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!

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.

Julia Slideshow

Here is the slideshow from Julia's memorial service.  Just to let you know -- it is eleven minutes long. :) The original was much longer, and it was an accomplishment to trim it to 11 minutes.  There is a soundtrack included as well in case your audio is turned down or off (like mine usually is).  We hope our love for her and our joy in being her family comes through loud and clear!

We love you, Julia!

Sick Again

A few members of our household have had the sniffles over the last few days. Until last night, Julia had managed to avoid it. She received two vaccines yesterday -- Prevnar and Hib -- which could also have contributed to the very icky cold she now has. My poor little baby. It's so tough to watch her cough and struggle to breathe and eat. We are certainly hoping and praying that we will be able to manage things st home. Please keep Julia in your prayers!

The Birthday Celebrations



I am finally getting around to posting about the birthday parties we had for Julia in the 10 days or so surrounding her monumental first birthday. We celebrated first with our family who were visiting at Thanksgiving. We decorated with balloons, streamers, and signs and a beautiful wreath Julia was given as a gift. The wreath was made by my sister and her kids and it is fabulous! Julia was dressed in her custom first birthday onesie (made by my talented cousin Kim) and a birthday hat. We enjoyed singing to her and eating some tasty cupcakes from Cupcakes Actually in Fairfax. She was given some great gifts which all of the kids were very willing to help open!

On Julia's actual birthday, she slept the day away after being awake all night. She apparently wanted to celebrate for the first 12 hours of her big day! We were able to wake her up for a chocolate birthday cake and a round of presents from our little family. She then went back to sleep!



A few days later we gathered with 75 of our closest friends at our home to celebrate Julia's big milestone. My brother and sister-in-law came down for the party, too, which was a great help. A very gifted neighbor made Julia's exquisite owl-themed birthday cake. Fortunately it was a beautiful day and the dozens of kids who came could run around the yard. Julia was wide awake for the entire party. We loved celebrating with the friends and neighbors who provided us so much support over the last year. They have been our family here in Virginia (and Maryland), and have helped with groceries and meals, provided child care for Julia and our older kids, kept up the yard work, given baby showers, and celebrated each step of Julia's first year with us. It was only right that we celebrate with these amazing friends. Thank you to everyone who made this birthday so special. We appreciate all of you! And we love you to pieces, Birthday Girl!

December

All of the birthday festivities were a lot of fun last week. Julia was a good sport during all of the photos, visitors, singing, etc. Pictures and details to follow soon!

Last week was a very emotional one for me. Emotions ranged from extreme joy to extreme sadness and everywhere in between. Most of the time I try really hard to live in the present and to appreciate Julia for the tiny miracle that she is, and most of the time I am successful. Last week, though, I had a very difficult time both reliving the events of a year ago and fearing for the future.

I am glad for a new month and a new week and a renewed outlook. I'm glad for holiday parties and ornament exchanges and cookie baking days to look forward to. This week we are back to our "routine" -- sleeping a little, juggling activities, avoiding the cold and rain as much as possible, keeping Julia's doctor and therapist appointments. Our house is beginning to look a little like Christmas. The tree in the front yard is covered in lights and looks beautiful. The Christmas tree inside is up and is mostly decorated. The stockings have been located but not yet hung. It is a very slow process to decorate in between times of Julia needing hands on attention. Also I'm pretty sure I did not personally put away the decorations last year, so I am still trying to locate a few things. It should all be done by December 23 when our guests should begin to arrive. The decorating and shopping (from home of course) are a nice distraction and have helped me to feel more positive. I think I am ready for some Christmas music!

Happy 1st Birthday, Julia!

Today is a day I did not expect.  Today is a day that seemed impossible.  Today is a day that I dared not prepare for.   Today, I am so thankful for you. Today, you, my sweet Julia, are one year old!!! Today is a day to celebrate!

Today we know that the many doctors we have seen were wrong. Today we know that we have made good decisions for you.  Today you are a very special part of our family.  Today is a day to celebrate!

Today we will eat cake.  Today we will blow out the candle. Today we will sing the birthday songs MANY times. Today we will take lots of pictures and videos.  Today we will open gifts.  Today is a day to celebrate!

