They Say He Has A Genetic Disorder…

I would first like to say, I am in no way, shape, or form qualified to make an assessment on any child and their development. This post is solely to share my son’s story and inspire other moms to share theirs. I’ll try to make this one not too lengthy but, to get every major detail into this post, it will take a little more than a few cute photos and a couple paragraphs. But, to trim some excess, I’ll cut right to the chase.

When my son was born, he was a perfect 8 lb 3 oz little man, with only very slight jaundice (no lights), and blessed me with a pretty typical, easy pregnancy (minus the nausea and heartburn)! As first time parents we didn’t know what was or wasn’t normal for an infant, and of course being our age (23 & 25) and having no family history of genetic disorders, raising a special needs child never even crossed our minds. However, at times, when I would take “bragging rights photos” of my little one, I sometimes deep down saw that maybe our baby looked a little different but, since no one else said anything or questioned it, I never put much thought into him looking a little bit different than most. At his one year check up appointment, alone with my little guy while hubby was at work, our pediatrician asked if he resembled his daddy. She had seen dad before so, I didn’t really understand what or why she was asking but, it had been a while since he accompanied me to an appointment so, I answered “of course!” and didn’t think much of it. Seconds later she said to me,”Oh okay, I’m only asking because well, I’ve gotta admit since the first time I saw him (when he was born!), I immediately thought DOWNS!” I stepped back, sat down, dropped my jaw, picked my stomach up off of the floor, and asked her to repeat what she just said. We had been seeing her for a year and of all times to bring this my my attention, she does it now?! When I’m completely alone, with no support, and so nonchalant as if she just asked me if I like peanut butter and jelly. After a trillion questions, and her appointment timer cutting me off short as she scooted me out the door, I contained my composure and walked out. Immediately I called my mom, shaking and crying and well, just completely losing it to be honest, and after letting reality set in for a moment, I called daddy. He had only been working his new big boy job for a couple of weeks and I knew this was not going to be an easy call.  Thankfully, this man is one of the most rational (99% of the time) and  realistic people that I know. He didn’t get upset or freak out, he just told me, “You know what, we love him either way and if there is something different about him, then so what?! What will it change? Nothing. Stop crying, don’t be upset, we will take care of whatever he needs and get him the help he deserves. Where do we start?”

Not even a day went by before I had a genetics appointment made for LO at the Nemours Children’s Hospital and a Karyotype screening scheduled to test his blood for Downs Syndrome. I felt so guilty for not listening to my gut, for not asking his pediatrician if I’m just seeing things or If he does look different. I wish I had, I wish I could have just listened to my motherly instinct and blurted it out at one of his many appointments. I didn’t, and there’s nothing I can change about it now but, what I CAN do is listen to that urge from now on, and push to get my son anything and everything he needs, no matter what the consequence may be. We didn’t hesitate and took him for the first available appointment the lab had for his blood work, and fourteen days later we were making a two hour trip to see our new genetics specialist. The results came back negative for Down’s, which was a relief but, started us down a path of even more questions. To sum up most of the appointment, her professional opinion of our guy was that there is something going on, something abnormal, but she’s just unsure of what it is. His physical appearance resembles a Down Syndrome child but, his behavior and skills resemble something else: a different, most likely more rare, disorder. She didn’t know exactly what but, was 90% sure that whatever it is, is not a common diagnosis, and told us even with the most expensive testing offered right now, there’s a risk we may never know what it is.

To give a quick description of his appearance, which at this point was the ONLY reason for concern of a genetic disorder, I will list his “abnormal” features below:

-Epicanthal Folds of the eye lids
-No Bridge of the nose
-Low placement of the ears
-Ears slightly tilted backward and pointy at the top
-Circumference of the head small by 2-3 cm
(He resembles an Asian child, of which neither of us have in our immediate bloodline. So strong does he have this appearance that, to this day, random people approach us and try to CONVINCE me that my child is Asian or adopted, he is neither.)

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Fast forward 4 months to another test. We waited almost 6 weeks for approval of a second, different test, another 2 weeks for lab work, and another 4 weeks for results. Then, tack another 2 weeks on for our appointment and we were finally able to go over our results for his second test. The test was called Microarray. It too was a blood test drawn into a couple viles at a lab and then dissected by our genetic specialist and her partner. Basically, the way she described it to me was that this test gives a birds eye view of all the chromosomes. If there is one that is majorly disformed or under/abnormally developed (Genetic Mutation), there is a 15% chance of finding it with this test. (Yes, I know, 15% seems so small and almost worthless, but to get up to more conclusive tests, you have to start from the bottom and work your way up the ladder.) During this analysis of his chromosomes, again everything came back normal. We were so thrown off. Was there something abnormal or wasn’t there? Is this even worth it? He’s developing on track, his gross motor skills are above average for his age, are we wasting our time? You know, as a parent you never expect this, your kid should be perfect right? You KNOW your child WILL without a doubt, be the popular, most attractive, most talented kid in all of his school years and then will grow up to move out on their own, have an excellent career, and eventually a family of their own. Without a diagnosis, a typical developing child, and a few normal test results, the thought of “maybe my kid just looks different,” was always in the back our your minds.

