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By: Sally Felkai My baby niece was born Easter Monday. Her beautiful face looks just like our babies, like her older cousins and her siblings and her aunties and uncles and parents when we were all babies. My very cells recognize her. The moment I saw her my heart broke open again to eat her up. My ovaries leapt. I want another one. I want her. I want one like her. Our memories continually rewrite themselves. As we access them and relive them and subtly revise them, they go back in altered form to be reaccessed and altered over and over again until they fit. Fit what? I want to alter the moment I first saw A's face. She did not look like the babies in our family. Something was wrong and I knew it immediately. I want to tell the story again over and over until it fits. The view from here is full of love and joy and acceptance. Not only do I recognize her now, I see that she recognizes me. She sees everything, my full of surprises miracle and the drawer out of inner things. I want to rewrite that moment to imbue it with all I can see from here 5 years later. I want that moment to be like the moment I saw my son, my niece and all of the others. I want to erase the disappointment, the sadness, the despair and above all the fear which still leaves it's almost invisible trail over mine. I met a 3 month old baby recently. She was at the playgroup we attend with other families that thrive and sometimes struggle with an extra chromosome. She was beautiful. She was perfect. My heart broke open for her too. I can see from here how she is exactly who she needs to be, with her littleness and her wonderfully alert expression surprising her parents and brother continually just like our mysterious surprise child. When I tell A about her birth, how will the story go? I was scared? I didn't know what to do, how to go on? How to start over? Will I tell her I had to fight to feed her for nearly 2 months with a fight so intense I forgot about Down Syndrome? Like Pi fighting the tiger in his life boat. Will I tell her how quickly she came and how the birth labour paled in comparison to the labour of the heart that followed? Will I tell her that I had grieved for another baby that didn't make it and that there was no way I was going to let doctors probe her in utero to give me the choice of termination? Will I say any of this or will I let her shining presence be enough? This child doesn't need a story. This child is here and fully present containing everything, reflecting everything, releasing everything and holding nothing. It is enough to just be with her and let the magic work. So the magic slowly edits that moment, polishing away the edges of fear and sadness to a smooth shine reflecting the gratitude for every second we've got. This post is reprinted by permission from Sally's blog, Wide Awake Planet.
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DSRF was proud to host Dr. George Capone for a one day conference on Down syndrome covering topics relating to overall health and development. Working with Dr. Osman Ipsiroglu, Dr. Sylvia Stockler, Kirsten Graham and of course Dr. Capone (please refer to endnotes for associations), we planned for a day filled with information relevant to families and professionals. The conference was broken into three sections, with lots of time for questions and answers. The three segments focused on: Overviews: Down syndrome as a genetic disorder and a neurobiologic disorder, impact on brain development/function, behavior phenotypes, and sleep disorders Medical: epidemiology, medical risks and screening, research data on behaviour and mental health Interventions: basis for identifying and prioritizing targets for biomedical intervention into cognition, promoting cognitive development, enhancing established cognitive function, and preventing cognitive decline There were many important points made during the presentation. While we cannot include them all in this brief summary, we have tried to capture those that have the most significance. Chromosome 21 (C21) was sequenced in 2000 as part of the Human Genome Project, yet there is still no therapeutic focus. There are still huge gaps in our knowledge of the consequence of the triplicated genes on C21 which exert continuing effects across the lifespan. C21 contains 350-500 unique genes in 3 copies, and in addition there are modifier genes that interact with C21. A distinguishing feature of Down syndrome is the decreased number of cells in all parts of the body (i.e. this includes bone density, organs, and the brain). The opportunity for complex connectivity is reduced from the start due to fewer brain cells. Genes (including CBS and SOD) that impact DNA synthesis, repair and cellular methylation are located on C21. This may impact an individuals’ ability to effectively metabolize folate and it is also a B12 dependent process. Much has been done to enhance the effectiveness of prenatal testing, but little has been done to develop meaningful therapies. Suggested rational targets for prenatal and postnatal interventions include therapies that are focused on enhancing neurogenesis and cell survival to increase stable nodes upon which to build circuit complexity. These could include: transcription factors, growth factors (brain-derived neurotrophic factor), signaling molecules (sonic hedgehog) and stem cells. “Developmental theory is a proxy for true understanding of complex events. Has this therapeutic focus resulted in real improvement or benefit? Developmentally based education, including coaching, parent training, guidance, and individualized teaching may provide benefit for some, but for others - maybe not. These are limited tools against the reality of