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Monday, July 30, 2012

Our Trisomy Community Has a Voice

Our Trisomy Community Has a Voice...
Children with Trisomy 13 and 18 and Their Families are Happy!

On 7/23/2012, a precedent-setting study was published in PEDIATRICS – the official journal of the American Academy of Pediatrics. The study consists of 503 invitations sent to families using social networks as support systems in the care and management of their trisomy 13 or 18 child.  An amazing 332 questionnaires were returned (87% response rate) representing 272 trisomy 13 or 18 children. I am proud to be one of those families!  

Why is this precedent-setting? 
  • First of all, there are NO OTHER studies of trisomy 13/18 children represented by such a large sample group! 
  • Second of all, this study will challenge the medical community to rethink how they manage families facing a diagnosis like trisomy 13 or 18.  

My personal hope is that the medical community will also start partnering with the real experts on trisomy – the PARENTS – to help make decisions in the care and management of future trisomy children. We are bringing together families worldwide through social networking, and working together to create resources that will give families the information they need to make informed decisions about their trisomy children. Some of this information is based off of the small number of medical studies (with small sample sizes) that have already been published on trisomy 18 and 13 children. But the majority of it comes from the actual experiences of hundreds of parents and family members involved in the direct care of a trisomy child. Some of this information is already being captured (and has been for years) through a project called TRIS (Tracking Rare Incidence Syndromes) and through the annual conferences and medical information collected through SOFT – Support Organization for Trisomy 18, 13, and Related Conditions. There are also several social networking groups on facebook and nonprofit trisomy organizations working together to create a Parent Experiential Database to summarize much of the knowledge learned and shared between trisomy parents dealing with complex health issues. The beginnings of this parent database will be captured by the end on 2012 on  We hope this will also inspire the medical community to do more studies on our children, and to change the view that trisomy 18 and 13 children are incompatible with life and not worth the time or effort to give compassionate and potentially life-saving care.

As for the Pediatrics-published study, one of the most well-published academic neonatologists in the world (and a true humanitarian) posted about the study on his neonatal research blog. He offers EXCELLENT ADVICE (and a little criticism) to his colleagues. 

And here is just a brief look at how this new study has affected the news...