Today we will have a family party at our house.  Today your Nana's church is having a party in your honor. Today our friends and family are sending birthday greetings from across the country. Today a big party is being planned for you for Saturday. Today is a day to celebrate!

We celebrate you, Julia! We thank God for each and every day with you! We love you so much precious daughter and much-adored baby sister! HAPPY, HAPPY 1ST BIRTHDAY!!!!

The Day Before and After

I am trying very hard to focus on the present this week instead of the events of a year ago. However, the memories are crowding my thoughts. I am also super tired after a few long nights, so efforts to direct my thoughts are much less effective. I hope in expressing some of these thoughts that I can focus on this week. 2011. Not 2010.

I was 37 weeks pregnant with Julia. My hospital bag had been packed for weeks due to concerns over placental insufficiency. I was in the perinatologists' office twice every week for monitoring and was warned each time that this might be the day for admission. We "knew" several things-- Julia had many heart problems, she wasn't growing well, she was breech, I had too much amniotic fluid, one of Julia's kidneys was abnormal, and one of the two umbilical arteries carrying nutrients to the placenta had closed. The doctors strongly suspected a chromosomal disorder and were "convinced" it was Down Syndrome we were dealing with (mostly due to a very small or absent nasal bone).

At this particular appointment, one year ago today, I had an amniocentesis performed to check for lung maturity. We were preparing for a delivery that week and wanted to administer steroids for the lungs if needed. After the test, Julia started having decelerations in her heart rate. We were admitted for delivery pending the amnio results. The results came back -- lungs not mature -- so we began steroid injections and scheduled delivery for the following day. Julia's heart rate decelerations continued on and off throughout the day and night. We were so afraid but ready to deliver.

We had one day of Julia's life when we did not know her diagnosis. The docs were pretty sure after examining her that she did not have Down Syndrome. The genetic tests for chromosomal abnormalities were performed. I was recovering from the c-section and was too sick to make it to the nicu to see Julia that day. I briefly saw her after delivery as they wheeled her to the nicu. Her little eyes were open and she looked right at me. I felt relief that she was here and intense anxiety over what was to come. And I felt love -- a love that felt both fierce and fragile. Marc spent most of that first day in the nicu with Julia. He kept me updated with pictures and with doctor consultations.

We received the diagnosis on Julia's second day. It was shortly after I visited her in the nicu for the first time. She was tiny and beautiful. The nurses made Julia a hat with a cute bow. Julia was breathing on her own -- no oxygen or bipap. Receiving the news was unimaginably difficult. Marc has described it as being hit in the face with a baseball bat. I had had a feeling for weeks that things were worse than we knew, and I feared we would not even get to bring Julia home with us. That was my sole remaining prayer at that point -- that we could bring her home and care for her. My intuition was both right and wrong. Julia's diagnosis was much worse than the docs suspected. But, we were able to bring her home and she has now been at home with us for 365 days!!! We were told she would live only a few days and we came home on hospice care. We stopped hospice care 5 months ago. Julia is here. She is a very real part of our family's life. She is the baby sister. I am holding her now and looking at her beautiful, pink face. She is contentedly taking her bottle. She is reaching out to me with her right hand. She is where she belongs. And now it's time to put away the tears and just celebrate.

Thanksgiving

Since moving to VA our Thanksgiving routine has changed. Previously we would drive from Maryland to Kentucky to be with Marc's extended family. That was when Syd was in preschool and we could travel more freely. When we moved here, Sydney began kindergarten. That first year she was sick, and we had to cancel our trip. We discovered how nice it could be to relax at home instead of being on the road. Last year I was pregnant with Julia and on bed rest and unable to travel. We enjoyed a quiet and delicious Thanksgiving with my mom and some dear friends in our area. This year we just are not up to making the 10 hour trip with Julia over a four day weekend. And then there's the traffic in and out of the DC area to consider. It is truly a nightmare on a holiday weekend. While I'm a bit sad we have missed out on Thanksgiving in Kentucky for a few years now, I realize this is just another part of our new normal. We have gladly made and will continue to make the necessary adjustments to our life with Julia. Hopefully we can make a trip to Kentucky next summer sometime when school is out, the roads are less crowded, and it is not flu season.

