SATB2-Associated Syndrome

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    From to Pain to Peace

    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.

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    Community Voices

    Brysen's Story: Leading to a Rare Diagnosis

    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.

    Adam Norko

    Moving Through Grief as a Dad of a Son With a Disability

    The warm glow of the morning sun makes the cool southwest breeze even more refreshing. It’s the same breeze that helps craft the clean waves crashing at the shoreline — consuming my gaze and quieting my thoughts. The morning surf-check is one of life’s delicacies. A day of clean waves is nothing short of a gift from God. As the saying goes: “ If you’re lucky enough to live near the sea, you’re lucky enough.” Unfortunately, the clean lines that surfers crave do not always march to shore. When the variables — wind, swell, tides, etc. — are not aligned, those clean lines become a mass of confusion; some days, hours, minutes more threatening than others. Those messy, threatening days do not dilute the fortune of living by the sea. The stormy moments offer a richness that would be lost if every day was nothing but clean lines. However, the richness of the variable sea does present challenges. Storms that must be endured, winds that force you to bear down tight. And when the storm passes, clean lines and salt water cures among the floating debris. I have done my best to engineer a life that offers the fortune of family life by the sea — embracing the clean lines, storms, and post-storm cleanse. A life rich with rewards. Similar to the rogue wave or sudden storm, life’s engineering does not always match the forecast. This is much like our journey parenting a child with a disability. As this journey continues, the richness matches the beauty of the sea — unfolding in calm breezes, clean waves and favorable tides. And unexpected storms. I am no expert in grief, but for me, disability implies missed expectations. And missed expectations imply grief. I avoid the idea of grief. Playing the part of internet psychologist, my guess is I avoid the idea of grief to fulfill my self-defined model of “strength” and in an effort to ignore the storms. How’s that working?   Unfortunately, as any surf forecaster will tell you, ignoring the storm does not change the foreboding path. Storms will arrive. And patterns will repeat. There is a cycle of grief. And this cycle repeats. Despite my best intentions to change the unchangeable, I recognize this cycle because we experience the raw emotions — on repeat. Denial Anger Bargaining Depression Acceptance We work through this grief cycle individually and as a family. We manage this cycle as best we can, and I’d like to believe we are improving with each repetition. We yearn towards the clean lines of acceptance, and we revel in the warm sun and cool breeze of our strong, loving family. The majority of our time is spent enjoying the amazing waves of love and happiness that parents of kids with disabilities know. But we need to be mindful of the forecast. We don’t know when the storms will blow through, and we don’t know how hard we will need to bear down to remain grounded, but be prepared. The storm may hit you, your spouse or your kids at varying times with varying intensity. We are all unique and life is unexpected, but we are also the support group that endures through difficult storms. It’s amazing what a well-timed hug or a good cry can do. We will help each other reach that post-storm cleanse. The salty tears always lead to clean lines. Stay open. Love with all you have. We want to hear your story. Become a Mighty contributor here . Thinkstock image by plusphoto/amanaimagesRF