The Most News Seen on Trisomy 18 or 13 in Such a Short Time!
These are just a few of the pages and pages of references to the Pediatrics-published study...  
  • The Canadian Press – Toronto (7/23/12): Parents of babies born with disabling anomalies report they enrich families
    “This study should have us stop and think about what decisions, for which children, have been made on the basis of misinformation,” says Francoise Baylis, a professor of bioethics and philosophy at Dalhousie University in Halifax. “The negative narrative needs to change. Parents’ experiential knowledge matters and should be available to expectant parents and new parents.”   
  • Daily RX(7/22/12): Trisomy 13 and 18 children and their parents lead rewarding lives
  • Deseret News(7/27/12): Parenting Severely Disabled Kids Can Be a Great Source of Happiness 
    "Regardless of the length of their lives, children with trisomy 13 or trisomy 18 — a chromosomal abnormality that can cause shortened lifespans and severe disabilities — not only led happy lives, but enriched the lives of their families, according to a new study published in the journal Pediatrics July 23."
  • EurekAlert! (7/23/12): Children with trisomy 13 and 18 and their families are happy – Quality of life perceived by parents is better than that predicted by physicians
  • Europe Med (7/25/12): Children With Trisomy 13 and 18 Are Happy Despite Poluar Beliefs
  • Fox News (7/23/12): Parents, docs may clash on quality of kids’ lives
  • HuffPost Living CanadaT13,T18 Babies Born With Congenital Anomalies Reportedly Enrich Families
    "A new Canadian study drawing on the experiences of parents paints a dramatically different picture than that in medical literature of the short lives of infants born with the congenital anomalies Trisomy 13 and Trisomy 18.Medical textbooks are grim and bleak about babies born with genetic codes considered "incompatible with life." But the study says parents who have these children speak of the joy found in what is almost inevitably a short lifespan. These children, they say, can enrich a family rather than destroy it."
  • JAAPA (Journal of the American Academy of Physician Assistants) and MPR (Monthly Prescribing Reference)(7/23/12): Study Examines Effect of Trisomy 13, 18 on Families, Providers
  • Medical News Today (7/24/12): Children Eith Trisomy 13 and a8 Are Happy Despite Poluar Beliefs
  • Medline Plus (7/23/12): Parents of Severely Disabled Kids Say They Enrich Their Lives 
  • Montreal Gazette (7/25/12): Parents of kids battling rare disorder Trisomy 13 fight back – Doctors take approach to condition, they say
  • Neonatal Research blog - Dr. Keith J Barrington (neonatologist and clinical researcher and chief  of service at Sainte Justine University Health Center in MontrĂ©al.): “Our children are not a diagnosis”: the family experience of trisomy 13 and 18  Dr. Barrington includes a list of guidelines that neonatologists should follow. "This study points out the uniqueness of each of these children and the heterogeneity of condition and survival. They emphasize that we cannot be definite about the duration of survival or the capacities of an individual. They conclude: Parents who engage with parental support groups may discover an alternative, positive, description about children with T13-18. I conclude; we need to rethink how we present diagnoses of serious conditions to parents." Science Daily (7/23/12): Children With Trisomy 13 and 18 and Their Families Appear Happy
  • Seattle Children's Hospital (7/24/12): Social Networks Serve as Source for Parents  "Mildred Bay initially found some solace and information via social networks.  A pediatrician by trade, Dr. Bay was a resident at Seattle Children’s and now works at Peninsula Children’s Clinic.  Lucy, 3 and one-half months old, has trisomy 18.  Dr. Bay said hearing that diagnosis was a complete shock. ...  “I would look at various blogs and websites, and learn about what other families’ experiences were like.”  Many families have very intense but ultimately very positive experiences with their children despite the diagnosis, she found.  “As a pediatrician, and having worked at Seattle Children’s, I knew kids with complex medical issues.  The road is hard, but not unmanageable if you have the right support.”"  
  • Suite 101 – Pregnancy & Childbirth (7/25/12): Raising a Child with a Disability – Parent’s vs Physician’s View 
  • US News & World Report (7/23/12): Parents of Severely Disabled Kids Say They Enrich Their Lives – Families dealing with trisomy 13-18 face grim predictions, turn to online support, study found  "When Vanessa Hernandez's sixth child was born, she knew right away her daughter was different.Hernandez's pediatrician wept as she told her the diagnosis. The baby had trisomy 13, a devastating chromosomal abnormality. Most children die before their first birthday and have serious mental and physical disabilities, including heart and breathing problems....according to the study in the August issue of Pediatrics. Many parents -- 87 percent -- were told their child's condition was "incompatible with life," 57 percent were told their child would live a life of suffering, 50 percent were told their child would be a "vegetable" and 23 percent were told their child would "ruin their family." The medical community, including the American Academy of Pediatrics Neonatal Resuscitation Program textbook, recommends against resuscitation for trisomy 13 and 18." 
  • Washington Post (7/23/12): Varying views on Trisomies 13 and 18

More on Barb Farlow's Story: 
Barb Farlow is one of the co-authors of this amazing study.  I am extremely privileged to know Barb. She is such a tremendous resource to the trisomy 13 & 18 communities. Her story about her T13 daughter is worth the read! She is an amazing woman and mother, and an incredible advocate for our children.  

Thursday, July 26, 2012

Looks Great!...On The Surface (i.e. What You See is NOT Always What You Get)

The Big Buzz in the Disability Community is the UN Convention on the Rights of Persons with Disabilities. On the surface, this is a GREAT list of societal attributes to aspire to. Who would publicly admit, or even debate, that they don't agree with the general principles of the convention? They describe a level of humanity and dignity that everyone deserves.
(a) Respect for inherent dignity, individual autonomy including the freedom to make one’s own choices, and independence of persons;
(b) Non-discrimination;
(c) Full and effective participation and inclusion in society;
(d) Respect for difference and acceptance of persons with disabilities as part of human diversity and humanity;
(e) Equality of opportunity;
(f) Accessibility;
(g) Equality between men and women;
(h) Respect for the evolving capacities of children with disabilities and respect for the right of children with disabilities to preserve their identities.

