‘WHAT the heck?’ The test came back positive. He had the full-mutation, and I was the carrier.’: Special needs mom shares son’s journey to thriving with Fragile X Syndrome

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“Fall semester 2001, Cal State Long Beach, is where we will begin. I was in college full-time and working a couple part-time jobs. One Friday evening my friend, Karla, who was in town visiting for days, called and made the decision that we were going out tonight. I was fresh off a break-up with my boyfriend of six months and not in the going out mood. I suggested we stay in, get some food, rent a movie and catch up. Karla being the amazing friend that she is, knew I needed to get out and wasn’t going for it.

We settled on heading to Rock Bottom, a restaurant/bar by day, night club by night, at the Irvine Spectrum. We walked in, had a look around and headed upstairs where some spotted some ‘fine’ guys playing pool. One in particular caught my eye. He was casually dressed in jeans, a white t-shirt and white sneakers. It wasn’t long before we were dancing the night away.

Who knew a chance encounter would turn into a twenty-year and counting relationship. Even more amazing, two people from opposite sides of the country with little common experience could build a life together. We were pretty much inseparable after our first date. Things moved pretty quickly. We moved in together while I finished college. A year after graduation, we were married and one month before our first anniversary, we were pregnant.

Young interracial couple smile for a photo together in very 90s outfits
Courtesy of Jen Newsome
Newlyweds smile at each other while dancing at their wedding reception
Courtesy of Jen Newsome

This was super exciting news to everyone around us, but this was not part of my plan!! Being the oldest sibling of a large family (7 kids to be exact), a newlywed, and starting a new career in Human Resources, I was a PLANNER! I imagined I would be much further along in my career, we would purchase a home and do some traveling before we started a family. So, I went into freak-out mode and started a spreadsheet on how this would all work! My husband, in his typical calm demeanor, said it would all work out. He was excited and nervous at the same time.

Okay, time to plan for the baby! I had a smooth pregnancy and it was the perfect balance of hormones, too! My husband had never seen me so calm and happy! I craved bean and cheese burritos and Cheetos and had a strong aversion to popcorn. Work was going well and I told my boss I would be right back after my 6-week maternity leave. I went into work on Friday, March 10, 2007, and told the boss I would see her on Monday (my due date wasn’t for another couple weeks and I had a lot to get prepared for the temp), but this baby had other plans.

Pregnant woman smiles for a photo in a shirt that partially conceals her baby bump
Courtesy of Jen Newsome

Sunday, March 11th, my hubby and I spent the day shopping at Target, Home Depot and Babies-R-Us when he noticed I was unusually cranky. We got into an argument and decided to just call it a day. We got into bed and my hubby put on the pregnancy belly speaker and told his son, ‘Son, it’s time to come out so your moms not so uncomfortable!’ Literally about 20 minutes later I told him, I think I peed myself. I got up and had a big gush. I immediately called my mom and said, ‘I think my water just broke!’ The excitement began!!! My hubby jumped into the shower (yes, I said that right, he was a nervous wreck!) and soon we were off to the hospital.

I was managing the pain with a yoga ball and when they asked if I wanted the epidural, I didn’t think twice!! Heck YES! I was all ready to go and ready for delivery the next morning around 6 a.m., but my doctor was assisting another delivery so they gave me something to slow things down. Meanwhile, my baby’s head was in the birth canal. This brought me some anxiety as I was waiting and worrying this wasn’t good for his head for so long. Almost 3 hours went by until the doctor was finally available to deliver. He popped out in just 10 minutes or so. Wow, I had no idea how breathtaking and beautiful this moment would be. He was perfect! I was in love!! Audric was his name, meaning ‘old wise ruler.’ My hubby said it was the closest he’s ever felt to God.

First time parents hold their newborn son in the hospital
Courtesy of Jen Newsome
Courtesy of Jen Newsome

There were a few little things that needed medical attention early on like jaundice, torticollis and strabismus. Other than that, he was a perfect and healthy baby boy! As he was approaching his first birthday, we started noticing some odd behaviors like the way he would scoot on his back and some gross motor delays. I mentioned to his pediatrician I felt something was ‘off,’ but I was dismissed as a ‘first time paranoid mom.’

Young married couple and first time parents hold their newborn son outside with a pool behind them
Courtesy of Jen Newsome

I hated feeling like something was wrong and ignoring it because of what family and medical professionals were telling me. Was I looking for something to be wrong? Did I bring this on myself? Did I drink that glass of wine too soon? Was it because that damn delivery doctor left him in the birth canal too long? I started blaming myself and this led to so much frustration and robbed me of these precious years.

We started to just accept this was just the ‘toddler stage,’ terrible 2’s and 3’s, and just kept living our lives. My hubby started his career in law enforcement and I was thriving in my HR career (I had the most incredible boss who allowed me to work from home often and have the flexibility I needed as a new mom). We saved up and bought our first home together in 2010! It was a perfect 3-bedroom, 2.5-bath townhome, and with my dad in the remodeling business, we started a huge project right from the start! We added a loft for a second living room/playroom for our boy. This was such an exciting time for us!

Around his third birthday, some of my family had approached me and mentioned they thought maybe Audric had autism. My sister was working as a 1:1 aide for a boy with Autism and she saw some similarities. This finally led us to seek a medical diagnosis which seemed to take FOREVER. It was about a 6 month process with an HMO to get all the referrals that finally led us to a neurologist who looked at him and ordered a Fragile X test amongst some others. This was the first time I had heard the name of a condition that would play such an integral role in our future!

