Category Archives: Research

Developmentally Disabled – label or hype? I say …

Chart showing the increase in autism diagnosis...

Image via Wikipedia

Survey Says

When researchers report new growth in the numbers of kids with special needs, it creates a stir. I get that, I do.

Those who don’t have a kid with that label don’t generally understand the months and years behind trying to find a diagnosis, trying to get your child to catch up their peers, or even just trying to complete therapy. Instead, they see the rising numbers and say parents are looking for excuses, professionals don’t want to do their jobs, or the world is just too label crazy.

I say … they’re missing the point.

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Filed under Advocacy, Autism, Education, Parenting, Research, Special Needs, venting

Rieger Syndrome – Neat Resource for Parents and Researchers

I don’t often find a new resource worth getting this excited over.

Though I am waiting for a response back from the folks at this site, I would like to encourage anyone looking for a snapshot search of the information available on their diagnosis to check out WrongDiagnosis.com – Here’s why:

Rieger Syndrome @ Wrong Diagnosis

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Filed under Parenting, Rare Diseases, Research, Special Needs, The Rarelink

Survey says – Blame the Kid (huh?)

Who’s the adult again?

I read a recent post on Disability Scoop  that talked about a new study. You know me and research – my geekiness knows no bounds.

This study looked at what general education teachers think about educating kids with autism. I had to reread the story at first, shaking my head as I did so.

The nutshell: teachers in this small pilot study said they were supportive of bringing kids with autism into their general education classroom. BUT, they don’t think the kids with autism are ready to join them.

The presenter, David Mendell from the University of Pennyslvania, introduced the study at last week’s International Meeting for Autism Research (San Diego).

“Teachers are putting the burden for inclusion on the child rather than thinking about the adaptations that might be necessary in the classroom for that child to be fully included,” Mandell said. “We’re going to have to do some values clarification with teachers.”

Let’s see. The onus is on the kids, who already have developmental disabilities, to do the legwork so that the teachers feel comfortable in having them in their classroom? Or the goal is that the professional might, I don’t know, do their job?

Again, I find myself in awe at study findings, which would, supposedly, represent the views of general education overall.

Is this really the case?

You tell me.

I’ve heard both inspiring reports from teachers in general education classrooms, and I’ve heard horror stories of unnecessary restraint, seclusion, bullying, and harassment.

I find the disparity seems to be in educating the general education teachers about the supports they can and should include, and educating the district as a whole as well.

It makes me wonder, though

My guys have all flourished in self-contained settings. I know, that simple statement seals my removal from the special needs mommy club in some circles. But for my kids, I think it has been the very best I could do for them.

See my recent post about Andy, for example.

Andy (and Bobby)

Andy

Andy’s anxiety would preclude him being able to comfortably work on academic goals if he was also struggling with the anxiety that comes from social pressure and interaction. His placement is in a classroom setting, but he goes to the regular education options for art and music, and he’s involved in many other activities, in a controlled and comfortable way. I don’t think he would have had the same success in a general education setting. We’ll slowly start mainstreaming him into other classes at he enters the middle school; again, in a controlled way to try and protect him.

Bobby

Bobby Up-close

My oldest, Bobby, has pretty severe vision impairments and is moderately autistic, not to mention anxiety triggers his epilepsy. You tell me, is it safe to expect a child who doesn’t easily see his peers, can’t talk with them about any age-appropriate academic issues, and has seizures when he becomes anxious–is it fair to expect him to fit in with a general education classroom? We don’t think so.

Think beyond Bobby’s needs (and he’s flourished in this environment) to the other kids in the general education setting – should their instruction be interrupted because Bobby can’t attend to classroom activities in the academic setting? Bobby interacts with his typically developing peers often, and has been known to give a high five to a kid here or there in the halls. His teacher is one of the football coaches, and he encourages social interaction between Bobby and his classmates and the rest of the school, much less the rest of his typically developing peers.

Logan and his string

Logan

Logan is not close to his typically developing peers socially, emotionally, or academically. He can barely sit for short periods of time for targeted instruction, and even then needs constant redirection and support. He has seizures, during which he stops breathing, when his threshold is low, when he’s significantly stressed, or just because it’s his lucky day.

Is it fair to expect him to conform to the classroom expectations in a general education classroom? Really? I don’t see how that’s fair to Logan or his peers with no disabilities. Logan still has the opportunity to interact with other kids at school, every day, in a controlled way and with all of the supports he needs in place.