After reviewing the results of the Microarray test, I asked our GS if we could get a second opinion from another specialist in her office. Within only a few seemingly long, daunting minutes, her partner entered the room and did a quick assessment of our son. For the third time in 5 months, from the third of three professional observations, we got the same response: “I know there’s something, I can feel it, I can see it but, I just don’t know what it is. Going over all of his results, seeing his appearance and also reviewing his skills, I just don’t know that I’ve ever seen a child like him before. He resembles one thing but developmentally and socially resembles another.” The partner leaves the room and our GS reenters by herself. She tells us to give her a few months, come back in for a look and a review, and hopefully by that time we can evaluate him based on his progress developmentally, to see what path to take. (At this point he was close to on-track, within a few months he would be speaking and we could evaluate his placement on the percentile chart.) We scheduled our next appointment and headed home.

“Vroommmmm…” Fast forward again, 4 months later, little man is having the most terrible, violent, aggressive outbursts and tantrums, which include head banging on doors, floors, and walls, and biting …HARD. We were at a point that we could no longer even take him in public. (Just to list an example: We were at a local Olive Garden for dinner one night and we, as always, placed his dinner order before ours.  His food came quickly and as he wanted but, out of nowhere he rips and tears daddy’s watch right off of his wrist and full fledged throws it at an elderly woman at the table next to us. Then proceeds, to just start whaling on daddy with both fists. Next, he picks a fork up to throw it but, thankfully our reflexes wot that we could no longer even take him in public. (Just to list an example: We were at a local Olive Garden for dinner one night and we, as always, placed his dinner order before ours.  His food came quickly and as he wanted but, out of nowherrked quicker than he could release and we saved that one, for him to start banging his head on the table. At this point, completely horrified with my eyes welled up with tears, I apologized to the woman, picked him up kicking and screaming, and walked out of the restaurant. After packing him into the car, I had a few minutes alone to actually assess the situation that just went down. I was in disbelief of what had just happened and couldn’t stop wondering what everyone in the restaurant was thinking. The next day, I called and scheduled a follow up appointment with our GS. We weren’t scheduled to see her for another month and a half but, I was growing concerned at his extreme behavior and at this point was expecting a second baby.

We went in for our appointment and discussed his development. She gathered that he was approximately 4-6 months behind on speech but, above average in his gross and fine motor skills. She referred us to a services program which would evaluate him for therapy services and help get us the funding assistance we needed to get him on the right track. As for getting closer to a diagnosis, the only other test being offered at that point, that would be beneficial to our family, was a test that was not covered under insurance and started at $7,000 going up to $23,000, depending on how far you wanted to go with the test. Thankfully though, she assured us that within a year or two, with more knowledge and experience with the test, insurance companies will start approving this test and they will be less costly. Not to mention, with more experience and knowledge about the test, the percentage of the test coming back with results will be higher. At this point, the only thing to do, whether we had a diagnosis or not, was to start therapy. So, I jumped on that bandwagon. For anyone who has a special needs child, or knows someone who does, you are most likely aware of the untimely fashion of getting approved for services or even getting an appointment with a company that evaluates your child to be approved for services. Don’t get me wrong, I am INCREDIBLY thankful to the company (Early Steps) we worked with. The women are so caring and kind, and truly want the best for the children and families they are helping, By my statement, I am only trying to put these time factors into perspective for parents that are unaware or new to these experiences.

After waiting 3 months for our appointment, my son was evaluated/observed by 4 specialists. We went into the appointment expecting to MAYBE get approved for speech therapy but, left with the results of 8 months behind in speech and needing in-home speech therapy, behavior therapy for his outbursts and aggression, and occupational therapy for sensory overload. They gave me a huge packet full of forms and a ton of information I really didn’t even understand, as I was still trying to process that we were leaving with triple the amount of feedback I was expecting. They explained to me that their company (Early Steps) observes the child, assesses whether or not they need therapy, and upon approval, refers you to another company/companies that actually employ the therapists we will use. For any fees that insurance does not cover, Early Steps will cover the difference for the families.

