Friday, April 15, 2011

Olivia- 4/13/2011

**I apologize for such a mass update for so many friends, loved ones, and family members. I'm sorry to do it this way, but I can bring myself to tell this over and over. Up to this point it has been just a few family members have been informed. Again, I apologize for that.

When Olivia was born, her inability eat, rabid breathing, and her adorable, yet troublesome, squeaking were our first indicators that something wasn't quite right. Diagnosis: Laryngomalacia. It was manageable and would likely resolve on it's own. It posed some problems, but we managed.

She squeaked through the 11 months, RSV and hospitalization, numerous illness, and no less than 11 ear infections. When she was finally evaluated for tubes, her wonderful ENT did a scope to check things out before doing any procedure. Typically children with problems like hers needed to be intubated while under anesthesia and he wanted to be prepared. After he finished the scope, he sat silently for a long time before telling me "something isn't quite right." He was uncomfortable with what he was seeing and sent us to another specialist.

A few months later, another hospital stay, an MRI, an echocardiogram, swallow study, and gastric emptying study, we were sent home with Olivia tethered to an oxygen tank.

Over the last six months, we have adapted to her therapy schedules and goals, learned to balance our heavy load of supplies any time we go somewhere, and adjusted to the changes of her needs.

About 2 months ago, I had noticed that Olivia was having a harder time recovering when she would get upset or cry hard enough that her O2 sats would drop. Her sleeping patterns were being more inconsistent than normal. I called her specialist, Dr. A, and we were able to see her a few days later.

During the appointment, Dr. A asked the normal barrage of questions and I filled her in on the changes, what the problems were, and what areas Liv was having progress in. Dr. A sat quietly for a moment and then asked me, "Does Olivia look like you or your husband?" I stumbled over my answer, trying not to give an validity to her question before finally saying, "No, she doesn't." I felt the anxiety seize my heart and take hold. I knew where this was going.

"I want Olivia to see a geneticist," She said with the careful measured calm of a good doctor.
"I want to see if there is any underlying reason behind all of these problems."

Geneticist. Geneticist. I have worked with enough special needs kids in my life to know the significance of what seeing a geneticist means: syndrome.

That word screamed over and over inside my head as we stumbled out of her office and made our way home. This could mean a thousand different things, not one of which were appealing or satisfactory answers. But still, a part of me felt that this was right.

Three weeks ago, we met our genetic counselor, Sarah. She took our detailed medical histories and drew Olivia's blood for a microarray blood test. She arranged for us to meet with a geneticist, Dr. Gm from Seattle Children's to discuss the findings or do further testing if the microarray proved inconclusive.

Wednesday morning, Olivia and I went to the hospital to meet Dr. G. The moment he waked into the room, I knew. A wave of peace washed over me and I heard in my mind, "Yes, this man will set us on the right path for Olivia." I can count the number of times on one hand that I have had such a distinct spiritual confirmation like that.

Sarah and one other genetic counselor joined us in the room. Sarah sat next to me while the other played with my sweet Livi so that Dr. G could have my full attention. We discussed the problems that she has had and what things are being addressed.

"Well," he said, "you're daughter has all these problems for a reason. I have received her blood work, and we have found something."

I felt the blood drain from my face. "Okay," was all I could say.

I won't try to go into the detail of the conversation. I'm not sure that I heard most of it anyway. But this is what we know. Olivia has a very, very rare chromosomal disorder called 13q Deletion. As I understand it, at her 13th chromosome, there are breakpoints. Within those breakpoints are about 102 genes. That missing material of those genes is what is causing many of her problems. There are learning disabilities and developmental delays in addition to the various health problems. We aren't sure to what degree this will affect her, although she has already been in various therapies for several months already addressing these issues. Most notable, Olivia is missing the RB1 gene. Because of this specific deletion, Olivia is at an incredibly hi risk of retinoblastoma (eye cancer) bone tumors, and other related tumors. While the 13q deletion syndrome is not fatal, complications from it can be. We are being sent to see special teams in Seattle at an urgent status to start doing these scans. She will have to have these scans every 3 months for several years.

As we spoke, Dr. G said that while he was "mystified" by the breathing problems she seems to have, he was "completely amazed" that she was walking and that she can speak any words. He informed me that many of the cases he reviewed about this, many of the children were barely sitting up by themselves as 19 months and not walking or talking until 3 or 4 years old. He then said in his soft British accent, "I am even further amazed that your daughter is so beautiful. Most children with 13q have facial deformities."

