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

Friday, March 29, 2013

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."



Sunday, March 24, 2013

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.




Monday, March 18, 2013

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 Much of what is published in medical literature is out of date and inaccurate.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



Saturday, March 16, 2013

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.





Friday, March 15, 2013

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."


Wednesday, March 13, 2013

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

Sunday, March 10, 2013

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.




Monday, March 4, 2013

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!"


Friday, March 1, 2013

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!