    Mary Mecham

    What to Know If Your Child Is Diagnosed With SATB2 Syndrome

    It was my sixth time calling the doctor’s office that day. I knew he must have the results from my daughter’s genetic test, but he had been dragging his feet getting it to me, and my impatience was getting the best of me. Didn’t he understand that this one piece of paper was about to change my daughter’s life? After being on hold yet again, I heard the nurse on the other end of the line say, “Yes, yes, I am sending you the report now! Check your email in a few minutes.” So I waited, watching my inbox nonstop for the report that would alter all my priorities. For four years, I had watched my daughter fall further and further behind her peers in all areas: speech, gross motor, fine motor, cognitive functioning. While those around me said things like, “Well, maybe she is just a late bloomer,” my gut feeling was that something was wrong. I didn’t want to admit it, because I didn’t want to think that my sweet girl was anything but perfect. I needed answers! Was I just a bad mom, unable to teach my child to walk and talk? Or was there an underlying condition that would explain some of the mysteries surrounding Chelsea’s development? When the email finally popped up, I immediately opened it up and scanned for the answer to dozens of unanswered questions like “Why did Chelsea walk so late? Will she ever communicate with me? How can she ever learn to read if she can’t even say ‘mama?’” Then, there it was, a short line that made my heart stand still and simply read: “Diagnosis: SATB2-associated syndrome.” I couldn’t breathe for a minute. I read the same line about a dozen more times. All my previous gut feelings had been right, but what on earth was SATB2-associated syndrome? I had never heard of that before in the hundreds of hours I had spent combing the internet and genetic textbooks, searching for an explanation of Chelsea’s delays. I hungrily scanned the rest of the report, desperate for more answers. At the time, it was a brand new diagnosis, and most of the report said that though there was now a name for the disorder, very little was known about it. Chelsea and I would have to blaze our own trail to find answers. I knew if anyone would be able to beat the odds, it was Chelsea! Having been in intense therapy since 10 months old, she is no stranger to hard work and never gives up. When we met with the genetic counselor, we were told to not expect Chelsea to ever speak or communicate with us, be potty-trained, read or function beyond a 1- or 2-year-old level. We were also told that there were only two studies that mentioned this syndrome, and no one was researching it. Fast forward. It has been almost two years since that day, and our family treated the genetic counselor’s prognosis as a challenge to be overcome. Chelsea has some speech and sign, is potty-trained, can read some words and is loving life! Because of the inspirational team effort of many parents and an amazing geneticist, there are now studies being done on this syndrome, the parents have an incredible Facebook support group, a conference is being planned and, best of all, we are getting answers! I wished when Chelsea was first diagnosed that there was a manual to tell me about the disorder. While there still isn’t a manual, we do have some answers. Will my child ever communicate with me? As I meet more and more of the families with SAS kids, I am increasingly amazed at how these incredible kids are able to communicate! There are some kids who speak after multiple years of intense speech therapy, others that use sign language and still others that use an AAC device to communicate. Short answer: There is a huge range, but communication is absolutely possible. What are the associated symptoms? Lots of these kids have seizures (and most are non-convulsive), and many have early onset osteopenia/osteoporosis. There are usually some dental/ palate abnormalities, an intellectual impairment and very severe speech problems, nonverbal being most common. Also, our kids are frequently very thin, despite enormous appetites! There are also behavior problems that are common, particularly starting at ages 5-7. Motor planning is a struggle, so walking is usually delayed, as well as other gross and fine motor milestones. Just a warning: If you have an SAS child, everyone may be dazzled daily by their smile and bright spirit! These kids also have some of the most beautiful smiles, love being with family, enjoy giving lots of hugs and kisses and can be super silly! Is there a life expectancy? As far as we know, it is normal. The oldest person we know of right now is 34! But again, the diagnosis is very new and we don’t know yet for sure. My child has massive tantrums! Is that normal? Yes! Behavior problems are very common for our SAS kids. Some have responded well to therapies such as ABA (applied behavior analysis), others have not. The behaviors are often compared to “flipping a switch” – the child is calm and happy, then changes and has meltdowns. Will my child ever be potty-trained? There are many kids in our group who have potty-trained! Others have not been able to, and very much like communication, it depends on the child. In some ways our children are very similar, and yet they are each unique with different needs and abilities. How do I explain this to other people? Remember the acronym SATB2!S: Severe speech anomaliesA: Abnormalities of palateT: Tooth anomaliesB: Behavior/ Brain/ Bone Abnormalities2: Symptoms usually manifest by age 2 Are there resources available? Yes! We have an incredible geneticist who is working very hard to research this disorder, and launched an official website last year. We also have a Facebook support group for parents of an SAS child where we ask questions to compare symptoms, celebrate successes, understand the difficult days and, my favorite, SAS smiles, where we share good moments from our children’s days. We always love finding new families. It would be a lonely journey without the support of other families who know exactly how you are feeling. Search for SATB2 syndrome (2q33.1) and Glass syndrome on Facebook, and message us! This post originally appeared on Fun With SATB2 Associated Syndrome. We want to hear your story. Become a Mighty contributor here.

