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!

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:

Support Organization for Trisomy

Trisomy 18 Foundation

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: 

SOFT (Support Organization for Trisomy)

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

T18 Mommies 

Trisomy Families

Hope for Trisomy

Trisomy 18 Foundation

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

Meet Guiliana

Today I would like to introduce you to Guiliana - or G, as she is affectionately called. G is two and a half and has mosaic trisomy 18. She is one brave, tough, strong little girl! She has overcome so much already -- heart surgery, gastrointestinal difficulties and surgeries, and bouts with RSV and pneumonia -- enough to challenge any kid! But she's still smiling! She eats orally (but has a back up g-tube just in case it's needed), is potty trained, is mobile, and is always stylish.  G's mom is a vital member of our trisomy community. She is full of great advice and offers support and encouragement to all. She is G's biggest cheerleader and advocate.  Jill and G -- we are so glad to know you! To catch up more with G, visit her blog at "Giuliana's Gift of Life."

Words

A fellow trisomy mom compiled photos of our kids with trisomy along with one word each of us would use to describe our little one.  Here is the one that includes Julia.

She is my gift.

Trisomy 18 Awareness Day

Today, 3/18, is Trisomy 18 Awareness Day! Here is some information I would like to share with you on this important day:

T - a Trisomy occurs when there are three copies of a particular chromosome instead of two. The addition of extra information can cause anomalies to develop during gestation. In trisomy 18, heart defects and kidney defects are very common. Other common characteristics include clenched hands, rocker bottom feet, small chin/jaw, and cognitive and developmental delays.

R - Raising awareness. Today, 3/18, is about raising awareness of trisomy 18. Before Julia was born, I did not know much at all about trisomy 18. Many health care professionals know very little about it as well. Educating the public and the health care profession can raise the access to and standard of care for those affected by trisomy.

I - Information. Having access to current, up-to-date information is crucial for parents and health care professionals when making treatment decisions about children with trisomy 18. Much of what is published in medical literature is out of date and inaccurate. We need to rely more on recent publications and access to families and physicians with experience with trisomy 18.

S - Special needs. Individuals with trisomy 18 absolutely will have additional needs. They may need assistive devices to eat, to have mobility, to communicate and more. They may need various procedures and therapies. The technology available today makes those things possible!

O - Outreach. The trisomy community offers wonderful support to families and can also be a resource for the medical community when it comes to trisomy 18. A list of support organizations and groups can be found here.

M - Me. Each person with trisomy 18 is an individual. As such, each person deserves the same rights as any other individual. The right to LIFE, liberty, and the pursuit of happiness.

Y - Years! Some individuals with trisomy 18 can live years! With increased access to treatments and support more of these precious children can live longer lives with their families who adore them.

18 - For my list of "18 Things You Should Know About Trisomy 18" click here.

My Julia, full trisomy 18, at age 9 months

Meet Lilly

Today I would like you to meet another Lilly. This Lilly, aka Little Firecracker, was born on July 4 -- just 5 months before Julia. Her blog, Pray for Lilly, was one of the first I found after Julia was born. Lilly was diagnosed prenatally with full trisomy 18. Although her parents were told they would not have much time together, Lilly lived for 17 months! Lilly's family had the opportunity to celebrate over 500 days together. They celebrated all of Lilly's milestones. They celebrated holidays and birthdays. They took lots of pictures. They sought the best care for Lilly and traveled out of state to get the heart surgeries Lilly needed. Lilly was a huge inspiration to me during Julia's life. Seeing her smiling face in so many photos gave me much comfort and hope. Like Julia, Lilly brought her family much joy!
Lilly went to heaven the night before Julia. Her mother and I like to imagine them there together-- our little two year olds running free and happy. Lilly's mom continues to blog about Lilly and their family. Their family continues to be a great encouragement to us in our journey. Their oldest daughter writes to Sydney and sends her sweet Julia remembrances. We hope to all meet in person someday! To learn more about Lilly's sweet life, please visit Pray for Lilly.

