Genetics

Daniel and I have been wanting to update you on recent news. We have been undergoing many different types of tests related to Jackson's syndrome. If you have been following our story, you may have noticed the numerous tests that have been run in the past few months.

On Monday, June 22nd, we went in to see Jackson's geneticist to go over the results of these tests. Here are the significant results that were found:

Abdomen Ultrasound - Jackson has a duplex left kidney. His geneticist has referred him to a local children's urologist.
Spine X-Ray - Jackson has what is called lumbar kyphosis. He is being referred to a local pediatric orthopedics doctor.

There were some other elevated results in the blood and urine samples, including the AFP, or Tumor Marker. He will be tested regularly (every 3-4 months) in order to monitor and track these levels, and catch any possible tumor growth early.

We also ran a couple of other tests involving genetics. Daniel and I both had the Chromosome Microarray testing done because Jackson showed a slight deletion on chromosome 2. Neither of us had this same deletion.

Finally, I went through Carrier testing for Simpson Golabi Behmel Syndrome (SGBS). As previously stated, SGBS is X-linked recessive inherited with a slight possibility of what's called de novo mutation. Ever since we found out about Jackson's diagnosis, we have believed that I was most likely a carrier for this syndrome, as that made the most sense to us. If you remember, on Jackson's 1st birthday I wrote:

Simpson Golabi Behmel Syndrome (SGBS) is an X-recessive syndrome. While I'm not entirely sure what this means, I know I'm the carrier of it. And this carries with it a heavy weight. I live each day knowing I gave my son a syndrome he has to live with the rest of his life, however short or long that life is. And I also live knowing he may be all I get, my one chance at biological children. I have a 25% chance of giving any other children this syndrome. I don't know if I can logically make that decision. We're not at that point yet, and honestly, it's too much for me to bear at this time.

On Monday, the geneticist went over my carrier testing results. She practically said it in passing. Daniel completely missed it, and I was staring at the piece of paper in disbelief: SUMMARY OF RESULTS: NEGATIVE. "Daniel," I said, "I'm not a carrier."

This began a week of trying to process this news, and reverse our thinking. I'm not entirely sure where we're at now. We're still a bit mind boggled.

I remember when I heard the news, I wanted to break down crying. The odds of us having a baby with SGBS are rare, extremely rare even. SGBS is classified as a very rare syndrome, with only 120 known cases in the world. But having a baby with SGBS as a result of a de novo mutation, even more rare. In that moment, I remember thinking what an incredible gift we have been given. What a beautiful, remarkable little boy. We have as much chance of having a child with SGBS as anyone in the world (without the gene). And for some reason, Jackson was given to us.

This also opens up the possibility of having other children. For nearly 15 months, we have been wondering at our ability to have other children, and other children with SGBS. We have considered IVF (In Vitro Fertilization) coupled with PGD (Preimplantation Genetic Diagnosis). SGBS is on the list of diseases that can be tested. That is no longer an issue.

As far as where we are now... We're, honestly, still attempting to wrap our heads around this news. For so long, we have believed one thing. We're not quite sure what to do with a completely different thing.

Jackson is an incredible little boy. So sweet. So fun. So happy. So loving. He's adventurous and smart and makes friends easier than I do. Yesterday I found myself, sitting with my hands covering my face, crying. In a few moments, I felt a hand on my shoulder. I looked up and there was Jackson, standing in front of me. I said, "Jackson, Mommy's sad." He then wrapped me in a bear hug. That's the perfectly wonderful little boy we have.

Thank you for sharing life with us.

Mike Colon {Featured Artist}

{Mike Colon} is an international photographer and educator specializing in digital wedding photography. He has been recognized by numerous publications worldwide, including the cover of Studio Photography & Design, Rangefinder Magazine, Grace Ormonde Wedding Style, Grace Ormonde Marriage, Ceremony Magazine, Modern Bride, The Knot, WPPI Monthly, "The Best of Wedding Photojournalism", and "The Best of Digital Wedding Photography”.

All magazines and publicity aside Mike is a man of faith who is happily married with 2 boys and twins on the way. Mike’s heart is to exhibit integrity and generosity in his business and personal life. He has not only transformed the world of wedding photography, but he has made a serious impact in the lives of the impoverished people of this world. Through Thirst Relief international he has helped save thousands of lives in Brazil by providing funds and publicity about their need for clean drinking water. He has a upcoming trip scheduled for Tanzania, Africa where he will bring a dozen photographers to deliver and install water filters while also do a Grace Ormonde photo shoot.

