Latest Posts

“A wife who loses a husband is called a widow. A husband who loses a wife is called a widower. A child who loses his parents is called an orphan. There is no word for a parent who loses a child. That’s how awful the loss is.”




― Jay NeugeborenAn Orphan's Tale


An Orphan's Tale - Jay Neugeboren






Today is 03-18 or World Trisomy 18 Awareness Day. Rather than posting the usual T18 information and statistics, I wanted to share some videos of mighty Trisomy 18 warriors who are living and loving life. Doctors gave each of these children little hope of survival. Most parents of Trisomy 18 children are told that their children will be vegetables and will live a life of suffering. See for yourself that children with Trisomy 18 can lead full and happy lives.

#Trisomy18 #TrisomyAwarenessMonth #WT18 #CompatibleWithLife #EveryLifeHasValue































March 18 is World Trisomy 18 Awareness Day.

Trisomy 18 syndrome is a disorder of human chromosomes which occurs in approximately 1 in 7,000 live births. Trisomy refers to three copies of a chromosome instead of the normal two. In Trisomy 18 syndrome there is a presence of an extra #18 chromosome. Over 90% of infants with Trisomy 18 have full trisomy. This means that they will have trisomy in all the cells of their body. The remainder of the infants with Trisomy 18 will have Trisomy 18 Mosaicism or Partial Trisomy 18. 






























Trisomy 18 Mosaicism: a syndrome where an individual has an extra third copy of chromosome 18
in only some of the body's cells. T18m is usually less severe than full Trisomy 18. 

Partial Trisomy 18: a syndrome where the individual has an extra third copy of only part of chromosome 18 in the cells of the body. The condition is highly variable depending on how many of the body's cells are involved and how much of the chromosome is involved.

Infants born with Trisomy 18 are usually small in size at birth. Other recognizable features of Trisomy 18 are: 

- prominence to the back part of the head
- short eyelid fissures
- small mouth and jaw
- external ear variations
- clenched fist with index finger overlapping the third, and the fifth finger overlapping the fourth
- underdeveloped or altered thumbs
- short sternum (breastbone)
- club feet
- redundant skin at the back of the neck

The major impact of Trisomy 18 is a predisposition to congenital malformations, a high incidence of infant mortality, and motor/developmental disability.



10 THINGS YOU SHOULD KNOW ABOUT MY CHILD WITH TRISOMY

  1. My child is a blessing, not a burden. She is the sunshine in each new day.
  2. My child has a vibrant and beautiful personality.
  3. My child has the ability to learn.
  4. My child has a sense of humor.
  5. My child has an amazing relationship with her siblings.
  6. My child faces each new challenge with strength and determination.
  7. My child is everything good. She is gentle, kind, loving, honest, and pure.
  8. My child is unique from her crazy eyebrows to her overlapping fingers to her rocker bottom feet.
  9. My child is not suffering. She is the happiest person that I know.
  10. My child is precious and her life has value.




There are many hardships that stand in the way of providing a safe place for our trisomy children. Such hardships include the pressure from obstetricians and geneticists who encourage termination of trisomy pregnancies and hospitals/doctors who refuse to provide appropriate medical care once the baby is born. There are other roadblocks that exist beyond the hospital walls. One of the most difficult roadblocks to overcome is living in a world that views our children as unworthy of life. When this type of thinking persists, we are forced to fight for every procedure, every service, and every basic human right.

While there has been some progress, there is still so much to do. We need to start changing minds and removing the roadblocks that prevent our children from having the life that they deserve. Our children can be compatible with life.

How bad could it possibly be? Here are a handful of tweets that were captured in the past three months. These are everyday people - our friends, our co-workers, our neighbors. It is time to spread awareness and educate!

#TrisomyAwarenessMonth #DownSyndrome #Trisomy21 #T21 #EdwardsSyndrome #Trisomy18 #Trisomy13 #PatauSyndrome #TrisomyAwareness


































Just being there for someone can sometimes bring hope when all else seems hopeless


A trisomy diagnosis is devastating to the family but it can also be a difficult time for extended family, friends, and even co-workers. The manner in which family and friends handle the diagnosis will have a great impact on the relationship with the family.

The family, particularly the mother and father, will go through the stages of grief and loss. The five stages are Denial and Isolation, Anger, Bargaining, Depression, and Acceptance. They may not necessarily go through all of the stages or in the same order, but they will go through it. They will need time to process and accept the diagnosis. They will need time to decide how they will handle things going forward. Where do you fit in and how can you help? 

