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 blog, you may have noticed the numerous tests that have been run in the past few months. Here's just a few of those tests:

Abdomen Ultrasound - to check for kidney tumors and/or Wilms' Tumor
Chest X-Ray - to check for heart abnormalities associated with SGBS
Spine X-Ray - to determine the level of scoliosis Jackson has
Urine Sample - to check for neuroblastoma
Blood Sample - to check for gonadoblastoma or hepatocellular carcinoma
Carrier Testing (Halle) - SGBS is X-linked recessive inherited with a slight possibility of what's called de novo mutation. This will help us determine exactly how Jackson got this syndrome.
Chromosome Microarray Testing - There was a slight deletion of chromosome 2 in Jackson's DNA. Daniel and I are now being tested to see if this deletion was inherited or not.

(If any of you are interested in more information specifically related to SGBS, this article has been the most helpful to us thus far.)

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.

Happy Father's Day!

To the best possible Dad there could ever be for Jackson...




We love you forever.

Mr. Social

There's really no better way to describe him. Jackson could eat, sleep and breathe people. It makes it easy on us when we want to go out because he never gets fussy. He is constantly entertained by all the people; people walking their dogs, people talking, people eating. It doesn't matter. I have a really hard time keeping him entertained during the day since it's just me and him at home. But when we're out, he's in heaven. He loves his stroller. He loves his car seat. I have to be careful not to say "bye bye" too early, or he will start heading for the door and pound on it until we leave. I have to have everything in hand before I even think of uttering the words.

So, yes, he is wildly social. Combine that with his explorer spirit, and quirky personality; he definitely keeps us on our toes!

The other day while I was sitting in the waiting room of Kid Therapy, Jackson's speech therapist approached me saying just how social he is; he waves and says hi to all the kids, is always smiling, and is the highlight of her day. I can't tell you how much I love to hear things like that! Then later, his occupational therapist told me the same thing, and shared a story with me of when Jackson was playing in the gym there. Another little boy climbed up a ramp and Jackson clapped for him when he got to the top, then climbed up the ramp himself! She said how much the other kids and therapists just love him and what a fun, sweet boy he is.

It has been such a rough road so far, hearing these things about Jackson bring the life back to me. It's as if every time I hear it, my lungs fill with air, my heart beats a little bit faster and my eyes see a little more clearly. The clouds break and life feels worth living again.

I love that he loves people. I love that he lights up when other kids come into the room. I love that he makes me laugh about a hundred times a day. I love that he makes himself laugh just as much. I love my boy.

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

I have been on a bit of a blogging hiatus. Between being sick, once with the stomach flu, then with a nasty respiratory virus, the words have just been sucked out of me.

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 (thanks Nana and Granddad)!

Someone takes after his Daddy a bit...



Jackson and 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.