It was at that point that I finally began to weep. I looked over at Olivia toddling around the room, her beloved puppy in one arm, happily opening and closing every cupboard she came across. I instantly felt overwhelmed with gratitude for the sweet tender mercies of her beauty, of her good natured demeanor, and her accomplishments.

As we waited for the elevator, Olivia spotted the giant fish tank the have on the peds floor and began pointing and making her "fish face." She put one hand on my tear stained cheek and pointed for me to look. I looked at her eyes, her excitement, and couldn't help but smile. She is still our same sweet Olivia. Nothing has changed within her. She is as happy as she ever has been. There is an overwhelming comfort and peace in that knowledge. We have a long, difficult journey ahead of us that is just getting started. So I am going to remember that knowledge, I am clinging to it.


Mike and Adrianne said...

Oh Julie, I have always admired you. It's been a long time since I've seen you, six years, but I still think about you and what a wonderful person you were to work with. Olivia is lucky to have you as a mom. I am so sorry about this challenge but like you said, thankful for the tender mercies Heavenly Father has blessed you with. I know, because I've seen you work so tenderly with children with disabilities, that you will be able to and help Olivia through anything, with grace and love. Hang in there.

The Beals said...

You have such great strength Julie! Your sweet little family is in our prayers. What a sweet little girl she is. Let us know if we can do anything to help you.

Nana said...

As you know Julie, the way is never what we expec and many question why. Ours is to endure and stay strong in our faith. One thing you can be sure of is that your family will need lots of love and support. Don't be afraid to let others in. Liv will bless many with her sweetness and spirit. I wish I could be closer to help. You were lways there for us with Dani. I love you and will be praying for all of you.

whitneyingram said...

I got a little choked up when you wrote about the doctor saying that she is so beautiful. Not cute or pretty, but beautiful. That is very sweet.

I don't know what you are going through, but I am sure it is hard. I hope you are able to find strength in your darker moments.

Ashley said...


"Now when Job’s three friends heard of all this evil that was come upon him, they came every one from his own mourn with him and to comfort him.

"So they sat down with him upon the ground aseven days and seven nights, and none spake a word unto him: for they saw that his grief was very great."
Job 2:11 & 13

I'll certainly keep you and your beautiful family in my prayers.

Natalie.Rob.Branson said...

Your sweet little one will be in our prayers and we hope that the team in seattle will give you answers and solutions your looking for. You are such an amazing woman, thank you for sharing your journey and example of trust with us. Love to all three of you!

Michelle said...

Sister, I love you and that beautiful little girl. She is perfect in every way and she is so lucky that she got the best mother in the world. Can't wait to come join you guys in WA. SDLY

Haley said...

Sister, I love you and that beautiful little girl. She is perfect in every way and she is so lucky that she got the best mother in the world. Can't wait to come join you guys in WA. SDLY

Beverly Draughon said...

Julie, I love you. Heavenly Father knew you and Brandon were the parents for your sweet, beautiful daughter. You will have the strength you need to raise this precious daughter of God. Love, Bev

Rachel said...

Mother to Mother- I truly feel for you. Reading this brought tears to my eyes... mainly the end where you mention that she is still your same sweet Olivia. These little children we are blessed to have are so amazing! We need them and learn so much more from them then they could ever learn from us. I love Olivia's excitement for life. It's obvious she was prepared for this and it almost seems the incidence with the fish tank was her way of saying "It's okay, Mom, I'm still me and we'll be okay." She is so precious and I can't wait to love on her! Our prayers are with all of you!

Kylene said...

You and your daughter are amazing. What a sweet lil' girl and what a wise mother.

Lamb said...

I can't help, but think that the Lord knows you so well that He sent you one of His chosen and most precious souls, Olivia for you to watch over. He trusts you and He knows of your strength and your unconditional love. Anyone else just wouldn't be up for the task, but you and your hubby are constantly positive and sure in your faith. I feel so blessed to know you and I pray for you and your family constantly. Thanks for keeping me updated and if you need anything please do not hesitate to ask. And if you need a laugh just go to my blog and watch obla-di obla-da again:) Love ya and miss ya!

Jodi said...

Our thoughts and prayers are with you and your sweet little one, Jules.

Amanda said...

Oh Julie, I am sorry to hear that you are having such a huge trial. I know that only someone as extremely amazing as you are could handle it. I am not just saying that. I truely think the world of you! Your Olivia sounds like such a sweetheart and she is definitely a precious Child of God. I will be thinking of you and praying for you as you go through this time. Much Love, Amanda and Kaden Waters