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

Monday, March 18, 2019

18 Things to Know About Trisomy 18 - 2019 Update

March 18 is Trisomy 18 Awareness Day. In recognition of this day, I want share a list I compiled of "18 Things to Know about Trisomy 18".

  1. Trisomy 18 (T18) 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 (CVS) and amniocentesis. Non-invasive prenatal testing (NIPT) is available to screen for trisomy 18 in the first trimester of pregnancy. These tests should be confirmed by CVS or amniocentesis if a positive result is received.
  6. 90% of babies with trisomy 18 have a heart defect. There are babies and kids with T18 are successfully undergoing heart surgery.
  7. Girls with T18 are more likely to survive than boys with T18, but there are some strong survivors out there -- both boys and girls!
  8. Some babies and children with T18 can eat by mouth but most require a feeding tube.
  9. Every child with T18 is unique as T18 can affect the body in many different ways.
  10. Babies and children with trisomy 18 have beautiful smiles!
  11. The oldest living person with full trisomy 18 is currently 38 years old! Those with Mosaic T18 can live even longer.
  12. Babies and children with T18 experience significant physical and cognitive disabilities but can learn new skills and interact with others.
  13. Approximately 10% of babies born with T18 will reach their first birthday.
  14. Approximately 500 people, older than age 1, are living with Full Trisomy 18 & Trisomy 13 in the US.
  15. All babies and children with T18 are special, and 99% of families with a child living with trisomy 18 describe them as happy!
  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.

For more information on a diagnosis of T18 or living with T18, please visit www.trisomy.org.

Trisomy 18 Awareness Day 2019 - I Wish I Knew

What I Wish I Knew...

When my daughter was diagnosed with trisomy 18 when she was 1 day old, all I knew about trisomy 18 is that it meant she would die. Soon. It meant she wouldn't be eligible for the lifesaving but incredibly complicated heart surgeries we knew she would have needed even without the trisomy 18. I knew it meant no cure, no hope.

But I was wrong about the Hope part. We took Julia home at 2 days old, with gentle directions from the hospital staff to love her for the days we would have with her. They estimated no more than three days. We held her, spoke to her, sang to her, introduced her to family and friends, prayed for her, fed her, photographed her, loved her. We tried to pour a lifetime of love into every precious moment.

Hope began to seep in when Julia made it to about 2 weeks old, which was around the time of my 35th birthday. She began to tolerate more feedings and she became a little more alert and aware. Hope grew again when she was here to celebrate Christmas at the age of 4 weeks, just as her 6 year old sister prayed that she would. And then she rang in the New Year (2011) with us a week later and hope grew a little more.

Hope blossomed the day Julia first smiled. She was 4 months old, and joy grew along with hope that day. We soon visited the cherry blossoms in DC and the arrival of spring mirrored our growing hope. (Cherry blossom season is still my favorite time of year.) At 6 months, we sent out birthday announcements for her half year birthday. Hope.

Around 6 months is when I found (or was found by) other trisomy parents in a trisomy 18 facebook group. This was 8 years ago, and I didn't even think to look for such a group! I did not know there were many other families with children with trisomy 18 trying to find a way forward. Friends, this was Hope - in the form of community. We met other families online and in real life with children with trisomy 18. This was huge hope!

We enrolled Julia in occupational and physical therapy and set goals. Looking forward to any future before seemed daunting, but hope let us do that. We celebrated milestones and monthly birthdays. Family and friends came from all over the country to meet Julia and share in our life with her.

There were many days, too, when hope was challenged and hard to find. Appointments with cardiologists who confirmed for us that Julia was not a candidate for the complex surgeries her heart needed because her lungs were damaged by trying to compensate for her heart's difficulties. There were hard days when she did not feel well and struggled with a cold. Days without smiles. Those were the reminders of the reality of her condition. Still, we had been given so much more time than we could ever have expected at the time of her diagnosis.

We celebrated Julia's 1st birthday - a milestone reached by 10% of children born with trisomy 18 - with much hope and gratitude and surrounded by loved ones.

Julia passed away 16 days after her first birthday, suddenly, due to her heart condition. Although long expected, it was nevertheless a shock for us. We grieved and still grieve her loss. But the hope we had been given left an imprint. Now we know to look for hope when things seem dark. We try and share hope with others around us. Two months after Julia passed away, we met another little girl with trisomy 18 who showed us hope yet again. Hope does not erase the pain of loss or the challenges of living with a difficult diagnosis, but it does help us look for a way forward. And for us, it made all of the difference.

If you are facing a diagnosis of trisomy 18 or any of the many forms of trisomy, I recommend visiting the Support Organization for Trisomy Website at www.trisomy.org. There are now multiple facebook groups as well to offer information and support, including groups for those who have lost a child with trisomy.

Saturday, March 18, 2017

T18 Awareness Day 2017

It's Trisomy 18 Awareness Day! March is Trisomy Awareness Month and 3/18 - for 3 copies of chromosome 18 - is  for Trisomy 18 Awareness. In addition to the posts  "18 Things You Should Know about Trisomy 18" and "Why Trisomy Awareness Matters" from the last two T18 Awareness Days, this year I wanted to add ways to support families you may know or meet who are living with trisomy 18. 

