One Year Diagnosed.

How insane is the whole concept of time? Time is a precious thief that is never gained back. This morning I was reminded that it is the one year anniversary of when my son, Asher, was FINALLY "diagnosed". I say finally because for a year and a half, we sought answers and tests and genetic counseling that was always negative.. which is good, right? However, we knew there had to be some underlining issue that tied all of his medical conditions together. We found out he would have a clubfoot while he was still in utero. Cool, that's treatable. I had a genetic screening done per my blood work while I was pregnant, MaterniT21, it was called. This test detects the amount of DNA from a fetus which will confirm if the baby has Trisomy 21 (Down Syndrome). That was negative, so a weight was lifted. Don't get me wrong, we would have embraced whatever God had given us and loved Baby Lewis regardless. Before we ever left the hospital with our newborn baby boy, the neonatologist recommended us seeing a genetic counselor because Asher had distinctive malformed facial characteristics. These weren't easily pointed out. As far as we were concerned, our new bundle of joy was perfect (and he was, still is and always will be). We did however take their advice in seeing a geneticist. When Asher was a little over a month old, we traveled to University of Alabama at Birmingham to see a geneticist. They thoroughly went through mine and Jarvis' (dad) medical history as well as our family's medical history. I did inform them that I had a 2 uncles and an aunt that were diagnosed with Smith Lemli Opitz Syndrome. One of the uncles and the aunt had passed before I was born so I could only provide information given to me by family regarding them. However, I was raised around my other uncle and he had only passed in 2013, so i remembered quite a bit about him myself. What is ironic about that is that all of their nieces and nephews were names after them and Asher's name partly came from the idea that my uncle's (the one I was raised around) middle name was ASHley (Steven Ashley). So with the information I provided them, they tested Asher for this. It was negative. From the Moment Asher was born, I always thought he resembled these said uncles/aunt, although, he is a spitting image of his daddy. Remember these said Uncles and aunt, they play an important role later.

After getting tested for that specific syndrome and it being negative, as well as having a "DNA Microarray" ran (which tests an umbrella of the most common syndromes) we were still left with no answers. We continued to live on and had another appointment with our geneticist a year later. As the first months of Asher's life went by, he was missing milestones, he was nonetheless, healthy. He was diagnosed with developmental delays as well as failure to thrive. He had/has Hypotonia (weak muscle tone) which is why it is hard from him to sit, stand, walk and even talk etc. We started physical therapy around his first birthday. He was not rolling, playing with toys, talking or doing anything else that he should have been at this age. We saw our geneticist again right before his first birthday, they ran more tests which again, were negative. A few months later (the Summer after he turned one), we saw a neurologist that partnered with a geneticist. He ran a WES (Whole Exome Sequencing) panel. This would test every chromosome. In addition to Asher's DNA being swabbed by mouth, Jarvis and I tested our DNA as well. This was to determine who and where, if anything, was coming from. It took about 2 months for the results to come back, but when it did, it was NOT the best timing.

When Dr. Lee (his neuro) called me to tell me the results, I was at work. I was working at Mobile County EMS as a public safety dispatcher. On this day, Jarvis was taking Asher to be direct admitted for the third time due to no resolved issues with his weight loss and continuous vomiting. I distinctly remember stepping away from my console to take the call from his neuro. I was relieved when he told me we had results. He told me that ATR-X was extremely rare and that he didn't know much about it so he would have to do research. I went back to my console, put my headset on to continue to work (I was going to go straight to the hospital after I got off). I started researching "ATR-X" and the first few things I read completely ripped my heart out. The pain was unbearable. I couldn't breathe. I was reading things like "most individuals with this syndrome do not walk or talk" and I was reading the list of medical conditions that most usually inherit. I immediately went to my supervisor and told them that I was not mentally stable enough to continue to work that day and that I needed to lave to be with my son. Shortly after this, I had to resign due to all the time I had to spend at the hospital. I absolutely loved this job and the fact that it bonded me closer to Jarvis and "his world" of being a first responder, but my son was more important and needed me.

