Dancing in the Rain
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A Trisomy 18 Journey

Life is not about waiting for the storm to pass. It's about learning to dance in the rain. -- Vivian Greene

Tuesday, March 18, 2014

Trisomy 18 Awareness Day 2014

March 18 is Trisomy 18 Awareness Day. In recognition of this day, I have compiled a list of 18 things* I think everyone should know about Trisomy 18.

1. Trisomy 18 is also known as Edwards Syndrome.

2. The incidence of trisomy 18 is approximately 1 in 5000 live births. This does not include babies who were miscarried early or born still.

3. There are three types of trisomy 18: full, mosaic, and partial. In full T18, every cell contains a third copy of chromosome 18. In mosaic T18, only some of the cells contain an extra 18th chromosome. In partial T18, only a part of an extra chromosome 18 is present instead of the entire chromosome.

4. Having a child with trisomy 18 occurs more often in older mothers but can also happen to younger mothers.

5. Trisomy 18 can be diagnosed in utero by chorionic villus sampling and amniocentesis, both of which are invasive tests and carry a small but real risk of miscarriage. Blood tests (Harmony, MaterniT21) are also available to test for trisomy 18. These tests have been shown to have an accuracy of 97-99%. 

6. 99% of families with a child living with trisomy 18 describe them as happy!

7. 90% of babies with trisomy 18 have a heart defect.

8. Girls with T18 are more likely to survive than boys with T18, but there are some strong survivors out there -- both boys and girls!

9. Some babies and children with T18 can eat orally while others require a feeding tube. Some are fed both ways.

10. Every child with T18 is unique as T18 can affect the body in many different ways.

11. Babies and children with trisomy 18 have beautiful smiles!

12. The oldest living person with trisomy 18 currently (that I can find) is in her thirties!

13. Babies and children with T18 experience significant physical and cognitive disabilities but can learn new skills and interact with others.

14. Approximately 10% of babies born with T18 will reach their first birthday.

15. All babies and children with T18 are special.

16. Parenting a child with T18 is challenging in many ways, but it is also full of unique blessings.

17. Babies and children with T18 are adored by their siblings.

18. Life is a precious gift, including life with T18.

Our Julia was diagnosed with T18 on her second day of life.  We are very blessed to have had 382 very special days together. We miss her every single day and are honored to be her family forever.

*I originally compiled this list in 2012 but I wanted to re-post on this year's T18 Awareness Day!

Wednesday, March 12, 2014

A Look at the Experiences of Trisomy Families in the Medical Literature

In today's post I will summarize an important article to our community entitled "The Experience of Families with Children with Trisomy 13 and 18 in Social Networks." It was published in the well-known medical journal, Pediatrics, in July 2012. One of the authors is a trisomy parent herself. There are a lot of numbers cited in the study but let me highlight a few:

99% of parents of children living with trisomy 13-18 describe their children as happy.
98% of parents report that their children with trisomy13-18 enriched their lives.

These are not statistics that one would see anywhere else. This is the first study of its kind in trisomy families. Please continue for a more extensive look at the article.

The Experience of Families With Children With Trisomy 13 and 18 in Social Networks
Annie Janvier, Barbara Farlow and Benjamin S. Wilfond
Pediatrics; originally published online July 23, 2012;
DOI: 10.1542/peds.2012-0151

Trisomy 13 and 18 are viewed as lethal conditions due to their high morbidity and mortality. A low percentage, 6-12%, survive past one year of life. Because of this, the American Association of Pediatrics Neonatology Resuscitation  textbook and that American Heart Association recommend against resuscitation for these conditions. Parents who continue their pregnancies may request that such interventions be made at birth which in some cases is met with resistance or negative responses from physicians. Finding little support in the medical community, parents may turn to social networks to learn from the experience of other families. These groups provide resources, photos, and support to trisomy families. The information from these groups can seem at odds with the information given by the medical community as a whole.

Study Objective:
The objective of this study was to describe the experiences of parents who are members of social networks and who have (had) children with trisomy 13-18. The authors hope that this results in better communication between parents and their physicians in regard to caring for their children with trisomy 13-18.

A computer questionnaire was sent to 503 individuals who were identified through one or more of 18 English speaking websites or Facebook groups associated with t13-18.

Three hundred thirty-two parents (of 272 children) completed questionnaires for the study. To be included in the study, participants had to be a parent of a child who lived/lives with trisomy 13-18 including full, mosaic, partial, and translocations. Families who experienced in utero deaths were not included. Incomplete questionnaires as well as those completed by persons other than parents were excluded. Most respondents were from the US (76%), followed by the UK (9%) and Canada (8%), and 7% from other countries. Of the 332 parents, 74 were fathers and 258 were mothers. For sixty children, both parents responded. The median age of the mothers at the time of the birth of their child with t13-18 was 33 years. Respondents were well-educated with 68% having at least one college degree and 25% having postgraduate degrees. 89% of parents claimed to be religious including 37% who did not attend religious services.

