Noonan Syndrome

I realized while talking to a close friend that I have never posted about Sara's Noonan Syndrome diagnosis (one of those I had started, but never finished). February happens to be Noonan Syndrome Awareness month, as well as CHD Awareness month, so I think it's a great time to share.

Noonan Syndrome. Have you heard of it? I hadn't until Sara was born. Prenatally, we had a lot of genetic testing done with the sample that was collected from my amniocentesis. All the testing came back negative - they tested for all of the most common chromosome disorders as well as deletions and mutations. We were relieved in some ways, but also left to wonder what was causing the extra fluid around her lung and heart. The cardiologist noted that it wasn't because of her heart defects. 

After Sara was born (September 2014) a geneticist came by and assessed Sara in the NICU. He thought she had a few mild characteristics that are common in Noonan Syndrome (lower set ears, extra skin around her neck), so he suggested sending a sample of Sara's blood for that specific test. We decided to go ahead with it, and they warned us that the results could take a few weeks to get back.

3.5 months later....in December 2014 we found out that Sara tested positive for Noonan Syndrome (specifically a mutation on the PTPN11 gene). It was honestly good to have this diagnosis. This genetic mutation was the cause of her heart defects, and other problems. Since neither Reid, nor I, nor any of our boys have NS, we know that Sara's was caused sporadically.

Many people born with NS do well (with close medical treatment), and live pretty "normal" lives. Others have serious health issues that are a severe struggle for them, and their families. In Sara's case, her heart defects were more severe and complex than usually seen in NS. My heart goes out to all who are affected by NS, all who have lost someone to NS, and all who love someone who struggles with the symptoms of NS. xoxo

Some interesting facts about Noonan Syndrome:

- It is estimated that somewhere between 1 in 1,000-2,500 births are affected by Noonan Syndrome. 

- NS is characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity. 

- It is an autosomal dominant genetic disorder, meaning that someone with NS has a 50% chance of passing it on to each child. 

- It can occur by inheriting the gene from a parent with NS, or it can occur sporadically (as in Sara's case).

- It is often associated with Congenital Heart Defects, blood clotting problems, and short stature.

- Symptoms and signs vary from patient to patient, and it is often called a "hidden condition" as someone with NS may not have any obvious signs to an onlooker. 

- Most people affected by NS have a normal I.Q. Some may have mild intellectual disability.

Do you know anyone who is affected by Noonan Syndrome?

Hello There.

Hi there.

It's been awhile.

I've come to my computer many times this past year to write. About Sara, about the boys, about spiritual experiences, or about the woes of grief. I have many drafts and posts started, but not finished. For some reason, I just haven't had the motivation, and sometimes the courage, to complete any of them. So, here I go starting a new post.

Life really has been great since I last wrote. Filled with ups and downs, of course, but really, I cannot complain. We have been surviving, and even thriving. We are happy.

Grief continues to be an unpredictable, yet inevitable part of life. I've been going to a great counselor for the last few months, who is helping me work through PTSD. (That will probably need it's own post). I've seen a big change in my ability to cope. I am still excellent at holding things in (unintentionally) and letting them build up. But it seems my "down days" and emotional breakdowns are farther apart the more time that passes. It is interesting, because they are just as "down" and intense as ever, just don't occur as often.

I love my daughter, Sara, with all of my heart, and not a day goes by that I don't think about her. Sometimes my thoughts are happy and joyful, thinking of the time we got to spend with her here on earth, or thinking about what amazing things she is up to now. Other times, I just plain miss her and wish she was here, and wonder about how things would be different with a little girl around.

I still cannot express my gratitude adequately for all the support and love we've continued to receive from family and friends. Just please know how much it means to us.

This past fall, my incredibly talented friend, Megan, talked me into doing a last-minute family photo shoot. (Side Note: I've never put together outfits so fast, and without the ability to do some shopping beforehand! I know, I know...#firstworldprobs.) I wasn't really planning to do pics this year - it's hard to think of having a family picture without my whole family in it. We decided to try and include Sara by bringing her picture along. We also brought a letter "S" to include in some of the pics. I am so glad we did them! Here are some of my favorites:

Clark - Age 10

Jack - Age 8

Connor - Age 6

Rhett - Age 4

I'm so grateful for these awesome people!

xoxo Kristen

A Piece of My Heart

I decided to share this very special picture of our daughter, and little sister, without her breathing tube. Sara was born in such critical condition, that there was no time for me to hold her until after she was intubated and resuscitated. This picture means so much to me, since I had only seen her with tape covering her beautiful face until this time.

