listened to each other and formed a true collaborative. What became the organization ImproveCareNow has grown to encompass 83 participating care centers, 730 physicians, and 25,000 patients, which encompasses 40 percent of all pediatric patients with IBD. The collaboration has helped improve remission rates over time through better treatments, greater awareness, and institutional buy-in. It has recently prioritized the psychosocial aspects of IBD, including medication adherence, transition readiness, and psychosocial functioning. Yet Plevinsky noted:
My own personal transition to adult care was not smooth. It took about three tries to get to the right physician, which is pretty common. We did a study of young adults with IBD, . . . and it’s rare that they stick with the first doctor they see. There’s a lot of hesitation to leave their pediatric
providers, because there’s a lot of attachment that happens there. This is a pretty universal experience. . . . One of the patients I interviewed said that she was afraid of becoming just a number when switching to the adult setting, as opposed to being familiar with her pediatric institution (Plevinsky et al., 2015).
When surveyed, physicians tend to think that young adults with IBD are not prepared to be seen by an adult provider, reported Plevinsky (Hait et al., 2009). Physicians say that young adults with IBD do not have the necessary health literacy or self-management skills. “We need to do a better job there,” she said. Some pediatric hospitals have good partnerships with adult institutions, including transition clinics that allow for a smoother transition, but that is not widespread. “That’s something we could work on as well,” she noted.
Due to better technologies, education, and awareness, Crohn’s disease is being diagnosed at younger and younger ages, even in infants, said Plevinsky. However, insurance coverage and the cost of medications remain major problems for many patients with IBD. Also, many families are unaware that students with IBD have access to medical 504 plans, said Plevinsky. They are unsure how to access the services, unsure with whom to talk, and not sure what to ask, which is why awareness, education, and self-advocacy are critical.
From a systems perspective, having everyone working together and on the same page is invaluable, Plevinsky observed. “We can’t overestimate the importance of community. Whether it’s advocacy, parents, education, government, we all need to work together,” she noted. All are united by the desire to reduce suffering and increase the potential for leading fulfilling and productive lives.
At the time of the workshop, Plevinsky was in her 3rd year as a doctoral student training to become a clinical pediatric psychologist and was doing research on the readiness of adolescents and young adults with IBD who are transitioning to adult care. Items that remain of concern to her and to the IBD community are awareness, advocacy, and the issues facing adolescents and young adults with IBD, she said. She noted that, after years of lobbying, the Senate passed a resolution supporting the goals of a Crohn’s and Colitis Awareness Week, which had ended just a few days before the workshop. Greater recognition of IBD, a strong online social media presence, advocacy organizations, regular conferences, and efforts to improve care from the bottom up and the top down are all yielding progress, she concluded.
TREATING EARLY PSYCHOSIS
“Nothing focuses the mind more than having your first-born child diagnosed with paranoid schizophrenia,” said Victoria Costello, a parent advocate and science journalist with the Public Library of Science:
In the course of the following 10 years, I had a dual track. One was, of course, survival and searching for care for my son. The other was as a researcher focused on, as the subtitle of the book I eventually wrote puts it, “A Mother Uncovers the Science Behind Three Generations of Mental Illness.” My focus became currently available research and treatment, as well as what I discovered to be the greatly untraveled ground of connecting family history to current mental disorders that cross multiple generations in families.
At the age of 16, her son Alex had lost his ability to finish a sentence, get even half a night’s sleep, or face his peers at school. His father tended to classify his behavior as teenage defiance, but the family had no information with which to make decisions, according to Costello. Fortunately, the family lived in Los Angeles, and Alex was persuaded to go to the Neuropsychiatric Institute at the University of California and be diagnosed:
The words are etched in my memory forever. “He has paranoid schizophrenia. His condition is complicated by his recent use of marijuana and methamphetamine, but the underlying symptoms of paranoia and delusion are clearly present. I’d like to keep him here for a month to stabilize him with an antipsychotic medication.” Every single one of these words is terrifying to a parent.
At that time, not many psychiatrists would have given Alex that diagnosis, Costello said, partly because his symptoms did not totally fit the diagnosis. But human beings do not always tidily fit into categories, she pointed out, and without a diagnosis, parents often are left without insurance coverage and are on their own in putting together treatment plans.
In deciding what to do for her son, Costello talked with many parents and physicians, including the medical director of a clinic that treats 16- to 30-year-olds presenting with symptoms of early psychosis. He told her that the problem with the current diagnostic standard is that it waits until dysfunction has been present for 6 months before confirming schizophrenia:
The message to parents and patients is all too often, “Let’s wait this out. You’re either going to fall off a cliff or you’ll be OK, we’re not sure which.” The real question should be: How can clinicians reduce the risk of conversion while minimizing the risk and burden of any treatments?