Don't forget the congratulations. They are still parents of a newborn. Don't let the diagnosis overshadow the birth of their child. Congratulate them and let them know that their child is beautiful and precious. 

Be there. Call or send a message. Let them know that you are thinking of them and that, when they are ready, you will be there to support them. 

Get familiar. You can't be there for them if you don't know what they are up against. Do your homework and learn as much as you can about the diagnosis, prognosis, and possible medical complications. Join support groups. The parents in these groups are both experienced and knowledgeable. They will help you to navigate these uncharted waters.

You can also look up information about their hospital, procedures, and services. Often times, the parents focus solely on the medical condition of their child and overlook minor but important issues. For instance, hospitals often have special rates or parking passes for patients who may have an extended stay. Depending on how long the baby remains in the hospital, things can get very expensive. For example, our parking costs alone exceeded $1800 for our daughter's two-month stay in the hospital.

Other things you can look into are benefits that may be available to the child and family; overnight accommodations, amenities in the hospital such as a family room, microwave, shower, etc.; visiting hours; and social services to connect the family with services in the community.

Get Involved. Mom and dad need to be with the baby. That means their household gets put on the backburner. Help them with chores around the house like mowing the lawn or shovelling the driveway; make a meal or organize a meal train; babysit and spend time with their other children; or visit the baby at the hospital and give mom and dad a short break. These small gestures can make a world of difference.

Supplies. They will spend most of their time at the hospital so they will need supplies. Put together a hospital bag for the family. You can include items like gift cards for coffee or sandwiches, notebook and pen, phone charger, toothbrush and toothpaste, towel, hand lotion, book, parking pass, change for the vending machines, a small blanket or throw, travel pillow, nursing pads for mom, tissue, snacks (granola bars, chocolate, chewing gum), bottled water, juice box, coloring book and crayons, etc.

Fundraiser. As I noted above, the expenses will start to accumulate. The longer the stay, the more it will cost. For those who have been fortunate to have never been in this situation, the costs include travelling to and from the hospital, parking expenses, food expenses, and hotel accommodations just to name a few. There may also be the added financial stress of having one, or both, parents off work to care for the baby. You can help to relieve the financial burdens by organizing a fundraiser or by raising money with an online crowdfunding site such as gofundme.com or caringbridge.com.

The most important thing you can do to support the family is to simply be there when they need you.