This year my sister and her kids and my mom and stepdad joined us for Thanksgiving.  It was so nice to be at home and to not feel rushed to visit lots of people on the big day.  We did, however, overdo things a little by cooking for way more than the five adults and four children (plus Grady and Julia) who would be eating Thanksgiving dinner.  Everything was delicious, though, and we are working our way through some yummy leftovers.  The kids had a blast playing with their cousins, and the weather here was in the 60s and sunny (usually it's pretty cold by this time of year). 

We have much to be thankful for this year.  Mostly we are thankful to have Julia here with us.  I do feel a bit like I imagine the settlers did at the first Thanksgiving -- thankful to have made it through a very difficult year.  Its more like marking the passage of this year than a celebration.  We of course celebrate each day we have with Julia.  The accumulation of a year's worth of days is weighty, though, and I have felt that weight alongside my thankfulness this holiday .  I want to focus on the good of this year, but I feel that the good in this year cannot be seen or valued without noting the struggles.  Hopefully these ramblings make some sense.

We ended our week of Thanksgiving fun with an early birthday celebration for Julia before everyone had to leave for home.  Julia was a good sport as we sang happy birthday twice, made her wear a party hat, and opened her presents!  Of course she had a lot of help from her siblings and cousins!  We look forward to celebrating Julia's amazing birthday all week!

Report Card Time

We had Julia's six month assessment with the early intervention program recently.  Her therapist and case coordinator were present.  It was the first time the case coordinator had seen Julia since our initial enrollment when she was four months old.  We know how much Julia has changed in that time, but she was blown away!  You have met several of the goals we set back in April!  We still have a few more months on their schedule for the other initial goals.  In April I had no idea what to expect.  The goals set seemed like a lifetime away.  Julia had not even smiled at that point! Now here we are and she is making definite and measurable gains! The therapist and case coordinator both think she would make even quicker gains with a few more pounds, and I hope we can work on that, too.  I am so very proud of my sweet Julia!

The therapist brought a chair and oversized tray for Julia to try to work on sitting and playing.  For so long we were told she was too small for any of the chairs, but she definitely is not too small! Although she was not too sure of the chair at first, I hope she can get used to it and enjoy more play time.  Many thanks to Julia's therapist for bringing this to us!

The Calm

After last week's sleepless nights, this week is much better. It turns out that Julia was very uncomfortable and not sleeping because she was very constipated. She was still eating okay, which is why we were not certain this was the cause all week. On Saturday while I was at dance rehearsals with Sydney, Julia's little body finally decided to get through this constipation. Marc had lots to clean up after the "explosion" and Julia felt MUCH better and slept. She has been feeling much better and sleeping much better!
Julia impressed her OT yesterday with her interactions, smiles, and responsiveness. She was extra cooperative but she let the OT know when she needed a break. As soon as the OT sat her in her lounger pillow she looked up at the therapist and smiled. It was great timing!
Julia has also been imitating us with hand motions and mouth motions this week. It is so encouraging to see her accomplish these little things! She surprises us constantly.
Today begins an 11 day stretch of house guests. The Illinois grandparents arrive today for the weekend and to attend the Nutcracker. Then the cousins and Alabama grandparents arrive for Thanksgiving week! The house may not be calm for the next week and a half but I hope Julia can remain her calm, sweet, pleasant self!

Sleepless

We have had several sleepless nights in the last week. Julia can sleep long stretches of 5-6 hours but she may not start that stretch until 2 or 3 AM. (Or later-- one night she was literally awake until 8 AM) Marc and I have been trying to share the wakeful hours so we at least each get some sleep.  On the nights when Julia is awake between 2 and 5, that does not work out so well.  And she is not a cry-it-out, self-soothing kind of baby.  (We also have never really been cry-it-out parents even with our other two.) Having her "regular" sleep pattern interrupted also disrupts her feeding which can lead to her being hungry and sleepy (fussy!) at the same time. Throw a little constipation and a couple of budding teeth into the mix and you have a rough set of days! I am hoping this all does not mean that she is again coming down with a cold, but we will wait and see.  Here's hoping that she will sleep well tonight and wake up ready to eat!