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

Wednesday, September 28, 2011

Making Life Easier

Adjusting to life with Julia has required us to reevaluate our priorities and how we spend our time. In addition to caring for Julia, there is still laundry to be done, a house to clean, groceries to shop for, meals to cook, kids' activities to drive to and attend, schoolwork to review, and time to find to be together as a family. For the first 6 weeks after Julia was born we had family staying with us to provide extra help. Then we were pretty much on our own. Our neighbors pitched in a lot helping with Sydney and Isaac and getting them to school. We decided we also needed to get help in other areas. I started grocery shopping online and having groceries delivered (yay, Giant!). I found a meal preparation place (Dinner Done) that delivered to our area for free once a month. We order several meals at a time and stock our freezer. The food has been easy to prepare and so good. We are able to enjoy family dinners together most nights of the week with minimal preparation. Next we hired a sweet lady to clean our house every other week. She does an excellent job, and we love coming home to a clean house. Sydney and Isaac are big fans of this!
One area I have not been able to simplify as well as I had hoped is the kids' activities. Sydney's school hours shifted an hour later which already makes afternoons shorter for us. For two of Syd's activities we carpool with other families which is helpful for scheduling. However, having Syd gone 2-3 afternoons a week makes me really miss her! Isaac also has a sports class and is playing on a soccer team. Those two things are busy but will end in November. I will have to remember not to add any new activities after these end in November.
Several people have asked if we are eligible for in home nursing/respite care to help out with Julia. Our service coordinator from the county early intervention program gave us the phone number to begin the application process with the state and advised us that it could take two months or so to get approved. The idea of in home respite care has not appealed to me, so I put off the process. Once school began, though, I thought I would go ahead and apply just in case we needed it at some future point. Sounds logical, right? Well, it took over a month just to get the nurse and social worker here to evaluate Julia. Julia easily meets criteria for respite care and would have at least an LPN since we have oxygen in the home. During the evaluation, I learned that we would be responsible for finding our own nurse/agency and that once approved we would have to begin using the services immediately or lose them. Unfortunately, this is not what I was hoping for. On some level I know it could possibly be helpful to have some respite care. I don't think, though that the potential benefit outweighs my unease about anyone else caring for Julia. She's a tiny baby that needs lots of holding and soothing, and I want to be the one to do that. She certainly knows when I am the one holding her and responds well to me. Would Julia be comfortable with an occasional nurse? I have my doubts. I certainly would not leave Julia at home in the nurse's care. And I find the task of interviewing agencies and nurses daunting. I just don't think it's the right step to take right now. Or maybe ever.
For now we will continue to operate as we have for the last few months. We are keeping our eyes open to other things we could do to make life a bit easier. Suggestions welcome!


Sunday, September 25, 2011

First Cold of the Season

We have had a busy week. Last weekend the in-laws were visiting, and Marc was traveling. Then on Tuesday night, Julia started getting congested. By Wednesday morning she had a yucky cough, a runny nose, and a diminishing appetite. (No fever though, whew!) All of that makes for a restless but tired little baby. I rearranged all of Wednesday's activities to be able to keep Julia home and stay home with her all day-- very thankful for the carpool assistance! The next day Julia's congestion was a bit better, so we decided to keep the cardiology appointment that had taken me 7 weeks to get. (No new info there. Surgery also not recommended by the new doctor.) That was a long and exhausting appointment for all of us -- especially Julia. She needed rest, but that's so hard to get when you are so congested! When she would finally fall asleep she would breathe peacefully, and then she would get so mad trying to breathe through her nose while awake. On Friday we had another guest arrive -- a sweet lifelong friend of mine who came to meet little Julia. Julia was eating better that day but was still not quite herself. During the night she seemed to take a turn for the better. I noticed this because she began playing with her hands. She does this a lot, but while she felt bad she didn't do it much at all. Her appetite picked up and on Saturday she continued to feel a little better. Occasionally, though, all of the drainage would catch up to her and give her coughing fits. We were glad to have oxygen to help her get past these fits. Today she looks much better and is eating well. Maybe a little more sleep is in our future!
Today is a big day for Julia-- she is 300 days old!! Way to go, little girl!! We love you!

