February 2006 Issue
There are no scheduled parent support group meetings at this time.
In this issue we continue the series on Down syndrome growth hormone abstracts from the journal Growth, Genetics & Hormones.
Our guest commentator is Janet Lyon, Associate Professor of English at Penn State University, E- mail: JWL12@psu.edu.
When I first started reading about the aggressive new research activism coming out of the Down syndrome community - the kind that Dr. Alberto Costa outlines in the article reprinted in this newsletter - I felt a strange mix of elation and misgiving. This new activism, emerging in the past few years, involves expansive (and, so far, highly successful) fund-raising for targeted areas of medical research. Parents and scientists are forging coalitions at major university research facilities; private and public moneys are being channeled directly into labs where genomic research has led to new studies in neurology, pharmacology, cellular biology. There are clinical drug trials, MRI studies, and intricately designed mouse models, all geared towards the exploration and amelioration of the abnormal neurotransmission associated with Down syndrome. Of course, our national organizations have always been involved in lobbying for federal and private research funds, but the appearance of these new research coalitions-with their impressive boards of directors, their stables of scientists, their ties to industry and to parallel research programs-feels like the beginning of an important new chapter in the history of Down syndrome. And it's been a long time coming. The syndrome has been medically recognized for 140 years, but it's bewildering how little modern medical science has to tell us about the actual bodies of the 350,000 American citizens who have DS. We're not talking about just basic epidemiological information here, but also basic information about physiology and function - about muscles, bones, metabolism, blood chemistry, drug risks, cardiac function.
A $15 million, 8-year research program has recently made it possible to detect DS in utero at 11 weeks, but where (many of us have undoubtedly wondered) are the comparable ex-utero studies that take seriously the health and well-being of our brothers and sisters with Trisomy-21? Surely the time has come for the kind of concentrated and targeted research spearheaded by groups like the Down Syndrome Research and Treatment Foundation (DSRTF) of Palo Alto/Stanford University, Dr Costa's cohort at the University of Denver, and similar partnerships at Duke, the University of California at Irvine, and elsewhere.
What gave me pause however was the fact that most of these research coalitions are narrowly and unabashedly focused on "understanding and improving cognition" in DS (as the DSRTF puts it). Now, I have no problem with the targeting of research, especially this advanced research that investigates the impaired signaling structure of synapses (which characterizes both DS and Alzheimer's disease). And I certainly agree with its proponents about the indisputable importance of this work, for all the obvious reasons: the mild-to-moderate cognitive impairment associated with DS seriously affects expressive and receptive communication, memory, and the capacity for abstract thought. Indeed, research advocates argue that a modest increase in cognitive ability would significantly improve the cognition-related life skills of people with DS. But–and this was the rub, for me–what they don't say explicitly is that intellectual disability is perhaps the most deeply and problematically stigmatized disability in contemporary American culture.
I should explain that while my misgivings have largely evaporated, they stemmed in part from my line of work. I'm a humanities professor and the co-director of a Disability Studies program at a large university. Disability Studies is a relatively new academic field that coordinates the study of disability from the disciplines of history, philosophy, literature, education, rehabilitation, law, medicine, and so on. It gives us the long historical view of disability, as well as the philosophical and political tools to consider how and why disabled people are valued or stigmatized by their cultures. It asks us to reflect on who "counts" as a citizen and what social assumptions underlie broad presumptuous claims like Dr. Lejeune's, about the absolute value of intellectual ability, or for that matter the absolute value of mobility or independence. When Down syndrome was first identified and named in England in 1866, it was called "mongoloid idiocy" because one of the prevailing medical experts in the field of "idiocy" (as it was then called) imagined that these physically similar patients were the victims of a mysterious form of arrested evolutionary development that left them "stuck" in the inferior "mongolian race." Soon enough, "the menace of feeblemindedness" was deemed to represent a looming threat to society at large, and with it came the science of eugenics (with especial popular force in the U. S.), proclaiming all forms of intellectual impairment to be serious obstacles to the progress and eventual perfection of the nation. Ensuing public policies were designed to take these "degenerate" cases out of the gene pool through their sterilization and strict segregation from "normal" populations. Hitler's medical team of course made its own use of this line of thinking, and the first group of "undesirables" murdered under his regime were the intellectually disabled. So you can see why I'm a little gun-shy about research that singles out mental retardation as the most serious (and, one could surmise, most undesirable) effect of DS. But you also can probably see that I'm caught in a contradiction: I would like nothing more than for my own 14-year old son to have a crack at better communication skills, better life skills, and a better grasp of abstract concepts, even as I don't want the fact that he's intellectually disabled to be seen as his dominant, tragic trait. On the one hand, if we can partially remove the source of the stigma by improving cognitive function, perhaps the stigma will vanish (though history tells me this is wishful thinking); on the other hand I want my son and individuals like him to be valued for who they are, with their amazing gifts and talents, borderline I.Q. score and all. In other words, I want the research to result in successful treatments, and I also and equally want our culture to stop stigmatizing intellectual disability.