I certainly want to see this for all disabled people!  And as the parent to a severely handicapped child, I want the USA to aspire to all of these principles! The problem is, that isn't the issue, or the debate!  The USA is already leaps and bounds above other countries of the world in providing disability rights to its citizens. Our grand-daddy of disability laws is the Americans with Disabilities Act. Then there is the Assistive Technology Act .  Our Individuals with Disabilities Education Act (IDEA) and section 504 of the Rehabilitation Act are essential for the amount of inclusion and resources that families with disabled children have in an educational setting - much more than anywhere else. The Architectural Barriers Act specifies design requirements for new and remodeled buildings. Until you travel internationally with a wheel chair, you just cannot appreciate how access friendly most of our buildings are.  In fact, if you need more evidence that the USA already "gets it", then this US Department of Justice Guide to Disability Rights Laws may help inform you of just how far we've come. 

Are we perfect? Of course not. There is plenty of room for improvement! But listening to my many international friends with disabled children, we have been paving the way for disability rights long before the UN took up the fight.  We do not need the UN to direct us in this path.

So what exactly is the problem?
I was going to list a bunch of issues and directly relate them back to the Convention details, but there are some organizations out there who have already done this.  Here are some links you can check out to get more info on the topic:

The article, Protecting the Rights of Parents and their Children, by Karen and Rick Santorum, does an excellent job of summarizing many of the issues I personally have with the convention. 

But even beyond their points (that I totally agree with) on disabled children, homeschoolers, and our God-given rights as parents, I have two other issues.

  1. I just don't understand why any US citizen would want or feel obligated to bow to a governing body that we did not vote for nor has our country in their best interests. It is not a democracy to allow a foreign body the authority to compel our conformance to regulations written by UN bureaucrats. Paragraphs 10, 23, and 25 of the treaty are so broadly written that they might even be interpreted to affect right-to-life issues. 
  2. Who is the UN's Health "arm" that defines policies and standards for worldwide healthcare issues? Not who, but WHO - World Health Organization. :-)  From their website: WHO is the directing and coordinating authority for health within the United Nations system. It is responsible for providing leadership on global health matters, shaping the health research agenda, setting norms and standards, articulating evidence-based policy options, providing technical support to countries and monitoring and assessing health trends.  Not many people will *get* this point because it directly relates to those with children internationally defined as "lethal anomalies".  This subject is near and dear to me, as my daughter's condition is one of the so-called "lethal anomalies". (Good thing she doesn't know this!!) On page 43 of the WHO manual entitled Primary Health Care Approaches for Prevention and Control of Congenital and Genetic Disorders, the "options for best possible care in common congenital disorders" defined for trisomy 18 is... palliative care (surprise! surprise!).  Please note that this is the only option listed for trisomy 18.  And that protects my daughter's disability!  And if you do some digging (and WHO does not make it easy to find these documents, most references are accidentally found on other medical or related websites), you will find more disturbing references regarding those with severe cognitive disabilities.  And, as far as I am concerned, ANY (health-related) conventions created by the UN will implicitly follow the policies set forth by WHO as implied by their definition.  