Check out and purchase his images of Florence, Italy at
{Mike’s Gallery} .

17 Months

Jackson went in for surgery on Wednesday and today you wouldn't even know it! We seriously can't believe how fast he bounces back... The surgeries were successful and we are now on the road to recovery. Phew. One more down.

Today Jackson is 17 months and I just can't believe it! Time feels so slow in some ways and then vanishes so quickly in others. We are loving this season with our boy - he is so fun and his personality so vibrant! He absolutely LOVES people and he cracks us up! I find myself laughing regularly at his crazy antics.

The other day when I got him up, this is what I found:


Talk about bedhead! I still find myself laughing when I see it!

I also wanted to take the time to thank a couple amazing people who have given us incredible gifts. Gifts, not only thoughtful, but unbelievably personal and creative! These people are seriously talented!

First, I want to thank Vanessa of Beloved Jane - an incredibly talented artist and friend! She made me this gorgeous sterling silver necklace stamped with the following:



I can't even tell you how much I adore this necklace! Vanessa, I am amazed by the heart and creativity of your work. Thank you for giving me such a priceless gift. You can also find her here.

And it doesn't end there! Awhile back, I was reading my friend Emery's blog - this post to be exact. While reading I noticed an adorable blanket given to her sweet boy Myer. I loved it! So I looked up the company that made it - Admiral Road. I felt inspired by their sweet and creative designs and so I emailed them to let them know. A few weeks later I received this in the mail:


Admiral Road read our story and were touched by it and put a personalized blanket in the mail for Jackson. And it couldn't have been a more perfect choice! Jackson's favorite stuffed animal is his Curious George (he sleeps with it every night) and he absolutely ADORES monkeys! I put it up on his wall over his crib for now as he loves to look at it... What a beautiful, thoughtful gift. This blanket will be treasured for years to come.

I am constantly amazed by the generosity and grace displayed by people I come across. You inspire me. You move me. You overwhelm me. I want to be more like you.

A Month of Firsts

We enjoyed our time in California - spent some quality time with family and good friends, hung out in some of our favorite Central Coast spots, celebrated my cousin's wedding, and even had our first overnight since Jackson was born (much needed)! We had a gift certificate for a night at the Cottage Inn in Pismo Beach and we were finally able to use it. We thoroughly enjoyed a mellow night away from our little man and were able to reconnect a bit.

A drummer like his Daddy...


Jackson and his friend, Stew...



We've been settling back into our schedule since we got back to Austin and are enjoying getting to explore our new home a bit. Jackson is doing so well in therapy that he may only need occupational therapy and physical therapy for a couple more months! He is progressing rapidly and learning so much these days. Speech therapy will be ongoing till he is much older, due to being born with a cleft. But he is learning to sign and even has a couple words under his belt ("more" and "go"). He nods in response to questions, waves "goodbye", blows kisses and gives hugs upon request. He is getting more and more fun these days - he is so social and independent.

Jackson's most recent thing is that he is standing up by himself and learning to walk. In fact, he did both for the first time on the same day! Crazy enough we were able to catch it all on video...

Jackson's First Time Standing and First Steps from Halle Whittington on Vimeo.

And yes, I am a tiny bit embarrassed about my laugh in this video... Oh well.

Tomorrow, Jackson is scheduled for another surgery. Originally he was scheduled for surgery on May 18th, but he woke up with a fever of 102.7 and a nasty cough. We called in and they said to bring him in anyway, and they would determine what to do. Because of the cough, the anesthesiologist decided to postpone surgery. He was able to get his new Mic-Key button G-tube in (because it didn't require anesthesia), and we're loving the convenience of it. He is also now able to wear two-piece outfits instead of onesies all the time - a total luxury. Because the Mic-Key has already been put in, Jackson will be getting his inguinal hernias repaired and will be getting circumcised. We aren't entirely sure what the recovery will be like, but we have been told to expect a rough first week. This little guy has been through so many surgeries for his age, he's pretty tough, but it's still hard every time to hand him over... and then get him back in a totally different condition. It's hard not being able to explain to him what is about to happen and prepare him for how he'll feel when he gets out.

We have so appreciated the loving support we have received from so many of you. And we are so grateful to those of you who have supported us through Jackson's Smile - you are truly making a difference in our life and in the lives of other children like Jackson.