216 of 272 children had/have full t13-18. Forty percent survived past one year and 37% were still living at the time of publication. Survival to age five was 21%. Of the 79 still living, 96% with t13 and 91% with t18 are greater than one year.

Of the 216 children with full t13-18, 25% received full intervention at birth and 50% received comfort care. In the full intervention group, one-third died before hospital discharge, 36% died before the age of three months, and one-half lived past one year. In the comfort care group, one-third died before hospital discharge, one-half died before three months of age, and one-third lived past one year.

Cardiac abnormalities are a common comorbidity of trisomy 13-18. 146 children in this study had cardiac malformations. Twenty-five received cardiac surgery. Of those, twenty-one children lived more than one year post-surgery and ten lived more than five years post-surgery.

Children with t13-18 who were living at home were found to have various medical needs. One child had a tracheostomy with ventilator support. Fifty-four percent were on supplemental oxygen as needed and 11% received full time oxygen support. Fifty-nine percent had a gastrostomy tube (g-tube) although not all were exclusively fed through their tube. Ninety-five percent of parents surveyed reported being able to communicate with their child and to understand their needs. When parents were asked to describe their child living with t13-18, 99% described their child as happy. Over fifty percent of parents with children living with t13-18 reported that taking care of their child with significant medical need was more difficult than expected. Forty-four percent of parents with a child who lived more than one year state that the financial sacrifices required were very challenging.

In the families of children who died (187 parents surveyed), 89% reported that the overall experience of their child's life was positive. Ninety-eight percent of parents reported that their child enriched their life. Eighty-two precent felt that their child had a positive impact on siblings. In relationship questions, 3% responded that their marriage dissolved and 68% reported a positive effect on their relationship.

Most parents met with a specialized health care provider (63%) who helped them but 37%  of those who chose clinical interventions report feeling judged. Upon receiving a diagnosis of trisomy 13-18, parents report being told by their physicians and geneticists that children with these conditions are incompatible with life (87%), that their lives will be full of suffering (57%), that their child will be a vegetable (50%). They report they were told that their families would suffer (23%). Conversely, 60% report being told that their child would have a short but meaningful life, that their child could live many years (43%), or that their child could enrich their lives (16%).

Although most parents describe their child as having significant neurodevelopment disabilities, almost all report that their child has had a positive impact on their lives and that their child is happy. When children died, parents viewed their lives as valuable. Financial challenges were present however, as was the report that children with t13-18 experience more pain than other children.

Even among this cohort, parent decision making varied from full clinical interventions to comfort care and many in-between the two endpoints. Approximately the same percentage of children in the full intervention group and the comfort care group died before hospital discharge and before three months. A slightly higher percentage in the full intervention group survived to one year.

The results suggest that the parental experience of having a child with t13-18 differs in several areas from the conventional view in the medical community. Families report stronger relationships instead of weaker ones. They report happy children instead of suffering children. They report communication and understanding with their children instead of finding their children to be vegetables. Often, quality of life becomes a determining factor in choosing the level of clinical interventions for these children. This is a subjective area and considering the differences in how parents and health care providers view these children, effective communication between parents and physicians is vital. The parents input and wishes must be considered.

The authors conclude that "Parents of children newly diagnosed with t13-18 who become integrated with social networks may acquire views, hopes, and expectations that are incongruous to some of those held by clinicians they may encounter. Providers should be aware of the experience of those families represented in this article. When parents request medical interventions. it may be because of what they have learned in their social networks."

Full text article:

Additional summary:

Wednesday, March 5, 2014

Not Alone

When we received Julia's diagnosis of trisomy 18, we did not know anyone who had experienced this. We did not know where to turn. This was 3 years ago. In that short time, trisomy communities across the US and the world have become much more visible and accessible.

Sometimes families facing this diagnosis in their unborn child or newborn child are not ready to connect with other families. It is such an overwhelming diagnosis and we all process the information at our own pace. I remember finding the SOFT page and ordering the books on caring for a child with trisomy 18. I opened the books when they arrived and promptly put then away. I was not ready. Julia was 3 weeks old. Looking ahead by weeks, months, or years felt so beyond what I was capable of imagining. Yet these books and the SOFT website told me it was possible. And if it were possible, there must be other families out there living with this...

For months I was so focused on Julia's day to day needs that I did not seek out the trisomy community. I did not know I would find so many living children with trisomy 18. When a fellow trisomy mom found me and directed me to the active online communities, I was amazed. My hope swelled. We were not alone.

Since then I have had the opportunity to meet several trisomy families in person and to interact with hundreds online. Some, like us, have had to say goodbye to our little ones. Others have children who continue to defy the odds and write their own stories.