Meet Lily

Today I would like to introduce you to Lily! Lily has full trisomy 18 and is almost four years old! I had the wonderful opportunity to meet Lily and her family when Julia was 10 months old. (To read about that fun meeting click here.) Lily is a determined little girl! She has been determined to be mobile and is now working on crawling! She can do many things she was never "supposed" to do according to her doctors. She is surrounded at home by an older brother and two little sisters, so she has plenty of motivation to get moving! I always enjoy keeping up with how Lily is doing! To see more cute Lily photos and videos, visit Lily's blog at "I See Love."

Annie's Story

Meet Annie. Annie was diagnosed with full trisomy 13. She was (and is!) so very loved. Her parents fought for her care and advocated for her. Her life was cut short when doctors decided they --and not her parents-- knew what was best for Annie when she was brought to the ER at the age of 80 days in respiratory distress. Since then, Annie's mother, Barb, has been the trisomy community's greatest advocate. She has partnered with physicians and ethicists and parents to challenge and change the assumptions in medical care associated with children with trisomy 13 and 18. She is doing just that. One study at a time. One journal at a time. One doctor at a time, if that's what it takes.
Here is a video of Annie's story. Please watch.
http://www.youtube.com/watch?v=UqFkxT9BUJA&sns=em

Meet Grace

Hi, everyone. Today I invite you to meet Grace. Grace is her parents' first born child. Grace was diagnosed with trisomy 18 during the 21st week of pregnancy. Having a prenatal diagnosis sharply focuses the importance of the here and now. The time during pregnancy becomes even more precious. It may be the only physical time parents have with their little one. It is sacred time. Grace's parents cherished their pregnancy days. Her mom blogged. Her dad got a tattoo. They made memories like dressing Grace up for Halloween by painting her mom's cute pregnant belly. They took lots of maternity photos. They made sure to have 3D ultrasound pictures. They shared Grace and her story with friends and family. They chose her beautiful name, Grace Evelyn. Precious Grace was born still at 30 weeks. She was and is cherished. Beloved. Held. Missed. Her time on earth was much shorter than her family wanted, but her impact, her legacy, will be forever felt by all who are touched by her story. Her mom continues to blog about their journey. Please visit them and be touched by Grace's story at The Smith Family blog.

Meet Lachlan

Today I am pleased to introduce you to 2 and a half year old Lachlan! Lachlan has the mosaic form of Trisomy 18. This means that some of his cells have three copies of the 18th chromosome and some have two. Mosaic trisomy 18 occurs in less than 5% of t18 cases.
Lachlan lives with his family in Australia. He is a much loved little guy! He has a heart condition but is doing great without surgery. He received his g-tube for feedings a few months ago and has adjusted well to his new tube and his new blenderized diet. To read more about Lachlan and see his adorable photos, please visit his blog "Lachlan's Australian Trisomy 18 Journey."

Meet Aaron

As Trisomy Awareness Month continues, I would like to introduce you to some precious children with trisomy. First, here is Aaron. Aaron has full trisomy 18 and is now 32 months old! Aaron is typical in many ways-- he is a happy, smiley two year old. He is a curious boy and likes to try new things. He loves his eight older brothers and sisters, and they adore him. He keeps his mommy on her toes! Aaron also has challenges brought by his extra 18th chromosome. He has a heart condition but it has not required surgery. In his first months of life he had trouble breathing and was found to have a floppy airway, or tracheomalacia. For that a tracheostomy was performed and he was placed on a ventilator to provide the support he needs to breathe. He also is fed through a tube like many children with trisomy 18. These procedures have allowed Aaron to grow very well!  He is thriving and bringing joy to everyone around him. To read more about Aaron, please visit his blog which is perfectly named "Compatible with Joy!"

March is Trisomy Awareness Month

The arrival of March brings many things... St.Patrick's Day, Spring, Women's History Month, and, of particular interest to my family, Trisomy Awareness Month.

Three years ago I was not aware of trisomy syndromes. I could not have even told you that Down Syndrome is trisomy 21. However, I am now a trisomy mom. I would like to share with you some general facts about trisomy that I have learned over the last three years.

