Friday, June 26, 2009


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.


Joy Howse said...

Thank you so much for sharing this journey with us. We are the ones that are blessed to have Jackson 'in' our lives. I am sure all this news will take time to process but what a gift he is to all those around him. May you find clarity for the future from these findings. And as always, keep sharing that infectious smile with the world!!

Holly Peterson said...

That's a great update. How amazing to think of the possibilities of not being a carrier. Your outlook on life is inspiring.

Noelle said...

Wow - I am so moved by this blog. You are all amazing and an absolute inspiration. A blog that actually teaches me. Thank you for sharing.xx

Askins Photography said...

Oh Halle,

This news about you not being a carrier brought me to tears. I still remember our conversation at the bakery about the possibility of having more children. I am thrilled for you. I always carry you and your family - especially Jackson close to my heart. I am sorry he had such a difficult time at the doctors the other day. He is really quite the trooper. I would have cried as well.

Meghan Elaine said...

Your strength is incredibly inspiring. Thank you for sharing . I love that Jackson knew that you needed a hug. That makes my heart melt.

shashank said...

Here is a link to more information about the genetics of Simpson Golabi Behmel Syndrome that was prepared by our genetic counselor and which has links to some useful resource for those dealing with this condition: There is also a number listed for anyone who wants to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA