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!

6 Days until 3 Years

In the first few days of Julia's life she was unable to take a bottle. We fed her a tiny bit at the time with 1ml syringes. After a few days she was able to take in more and more of these formula filled syringes at a time. And one day, we noticed that she was developing a suck reflex. This was huge for a baby with trisomy 18!!! At that time we decided to try a preemie bottle, and to our great surprise, she began to successfully feed from a bottle! The bottles contained tiny amounts at first but she did it!! She continued to slowly increase her intake throughout her sweet little life. I am very thankful for the responsiveness little Julia showed -- especially in those early days when we didn't even know we could have hope. She gave us that hope. And so much more.

MCM 2013: Team Julia

Marc and our friend, Josh, completed this year's Marine Corp Marathon! They ran in Julia's memory as part of Team Trisomy 18. It was a beautiful day--perfect for running the race (I'm told) and perfect for watching the race. The kids and I made signs and took the metro downtown to mile 18 to see Marc and Josh. Seeing the constant stream of runners along the Potomac River or running through the National Mall was really amazing. Thanks to modern technology, we were able to track Marc and know when he would be coming our way. We were all so excited to see them and to see that things were going so well! We are very proud of Marc (and Josh) for running for Julia! And we are thankful to so many who contributed to Team Trisomy 18! Team Julia raised $3,415 (well beyond our $2000 goal!), and the combined 11 members of Team Trisomy 18 raised over $20,000!

Team Trisomy 18: Marine Corp Marathon

My husband, Marc, is running in this year's Marine Corp Marathon in Washington DC. He will be running for Team Trisomy 18 in honor of and in memory of Julia. Please see the following link to learn more or to sponsor Marc as he runs!

http://www.trisomy18.org/goto/TeamJulia

Day 7: You Now

Over the last couple of months a few of those closest to me have remarked how well I seem to be doing handling life without Julia. This summer I could tell that my emotions were more stable and predictable day-to-day. I would still be sad but the overwhelming sadness was kept at bay. I could talk about Julia without as many tears. Then my grandmother died at the end of the summer. Since then I have noticed the numbness of fresh grief on most days. This grief is certainly for my dear grandmother but it also is for my daughter. Two great losses in less than two years. I struggle with not wanting to feel overwhelming sadness but also not wanting the numbness. This is also the time of year where my thoughts drift to first learning of Julia's heart condition and other anomalies while pregnant. I remember the first Maternal Fetal Medicine appointment where my doctor said (in a horribly insensitive way) that Julia may not make it. I then started bed rest which gave me an abundance of  time to think and pray and worry (justifiably). Fall seems to bring back the feelings of despair and helplessness that I experienced before (and after) Julia was born.  And the approaching holidays bring their own angst. Julia was born a few days after Thanksgiving in 2010 and she passed away 9 days before Christmas in 2011.  I struggle to celebrate the holidays for my other kids and to remember Julia's birthday and to deal with grief and the anniversary of her diagnosis and her passing.  Being thankful and feeling deprived at the same time. So, my feelings at this point in my journey are much like this post, a little all over the place. Better then sadder then numb then better and so on and so on. 

This post is part of Carly Marie's Capture Your Grief Photography Challenge in honor of Pregnancy and Infant Loss Awareness Month. To learn more please visit http://carlymarieprojectheal.com. 

Day 5: Memory

The memory that stands out most to me from Julia's life is the day she smiled for the first time. I have written about it a few times here already! :) She was nearly four and a half months old at the time. A newborn typically smiles by about 6 weeks, so 4.5 months was a long wait! When parents are given the very difficult news that their child has trisomy 18, many of them are told that their child, if they survive, will never be able to smile or interact with you. We knew well before 4.5 months that Julia could interact with us in her own way, but we were desperate to see her smile. On that blessed Sunday in April, she smiled the most amazing smile. And she smiled over and over again as we surrounded her and celebrated. Smiles of joy, of comfort, of hope, of love. Best day ever. 

This post is part of Carly Marie's Capture Your Grief Photography Challenge in honor of Pregnancy and Infant Loss Awareness Month. To learn more please visit http://carlymarieprojectheal.com. 

Day 4: Legacy

One of Julia's legacies to me is knowing that every day is a gift. Because I knew I would have limited time with Julia, every day had to count. When she was diagnosed with trisomy 18 in addition to a hypoplastic left heart, we were told she would probably only live a couple of days. Those first 2-3 days we tried to stay awake all the time to be with her every moment possible. She certainly outlived that prediction but we never knew when her little heart would just wear out and quit. It happened 382 days after she was born, which is infinitely better than the 2-3 we were told to expect.

I attended church camp most summers until I finished high school and was a camp counselor even into my college years. One particular camp counselor during my high school years would tell us that every day we were given 24 pieces of treasure. He said we should think about how we wanted to spend that treasure and how to use it wisely. With Julia, I knew that those 24 pieces of treasure given to me everyday for 382 days were priceless. Our family worked hard to make each of those days count -- not just for Julia but for all of us together. 

Although I no longer feel the same sense of urgency in each day, I am aware that being with my family every day is a gift. 

This post is part of Carly Marie's Capture Your Grief Photography Challenge in honor of Pregnancy and Infant Loss Awareness Month. To learn more please visit http://carlymarieprojectheal.com. 