Sure enough, the Fragile X test came back positive. He had the full-mutation and I was the pre-mutation carrier. WHAT the HECK does all of that mean?!?! Well first off, before I had a chance to do any research, the doctor told us he would never drive, marry or live independently. This crushed my soul! For more information about Fragile X Syndrome, you can visit this website.

Little boy with Fragile X Syndrome smiles for a photo in his stroller while wearing a Superman suit
Courtesy of Jen Newsome

I remember being so ANGRY, and looking back I was beginning the grieving process, so this makes perfect sense. I went into a severe depression! One that looked like getting up ready to fight the world! I went straight into action mode. Trying to figure out what we needed to do to help our son! The first step was early intervention (which we missed through the Regional Center because he was over 3 years old). This was really upsetting to me because that damn pediatrician dismissed my motherly instincts and now we were behind! I hated being behind! So, we jumped in the public school system and blindly trusted the services recommended.

I was still trying to hold onto my career and my hubby had a crazy schedule with the sheriff’s department, so we were like ships passing in the night. I had to add therapy for myself to this crazy schedule, and you guessed it, I was ANGRY. My hubby was also grieving, but much more gracefully than I. His biggest concern/fear was what will happen to Audric when we die, while I was just worried about every single detail of his life and our future. I felt so guilty because this was because of my genetic makeup (which obviously I had no control over), but let’s just say I was beating myself up inside over it!

Interracial married couple take a photo out at a restaurant with their special needs son who has Fragile X Syndrome
Courtesy of Jen Newsome

Fast forward a couple years later and we were all EXHAUSTED physically, mentally and emotionally! Audric was immersed in special education, speech therapy, occupational therapy, physical therapy and behavioral therapy. One day I took my hubby out for happy hour and proposed we sell our home and I quit my job so we could really focus on his career and Audric. He thought I was crazy, but he agreed. It was around this time we were baptized at Saddleback church and decided to really surrender to God and appreciate the life we were given instead of mourning the life we thought we would have.

This became almost as exciting as it was when we purchased our home! We sold a ton of stuff and really wanted to live a simpler life, not trying to ‘keep up the Jones’ but really putting our time, money and efforts into what really mattered to us (church, family and all things fragile x and special needs). So, we moved into a small apartment and I was finally able to take a deep breath and start enjoying life again. I was able to really dive into ABA therapy and volunteer for the local fragile x association where I could help others who are newly diagnosed not feel so alone. We also helped start an annual 5K for FXS fundraiser which has been going strong for 8 years (we got one in before the COVID-19 shutdown). It was a beautiful time in our life which was shocking to me because I thought having a nice home, nice cars and all the ‘stuff’ would be so fulfilling, when I found it was completely the opposite.

About a year later, we were emotionally ready to take on a new challenge – IVF! I was already 37 and already had a low egg count, and as a FXS carrier it was even lower. We did our retrieval and I got a whopping 4 eggs. I was so disappointed, but I was told it was quality over quantity. We elected to have Preimplantation genetic diagnosis (PGD) to make sure they didn’t have the fragile x mutation. The test came back; 2 with FXS, 1 inconclusive and 1 healthy! We had to freeze anyway because of PGD, so then I decided I needed a breather before implantation. I let my anxiety get the better of me and found every excuse in the book until it was a year later.

Couple attempting IVF to get pregnant take a photo of their one healthy implanted egg
Courtesy of Jen Newsome

I put unnecessary pressure on myself, but it was time – now or never. My doctor had me on bedrest for 2 weeks. I did everything he said. I went in and my blood work indicated the EXCITING news: I was pregnant! Audric was 10 at the time and he was so excited to be a big brother! However, things took a negative turn when I went in for my first ultrasound at 4 weeks and I could tell the doctor was uneasy. They took my blood once again and told me they would call me. What a nerve wracking few hours it was! I went to pick up Audric from school that afternoon and the call came through. It wasn’t the nurse, it was the doctor this time, so I immediately knew it wasn’t good news. He told me the embryo was not found in my uterus and the numbers indicated I lost the pregnancy. My nightmare was reality. I was devastated once again and another piece of my soul was gone. Let the grieving process begin again, and like the last time, I was ANGRY!

That was 4 years ago, and since then we have put our focus on Audric (who is thriving) and what we could control. He just started high school and his future after is still uncertain, but we will do everything we can to prove that neurologist wrong and help him be as independent as possible. I’m still volunteering in the Fragile X community and now in our school district plus I started a fun online skincare franchise with Rodan + Fields for myself. My hubby is happy in his career and enjoys playing basketball with the guys. We enjoy traveling together, going to NBA games, pool days and spending time with our extended families. We want to see the Fragile X and special needs community thrive and will do everything we can to play a role in that. We are a small and mighty family of three and with God on our side nothing can stop us from living the purpose driven life we were created to live!”

Special needs family take a photo with their son who has Fragile X Syndrome to promote a virtual fundraiser walk
Courtesy of Jen Newsome
Couple take a photo with their son who has Fragile X Syndrome in the middle of a basketball court
Courtesy of Jen Newsome
Little boy with Fragile X Syndrome poses for his team photo for the local basketball team
Courtesy of Jen Newsome

This story was submitted to Love What Matters by Jen Newsome of Lake Forest, CA. You can follow her journey on Instagram, Facebook, and her website. Submit your own story hereand be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.

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