A year ago, an Australian study was published in the journal Molecular Psychology claiming that a test could spot patterns of genetic variation that differed between people with autism and ones without; it supposedly predicted autism with 72 percent accuracy. Now a new study from Massachusetts General Hospital finds that the patterns did not accurately point to Autism Spectrum Disorder; one issue is that the original research was based on populations with different ethnic compositions, which could have reflected random ancestral differences rather than meaningful ones.
The study raised concerns about autism as something that needs to be fixed or cured. Other parents have felt the same way when the news came out about scientists turning off the extra copy of the chromosome behind Down syndrome. As the parent of a child with cerebral palsy, I ache for more research on treatments that will help alleviate the symptoms of CP, and improve his quality of life.
In fact, word also just came out about a new web-based tool that will help experts provide behavioral intervention for kids with autism. The Center for Autism and Related Disorders reported in the journal Research in Autism Spectrum Disorders that the tool gives information that helps clinicians create better intervention plans, important for reducing challenging behaviors.
It can be hard to hear about science that aims to eradicate the conditions our children have. I love my son as is; he is not defective in my eyes. He has his challenges, but they do not define him. Of course, I want to do whatever I can to help and enable him. My greatest hope is that science continues to advance treatments for people with cognitive and physical disabilities, giving our kids the best possible lives.
One third of parents and other caregivers of kids with special needs polled say their church does not have a Sunday school program for their children. While it is heartening that 60 percent of the 1000 practicing Christians recently surveyed by Barna Groupdid report that their church offered special needs programming, there is still a large chunk of special needs families getting left out of religious activity. In fact, statisticians say that an estimated 9.6 million caregivers of kids with special needs have no services to send them to. Meanwhile, 60 percent of caregivers said they rely on church to teach their children about matters of faith and religion.
This will not be news to those parents of kids with special needs who have struggled to find their place in the church or other places of worship. Our family attends a synagogue, and we had to finally leave the one we’d been at for years because there were no services for my son, Max, who has cerebral palsy. The only place for him there was the kiddie-care center; at 8 years old, my son was hanging out with toddlers. I’d approached the leaders of the congregation about possible programming for kids with special needs, one that took into account different cognitive levels and sensory needs. After being told there was no money for such a thing and that I’d basically have to spearhead the effort myself, I bailed. When I’ve written about this before, I’ve gotten flack that I didn’t step up to the plate. While I would have been more than willing to be part of a committee, as a working mom with significant childcare responsibilities, I couldn’t take on the leadership role. So help me God, I wanted to; I just wasn’t physically able to.
I’ve heard from many other parents of kids with other special needs—including autism and Down syndrome—that their children also lack access to religious services. While statistics show that church, synagogue and mosque attendance has remained steady in this country—at one point even inching up, per a Gallup poll—this is hardly a matter of filling up pews. Children with special needs have a right to religion as much as any other person. And truly: Is there anything more holy than helping those in need access religion? Aren’t places of worship the one place on the planet where inclusion should be a given?
As can often be the case with special needs initiatives, it may take parents to get the ball rolling. (That is, assuming their place of worship is open to that.) In our case, we ended up finding a smaller temple that was inclusive, one where the leaders were willing to work with me on finding ways to make my son more comfortable. So far, so good.
There’s also hope. As the Reverend Bill Gaventa, editor of the Journal of Religion, Disability and Health, told me, “There are still far too many congregations unsure of what to do or not willing but also, gratefully, a growing explosion of places and resources that are getting really serious about inclusive ministries and faith supports.”
What’s been your experience with your place of worship and your child with special needs?
Meet Sam Berns, the subject of the powerful new documentary Life According to Sam. Sam is into the Dave Matthews Band, like his dad. He’s a master Lego builder. He enjoys sleepovers with friends. He also happens to have Progeria, an extremely rare disease. The name is of Greek origin, and means “prematurely old.” It’s caused by a mutation in a gene; signs include loss of body fat and hair, aged-looking skin and stiffness of joints. An estimated 200 to 250 kids in the world have it, just 1 in 4 million.