Sunday, September 18, 2011

Meeting the Extended Family



































Julia is a much loved little girl, especially by her family. While we live in Virginia, all of our family live out of state. Most live several states and many hours away. When Julia was born, many family members raced to Virginia to meet her. As time progressed, more and more family members have had the opportunity to visit. She has now been able to meet all of her grandparents and all of her great-grandparents. She has met all of my siblings and her first cousins on my side. Several second and third cousins as well as great aunts and uncles have made the trip to see her. In addition, many relatives who live near my hometown in Alabama met her while we were there. Having so many of our loved ones meet Julia has meant so much to us. She is obviously a very real part of our immediate family but now she is also very real to our extended family. We are thankful to all who have made the effort to meet our precious girl.

Saturday, September 17, 2011

The Challenge of Prenatal Diagnosis

The world of prenatal testing is very confusing, even to parents who are medical professionals. Most of the tests give you statistical odds of your baby having various disorders. The first trimester screening, nuchal translucency test, and second trimester screening all combine to tell you if you are low risk or high risk for these various disorders -- specifically chromosomal disorders such as trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome). For example, my risk from the second trimester screening with Julia came back as 1 in 2400 chance of Down Syndrome and 1 in 880 chance of Edwards syndrome (which she has). My risk was considered low based on these numbers alone. However, I was one of the unusual false negatives with these tests. There are MANY false positives, though. When a mom is given a high risk number for one of these conditions she must make many choices. The first choice is whether to have diagnostic tests performed such as chorionic villous sampling (CVS) or amniocentesis. Only these tests can truly diagnose your unborn child with a chromosomal disorder. The tests are not without risk. The tests carry a risk of miscarriage from 1 in 200-400. (This whole process makes you disdain all statistics.) Obstetricians, perinatologists, and genetic counselors all will STRONGLY encourage anyone at high risk to undergo one of these procedures. And high risk automatically includes any woman age 35 or older. Here are the problems with that advice: 1) the small but real risk of miscarriage and 2) what you will do if you get a positive result for one of the disorders.

In our situation, we originally declined the first and second trimester screening tests, just as we had with or first two pregnancies. We decided instead to have a detailed level 2 ultrasound at 18-20 weeks. When I was 13 weeks pregnant I caught parvovirus or Fifth's Disease that was making the rounds in our local elementary school. This virus is normally not harmful except in pregnancy. I began seeing a perinatologist (high risk OB) for specialized ultrasounds to determine if the baby was showing signs of parvo infection. At 17 weeks I received a level 2 ultrasound which I was told was unremarkable. No parvovirus and no other problems. At 21 weeks I had another level 2 ultrasound where problems were found that were unrelated to a parvovirus infection. The doctor matter of factly told me that he found a heart abnormality called a ventricular septal defect and a dilated left kidney. Because he found two problems, the likelihood of a chromosomal disorder greatly increased. He suggested this was likely Down syndrome and recommended an amniocentesis immediately. I said no. I knew there was a risk of miscarriage and I wanted to confer with Marc. The doctor reminded me that termination was only legal in our state until 24 weeks so I did not have a lot of time to decide. I was reeling from the news and felt appalled at the suggestion and told him I would not terminate. A few weeks later I had another ultrasound where the same doctor told me that my baby did not have a nasal bone. This finding highly correlates with Down syndrome, and he again recommended an amnio that day since our termination options were running out in Maryland. Apparently in New Jersey you have a little more time as my docs suggested we consider going there. In my reading I discovered that more than 90% of babies prenatally diagnosed with Down syndrome are terminated. I was both surprised and very sad. The docs strongly push you in that direction and you feel overwhelmed with fear, worry, and a huge sense of urgency. These same docs who once cared enough for my child to diligently scan for any signs of infection seemingly turned on us and repeatedly suggested termination. We did not pursue an amnio and switched doctors. The news and prognosis seemed to worsen with each scan. Julia's growth sharply declined. Her heart defects were found to be much more serious than a vsd. However, the doctors and ultrasound techs all focused in on the absent nasal bone and so assumed it was Down syndrome. No one thought it would be trisomy 18 instead. Trisomy 18 has an even higher abortion rate and is often defined by docs as "incompatible with life." Too often this phrase is the only thing docs know about t18. (Yes, survival rates are very low, but that label of incompatible with life should cease to apply once the baby is born and living.)