Trisomy -- three copies of a chromosome instead of the usual two -- can occur at any one of our 23 pairs of chromosomes. As each chromosome contains different specifications for our genetic makeup, having three copies of chromosome 13 (Patau Syndrome) results in a different syndrome than three copies of chromosome 21 (Down Syndrome). A syndrome is defined as "a group of symptoms that consistently occur together or a condition characterized by a set of associated symptoms." Some syndromes are characterized by heart problems and intestinal problems. Others are associated with kidney problems. Most have brain involvement that leads to some degree of intellectual disability. Even within each type of trisomy there are varying levels of severity. Some individuals with trisomy walk, some do not. Some need heart surgery, some do not. Some are verbal, some are not. Some require feeding tubes, some do not. The most common trisomy syndromes are trisomy 21, 18, and 13. There are children with trisomy 1, 2, 9, 14, 16 (and others) but they are much less common. Trisomy is a leading cause of early miscarriage although it may not often be diagnosed. The most common trisomies are the ones that are statistically most likely to go full term although there is still a high rate of miscarriage, stillbirth, and neonatal loss. Individuals with Trisomy 21 have quite a long life expectancy -- 60 years or more compared with a life expectancy in 1980 of 20-30 years. The other trisomies have much lower life expectancies but there are lots of individuals defying the odds.

Regardless of diagnosis, prognosis, and life expectancy, these lives are precious. They teach us about sacrifice, unconditional love, and unexpected joy.

Thank you for taking the time to learn more about trisomy. Check back as I will introduce you to several precious children with trisomy syndromes throughout the month!

Lemonade

Sydney wanted to have a lemonade stand in our yard all summer, so when our friends, the Edens, called and wanted to do one too, we immediately said yes! We all decided it would be a charity lemonade stand. Sydney and Isaac chose SOFT (Support Organization for Trisomy) in honor of Julia, and the Eden kids chose a camp for kids with cancer that their mom attended as a kid.
The Edens organized everything and we set up in our yard. After a slow first hour, business really picked up, and we sold out of all of the lemonade! The kids had a blast! We will definitely have to do this again! Thanks to Tamara, Emily, Brian, and Megan Eden, and to all of our friends and neighbors who stopped to share some lemonade with us!

T18 Awareness Videos

These videos were compiled by  fellow Trisomy 18 Moms in honor of Trisomy Awareness Month. Thank you, Jill and Kelly, for putting together such beautiful tributes! The videos show fragility, resilience, perseverance, life, hope, and most of all love.
Julia's photos appear at the 2:16 mark in the first video (above) and our family appears at the 1:20 mark in the second video (below).

Sydney's T18 Presentation

Sydney showing her T18 Awareness bracelet

Sydney wanted to do something special for Trisomy 18 Awareness Day. We talked with her teacher about having a presentation for her second grade class.  Sydney was very excited about it. Marc was also planning to be with Sydney at school that day anyway as a "Watch Dogs" Dad  (DOGS = Dads of Great Students). The three of us put together a power point presentation with facts about Trisomy 18, pictures of Julia, and memories of Julia. Sydney added props such as Julia's feeding syringes from when she was a newborn, her later bottles, a preemie outfit, and some of her favorite toys.

Sydney did an amazing job with her presentation.  Marc would introduce a slide, but Sydney would quickly jump in and explain the slide and add stories and information. She was a proud big sister talking about Julia, and I am one proud mom of both of my girls. Sydney's classmates were also very attentive and interactive. I was really impressed with all of these second graders. As Sydney and Marc talked about health issues associated with T18, one student shared that he had 2 cousins born with holes in their heart. Another student shared how her 3 year old cousin cannot walk yet and has to have a special stroller. Another shared that he has a g-tube to help him with eating. At the end, Sydney passed out the Trisomy 18 Awareness bracelets we had ordered for awareness day.  I am so appreciative of the support that Sydney receives from her teacher and classmates.

A huge thanks to you, Sydney, for having the courage and the love to share your sister's story with your class.  Julia could not have a more amazing big sister. We love you every day, Julia!

To see Sydney's powerpoint slides, click here.

18 Things You Should Know About Trisomy 18

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 3000 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.

6. Newer blood tests such as MaterniT21, Panorama, and Harmony may also be used to detect Trisomy 18 as early as 9 weeks. A positive test result should be followed up with CVS or amniocentesis for diagnosis. 

7. 90% of babies with trisomy 18 have a heart defect. More and more babies and children with T18 are undergoing heart surgery successfully. 

8. Girls with T18 are more likely to survive than boys with T18.

9. Some babies and children with T18 can eat orally although most 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 Heart...Forever