Sam’s parents, both doctors, got the diagnosis when Sam was 2. They refused to accept that their son would die by 13, the average life span for a child with Progeria (typically, they have strokes or heart attacks). So they started the Progeria Research Foundation and set out to test the first experimental drug for the disease, enrolling 28 children from 16 countries in the first trial. As the mom of a child with special needs, I related to Sam’s parents’ determination to do whatever is within their powers for their son—although these parents, it must be said, have superpowers. I was charmed by Sam, a really bright, charismatic kid who turns 17 this Wednesday.
The film premieres tonight, Monday, October 21, at 9 pm EDT/8 pm CT on HBO and across the HBO platform of channels throughout the month. Starting October 21, it will be on OnDemand and HBOGo.
I reached out to Sam to ask a few questions, and he had some awesome answers.
Sometimes, people don’t understand that you can have Progeria or another disease or condition—but it doesn’t have you. Would you please explain why Progeria isn’t, as you said in the film, a “major” part of your life?
Progeria is something that I’ve had throughout my entire life, so it’s not something new….it’s always been there. What I do is I surround myself with the people and the things that I love and I just live my life. And when there is an obstacle or challenge as a result of Progeria, I focus on taking on that challenge and moving past it.
You also said in the film that you do not want people to feel bad for you. This is something that can be hard for people to understand, as I know from raising my son, Max. Would you elaborate on why people shouldn’t feel bad for you, or other teens like you?
Well, I think that people should not feel badly for me because I don’t waste time feeling badly for myself. I actually live my life and focus on the things and people that I love. In the occasional serious situations that may be created by Progeria, I focus on moving past them. Bottom line, I don’t waste time feeling badly for myself. I live my life.
Kids who have special needs may get bullied by other kids at school. You seem to have an awesome group of friends. Based on your own experiences, what is your advice to kids with special needs so they don’t get bullied?
I can’t say what other kids situations are like exactly who have special needs of their own. I feel very fortunate that I live in a town of people who support each other. It has helped that I have grown up with many of my friends, knowing them from a very early age (even preschool). They have gotten to know me as a person—on the inside—so they think of me as Sam, me. And they think of Progeria as one of many of the characteristics that makes me who I am, as I do for anyone else who may be different, in any regard. If anyone bullies another person because they are different, that person is not a person of high quality, and he or she doesn’t deserve your time.
Sometimes, when people meet Max, they act awkward and don’t know what to say. If you have ever experienced this, how have you dealt with it?
I have experienced this on occasion and it is to be expected. I just try to be an open book, show people who I am on the inside, so they get to know my personality first. So, my genetic disease is then somewhat of an afterthought, not something that supersedes my personality. I try to make my personality my defining quality.
You said in the film you’d like to be a geneticist. What exactly would you like to study, as a geneticist?
Well, I do want to work in genetics but I’m also interested in cell biology and biochemistry. I would like to try to advance research in many fields of disease. I just want to help people, whether through genetic disease or other diseases. I’d like to solve the problems that people have been trying to solve for a very long time—that greatly affect the people who have them.
Have you ever thought there is a reason that you were born to your parents—as it was meant to be that they would be doctors, and ultra-determined ones at that?
I haven’t really thought along those lines. I think no matter which parents have a child with Progeria, that they will do anything they can to find a cure. And my parents are doing everything they can with the skills that they have. Any parent could do what my parents are doing—whatever the child’s condition is—because they love their child.
You can make a donation to the Progeria Research Foundation here (through October 23, your gift will be matched dollar for dollar thanks to the Matching Gift Challenge from a generous donor).
This guest post is from Patricia A. Prelock, PhD, CCC-SLP, a speech pathologist who is the 2013 President of the American Speech-Language-Hearing Association (ASHA). She is also dean of the College of Nursing and Health Sciences, a professor of communication sciences and disorders and a professor of pediatrics at the College of Medicine at the University of Vermont. In other words, she really knows her stuff.
Knowing what is “typical” versus problematic when it comes to communication can be difficult for parents, especially when it’s a first child. Sometimes, well-intentioned friends, grandparents and even pediatricians may advise concerned parents not to worry—saying, for instance, that a child will speak when he or she “is ready.” Although they may be right, taking a wait-and-see approach is risky. If an issue does exist, parents may miss a critical treatment window. In their first years, children form foundational communication skills for a lifetime. During this period, children generally respond extremely well to treatment. And there’s a lot more to it than when a child says his or her first word.