This was taken 5 months ago today, in the hour before our sweet Sara passed away. I love that I can see her face.

I miss your cute little nose baby girl.

CHD Awareness Week & Guest Post

Hi friends,

"February 7-14 is Congenital Heart Defect Awareness Week. To help raise awareness, spread knowledge, and share the effects of this disease, Jayme of The Paper Deer Photography Blog, Christie of Lemon Squeezy Home and Kierra of The Irvine Home are each sharing one story of a child with CHD every day to showcase the trials, triumphs, journey and heartache of this devastating disease. We invite you to read and share this project to further our voices. Thank you. #Facesof CHD"

I was invited by these lovely bloggers to share Sara's story and why CHD Awareness is important to me. 

Sara Kate is the Face of CHD today on Lemon Squeezy Home. Check it out HERE. Then, please share as you see fit. I'd love to reach as many people as possible to create awareness. 

xoxo

Kristen

P.S. Christie has some truly awesome tutorials, patterns, and projects on her blog. You'll probably want to do some exploring. :)

Grief is a Strange Thing

I have had many thoughts come to mind since I wrote last. Honestly, it has been hard to gather them enough to make a nice clean post. So, I decided to let that fly, and just write. Writing is therapeutic for me. 

This grief thing is rough.

I am noticing a pattern for me the last couple months. I will have a few "good" days in a row, or even a week. I am so grateful for these days. There was a time when I didn't think they'd ever come. During these "good" days, I am motivated to tackle projects, I have energy to play with my kids, make great dinners, and socialize. I smile a lot. I'm distracted.

Then comes the crash. I despise the crash. I have a good week or so of "sad" days. During the "sad" days, I am constantly fighting the sadness and the heartache that I feel. I struggle to keep the beautiful eternal plan of happiness in perspective (and it is OH so beautiful). On these days I have no motivation to get ready for the day, or leave the house, or socialize (definitely new for those who know me). I lose my appetite and have trouble sleeping. I cry a lot. Thankfully, I have been able to function enough during these times to take care of my family's basic needs.

The roller coaster is exhausting.

I try to be kind to myself, and recognize that this is normal. I have been given great advice from a couple friends who have dealt with losing a child, to "let yourself have sad days." It is liberating to give myself permission to just work through the emotions that I feel, rather than bottling them up.

I apologize if I've seemed aloof when you've talked to me, or when I'm in a group. My mind goes to new places these days. You haven't offended me, I still like you. :)

I'm learning about triggers. I'm learning that triggers can be totally unexpected. Dates and holidays have been unexpectedly rough. I apologize for the times I've not been able to control my emotions in front of you. I hope you know it's not you...it's me.

Thank you for being patient with me. Thank you for being gentle. Thank you for your kindness. Thank you for forgiving me. Thank you for loving me even when I'm a little crazy. I feel so lucky to have so many amazing and supportive people in my life. Thank you.

I'm realizing that I'm not just grieving the Sara I knew in my belly, or the Sara I knew in the NICU. I'm grieving the loss of 3 month old Sara, 2 yr old Sara, mother-daughter date Sara, and all of the milestones and experiences that would have been in our future together. I know we will be together again someday, and I am beyond grateful for that, but sometimes that just seems so far from now. This in-between time where I have to miss her just plain hurts. It literally makes my chest ache, and takes my breath away.

I don't mind talking about Sara, or about my grief. Thank you for asking about her, and please don't be afraid to ask me questions, or talk about things. Don't be afraid to make me cry. Sometimes I will, sometimes I won't. I'm not afraid to cry in front of you though. I'd rather talk about it, than pretend nothing happened, or that she didn't exist.

This quote has comforted me lately:

Elder Orson F. Whitney taught: “No pain that we suffer, no trial that we experience is wasted. It ministers to our education, to the development of such qualities as patience, faith, fortitude and humility. All that we suffer and all that we endure, especially when we endure it patiently, builds up our characters, purifies our hearts, expands our souls, and makes us more tender and charitable, more worthy to be called the children of God … and it is through sorrow and suffering, toil and tribulation, that we gain the education that we come here to acquire and which will make us more like our Father and Mother in heaven” (cited in Spencer W. Kimball, Faith Precedes the Miracle [1972], 98). 

I genuinely hope that I become a better person through all of this. I hope I become more like my Savior. I hope I am better able to help others who experience loss. 

I love Sara. I miss her more than words can express. I am so happy she is a part of my life, and I am happy to share her. I'm proud of her. I am her mother, and she is my daughter.