After repeatedly declining amniocentesis, we were followed closely by perinatologists and cardiologists until Julia was born. She received steroid injections to develop her lungs. We were monitored to determine the best time to deliver considering both her cardiac status and her size. I truly don't know if we would have been given the same level of care if we had a prenatal diagnosis of trisomy 18. For that reason I have no regrets about the decisions we made regarding prenatal testing. Many others in our situation do choose an amnio and are able to find supportive docs that will continue to monitor closely. I am just not sure that would have been the case for us given the several perinatologists and cardiologists we saw. Even when we thought we were facing a Down syndrome diagnosis, no one offered us any encouragement or directed us to any support groups or agencies. They were more than willing though to find us a late term abortion clinic. It was so disheartening. Parents in these situations who choose not to terminate still need support! We still need to know that our docs know that our decision to have this baby is a valid decision.

I recently read a blog post that beautifully expresses some of these same sentiments. Please check out this article written by a physician and mom to a precious boy with Down Syndrome. Thank you for reading.

Friday, September 16, 2011

School Begins!

























As of Monday, Sydney and Isaac are both back in school. Sydney is loving second grade! Isaac is in preschool and is glad to be back in class with all of his friends. I am super pleased with their teachers and am glad to see them excited about the new year. We enjoyed our summer with its lazy days, but the fall brings routine and activities and new opportunities for the kids. I was a bit sad about not being able to go to the pool a lot during the summer or visit all of the parks we enjoy. The hot, hot weather was too much for Julia. (And we all actually prefer the humid summers in small doses.). To make up for the lack of usual summer activity, the kids were able to participate in several summer camps -- soccer, gymnastics, dance, girl scouts -- and a VBS. I think they really enjoyed all of them. Now school is in full swing and so are the fall activities. Isaac is playing soccer for the first time, and Sydney is adding another dance class and piano. The cooler weather is even here! We are discovering yet another new normal, and I am excited about it. I'm thankful that Julia will be part of it all.

Monday, September 12, 2011

Fearful

Life with our sweet Julia has definitely been a roller coaster. There are so many questions and so few answers. During the first 3-4 months after Julia was born, every week brought episodes that would cause me to think that this was it. That she wouldn't make it. Living like that was exhausting, both emotionally and physically. Worrying constantly about Julia while still trying to provide a secure and loving environment for Sydney and Isaac was and is beyond hard. My children have seen me cry more times in a year than I hoped they would see in a lifetime. They are so very sweet, though, and are always trying to comfort me. Sydney and Isaac have always been aware that Julia is fragile and would not live as long as us. They do not miss a chance to love on her and to try and make her smile. They are sad at times, too, but they do a great job of loving and enjoying her as much as possible.
Beginning in late spring, Julia was much more stable than in the previous months. I was not fearful of everyday and could enjoy her and life more. She was smiling and interacting more. I even went away for 2 days to attend the wedding of a dear friend and left Julia home with my husband and in-laws. That felt brave, but she was doing well. We were then able to travel in July, and Julia did great. In the last few weeks, though, she has had a couple of episodes that have caused the fear to seep back into every day life. The first, you can read about here. The second happened a few days ago. Julia struggled to breathe for several hours. She was having short 3-4 second episodes of apnea and then she would fight to breathe again. This had happened before, but not for more than a minute or two. This time it was getting progressively worse and she was exhausted . We were on the verge of going to th ER. Then I remembered that we had some small oxygen tanks left over from hospice. We had never used it, and it had not crossed my mind until right then. (The cardiologist had told us that oxygen would not help her much, so I put it out of my mind.) We grabbed the oxygen and turned it on. She soon started looking much better and calmed down enough to wake up and see what we were doing. Between her waking up fully and calming down and the oxygen, her breathing returned slowly to normal. She has been breathing well since then without oxygen. We did, however, have a much larger oxygen tank plus a concentrator delivered the next day (yay for our very helpful pediatrician and nurse!).
Recent losses in the trisomy 18 community are also adding to my fear level. Six sweet little ones, ranging in ages from 6 weeks to 6 years, have passed away over the last three weeks. Each loss is tragic, and to have so many in small community in a short period of time is devastating. As parents of t18 kids we all know that every day is a miracle. Every day is more than we were told to expect. Because of that, everyday we try hard to keep them happy and well, and we celebrate every "little" milestone and month birthday. I know how many days old Julia is (287). I have kept a record/journal of every day of her life. Il just love her so much. We all do. I don't want to live in fear of the future. I want to enjoy Julia's life and my life with her to the full.