3 Ways to Support Families Living with Trisomy 18:

1. Reach out. Check in. Call. Text. Visit (except during cold and flu season 😷). Caring for a loved one with a medically fragile condition such as trisomy 18 can be stressful and isolating.  Encouraging words and gestures are very appreciated.

2. Donate to organizations that support the trisomy 18 community such as SOFT (www.trisomy.org). SOFT is a tremendous resource for information about trisomy 18 and what to expect when caring for a child with trisomy 18. SOFT hosts an annual conference for families affected by trisomy which is the largest rare trisomy gathering worldwide. My family attended the conference in 2014, and we were fortunate to meet with families from this supportive community in person after having met online. We look forward to attending again in the future.

3. Support funding for Medicaid and oppose legislation that cuts Medicaid. Medicaid provides primary or secondary healthcare for people with disabilities, including trisomy 18. Cuts to Medicaid hurt many individuals and families, especially those with disabilities and medically fragile conditions.

Thank you for learning more about and supporting the T18 community!

Friday, March 18, 2016

Why Trisomy Awareness Matters

March is Trisomy Awareness Month, and today, 3/18, is Trisomy 18 awareness day. 

Trisomy 18, also called Edwards syndrome, is a chromosomal abnormality. 
A "trisomy" means that the baby has an extra chromosome in some or all of the body's cells. In the case of trisomy 18, the baby has three copies of chromosome 18. This can cause many of the baby's organs to develop in an abnormal way which leads to various health complications.  Trisomy 18 is the second most common type of trisomy syndrome, after trisomy 21 (Down syndrome). About 1 in every 5,000 babies is born with trisomy 18. As of now there is no cure for trisomy 18. Treatment for trisomy 18 consists of supportive medical care to provide the child with the best quality of life possible.
Since there is no cure and no way to prevent trisomy 18 from occurring, why do we seek to increase awareness? As a trisomy parent, I want to share three reasons why trisomy awareness matters.

First, awareness is important to show that we are not alone. Wherever you are as a trisomy parent or family member, someone else is walking that same path. Trisomy 18 is an overwhelming and little known diagnosis, and it is easy to feel isolated. Most of us do not know anyone else with this diagnosis when we receive it. Where do we turn for advice when even our doctors and nurses have seen only a handful of cases, if any? With increased awareness, we can find and turn to a community of people who have been there and who are there. My experience in having a child with trisomy 18 changed dramatically once I found the trisomy community. I was able to connect both in person and online with fellow trisomy parents and trisomy kids.  I found hope, understanding, and resources that bettered my daughter's life and my own. 

The second reason trisomy awareness matters is to increase medical support of the babies, children, and adults who are living with trisomy 18 as well as of the expectant mothers carrying a child with trisomy 18. Life expectancy for babies and children with trisomy 18 is low, with approximately 10% surviving to their first birthday. Because of this, interventions to extend life and improve chances at life such as cardiac surgery, may not be considered or offered. However, with increased knowledge and awareness, a case can be made to a surgeon or physician based on the experiences of other families in this situation. Alone, we struggle to be heard, but together, we have a voice. 

Finally, by raising awareness of trisomy, we can increase understanding of what it is like to live with a medically fragile child, such as those with trisomy 18.  I had no idea what having a medically fragile child really meant until my daughter was born with trisomy 18. There are the many doctor and therapy appointments, the increased worries about even a simple cold, the exhaustion from increased care needs, and the added strain of living with the unknown. However, even with these added difficulties, trisomy families are grateful for the time we have. We rejoice in little things and celebrate every hard earned milestone achieved. We strive to give our child and our entire family a life as full as possible in spite of our limitations. 

Awareness brings community and hope. Awareness brings better medical support. Awareness brings understanding. Thank you for reading this and for increasing awareness. 

For more information about trisomy 18 and for support, see the links below. 

Facebook Groups- these are closed groups that accept parents of a child affected by trisomy:
Rare Trisomy Parents
Trisomy Families
Trisomy Angel Parents 

Monday, November 30, 2015

Five Years

Five years ago you were born with a long list of anomalies and diagnoses. We waited for you, prepared for you, worried for you, cried for you, prayed for you, hoped for you, and loved you for your first 37 weeks. When you were finally born, all we could see was YOU, our beautiful daughter. All of those scary words fell away when we saw your face. Julia Grace, we are so glad you were born. Your life was and is a gift to us and to many others. We love and miss you. Happy 5th birthday. Sending you all of our love. 

Friday, October 16, 2015

Capture Your Grief Day 15

Wave of Light for International Pregnancy and Infant Loss Awareness Day

In honor of Julia and the many, many other precious ones gone too soon, we participated in this year's Wave of Light. All around the world at 7 PM candles were lit. As 7 PM arrived in each time zone, the wave of light moved forward. What a beautiful image. 

Monday, October 12, 2015

Capture Your Grief Day 12

Normalizing Grief

I never could have imagined living with this kind of grief before I was forced to. I didn't know what an "angelversary" was or realize that there can be so many triggers. I still struggle with telling new friends about Julia. Thinking about Julia, though, comes very easily and naturally to me. When taking family photos I am always very aware that she is not with us. Often, we make room for her with a photo or a butterfly or a stuffed bear or even just by leaving an empty space for her. She is loved and missed.