The good news in all of this is that since the new cognition research results from partnerships between families and scientists (who are sometimes one and the same person), those fundraising families will undoubtedly hold research programs to the highest standards, and will ensure that Down syndrome research isn't opportunistically subordinated to related (and more potentially lucrative) research in Alzheimer's and cancer treatment. They'll also ensure that, as DSRTF puts it, "basic research [is] translated into effective treatments" for people with DS. As Dr. Costa insists, cognition research and advocacy efforts are not mutually exclusive: we must continue to press for inclusion and services even as we must (I would argue) vigorously support the new research initiatives. Perhaps in our own communities we will begin to take up the call to seed new research partnerships, so that eventually, across the nation, a network of families and scientists can effectively pursue the vivid future of our passionately shared interests.
This publication is for information only. Before making any financial decisions, please consult your benefits specialist, financial advisor or attorney.
Ticket to Work is an underutilized but potentially useful Social Security Administration program designed to assist people with disabilities who want to work. It allows Supplemental Security Income (SSI), Social Security Disability Insurance (SSDI), Medicaid and Medicare recipients to prepare for and begin to work without losing those benefits. For instance, if your condition only permits you to work part time or if the job you find does not offer employer sponsored group health insurance, you will not want to risk losing Medicaid. Or you may be concerned that the cost of transportation to work or the cost of the equipment you need in order to work may exceed your potential increase in income. By mitigating the risk, the Ticket encourages transition from welfare to work for people with special needs. The kinds of employment supports you can receive depend on whether you are currently receiving SSDI/Medicare or SSI/Medicaid benefits, although some supports are available in either case.
If you are currently receiving SSDI income benefits and Medicare for insurance, Ticket-to-Work employment supports allow you to test your ability to work at a self-supporting income level. In general, the test period covers up to nine years and includes full cash income benefits during the first year, a 36-month period of extended eligibility and a 5-year period during which your SSDI benefits can be restarted without re-application. In addition, you may continue your Medicare insurance overage during this time and sometimes beyond. I will discuss how these and other supports work below and in future issues.
If you currently qualify for SSI income benefits and Medicaid, Ticket-to-Work employments supports allow you to continue receiving all or part of your SSI checks wile you work as well as continue your Medicaid coverage. The Ticket allows you to exclude portions of earned income to cover special expenses and to accumulate money to further education or vocational training or purchase work-related assets. In addition, if necessary, your SSI eligibility can be reinstated without a new application. I will discus show these and other provisions work below and in future issues. I will begin with a discussion of Impairment-Related Work Expenses (IRWE), a component of the Ticket to Work that pertains to both SSDI and SSI recipients.
Impairment-Related Work Expenses (IWRE) are expenses for items and services that you need to work on account of your disability. Since you incur these costs specifically in order to work, the Social Security Administration allows you to deduct these costs before arriving at 'countable income.' Remember that your eligibility for ongoing disability income benefits depends in part on whether your countable income exceeds SGA ($830/month for 2005). IRWE lower your effective countable income. In addition, the SSA excludes IRWE from your earned income when calculating your SSI benefits.The SSA allows you to deduct IRWE when:
More than 40 years after Dr. Jérôme Lejeune discovered that people with Down syndrome have an extra chromosome in their cells, the basic mechanisms behind the intellectual and neurological disabilities associated with this genetic disorder remain unknown. As a neuroscientist, trained physician, and the parent of a 6½ years old girl with Down syndrome (Tyche), I have spent the last 5½ years of my career searching for a potential drug therapy for this genetic disorder. During these years, I have had many positive professional experiences, such as being the recipient of the NDSS Science Scholar Award, being the only person awarded with a major grant from the NIH to study exclusively potential pharmacotherapies for Down syndrome, and serving as a co-organizer of the last International Chromosome 21 Meeting. Of course, during this time, I also have had my fair share of frustration. Frustration not only with the normally slow pace of scientific progress and but also with the amazingly low amount of research support for this field.