Thursday, September 8, 2011

Community

I have always been part of a community. Growing up, my community was my church. My family was very active in our church, and it was a constant in my life until I left home for college. Even now, through our journey with Julia, my home church in Alabama has journeyed with us. They have offered prayers, sent cards and emails and flowers, and overwhelmed us with love and support when I brought Julia to meet them.

College provided its own sort of community, especially at a small Christian university. We have friends all over the world that we met during those four years and some of them have walked this journey closely with us. Through this community churches in many states and countries know of Julia and pray for her.

Marc and I were newlyweds when we started graduate school in a new state. Our schools were in different cities, so our one shared community was our church. That church in Maryland adopted us and provided us with a real family. We found ourselves with friends from age 2 to age 92. What a blessing that group was to us during such an exciting yet stressful time in our lives. We still share beautiful relationships with friends we first met during that time.

Our second time living in Maryland (we are a military family and move every three-four years) we again found a church that gave us a family. Our small group in particular became extensions of our family as we shared weekly meals and discussions, spent holidays and birthdays together, celebrated births and accomplishments, and shared losses. We felt so blessed to be a part of such a church that we could not leave it even after we moved an hour south to Virginia. We just felt our time there was not finished and so we continued to be a part of it. When I ended up on bedrest with Julia and then when Julia was born with so many challenges, we found ourselves unable to make the drive very often. Our friends there continue to provide vital support to us through visits, phone calls, emails, shared meals, and prayers. We still share life together, even though now it is from across 4 states! They remain the first friends we long to share any news with -- both good and bad.

Finding a new church in Virginia has been challenging, in part because we have remained so attached to our last church. We have, though, found an amazing community in our neighborhood in Virginia. From the day we moved in over two years ago we were immediately welcomed by so many. Our kids have friends and playmates all around, and Marc and I have found wonderful friends as well. As soon as I was put on bedrest with Julia, our neighborhood friends organized two months worth of food. My immediate neighbors insisted on a baby shower brunch to encourage me while I was pregnant. Since then we have had more people than we could count -- all who lived within 3 minutes -- doing anything and everything they could to help out. We have a seemingly endless supply of babysitters and friends who want to be involved. One dear family has teenage sons who love to watch our kids and who have been praying for Julia and us since before she was born. (Love!) Our frequently visiting family members can attest to the truly unique neighborhood we find ourselves in. They know we are well cared for even though we live far from family.

Recently I found a new community of trisomy families online. Before that I knew of a few blogs written by trisomy families which were and are so helpful. The interactive groups on Facebook provide quick feedback, helpful advice, and an instant prayer chain when needed. They celebrate the little things and big things our amazing kids can do. They mourn together when there is a loss. I wish I had known about these support groups when Julia was born. I would have felt much less isolated. A fellow trisomy mom compiled a list of wonderful resources for trisomy families on her blog which can be found here. I hope I can help more trisomy families find and connect with these resources. We are not alone.