The parents on these boards are a tremendous resource of information about birth plans, living with trisomy 18/13, locating doctors/hospitals, in home nursing care, various therapies, medication questions, and grief support. Questions are welcome!

The trisomy diagnosis and journey are not easy. The journey can feel so very isolating. Joining together with other families, though, allows us to share the joys and the fears, to celebrate the milestones and to mourn the losses among friends who understand every step of the way. 

If you or someone you know is facing a rare trisomy diagnosis, here is a list of parent support groups I have found helpful:

Facebook Groups
 (these are closed/private groups that those with a diagnosis can be added to)
T18 Mommies 
Trisomy Families
Trisomy 18 Foundation Parents Connect
Trisomy Angel Parents

You can read stories about children with Trisomy 18/13 at the following sites:

Monday, March 3, 2014

Trisomy Awareness Month 2014

March has finally arrived! We are ready for spring although it is currently snowing here. :)
With the arrival of March we will renew our efforts to raise awareness for trisomy syndromes, particularly trisomy 18. 

Why March?

March is the third month and trisomy indicates three copies of a chromosome. 

What is trisomy?

Trisomy is three copies of a chromosome instead of the usual two.
A trisomy can occur with any of our 23 sets of chromosomes.
The most common trisomies are Trisomy 21 (Down Syndrome), then Trisomy 18 (Edwards Syndrome), and Trisomy 13 (Patau Syndrome).

How is trisomy diagnosed?

Trisomy can be diagnosed in utero by CVS or amniocentesis. 
Trisomy can also be detected with an accuracy of 97-99% in utero by less invasive blood tests such as MaterniT21 or Harmony.
Screening tests such as the first and second trimester blood screens can give you a risk ratio for two of the three most common trisomies (T18 and T21) but cannot give a diagnosis.
Markers of a specific trisomy may be identified on ultrasound but are also not definitively diagnostic. 
After birth, a blood test can be performed on a newborn baby suspected of trisomy to confirm the diagnosis if a diagnostic test was not performed in utero (as in my case).

After diagnosis, then what?

There are many statistics available on the survival rates of children born with various trisomies. For the rare trisomies (other than Down Syndrome), these statistics can be overwhelming and even devastating. The medical community is familiar with these statistics and with the many real challenges, physical and intellectual, associated with these diagnoses. What may be less familiar, though, is the idea that children born with T18 or T13 can live a life, even if short, full of hope, love, joy, and smiles, and that they also bring to those around them hope, love, joy, and smiles.

What kind of treatments, if any, are available?

At this time, there is no cure for trisomy 18/13. There are some physical characteristics that are common to these trisomies and each case must be addressed based on which of the anomalies or birth defects are present in each individual child. For example, children with trisomy 18 or 13 may require a feeding tube to receive adequate nourishment due to a cleft lip/palate or due to an inability to orally drink enough milk/formula to grow. Also, children with trisomy 18 or 13 are commonly born with various heart defects. In some cases, the heart defects are minor and can be managed with medications. In other cases, heart surgery may be needed, and there is growing evidence of the success of cardiac surgery in patients with t18/13 (to be discussed further in a subsequent post). These children may have digestive issues or recurrent infections that need addressing. Just as in the case of any child, especially a medically fragile child, you treat problems as they arise to the best of your and your medical team's ability. 

What about doctors? 

Finding physicians that will treat the expectant mom and her unborn child  and later her newborn child as patients and not as a diagnosis is imperative. Unfortunately, there are some physicians who will not want to perform a c-section or grant cardiac surgery based on the diagnosis alone. However, this is not at all true of all physicians. If a doctor is encountered that is not respectful or helpful in this journey, then keep searching. Each child (and their mom!) deserves kind, compassionate, effective medical care. Any less is unacceptable.

What about the fear of death and of suffering?

These fears are very real, and I don't want to minimize them. Many decisions regarding care will need to be made, and those are sometimes incredibly hard decisions. The reality is that life with or without a child trisomy can be marked by unforeseen challenges. In my experience, my daughter (with trisomy 18 and severe heart defects) experienced a lot of the same challenges as any baby (colic, gas, etc) as well as significant developmental delays that accompany t18. However, she also learned to smile and respond to her family members and to let us know when she did or did not like something. She made progress in therapy and brought us joy in ways we had never experienced. I am so grateful that we had a year together at home. Losing her was terribly sad, and we will always miss her. Her life was and is very precious. Our beautiful memories of her easily outweigh the fears and sadness we have faced. 

I don't know anyone else who has faced this. 

This was me, too. But this does not have to be a solitary journey. Many families have gone through this and they/we want to be there for anyone dealing with this diagnosis. I also have a post coming on this but want to list some good starting places: 

Facebook Groups (these are closed/private groups that those with a diagnosis can be added to)
T18 Mommies 
Trisomy Families

Thank you for joining us in our efforts to raise awareness of trisomy!