Asher was admitted again that day. I remember going home to grab a few things to prepare for the hospital stay. I remember falling on my bed and screaming in agonizing mental hurt. I couldn't breathe wondering if I would ever hear my son call me "mommy" or if I would ever see him walk and play. I was facing a whole new world of uncertainties as I still am and may always will. ATR-X is an "umbrella diagnoses" just like Cerebral Palsy. If people ask me what the prognosis of the syndrome is.. I in short tell them "some do, some don't". I joined an amazing Facebook group which encourage if you are a special needs mama, but also advise that every individual are different and protect your guards in these groups. sometimes, people are not nice or think they know everything. Anyways, I started educating myself. I met some great people in the group and I have since made great friends with families. We even do conference calls every so often. They have a meet-up once a year in different places. We have not been able to attend due to COVID, but I really hope to next year!

So, here is some education -

ATR-X stands for: Alpha Thalassemia Retardation - X linked. so let's break it down even more. Alpha Thalassemia is a blood condition that impairs production of hemoglobin in the blood. Fun fact: Not all ATR-Xr's have Alpha Thalassemia (Asher doesn't). The X-linked means that the gene came from me, sorry kid. So that essentially means that any future males that I have will have a 50/50 chance of inheriting this gene mutation and being affected. Any females I bare, have a 50/50 chance of inheriting the gene, like I did, and passing it on to their sons/daughters. It does not affect females as it does males although I have heard of 1 or 2 females being affected somewhere in the world. Which brings me to cases. ATR-X was discovered in the 90's. As of now, there are 200-500 cases of ATR-X syndrome WORLDWIDE. This syndrome is extremely underdiagnosed. With that being said, and the face that the gene was passed to me through the females of my family, many of Asher's Dr's do not believe the 2 uncles and aunt had the syndrome that they were diagnosed with in the 70's. Their facial features look identical to other individuals with ATR-X and their medical conditions line up closer to the ATR-X that SLO. Of course, we will not 100000% know the truth now that they are passed (from other issues), but I know in my heart that they had ATR-X and what amazing history Asher has made in my family to have discovered that. My grandparents that took care of them are no longer alive, but I can't imagine how or what they would say about this today! How amazing is science?

Now for Asher's case, he carries the distinguished facial characteristics, hypotonia, GI issues and seizures. He is non-verbal (he has said a few words very rarely) and we are working on an eye-gazing communication device. His muscle tone has strengthened tremendously. He does to physical, occupational and speech therapy weekly and he also sees early interventional physical, occupational and speech therapy. Asher has a feeding tube (also almost 1 yr anniversary) due to gastroparesis (dysmotility of the stomach) that started at 18months old - he ate normally by mouth prior to a year ago and we are working on it daily, but it would be a while before his feeding tube is taken out, if ever, which is okay, because it has supplied him adequate nutrition and he is nourished and growing after a LONG road to recovery. He wears AFO's and SMO's as well as elbow/leg immobilizes to strengthen his legs, muscles, joints etc. He has a stander that allows him to work on standing. And he will soon to have his own therapy/play room in our new house (which is why we had to sell our home-too much equipment and supplies, not enough space). Asher wears the cutest little red glasses that everyone adores. He will be dependent on me his whole life and that okay because I never wanted to let my baby boy go anyways! ATR-X syndrome is not terminal.

A diagnoses is not a life sentence. It gives you a guidance of what to expect, what to do etc. But it doesn't define you. Asher is not his diagnoses. He is a very loving and LOVED little boy. His smile and laugh will light your world. He has his own spunky personality (with a little of attitude at times). But he can, has and will do whatever he puts his mind to. He is very determined and works very hard.

As far as the "special needs life" it is still fresh for me. I learn new things daily. I have connected with so many families around the world. We still have hard days and have hard days yet to come. We didn't ASK for this life, but God chose me and his father as his parents and there is always a reason. Asher's journey so far has taught me so much about myself, others and the world. His journey, my journey, our families journey is what inspired me to start this blog. I follow a lot of other family's blogs which has educated me and of course, strengthened my relationship with the Lord. I wanted to do the same. I wanted to advocate. I have so much to say and now I have a place to say it, even if it is just for me to vent. I promise not all of my posts will be this long-this one was the start of our lives. I love our Team on Team Asher page. I love your support, prayers etc. it gets us through hard times! Your testimonies make my heart happy. I want to continue to educate and raise awareness for our boys so this is why this blog has come to life. If you've made it to this point in this post, thank you from the bottom of our hearts.

This is US, this is our story.

I hope you stick around!

L83R Gators!

With Love,

Cara

If interested, here is some educational reads on ATR-X

https://rarediseases.org/rare-diseases/alpha-thalassemia-x-linked-intellectual-disability-syndrome/

https://medlineplus.gov/genetics/gene/atrx/

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