We are finally back to finding a church closer to home, but I know that we have been provided for more than we could imagine. The words to this song, written by the former pastor in our Maryland church, have proven so true for us.

"Christ has no body here but ours. No hands or feet here on earth but ours. Ours are the hands through which he works, in this world with kindness.

Ours are the eyes through which he looks. Ours are the feet on which he moves. Ours are the voices through which he speaks to this world with kindness.

Through our touch, our smile, our listening ear; embodied in us, Jesus is living here. Let us go now filled with his spirit into this world with kindness."


Tuesday, September 6, 2011

Sleepovers and Cookouts


Photos courtesy of Alex Thorne

This was the weekend of sleepovers. Sydney slept away from home for only the third time for a friend's birthday. Isaac wanted very much to go, too. He plays with these girls all the time and feels like he belongs. They are all really sweet to him. He was invited to stay if he wanted to, but we thought he should sleep st home since he's only four. We compromised and allowed him to stay at the girls' sleepover until "late." Marc then picked him up and the two of them had a boys sleepover. It involved wrestling, wearing matching clothes as pjs, and sleeping in Isaac's room. Isaac loved it. Since Sydney was sleeping away and the boys were having a sleepover, that left Julia and me to have our own sleepover. In true sleepover form, Julia did not want to waste time by actually sleeping. She and I stayed up until 5 AM! We then slept until 11. Just like a lot of sleepovers I remember.
Fortunately we were pretty well rested for the Labor Day weekend cookout later in the afternoon. Our neighbors get together for a cookout at every summer holiday. There are hamburgers, chips, desserts, drinks, folding chairs, wagons, and water toys. There are more kids every year and it is so heartwarming to see them all grow and enjoy being together. We brought Julia and enjoyed being there as a whole family with the friends who have been with us through this last year. Happy Labor Day! Summer is now at an end. The school bus comes tomorrow.

Saturday, September 3, 2011

Moving On Up

Now that Julia has hit the big 9 months, she is moving on up (at her own pace, of course) to bigger and better things. She now tips the scales at over 8 lbs. She is more than 22 inches long. She has graduated from preemie clothes to newborn clothes and now to 0-3 month clothes. She is now in size 1 diapers-- again up from preemie and newborn sizes. I'm glad for these reminders that she is growing.

Typical newborns grow so quickly and pass milestones so quickly that sometimes you don't realize they are milestones. Julia receives physical therapy and now occupational therapy services through our county's early intervention program every other week. Our therapists have helped me to see the little things that Julia does that are valuable in acquiring various motor skills. I remember doctors assessing things like tracking and grip strength with Sydney and Isaac. Julia's clenched fists assure her grip strength. She has developed her tracking skills slowly, first with her eyes and now with her head as well so that she can follow an object or person all around. Other "little things" that she can accomplish now are batting at toys (a precursor to reaching for and grasping objects), bringing her hands together and to midline (precursor to holding things), bringing toys to her mouth (precursor to self-feeding), and pushing against objects (like me) with her feet (precursor to weight bearing on her legs). We are working on strengthening Julia's core through sitting up more in supported positions. The therapists are experts at using the baby gear I have (such as a bumbo seat) and modifying it for Julia's use. We are also seeing small improvements in neck strength and head control when she lifts her head for a few seconds at a time. I have really appreciated having the therapists show me Julia's little milestones and celebrate them with me. A little bit of encouragement goes such a long way. I am very proud of my littlest one!

One of my favorite blogs is entitled "Enjoying the Small Things". The author does a beautiful job of being present everyday with her daughters and celebrating the little and big things in life. And one of her beautiful and amazing daughters has Down Syndrome. With Julia enjoying the small things is absolutely essential because the bigger things are fewer and further between. I have found it to be helpful with Sydney and Isaac, too, because they, too, grow and change in small ways every single day. Sydney's drawings get a bit more precise. Isaac's song lyrics get a little more accurate. They are learning and absorbing feedback and growing. I don't want to miss out on any of it.