Having spent many years as a speech-language pathologist, I know firsthand that treatment is much more successful when it begins before age 3—and key early indicators are frequently overlooked. Below are five that parents often miss. If a child is exhibiting any of these signs, a parent should consult the child’s pediatrician. Parents may also want to look into Early Intervention programs in their state, or seek an assessment with a certified speech-language pathologist or audiologist (find a searchable list of professionals here).
1. A child isn’t making eye contact or smiling.
Much of early speech and language development is actually non-verbal. One of the first ways an infant communicates with a parent is through eye contact. As early as at 6 to 8 weeks, a tot should be able to hold a gaze—particularly with a parent or other caregiver. Around that age, a child should also have a social smile in response to a parent or loved one.
2. A child isn’t using gestures.
Also in the category of non-verbal communication, an infant should begin using gestures by the time he or she is between 6 to 12 months. These include clapping, pointing and waving.
3. A child isn’t cooing or babbling.
Well before the long-anticipated first word is spoken, a child should be verbalizing in sounds. Cooing typically occurs by the time a child is 2 to 4 months old, and babbling by 6 months. I have heard parents say, “He was such a good baby, he was so quiet.” That is a red flag for me. By age 1, a child generally should say 1 or 2 words. By age 2, a child should be stringing 2 or more words together.
4. A child is not understood by others.
Parents are wonderfully attuned to their children’s needs. They can sense subtle differences in their cries of needing to be changed, or being hungry, tired or in pain. As the months progress, parents get even better at deciphering what their child wants. But even if they understand a child’s sounds or words, they should pay close attention to whether other people can understand what their child says. If others cannot understand a child by 18 months to 2 years, this is an indicator of a potential speech or language issue.
5. A child is not responding to his own name.
This can be a sign of hearing impairment. Parents may not realize the need for vigilance about hearing because most newborns undergo hearing screening before leaving the hospital. However, hearing problems can emerge weeks or months following birth. Ear infections can also lead to hearing problems. Hearing issues may not be obvious, especially given that a child with a hearing impairment will make similar sounds (including cries) to a non- hearing-impaired child through 9 months. If a child is not responding to his or her own name by 7 months to a year, a problem may exist.
For more information on learning the signs of communications disorders, visit ASHA’s recently launched Identify The Signs campaign.
Look closely at this photo of the 2014 graduates of Nederland High School in Texas. Can you tell what’s wrong? Hint: See the teen on the right, in the wheelchair. His name is Brannon, and he is completely isolated from his classmates sitting on the bleachers. “Can anyone guess what I would be upset about?” wrote Brannon’s mom, Pam Hendrix McWilliams, on her Facebook page. “Could it be that my son is way off to the side, trying to lean in to be part of the group?….Was my son just an afterthought in the pic?” She posted the photo, she said, “mainly as a teaching lesson to consider the person that is a wheelchair user and don’t push them off to the side. Get creative and include.”
Brannon his spina bifida. It’s actually Spina Bifida Awareness Month, ironically enough. If this story rings a bell, that’s because a similar one made news last spring when a class photo with second grader Miles Ambridge, who has spinal muscular atrophy, made the social media rounds. All of his classmates were seated on a bench or standing behind it; Miles was a good foot to the left of the bench, alone in his wheelchair and leaning as far as he could toward his classmates. It was heartbreaking (his parents never showed him the photo), and the reaction online prompted Lifetouch Photography to do a retake. That child’s mom also blamed lack of awareness.
Brannon, wrote his sister Kammie on Facebook, “was SO excited to take this picture. Please help us stand up for him!” His mom added, “This draws the line. I feel like Brannon has been discounted as a Senior of 2014 as well as a human being. Brannon would never say anything because he is the ultimate peacemaker, but I sure will…. My heart breaks every time I look at it.
Photos like this are a reminder of just how a little—we’re talking speck size—common sense and consideration can help kids and teens with special needs be included, whether in a group photo, group activity or group whatever. It doesn’t take much; people just have to start thinking about it—and seeing the possibilities.
To anyone who says this is just a photo, a panoramic shot, and that this mom shouldn’t take it to heart, here’s Pam’s response: “Let’s sit your child to she side and see how it feels.”
Retaking a photo like this wouldn’t be half of as big a deal as how this teen might feel looking at this photo for the rest of his life.