About two months ago, under the sponsorship of the MHDSA, I presented a seminar at the Eleanor Roosevelt Institute entitled: "In Search of a Pharmacotherapy for Down Syndrome." The goals of that talk were to share with other parents some of the recent research findings from my laboratory, as well as to review some of the current ideas on the nature of Down syndrome. I also took the opportunity to voice my opinions on the origins of the disproportionally poor funding for Down syndrome research compared to other disorders that lead to intellectual disabilities. Therefore, I was pleasantly surprised to see that one of the consequences of that seminar was to fire up the interest of many of the parents not only for Down syndrome research but also for the issue of funding for Down syndrome research.
This newly found or rediscovered interest is eloquently reflected by Anne Simpson's article in the last issue of the Down's Update entitled: "Why Do We Need More Research in Down Syndrome." At the request of friends at the MHDSA, I will write about what was said in that seminar.
My view of the impact of trisomy 21 on people's cognitive abilities is essentially the same as voiced by the late Dr. Lejeune in his 1990 article ("Pathogenesis of Mental Deficiency in Trisomy 21") in the American Journal of Medical Genetics:
"[Down syndrome] is an implacable disorder depriving the children of the most precious quality afforded by our genetic patrimony, the full power of rational thinking."
The driving force for my work, and the philosophy of my laboratory, is the idea that the intellectual disabilities associated with Down syndrome may be at least partially reversible. We hypothesize that, akin to what happens in many psychiatric and neurological diseases, a significant component of the intellectual disabilities associated with Down syndrome is the result of a dysfunction in the ability of neuronal cells to communicate to each other. (Note that, as a parent, I am much less offended by the word disease than by expressions such as birth defect and chromosomal aberration, which are still very popular in many modern books of medical genetics.) That is why a large part of our current work focuses on looking for differences in the way brain cells from mouse models of Down syndrome communicate to each other as compared to cells from typical mice.
From these studies, as well as neurological studies involving persons with Down syndrome that have been carried out in my laboratory and by others, a somewhat fuzzy but promising picture is emerging. We hope to have enough data in the near future to start building a rational basis to test potential drug therapies for Down syndrome. As it has been the case for many modern therapies, any potential treatment probably will be tested first in animal models and then in persons with Down syndrome. Such development can potentially lead to a significant leap in the quality of life of individuals with Down syndrome. Of course, because of the very nature of the scientific work, there is no guarantee that any of this will ever work. What is absolutely certain, though, is that it never will if we do not keep trying!
Now, back to the issue of funding for Down syndrome research... Why is it that autism, fragile X syndrome, or even Rett syndrome (which affects less than one in 10,000 people worldwide) get so much more research support, from both private and federal sources, than Down syndrome? I think that at least part of the blame lies in the prevailing culture of the parent community. For example, even the apparently straightforward idea of comparing the intellectual disabilities associated with Down syndrome to a psychiatric or neurological disease may seem odd to many parents. After all, one of the greatest achievements of parents who raised children with Down syndrome in the 1970s and 80s was that through massive advocacy efforts, they were able to increase the level of inclusion of people with Down syndrome to unprecedented levels. In this process, much of the language originally used by the civil rights movement of the 1960s and 70s was incorporated to the discourse of various advocacy groups for people with both physical and intellectual disabilities. That is why we hear many times expressions such as "segregated or integrated schools" and so on and so forth. Whereas there is nothing wrong about borrowing from a successful model, it is also accurate that we cannot have it both ways. If we accept that the intellectual disabilities, which represent an integral part of having Down syndrome, is simply an immutable condition or just another variation of the typical human experience, this would obviate the need for research in this field. This would be especially true for research like the one that is carried out in my lab, where we have made it our primary goal to search for a drug therapy for Down syndrome.