    Whitney Norko

    SATB2: I’m No Longer Scared to Be a Special Needs Parent

    I’ve been putting this off for months. What do I share? How much? When? Do I even want to? What will people say or think? Am I putting my son, Mack, at risk to be judged as soon as someone sees his photo, let alone meets him in person? We received a call the same week we closed on our first ever home. “Hi, Whitney. It’s the genetic counselor. We know what’s wrong with Mack.” It was just like any other call. I listened and asked as many questions as came to mind at the moment. I’ve learned that if you have someone “important” on the phone or in the room during an appointment, you ask every question then and there; that window of focused attention closes quickly — for you and the specialist. I asked, “Wait, spell it for me.” She said, “SATB2–associated syndrome,” which is also known as Glass syndrome. “OK, what does that mean?” I asked. She explained that this syndrome is new (meaning it’s just being detected through genetic blood test) within the last few years. She then said, “He’s one of 50 — in the world.” OK, one of 50. Got it. The genetic counselor continued: “It’s like this, we have a planet for you to land on, but we don’t know much about the planet.” At that moment, I felt a little confused. I was unsure of why I was being told all these important and life-changing things that we’ve waited on for two years over the phone. I was sure they would call and say (like they have so many times before) that they didn’t find anything. She assured us that it’s genetic but not hereditary. It didn’t come from my husband, Adam, or myself. It’s something new in Mack’s genetic makeup. It “just happened” for no reason. She also said he should have a normal life expectancy and should continue to learn. She didn’t know how slow or fast, but he should make progress. Then the counselor continued: “Your chance of having another baby with SATB2 is less than 1 percent. But if Mack (bare with me as she says the first statement that almost broke me) could ever get to a point where he could even have children, he would have a 50 percent chance of passing it on.” “Wait. What?” All that? I understand how his chances go up to 50 percent if he has children. But she just said, “If he could ever get to a point where he could even have children.” After that I told the genetic counselor I needed to make an appointment, so my husband and I can sit down with the doctor and talk about all of this. We hung up. I tried to fill Adam in from my notes scribbled down on my bank envelope. A few months before they ran the genetic exome sequencing, Adam and I were questioning ourselves. What are we looking for? We both agreed he’d been put under too much testing. But what’s too much? We wanted to just sit on things for a while and see how he progressed. “Maybe he’s fine and we are just making more out of it then it is.” But nothing explained all the missing adult teeth, the abnormal MRI brain scan, all the developmental delays. (He was being evaluated at 12 to 18 months at 3 years old, and his speech was at 3 to 6 months.) But we were over the blood tests, full body X-rays, MRI’s and appointments. We wondered if we were doing more harm than good. We gave it a few months. He was progressing — but slowly. There were times when we thought the progress almost stopped completely. Mack’s grandmothers encouraged us to make follow-ups. We did. I Googled and Googled and Googled. I wanted to give the geneticist a path to go on. I felt like I was one of the experts. I know Mack day to day, his symptoms, his personality. I found something called Angelman syndrome. They tested him. Negative. We did a few more. Negative. The geneticist decided with the teeth — no speech, delays, etc. She wanted to do a whole exome sequencing. Adam and I would need to be tested, too. The lab looked at all of our DNA to view side by side. We promised ourselves if this came back negative, we’d stop all the doctors for a year and just let Mack be Mack. We both agreed they wouldn’t find anything — the chances were 30 percent. Our whole life changed with that phone call. After the call, I updated our family by text. Yes, text. To tell the people who we love the most and love Mack the most: “We got a diagnosis for Mack. He has  SATB2 .” I’m not sure of what my thought process was. Maybe in my state of shock that was deemed OK. Maybe I wanted to play it down more than it was. I don’t know. I have no idea why I felt it was OK to text “my people” the most important information I’ve ever received in my life. But text it was. In that moment, I thought I turned into a “special needs parent” and Mack into a child with special needs. Would people start using different terms when they talked about Mack? It made me uneasy at first. We don’t know what his future really holds. Little did I know, special needs fit him to a T. He’s been a special kid for a long time now. He’s different, he’s exceptional, he’s extraordinary, he’s our savior, he’s our rock, he puts our whole being into perspective, he teaches us and he lights up our world. People will be better because of Mack. He will change people, and he will accomplish many things in his life. I was already a special needs parent — something I was always supposed to be. I’m not comfortable with the phrase “God only gives you what you can handle,” but I 100 percent agree that Mack chose us. We have the kids we are supposed to have. Every day he’s changing me and shaping me. I don’t want to know what the world would be like without him. Mack makes Adam and I better people, and he’s making his siblings better people — stronger and kinder. Mack is currently receiving five therapies a week. His preschool has been the best thing that could happen to him right now. The teachers are caring and understanding. They’re good with all my pamphlets and “mom talks” and are happy to have Mack as part of their class. He has an aide who helps him throughout the day, and Mack runs away from me (and to the trains) as soon as we arrive. Our therapists have been 100 percent there for us. Advocating and helping Mack get what he needs is a fight I thought I’d need to fight harder for, but our community has our back no matter what. They all want the best for Mack. I was scared to become a special needs parent. I had to let go of the future I imagined all three of my kids would have. I had to restart. I had to grieve. Maybe Mack will do all those things. Maybe he won’t. We will not limit him. We will push him — hard. He will be the best Mack he can be. We were meant to be his mom and dad, and I don’t want a life without him. I’m not scared anymore. I’m strong, I’m happy and I’m whole. I’m a parent, and I’m a special needs parent. I got everything I never knew I needed. A version of this post was originally published on Whitney Norko’s blog. We want to hear your story. Become a Mighty contributor here .