an extra chromosome 21 in every cell of the body.” There are recognized challenges to the Canadian model of care, where a physician or pediatrician may have only one patient with Down syndrome on their caseload. This makes it very challenging for a primary care pediatrician or general practitioner to stay on top of research and best practice information, and points to the need for a more specialized model of care with centralized resources and knowledge base. It is very important to medically screen asymptomatic individuals, rather than only deal with issues once symptoms have surfaced. It is also important to look beyond observed behaviour for physiological causes. The updated Health Care Guidelines for individuals with Down syndrome is a good tool for families and clinicians to use, and may help to identify issues before they become a major problem. See the American Academy of Pediatrics Health Care Guidelines and the Health Watch Table for DS from Surrey Place Centre in Toronto. Health management should be thought of as having three components: neurocognitive and mental health, weight/metabolic and restorative sleep. Neurogenesis is involved with moving short term knowledge acquisition into long term memory, and this is negatively impacted by high stress, high cortisol levels, bad sleep and no exercise. Medications can interfere with sleep. Restless or motorically active sleep is an indication of poor quality sleep. Periodic limb movements can be a result of low levels of ferritin, which may be treated with supplements. Good sleep is critical to the consolidation of memory and learning. Dr. Capone compared restorative sleep to syncing your iPod to your computer: “Your downloaded music and apps aren’t permanent until it has been synced!” Obstructive sleep apnea is very common in DS. Airway factors are a bigger factor than obesity, and having your tonsils out does not protect against obstructive sleep apnea. When learning is compromised and/or behaviour indicates poor executive function (including inhibition, cognitive flexibility and emotional control), this is a problem in frontal lobe integrity which is further compromised by illness or poor quality sleep. There are often very complex presentations of Down syndrome with many co-occurring conditions that may be exacerbated by missed medical conditions which are likely treatable. Some people with Down syndrome are vulnerable to impacts on executive function and mental health issues at or around puberty, and this may relate to synaptic reorganization that happens around this age for everyone. The life span of individuals with Down syndrome has increased and there is a “tsunami of people with Down syndrome who are aging.” Statistics from the USA Centre for Disease Control show that 2/3 of people with Down syndrome in the U.S. are over age 21, and 1/3 are children. Autism looks different in individuals with Down syndrome. This comparison was made for individuals with dual diagnosis: Social affection is somewhat preserved (not so in autism alone) Individuals with both DS and ASD have more issues with adaptive skills Individuals with DS at 4.7 years and 7 years can show regression-type ASD (they experience a later onset than typically developing children) When comparing the research funding that has been devoted to autism, Down syndrome falls woefully short. At the end of the day we invited families and professionals to stay for a planning session to discuss development of a working group and how to address gaps in health services for individuals with Down syndrome. Advocacy, knowledge dissemination and implementation of measures to improve care for DS patient were the main topics in the final round table discussion. The absence of a specialized DS care center and the consequential gaps in long term care can be overcome by an orchestrated action plan taken by all stakeholders. In order to start this discussion collaboratively with parents, patient advocates, health care professionals serving at all three tier service levels, as well as medical and political opinion leaders, the following action plan has been suggested: (1) To develop a plan for dissemination of protocols among physicians and health care providers in BC, including evidence based screening for common late onset morbidities in DS; (2) To integrate DS related competencies into graduate and postgraduate curricula and explore career paths for fellows and physicians with special interest in DS; (3) To create a subspecialty DS clinic including pediatric and adult specialists (developmental pediatrics, psychiatry) for complex medical cases with focus on subspecialty knowledge dissemination to universal health care providers; (4) To develop a plan for advocacy and government involvement. Associations of Key Individuals Osman S. Ipsiroglu, MD, FRCPC, MAS MBAPhD [Venia legendi, Medical University of Vienna]Adjunct Professor, Thompson Rivers University, KamloopsClinical Associate Professor, UBCBC Children's Hospital,Dept. of Pediatrics, Faculty of Medicinec/o Sleep Research Lab [Sunny Hill Health Center for Children] Sylvia Stockler MD, PhD, MBA, FRCPCProfessor Pediatrics, Department Pediatrics, UBCHead Division Biochemical Diseases, BCCHProject Lead, Treatable Intellectual Disability Endeavour in BC (TIDE BC) Kirsten GrahamParent AdvocateChildren’s Sleep Network George T. Capone, MDDirector, Down Syndrome Clinic and Research Center,Kennedy Krieger InstituteAssociate Professor, Pediatrics,John Hopkins School of Medicine
The CKNW Orphans' Fund has granted DSRF $5,200 for our 2014 summer school programs for students with Down syndrome. Thank you for empowering individuals with Down syndrome to reach their full potential!
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