At the present time, a much more productive attitude would be for all of us to confront the intellectual disabilities of our children as an undesirable result of brain dysfunction and to support state-of-the-art research designed to understand the basis of this dysfunction and potential ways of significantly alleviating it. As the popular say goes: "accepting that you have a problem is the first step to recovery." Please note that I am not proposing that we lower our guard in terms of advocacy efforts, because such efforts are still very much needed. Neither I am saying that we should not be embracing and loving our children and striving to help them achieve their full potential with existing resources. But I think it would be very presumptuous of us parents of children with Down syndrome to assume that somehow we are better parents than other parents of children with disability. While keeping the advocacy pressure up, parents of children with autism in Canada put together an incredibly successful organization with the bold name "Cure Autism Now." Also highly successful in raising research funds is the fragile X organization called FRAXA, which also is raising money for research on potential drug therapies to improve the cognitive abilities of individuals with this genetic condition. Spurred by the efforts of such parent groups, nowadays some of the most influential neuroscientists in the country, including Nobel laureates, are doing research in the fields of autism and fragile X. Given the lack of available funding, the popularity of Down syndrome research among such scientists is unfortunately much lower.
Historically, whenever firm scientific knowledge is lacking in any given area, mythology, "educated guesses", and plain old opportunism tends to fill in the vacuum. That is how, by preying on the hopes of many parents, a plethora of so-called alternative therapies have been developed. These include various incarnations of nutritional supplements, chemical agents not typically meant for human use like DMSO, ineffective and unpredictable medicines like piracetam, and bizarre and potentially dangerous things like sicca cell therapy.
During a recent conversation on alternative therapies, a friend shared a piece of family history that I thought was quite pertinent to the issue of Down syndrome today. My friend's mother, a registered nurse, struggled with the attention deficit hyperactivity disorder that affected her son as a child growing in the mid 1970s. After exhausting all the psychotherapic options available, she was desperate enough to try a few of the many diets then available that claimed to "cure" ADHD. Of course, none of these worked either. That was when a new pediatrician suggested that she tried the then new medication called Ritalin. After only a few days, the behavior of her son improved dramatically. Today, from a troubled child and a potential sub-employed dropout he is a responsible married man with a great job in the computer industry. The main two lessons we can all learn from this story are: 1) diets and portions may make some parents "feel good" about themselves because they at least feel they are trying something, but, if the therapy does not address the basic underlying problem, it will not have a positive effect on the child; 2) a correctly prescribed drug therapy may have positive effects even on school-age children with at least one form of developmental disorder. Of course, one should also be aware that, just like any other psychoactive drug, there are risks of overprescription, abuse, and other potentially dangerous side effects with the use of Ritalin and similar agents in the treatment of ADHD. But at least there is a real pharmacotherapeutic option that has proven to have positive effects on a significant number of individuals affected by this condition. The same is not true yet for Down syndrome.
To finish this article, I would like to leave you with the words of the Scottish special educator and Down syndrome researcher Dr. Jennifer Wishart, who dared to see beyond the political correctness of the time and said:
"It is still the case that many children with DS do not progress beyond the capabilities of the average 6-8 year old, with a significant number failing to achieve even that. Children with DS may be leading healthier and happier lives and benefiting greatly from the growing acceptance of their right to take their place in the community but we are still failing them when it comes to identifying ways of helping them to compensate for the very real problems they encounter in learning basic childhood skills [bold and italics added to the original text]."
(In "Cognitive abilities in children with Down syndrome: developmental instability and motivational deficits. Prog Clin Biol Res, 1995, 393:57-91")Growth Hormone Treatment in Young Children With Down's Syndrome: Effects on Growth and Psychomotor Development. Growth, Genetics & Hormones. Abstracts from the Literature. Volume 16, Issue 1, March 2000. URL: http://www.gghjournal.com. Permission granted by Jere Lifshitz, RN, MS, Director of Operations on behalf of Prime Health Consultants and the authors. Between the ages of 6 months and 3 years, children with Down syndrome experience a significant reduction in growth velocity, and it also is during that time that a decline in Intelligence Quotient (IQ) is noted. Thus, Annerén et al treated 15 children (6 boys and 9 girls) with Down syndrome with exogenous GH (0.1 IU/k/d) for 3 years beginning at 6 to 9 months of age. Height, weight, and head circumference were measured every third month during the first year, every 6 months during the second and third years, and 12 months after therapy. In addition, tests of motor development (motor perceptual tests) and mental development (Griffith's test) were performed before GH treatment, 1 year into treatment, at the end of treatment, and 1 year after treatment was stopped. Measurements were made of insulin-like growth factor 1 (IGF-1) and serum IGF-binding protein 3 (IGFBP-3). Fifteen aged-matched children with Down syndrome served as controls. No child in either the treated or control group had any cardiac malformations.