Sometimes the difficult things that happen in our lives put us directly on the path to the best things that will ever happen to us
Annie Janvier, Barb Farlow and Ben Wilfond published a rather disturbing study (Janvier A, Farlow B, Wilfond BS: The experience of families with children with trisomy 13 and 18 in social networks. Pediatrics 2012.) It is one of those studies that challenges many assumptions. They set up an internet questionnaire and contacted parents of infants with trisomy 18 and trisomy 13 who belonged to various internet-based support groups.
In this publication; 332 parents completed the questionnaire, some had prenatal diagnosis and others postnatal. Those with prenatal diagnosis may or may not have had access to abortion services, but if they did, they had obviously chosen not to terminate because the study only included parents of infants who had been born alive.
About half of the parents had opted for palliative care and a quarter for limited medical care after birth, the remaining 25% had wanted full intervention. Interestingly, survival duration was not much different between these families.
One of their important findings was that they asked parents if they regretted their choices regarding the extent of medical intervention. The parents who regretted their choices were overwhelmingly those who chose to limit the medical interventions to comfort care only, or less than full intervention.
Also of note the children did show signs of developmental progress, and all were able to communicate with their parents at some level.
The parents report overwhelmingly, that the experience of living with these children had made a positive contribution to their family life, irrespective of the length of their lives, and even though it had created substantial financial costs. They also report their child as being a happy child.
What is most distressing is how negative the families’ interactions with healthcare providers were. Although 2/3 of the families did meet at least one provider who was helpful; most had received misinformation, and many of those who chose to have active care felt that they were judged negatively by providers for daring to make that decision. Providers also often referred to their baby in de-humanising terms, calling their baby ‘it’ or ‘a T18’. They recount interactions with providers who never learnt their baby’s name, instead referring to the child by their diagnosis.
This study points out the uniqueness of each of these children and the heterogeneity of condition and survival. The 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.
I must admit to an enhanced interest in this publication, I know Barb Farlow personally, she contacted Annie and me a few years ago, after her family had a distressing interaction with healthcare providers. Her own daughter was born with trisomy 13 and eventually died after a re-admission, when a do not resuscitate order was placed in her baby’s chart without her knowledge or consent (or that of her husband; she has written about the experience here and here and here). Interacting with Barb and then going on to review the websites, youtube videos and personal stories of families who had a child with one or other of these trisomies has really enhanced my understanding of how some families with such children react. One very touching video, which has become quite well known, is 99 balloons, another is here. I encourage anyone who has to care for families whose children have severe impairments to spend some time listening to the parent stories, the videos and the websites.
So here are some guidelines to use when talking with parents who have received a diagnosis, prenatal or postnatal, guidelines that you could develop as a result of these families’ reports of their experiences:
1. Don’t say that this is ‘incompatible with life’ or ‘lethal’; anyone can go on the internet and find very quickly that you lied to them.
2. Don’t say that if they survive ‘they will live a life of suffering’, parents do think that their child had more pain than others, but they also had many positive times, and their overall evaluation was positive.
3. Human beings are not vegetables. These children are conscious and interact, even if at very limited levels. Carrots don’t.
4. Don’t predict marital disharmony, or family breakdown. You can’t see the future, there is no evidence at all that this occurs more when a family has a baby with severe impairments, and indeed in this admittedly biased sample the divorce rate was far lower than the US or Canadian average.
4. Families find meaning in the lives of their children. Whether those lives are unimpaired or lived with severe impairments. Whether they are very short or not.
5. Don’t suggest that the child is replaceable. Sometimes parents will bring up the idea that they can have another child, that is fine if they do so, but for you to suggest it really shows that you think this child is worthless.
6. Don’t say that there is nothing you can do for them. There is a lot you can do. Empathy and a positive attitude can be a great help. Finding resources, respite care, enabling appropriate medical care, these are all things that you can do for them.
7. Be very explicit about medical decision making, come to an agreement about the limits of medical interventions (if you can’t, then find them another doctor who can); and be open to changing the plan as time goes on.
8. Refer to the child by name if there is a name. (Annie has often recounted to me that when she sees parents antenatally with a serious diagnosis she will ask them what the baby’s name is. They often become teary and tell her it is the first time anyone has recognized their fetus as being a real potential human being, it is one of the many things she has taught me.)
9. Above all recognize that these babies are human beings who will be loved, who will be cared for, who will leave a positive mark on their families, and who deserve respect.
Courtesy of Neonatalresearch.org.
The greater the obstacle, the more glory in overcoming it. - Moliere

Chromosomal anomalies are believed to be the single most common cause of miscarriages. It is estimated that more than half of all miscarriages are as a result of chromosomal abnormalities.

Did you know that trisomy can occur in any of the 23 pairs of chromosomes? While trisomy may occur in any chromosome, the survival rates are low -- but not impossible.

Trisomy 21 (Down Syndrome) 

Down syndrome is the most common trisomy seen in newborns. Typically, there is a higher survival rate with Trisomy 21 but it too carries a significant risk of miscarriage. 

Children with Down Syndrome have very distinct facial features, short hands with a single crease in the palm, poor muscle tone, excessive flexibility, small white spots on the iris of the eye called Brushfield's spots, short stature, mild to moderate cognitive impairment.

Complications associated with Down Syndrome include heart defects, gastrointestinal defects, immune disorders, sleep apnea, obesity, and dementia.

Life spans have increased dramatically over the years. Some people with Down syndrome can now live more than 60 years.

Trisomy 18 (Edwards syndrome)

Trisomy 18 occurs in approximately 1 in 6,000 live births. making it about ten times rarer than Down syndrome. Most cases of trisomy 18 are caused by an extra number 18 chromosome. 
Children with trisomy 18 have physical birth defects. Most infants with trisomy 18 will have some sort of heart defect, and some may have kidney, lung and diaphragm abnormalities.

Trisomy 13 (Patau syndrome)

Trisomy 13 (Patau syndrome) is the third most common autosomal abnormality among newborns, following Down syndrome (trisomy 21) and Edwards syndrome (trisomy 18). Most cases result from total trisomy 13 with a very small proportion of trisomy 13 being caused by mosaicism and translocation. 

Children with trisomy 13 can have cleft lip and palates, extra fingers and toes, malformed and rotated internal organs, severe congenital heart defects, and severe brain abnormalities. 

47, XXY Syndrome (Klinefelter syndrome)

Klinefelter syndrome, 47, XXY, or XXY syndrome, is a condition caused by an extra X chromosome.

Affected individuals have two X chromosomes and one Y chromosome. Many individuals are unaware that they have Klinefelter syndrome as the differences due to having an extra X chromosome are not very obvious and often go undetected.

The main problems seen in Klinefelter syndrome are small testicles and reduced fertility. A variety of other physical and behavioral differences are common; however, the severity of these symptoms can vary from person to person. 

47, XYY Males

Some boys are born with an extra Y chromosome and have a 47, XYY karyotype. Most often, this extra Y chromosome causes no unusual physical features or medical problems. Males with 47, XYY syndrome can sometimes be taller than average and may have an increased risk of learning disabilities as well as delayed speech and language skills. Developmental delays and behavioral problems are also possible, but these characteristics vary widely among affected boys and men. Most males with 47, XYY syndrome have normal sexual development and are able to conceive children.

47, XXX ( Triple-X, Trisomy X, and XXX Syndrome)

Some girls are born with triple X syndrome. Triple X syndrome often has no associated physical features or medical problems. A small proportion of women with the condition may have menstrual irregularities as well as learning disabilities, delayed speech, and compromised language skills. However, many individuals with 47, XXX syndrome have completely normal physical and mental development.

Trisomy 15. 

Trisomy 15 is rare. Most pregnancies with trisomy 15 end in early miscarriage. In pregnancies that have progressed, the fetus often has abnormalities of their facial and cranial features, hands and feet, and growth delays. Trisomy 15 has been linked to Prader-Willi syndrome.


Trisomy 16

Trisomy 16 is the most common autosomal trisomy seen in miscarriages and accounts for at least 15 percent of first trimester miscarriages. Most fetuses with trisomy 16 are lost around 12 weeks although a small percent may be lost in the second trimester. A few fetuses with mosaic trisomy 16 have survived until birth. Most of these infants have growth failure, psychomotor issues, and die early in infancy.

Trisomy 22

Complete trisomy 22 is the second most common chromosomal cause of miscarriages. Survival beyond the first trimester of pregnancy is rare. Complete trisomy 22 is very rare. 

If you or your loved one has been diagnosed with a chromosome disorder and would like information regarding a specific karyotype, please visit UNIQUE at www.rarechromo.org
If you have received a Trisomy diagnosis, you have probably already scoured the internet for information. It is also likely that your search has left you feeling shattered and defeated. Most of the information that is found online and provided by healthcare professionals is from outdated medical textbooks. While it's true that this is a devastating diagnosis, it is not hopeless. Trisomy babies do survive - some trisomy 18 children have defied the odds and lived happily into their late 30's. 













Trisomy refers to cells having three copies of a chromosome. When three copies of any one of the chromosomes are present, rather than the normal two, the outcome is 47 chromosomes in the cell, instead of the usual 46.  In the case of trisomy 18 and 13, this extra chromosome results in congenital malformations, serious developmental and motor delays, and a high incidence of mortality.


Every Life Has Value
Trisomy 18 (Edwards syndrome) is the second most common autosomal trisomy syndrome and trisomy 13 (Patau syndrome) is the third most common autosomal trisomy syndrome with trisomy 21, Down syndrome, being the most common.

The diagnosis of trisomy 18, Edwards syndrome, or trisomy 13, Patau syndrome, is much more serious than the more commonly known trisomy 21, Down syndrome.  Developmental and physical delays are present in all three syndromes, but in trisomy 18 and trisomy 13 these delays are usually greater and the prognosis includes a much shorter lifespan, as most will not survive their first year of life.  However, these disorders are not universally lethal, as sometimes described; 5-8% of these infants live past their first birthday often without extraordinary measures. And, once a child’s age is greater than a year there is a 60% chance to live beyond age 5 years.  (Dr. John C. Carey, medical advisor for SOFT, 2011)

Full trisomy refers to three copies of a chromosome being present in all cells and is the most common form of trisomy 18 or 13. Mosaic trisomy and Partial trisomy occur far less often, with variable and generally better outcomes but some individuals are as affected as those with a full trisomy.  Mosaic trisomy refers to two cell lines in a person; a portion with trisomy (3 copies of a chromosome), the other with 2 copies.  Partial trisomy occurs when only a piece of a chromosome is extra in a person’s body cells.