As a leader of the early intervention movement for psychosis, Costello participated in an effort to get early psychosis included in the Fifth Edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). In the process, she often heard the objection that formalizing the condition would create a bonanza for the pharmaceutical industry and that patients would pay a high price in terms of adverse effects, costs, and stigma:
The basic view is that if we call it what it is, we risk stigmatizing patients, and therefore the better option is to not treat. [But] the real issue here is under-treatment, not over-treatment, and the stigma needs to be challenged.
Costello lauded the effects of a 1 percent tax on high-income earners in California that was targeted for a mental health services fund. Those tax dollars supported early psychosis clinics and peer support programs that would not have been funded otherwise. Though there have been efforts to raid the fund, it has been available for the past decade and has led to valuable services.
Costello also advocated against what she described as an anti-pharmaceutical attitude. Medications were the only recourse for her family, and both she and her younger son have been treated for depression.
Early psychosis is still not in DSM-5, Costello noted, and many parents are still on their own. But parents can be their children’s best advocates, because they know their children best. Parents can keep up with research. They can work to reduce the gap that exists between new findings and practice. They can share information about things that work, such as medications that some physicians may not be willing to prescribe. They can help counter common misperceptions, such as the idea that children and adolescents did not have these kinds of problems in the past:
They were there. They were the class clowns, they were the juvenile delinquents, they were the drop-outs, they were the kids who quit school at 14 or 15 because they weren’t doing well. There was no diagnosis, there was no treatment.
My final message, which I share with everyone, is that treating earlier is better than waiting too long. In the course of having my son treated—who is fine and symptom free today—early diagnosis and early treatment worked. He is always going to be an eccentric and unusual young man, but he is absolutely fine. . . . We are a typical family dealing with a set of issues that are very common.
NAVIGATING THE SPECTRUM OF AUTISM
During the discussion session, the moderator of the panel, Stephen Shore, spoke about his own experiences with autism. He was born at a time when a diagnosis of autism was “tantamount to a life sentence to an institution,” he said. But his parents accepted him for who he was while recognizing that they had a lot of work to do for him to lead a fulfilling and productive life. They advocated on his behalf, convinced the school to take him in, and implemented what today would be called an intensive home-based early intervention program emphasizing music, movement, sensory integration, narration, and imitation. “It was up to them to figure out what needed to be done,” he said. “It was almost as if they were general contractors in setting the stage for getting intervention at a time when the concept of early intervention did not even exist.”
At 18 months, he was severely affected, but by age 4, speech had begun to return, and he returned to the school that had previously recommended institutionalization. His parents began imitating him, which made him aware of them in his environment and led to a stronger relationship between them. His parents supported his interests, whether it was astronomy, earthquakes, collecting sea shells—“whatever it was, it seemed like my parents were also interested.”
He also moved along the autism spectrum over time, which is common, Shore noted. As the brain matures, as individuals become more self-aware, and as interventions have their effects, people change. For example, Shore is sensitive to overhead recessed lights, so he wears a hat with a brim to shield his eyes. People have unlimited potential no matter what their condition, he observed, “so it’s up to us to find ways to help that person find ways to access that potential.”
As Shore said, people with autism, IBD, schizophrenia, or other conditions look the same as everyone else, but there are differences in neurology and physiology that are not visible and are the source of stigma. “The more work that we can do to increase understanding and learn how to work with these conditions, the better off we’ll be,” he said.
SUPPORTING PARENTS AND OTHER FAMILY MEMBERS
A topic that was extensively discussed during the question-and-answer session was how to address the needs of parents and other family members who are caring for children with disabilities and complex health and educational needs. As Thomas Boat from the Cincinnati Children’s Hospital Medical Center pointed out, 40 percent of mothers, for the first 3 years after a child is diagnosed with cystic fibrosis, are clinically anxious or de-
pressed, along with almost 30 percent of fathers. Many parents need help to stay well themselves, he observed.
Hurley responded that health care providers need to give parents information about resources in an area, including organizations of other parents dealing with similar issues. For instance, Autism Speaks encourages doctors’ offices to have parents call the organization to get information and support. “If a doctor could say, ‘These are some local areas of support, these are programs in your area where you can get involved so you’re not so alone,’ that would be huge,” she said.
Costello noted that many parents do not diagnose their own disorders until their children’s conditions are diagnosed, and they realize that they have had the same symptoms. In the original psychiatric interview for her son, she realized that she had to do something about her own depression, but she was unable to get help from her son’s psychiatrist because she was not his patient. With mental disorders, “it’s not that hard to have a referral list ready,” she said, since mental disorders are so often a family issue rather than an individual issue.
The panelists also spoke positively about paid positions for navigators to help families work with the health care system. Many of these navigators are parents who have received training and have become part of the system, which gives them special insights into the issues families face. Navigators and other guides to the system also can help parents arrange and coordinate the multiple forms of assistance that a child might need.