Day 2: Identity

My Julia was named after her maternal great-great grandmother, Julia Ann Elizabeth Ward. The name means "youth". Her middle name, Grace, was chosen after we learned that Julia would have some special challenges after she was born. Despite her challenges, we chose to see her as a precious gift, like grace from God.

Julia was born at 37 weeks and 3 days gestation. She weighed 5 lbs 1 oz and measured 18 inches long. Although she  seemed tiny, she was a very good size for a baby with trisomy 18! She was born with dark hair and dark eyes. She was beautiful! When she was born we knew she had critical heart issues, but we did not yet know about the trisomy 18 diagnosis. 

Although T18 was a part of Julia, to us it was not her true identity. Her true identity is that she was (and is) a beloved daughter and sister, a precious niece and granddaughter, a cherished member of our community, and a beautiful child of God.

This post is part of Carly Marie's Capture Your Grief Photography Challenge in honor of Pregnancy and Infant Loss Awareness Month. 

Illuminate Week 3

Grateful

The third week's Illuminate journal assignment was to describe something we are grateful for. The photo assignment was to take 100 steps at a time and then stop and compose a photo at the 100th step. I did that but also took a few extra photos that spoke to me. The first setting was Great Falls National Park and the second was Julia's cemetery. 

As a side note, I completed this workshop in the spring, which is why there are many references to the changing of seasons from winter to spring even though now we are in the summer months!

Sun shining through on rough, rocky waters. Great Falls National Park.

The sun still shines, even with clouds moving through.

A broken tree still pointing towards the sun.

A bare tree, waiting for spring.

These days I am grateful that spring has arrived. Even though winter's temperatures linger and the trees are still mostly bare, my calendar says it is spring. Spring brings us closer to the sun. Spring brings color. Spring brings hope. Spring brings new life. As powerful as death often feels, the arrival of spring reminds us that death does not have the last word.

The last two winters were so very long. Julia was born and diagnosed with trisomy 18 just before winter officially began in 2010. Julia passed away at the beginning of winter in 2011. This winter was much calmer but still a constant reminder of what I have too recently endured. When Julia was here with me in 2011, she really began to improve and become more aware as spring set in. I associate that time in her life as one of cautious hope. In the spring of last year, just months after losing Julia, I was expecting my rainbow, Cohen. His spring time arrival again brought me hope. And so now, this year, with spring officially here and new life emerging from the ground around me, I feel more hopeful. Less sad. Grateful for spring.

New life emerging.

Color and light surround her resting place.

*This post was originally created as an assignment for the Illuminate online photography course. For my week one post, click here. For week two, click here.

Illuminate 2013

As you may know, I love to take photographs. Especially of my children. I cannot express strongly enough how thankful I am to have so many photos of Julia. When I read about an online photography class just for moms who have lost a child, I was immediately interested. The class is called Illuminate. This is a class about finding healing through photography, through creativity, and through community.  The class lasted 5 weeks and each participant created a blog to share her work. I wanted to share some of what I created during the class here.

Each week we were given a writing assignment and a photo assignment. In week one, we were asked to write a letter to our child and to compose a self-portrait. My letter to Julia and one of my self portraits are included here:

Dear Julia, 

You are the baby I prayed for. You are the daughter I desired. From day one of my pregnancy, and maybe even before, I knew somehow that this pregnancy would be special and that you would be special. Special in a way that was unexpected and different from the your older siblings. I knew. And yet I didn’t know. When I learned that you had heart and kidney anomalies and likely a chromosomal disorder, I was devastated. But I wanted you anyway. When they kept finding problems on ultrasound I wanted you anyway. I could not bring myself to go through with an amnio because I wanted you anyway. I now know that I was protecting both of us. Hearing your trisomy 18 diagnosis after you were born was terrible. But you were already here. If I had known earlier I would not have expected you to make it to birth. I would have been heartsick my entire pregnancy. Your docs may not have treated you. But we held on together. Against the odds.When I saw you in the nicu, I was not yet aware of your diagnosis. All I knew is that you were here and you were mine and I loved you so so much. Then came the diagnosis. Everything stood still. My first thought was that I would lose you. What a horrible thought and and an even worse feeling. We took you home to love and cherish you in your time with us. They said it would be 2-3 days. Those first few days we took hundreds of photos and held you close. Our family members traveled to meet you. I kept feeding you with that little syringe dropper, willing you to live. We sang to you, read to you, kissed you, rocked you, fed you, swaddled you, loved you. We tried to fill each day with a lifetime of love that we would not have a lifetime to give. And you. You held on. You started eating with a bottle. You became more alert. You started growing. Love. We experienced the depths of grief and the wonder of amazement at the same time. I gave my all to you and you gave your all back. We spent our days and nights together, close to one another. There were scary moments but they became less frequent. Then one day you smiled. They said you never would. But you did. Again and again. Medicine for my soul. Hope for my heart. We made many memories together. We traveled a little and experienced the beauty of nature in the cherry blossoms and the ocean. We would share more hard days and nights but your smiles always erased the heartache and alleviated the fears. I cared for you the best I could. We all did. If I could have found someone to have fixed your heart it would have been done. Instead we had to hope for the best. That’s what you gave us for your 382 days. Your very best. I hope I gave you my best, too. You inspired everyone around you but no one more than me. I love you so very much with everything I am and everything I will become.

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."

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!