Maybe I just got lucky? After all, my daughter DID go home on just Hospice / Palliative Care at the age of 6 days old, mostly because we were told that trisomy 18 children just don't live. Well, after seeing her fight and her will to stay here despite such severe apnea episodes around the clock that we nick-named her "Blue Belle" as she set off her apnea monitor constantly, we took her off hospice and went back to the hospital at 6 weeks of age. She surely would have died in a few more weeks as the stress of no sleep and inability to breathe slowly deprived her organs of oxygen and weakened her body despite her fierce fighting spirit. And even though the hospital did start all kinds of tests to determine the problem (which was defined as central apnea before any testing had even begun - just because that's what doctors are told - trisomy kids die from central apnea and/or heart conditions), we were still told it would be better not to pursue interventions.  Once a simple full sleep study showed that she had severe OBSTRUCTIVE APNEA, and not central apnea, we were able to gain medical support and quickly move to address her apnea through a trach to stabilize her. She is now a relatively healthy 3 year old (despite her delays) with full trisomy 18.  Her prognosis is unknown because she has defied the lethal anomaly / incompatible with life label.  She is Rebekah, a loved child.  On the surface, she is see as Trisomy 18.

So I leave you with the thought that what you see (on the surface) is not always what you get - neither with the UN Convention on the Rights of Persons with Disabilities, nor with Trisomy 18 and my daughter. 

Monday, July 23, 2012

Hypersensitivity in Trisomy Kids

Many trisomy kids have sensory defensiveness or sensory processing disorder (in layman's terms, hypersensitivity to touch and/or tactile input - including oral stimulation).

When Rebekah was a little over a year old, we worked with an OT that had us perform the "Wilbarger Brushing protocol" on Rebekah. It helped tremendously and we were actually able to get her to eat some orally and not react to physical input with crying. It also helped her become better at managing sensory-overload situations (like really busy, really loud places).  We eventually stopped the program because we were not seeing additional benefits. But last fall, Rebekah decided she didn't want anything in her mouth anymore. We figured it was just due to becoming more active physically. Many special needs kids will advance in one area, and regress in another for awhile. Well, her oral defensiveness has not gone away and we've lost ground on the oral feeding. Plus Rebekah sometimes acts strangely when touched in certain places. So her nurse and I discussed starting her back on the brushing program that we thought was helpful before.

The formal name of the program is called the The Wilbarger Deep Pressure and Proprioceptive Technique (DPPT) and Oral Tactile Technique (OTT) and its for Sensory Defensiveness (hypersensitivity to touch and/or tactile input) and Sensory Processing Disorders (SPD).  It was developed by Dr. Patricia Wilbarger, MEd, OTR, FAOTA, an occupational therapist and clinical psychologist that has been working with sensory processing theories for over 30 years. I've seen statistics that only 20% of kids will not benefit. About 40% will be greatly improved, and the other 40% will see some kind of improvements. Minus the starting week of the program, I think this is pretty good numbers for a relatively easy method, so I recommend it to my hypersensitive friends as a good method to try!

To begin, you need to find a therapist (PT, OT, or SLP) trained in the program because it is not recommended to do it without For the first 1-2 weeks, it requires dedication and is intense with the exercises (which only take a few minutes of time, but have to be done every 90-120 minutes around the clock). Once the first 1-2 weeks is completed and the therapist hat is working with you on the program promotes them beyond this initial phase, it then only needs to be done about 3-4 times per day.

Program Steps:
1. Take a deep pressure therapeutic brush and brushing the arms, legs, back, hands, feet in a quick, deep circular or back and forth movement. (This is basically a cheap plastic bristled surgical brush.)
2. Follow with a regiment of joint compressions.
3. Afterwards, complete the oral part of the protocol which requires oral swiping of the mouth a specific number of times followed by a certain number of jaw compressions.
4. The technique should be followed with daily activities that also stimulate proprioceptive input.

Possible Benefits:

  • improved processing and less defensiveness
  • calming
  • improved attention
  • improved transition between activities
  • improved tolerance to being touched
  • better sleeping
  • better therapy tolerance
  • better central nervous system - peripheral nervous system communication which results in movement coordination and better communication

Unfortunately, I cannot find detailed instructions online for the method. Guess that's why you have to go to a therapist trained in the method! But here are some links giving further information about the program and supplemental activities you can do to help improve sensory defensiveness.


It is important to remember that this is just ONE possible "treatment" for sensory issues and defensiveness. It will not work on every child. But we did have success, and are looking forward to seeing some more success when we start again. For an 80% success rate, I say, why not try it?!