SATB2-Associated Syndrome

Hi, my name is aniharper. I'm here because my 3 year old has GDD and SATB2 associated syndrome. We are looking to hear from other families to understand the challenges in the future and how we can best support our son, and ourselves, moving forward.

#MightyTogether

Bartlesville, Oklahoma

In 2006, someone asked me what my biggest fear was. The answer came quickly because it was a fear that I had had the majority of my life – “Having a child that will have a life long dependency.”

Jet received his diagnosis of SATB2-associated syndrome in January 2017, he had just turned 9 years old. Before this date I had had hope. Hope that he would eventually talk. Hope that he would magically “blossom”. Hope that we had some sort of control in changing his future: if we take gluten out of his diet or if we do all the right therapies or if I just push him a little more here or there – then he will be typical like his brother.

But in January 2017 – I met my worst fear face-to-face and it scared the hell out of me. Hope and I broke up on that day, and it was not an easy break up.

Grieving your hopes is just like any other grief, it is painful. Like hella painful…

Letting go of dreams and desires for your child is devastating.

In order for me to personally accept my child for the unique individual he is and for me to accept my new future with this child and somehow be okay with it… I had to become someone new.

I had to dig deep and shed thoughts and belief systems and attitudes and entitlements; I even had to let go of friendships.

I had to plant new seeds and start new relationships (so thankful for my SASters), and read different books and think new thoughts.

I basically set fire to my life as it once was. Which in turn yielded a healthier version of myself. A version of me that was no longer focused on perfection. I no longer found my identity in my beliefs. I let go of the illusion of control that I thought I had on my life and my child. I discovered that I’m much stronger than I thought I was and the monsters under my bed weren’t so scary after all.

I can’t say that I did all of this intentionally because I didn’t. I think only an insane person would purposely torch their life.

But I can say, that I purposely walked hand-in-hand in with my pain. I sat with it. I acknowledged it. I argued with it. I reasoned with it. I begged it to go away, it wouldn’t. Pain and I became very comfortable with each other.

And I will say this, I’m fortunate to still be married. Pain isn’t easy on a marriage.

Pain is a teacher if you allow her to be. And pain has the ability to transform into peace if you let it. But, the transformation can not be rushed. It takes time.

So now here we are… 2021. And that 9-year-old is now a teenager.

Now… I still have my days. I still get sad. I still grieve. Peace transforms back into pain and we have a nice cuddle on a rainy day.

But then in a day or two, once pain and I have had some time together – she’ll transform back into peace.

For the first time in a very long time, I’m happy. (I’m also on anti-depressants and anxiety meds – just keeping it real). And I’m so very thankful that my 13-year-old monkey is mine to love for the rest of my life.

And my advice for all the new mamas that are just now beginning this journey, become comfortable with the pain. Get to know her. She will teach you new wonderful things. Let her transform you into something even more beautiful than you already are. And watch the pain, slowly – very slowly, morph into peace.

We were at Brysen’s two month appointment when her eyes suddenly crossed, right as her pediatrician walked into the room. Little did we know at the time, this began our journey that led us to where we are today: with a heart-breaking diagnosis.

We were referred to an Ophthalmologist and he had no immediate concerns. We continued to follow up. As we were approaching six months, we began to notice that Brysen wasn’t as strong as we thought she should be. I wasn’t too concerned, as I knew all kids develop differently. Another month went by, still no sitting. I thought maybe she should have her eyes re-evaluated. Still no concerns there. Time continued to pass and she still couldn’t sit on her on. She had very low muscle tone and I knew deep down there wouldn’t be progression any time soon. We continued working with her and started seeing neurology between seven and eight months old. He ordered a laundry list of blood tests that all came back normal. We also began physical therapy with Early Interventions around this time.

When she was about 10 months old, we noticed her becoming very fussy, which was not like her at all. She had always been so happy. Her three naps a day turned into her wanting to be in her crib, in the dark all the time. She was beginning to sleep about 20 hours a day. The doctors’ appointments and blood tests continued for a couple months.

I reached out to my cousin who is a pediatrician and she was very concerned. She posted on one of her blogs hoping to get some information to lead me in the right direction. In the meantime, I made another appointment with Brysen’s pediatrician. She came in the room and I broke down. I told her that something needed to be done because I knew something was just not right. We repeated more blood tests and she reached out to Brysen’s neurologist. I got a phone call from her the next day saying that her neurologist wanted to admit her. An MRI, EEG, and MORE labs were done. We were discharged a few days later with no answers and lots of tears, yet again.

I had no idea where to turn to. My 13 month old wasn’t sitting, wasn’t crawling, wasn’t making any sounds, and slept over 20 hours a day. Although we had had too many appointments and tests to count, I felt as if I was alone and no one was listening.

Someone who was doing her fellowship in genetics reached out to my cousin and wanted us to be seen right away. I was told to make the first available appointment (which was 4 months out) and she would move me once she saw my name. I received a phone call a few hours later and was seen the very next week.

The first genetics appointment was basically an extensive family history taking and assessment of Brysen. We started with some basic genetic tests. Those results came back normal. The next step was a test called whole exome sequencing which is the most comprehensive genetic test available.

On September 13, 2018, the three of us (Brysen, Caige and I) went in to have the whole exome sequencing done.

The 13 weeks it took for the test to come back was the longest 13 weeks of my life. We continued physical therapy twice a month and although Brysen was progressing more during that time than she had been all along, she still wasn’t where she should have been. During the last month leading up to us getting the results, she started crawling, started pulling to stand, and started babbling.

On December 18, 2018, I received the most devastating phone call. The genetics counselor said to me “I think we have figured out what is wrong with Brysen.” My heart sank. She told me that Brysen had a mutation in the SATB2 gene and was given the diagnosis SATB2 Associated Syndrome. I was told that it was extremely rare and that there are only 100 other confirmed cases in the world. I was told that it is characterized by intellectual delays, behavioral problems, dental issues, palate anomalies, low muscle tone, feeding difficulties, possible seizures, and the most common: speech delay or absence. I was told that despite all of these difficulties, children with SAS are normally very happy and outgoing.

I suddenly became the mom to a special needs child and my world flipped upside down.

The week following the news was filled with lots of emotions and lots of tears. I was angry, I was sad, I was devastated. Devastated that my daughter may never be able to talk. Devastated that my daughter may never be able to get married or have kids. I ask myself over and over why this happened to her. There are only 100 other confirmed cases in the WORLD, and she is now one of them. Why her?! HOW her?! How does this happen? It has to be a dream. She does not deserve this.

With everything that our family has been through and will go through in the days to come, I do know one thing; we will give Brysen the absolute best life possible and will tackle all challenges that come our way. We will treat her as if she is just as strong as everyone else. We will continue to push her and cheer her on. People tell us that she is lucky to have us as parents but I am for sure that we are the lucky ones.