There’s inclusion in a meaningful way, and then there’s inclusion for the sake of inclusion. It’s an important distinction. I haven’t seen a better option in our case. Do those options exist, I’m sure they do. But not right around here, and not in a way that I don’t feel will endanger my kids’ health, education, and further development.

Study and original News Story found via Study: Educators Support Inclusion But Find Students Ill-Prepared – Disability Scoop.

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Research: Rare Disease Breakthrough and the Hope it Means

It’s not often I can talk about the rare disease my family shares and relate it to some real news in the research front.

Just two kids among many.

My guys hit Disney's Magic Kingdom ready to see it all. Here, Andy and Bobby pose in front of the Castle at Magic Kingdom.

I have included pictures of my guys before, and I will do so again, because you should know that when it comes to rare disorders, I kind of know a bit about it all. It was about 12 years ago we learned that our then baby boy had a rare disease called Rieger Syndrome.

Over the years I connected with other families, all over the world, to learn more about this syndrome and the other related diagnoses my guys all eventually shared.

We struggled in the same way millions of families have to help Bobby make the most of his vision loss (today his functional vision is considered exceptional) and I connected with yet more families.   We faced the fears of new parents worldwide as first one, then another, and then another were all diagnosed with not only Rieger Syndrome, but also autism and epilepsy.

Just when I realized my youngest child would join the genetic lottery that is our family, we added more to his small plate, as a preemie with a brain bleed, Cerebral Palsy, Apraxia, and seizures more severe than those we’d seen previously.  When I looked to the experts, I wasn’t looking at the specialists we trusted sometimes daily with our brood. No, I looked to the experts who became experts by default, not by choice.  I looked to other parents.

We’ve earned our stripes, this motley Moody crew of ours.  So when I see research that unequivocally points to progress in the race to understand the genetic code, I feel like something important has been accomplished.

For those who don’t understand the importance of the link that follows, consider this analogy:

Once upon a time, only the strong survived. Those who were hurt, those who were formed differently, were sent away to die, or killed at birth or upon injury. And then we learned how to treat the sick, mend the broken. And across the centuries, many were saved.

Once upon a time, we thought that many diseases could not be treated. We sent those diagnosed with them away to suffer and die, in silence. And then we learned about vaccinations. And many were saved.

Once upon a time, we thought that every child born with this condition or that one would die within months and we warned the parents, prepared them to say goodbye too soon. And they developed new treatments. With a single shot, many were saved.

Today, more than 30 million Americans (1), young and old, are living with a rare disorder diagnosis. The vast majority are non-fatal. Some day in the future, that number might rise, but with research, and information, and hope, many will be saved.

My family, and the millions across the globe, can be excited about research that finds connections and holds new promise, because it means a better future for those we love and millions more to come.  We aren’t looking to change those we love, to take away this vital part of their identity, for uniqueness is valuable.  We, instead, are hoping to shift some of the burden of pain and difference so that ours and so many other children can be unique because of who they are, not the disease they were born with.

Source

1.) NORD. (2011). What is NORD? Welcome to NORD — National Organization for Rare Disorders. Retrieved May 17, 2011, from http://www.rarediseases.org.

The link will take you to a press release, which does a credible job of explaining the significance of these genetic findings. I would love to know what you think, about my words or theirs. How have you been impacted by a rare disorder?


Researchers looking at a rare disease make breakthrough that could benefit everyone.

MONTREAL, March 1, 2011 – By working with Canadians of French ancestry who suffer a rare genetic disease, researchers have discovered how three genes contribute to abnormal growth, making a breakthrough that will improve our understanding of many disorders such as foetal and childhood growth retardation, abnormal development of body parts and cancer. “As a result of the Human Genome Project, we know the basic identity of essentially all the genes in the human body, but we don’t automatically know what they do in detail,” explained lead researcher Dr. Mark Samuels of the University of Montreal‘s Department of Medicine and the Sainte-Justine University Hospital Research Centre. “It’s like opening your car and seeing the parts, but not knowing what each one does. When a part breaks however, you learn how it fits with the rest of the machine. Working with people who have specific health or development problems linked to specific genes enables us to see how those genes contribute to our bodies’ development and functioning.”

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Ya’ Think? ‘Child With Autism May Affect Family Income’

Child With Autism May Affect Family Income.

This is the headline from many different sites from the past couple of days. Don’t get me wrong, I think it’s great that they are studying how poor we all are. Wait. That sounded bad. But really, was there really any doubt?

The staggering effects of having one child with autism go far beyond finances and stress-loads. It’s a socio-economic crisis as more and more children are being diagnosed. How many families are like ours, with two or even three children on the spectrum? Out of those diagnosed, how many are severely autistic, requiring more interventions, therapies, household costs, additional budgetary concerns, and the list goes on.

I recognize the importance of researchers needing verifiable data upon which to base further research. I do. How about we consider their statistics and compare them with the National averages? Hm. I guess that’s something I could do.

But then again, I have three little guys who are autistic. I have more important things to do than verify how dismally my income compares with National averages, much less how many of my peers are in the trenches with me — tired, poor, and maybe just a little overwhelmed.

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Hope for Logan (New Research into Non-Verbal Autism)

Non-verbal Autism Research Highlighted at IMFAR

(via Autism Speaks Official Blog)

I won’t go into the individual studies, but the IMFAR highlighted research into non-verbal autism by Autism Speaks grant recipients. The bottom line? Studies are showing that non-verbal kids are capable of understanding far more of their world than given credit for.

As the parent of a child who is non-verbal, this doesn’t tell me anything I don’t know. Yet, the implications are that the research results might lead to further study and development and possibly therapy techniques that will work with these unique kids.

That is a big thing.

And this is why …

Meet Logan

Logan playing with water

From a recent drip to Disney, Logan enjoyed a chance to play with the water, stimming on the stream of coolness as he de-stressed.

Logan, my 6-year-old little charmer, has apraxia – a neurological disorder that makes it hard to for him to associate words with actions, or to express words even when he knows what they mean. It’s more complicated than that. But, similar to his autism, I tend to consider his apraxia another lock on his brain, making it difficult if not impossible sometimes for us to communicate with him.

Signs don’t tend to work, or communication boards. It’s a tired game of intimately knowing and understanding what the few sounds he does utter mean to him, and of decoding the way he acts. He has recently just started dragging us to the desired item, or patting it. I feel this desire to communicate is something we can work with – we just haven’t unlocked the language of Logan yet.

Consistent and intensive speech therapy has helped Logan in the past, but the results themselves weren’t consistent, and we had to fight for any of the therapy to be covered. These days, I wonder if we’ll ever hear him speak beyond the approximations of our names he has gifted us with (His brothers are “dee” for Andy and “bee” for Bobby, while Daddy sometimes gets the closest approximation. I lag, I guess, because he doesn’t attempt my name often, though I still get the occasional “mee” for Mommy).

We’ve occasionally heard him say ‘ball’ and other words, but never with consistency. He used to sign “more’ and “eat” and “drink” but we have to use hand over hand guidance to get him to do so much of the time now.

When his seizure activity increases, we tend to lose ground, and sometimes we don’t gain it back. It’s a constant battle for Logan’s attention, health, and desire to communicate at all, and sometimes I wonder whether we will ever gain some type of consistent, ongoing language with him, ever. And if not, what? If we can’t get him interested and consistently using sign, and he doesn’t seem to understand pictures (he’s shown some limited success at school, but again, nothing we see consistently).

I won’t give up. We still work with him every day to make some kind, any kind, of progress. Maybe we’re looking for the clear and stated when the understated is where we can see the evidence of his understanding of the world around him. Logan understands what we say, sometimes even responds to it. He understands many things. It’s clear when he reacts specifically to something we have said.

The Importance of Due Diligence, of Research, of Hope

These things cannot be overstated. Parents like me, like my husband, we need to see that others are as desperate and eager to find answers as we are. There is hope in the act of researching, and when there is evidence that research is paying off, there is more than hope. There is this idea that we are vindicated.

All the times we said Logan was in there – we just had to find a way to reach him. We were right. Not just because we are his parents know him so well, but because there is research that is proving us right. No, we don’t need this research to tell ourselves to keep trying. But we can point to it when others don’t want to.

♥Kat

What does research like this tell you? Does it give you a new feeling of hope or does it even register in your world of parenting a special child?

Non-verbal Autism Research Highlighted at IMFAR By Leanne Chukoskie, Autism Speaks In 2008, Autism Speaks kick-started research in the area of non-verbal autism through its High-Risk High-Impact initiative. This year at IMFAR, Autism Speaks-funded research was featured in the Invited Educational Symposium titled Characterizing Cognition in Non-verbal Individuals with Autism: Innovation, Assessment and Treatment. Geraldine Dawson, Ph.D., Autism Speaks’ Chief Science Officer, chaired the session … Read More

via Autism Speaks Official Blog

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