Within a few weeks of our evaluation with the Early Steps program, we started therapy 3 days a week for Speech, Behavior, and Occupational (Sensory) intervention. I read everything I could find online about early intervention to prepare myself for each session. For each form of therapy we were asked to complete several verbal and written questionnaires for the therapists to map out what our path should be.

Our first session was Behavior Therapy. A nice woman came to our home and sat to watch me interact with my son, who is very selective of who he connects with. When it comes to showing affection and attention, if he doesn’t get a good vibe from you, he WILL make it clear that you are not welcome in his space. For some reason, he did not have a connection with her, and after a few weeks of treatment, I had to request that we parted ways. Our sessions were 30 minutes long, but the aggression and outrageous behavior would carry on all day once she left, which was making the process even more difficult for me. I went almost two weeks with emotional breakdown after breakdown, sometimes 3 times daily. I was so overwhelmed with his behavior and no one warned me of the “spike” before starting therapy. Yes, a “spike”. Within a few weeks, or possibly days, of starting treatment, changing a routine, or revising your reaction to outbursts, a child’s behavior may spike as they try to reject the changes you are making. Mine did. He was more aggressive, more violent, and excessively pushing my buttons and testing my boundaries. Once speech and Occupational therapy started, I was more than relieved. Our speech therapist, who we had never met, walked through the front door and this uplifting feeling came over me. I felt like she was IT, she was the one that was going to clear our slate and give us the help we needed. This woman is UH-MAY-ZING. She came in and immediately acknowledged our little guy. She pulled out puzzles, handed him some pretzels, and really had him intrigued. He didn’t want her to leave, which is saying a lot for a kid who literally shoves people out the front door and slams it shut. Over the next handful of weeks with her she was able to get him saying more than 8 new words and was so vastly dedicated to our son and his needs, that she pushed and pulled to get us in touch with an unbelievable Behavior Therapist, who’s schedule was already jam packed and overbooked. She did some begging and pleading for us and not too long after did we have the next perfect piece to our recovery puzzle. We are also blessed to have a wonderful Occupational Therapist as part of our EI team, whom we visit out of the house once a week and has given me an unmeasurable amount of advice and intervention options. All of which, have worked wonders!

After listing off to our new BT, a variety of *un-noted* issues that we had with the last BT, she jumped right up to bat with her goals for us. Instantly trying to form a connection with our son, she got down on the floor to play with him, gave “high fives”, and took into account that I noted he demands a little more personal space that most kids. We went over our concerns again, and she addressed every single one. She was only deemed an hour for our session but, stayed until she covered every ounce of information that she felt was beneficial to us.

Without a diagnosis, we have been appointed the minimal amount of time per session, per therapy. Our weekly schedule includes: 1 hour of 1 day of Behavior Therapy, 1 hour of 1 day of Speech Therapy, and 30 minutes of 1 day of Occupational Therapy. We are attempting to get more time but, at this point it is the bare minimum. In December, we will lose the Early Steps program and will be transferred to the public school system. To say the least, we’re crossing our fingers that we’ll be approved to keep our in-home therapy with the specialists we already know and have formed great connections with.

Going on almost 6 months of intermittent therapy, our little guy has had more positive changes than I could have ever imagined. We still don’t have a diagnosis and he isn’t a perfectly speaking, well behaved child but, we are closer to our goals, and having less, shorter tantrums as each day. His speech has gone from 8 words to more than 50 and he can sit in the front part of a shopping cart, which was NEVER an option for us before! He is also somewhat swinging at the playground, and willing to show affection to well-known friends and family. We are scheduled to have a Whole Exome Sequencing test this fall, and will be evaluated by a developmental pediatrician, who may or may not diagnose our son as being on the Autism Spectrum.

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As for advice to other moms going through a similar experience, I can only tell you that my biggest regret was not listening to my intuition. Not that it would have made much of a difference but, we may be slightly closer to a diagnosis for our child. I also feel that when it comes to therapy and intervention, be open minded. Try everything and anything they offer you! There are so many parents that look at me like I’m crazy when I pull out a handheld brush in the middle of Publix and start going at it as I brush my toddler’s arm but, it works for us and I’m so glad I didn’t let the wandering, wondering eyes concern me.

I know I have left out a ton of information and experiences but, this post was intended to get the key parts of our story exposed and to inspire other moms in similar situations to express their thoughts and feelings.  If you have any questions or want to pick my brain a little more, please feel free to contact me via the comments section in this post or email at TheHappeningHousewife@gmail.com.

Thank you for taking the time to read our story!

7 thoughts on “They Say He Has A Genetic Disorder…

  1. Hi Stephanie,
    It’s easy to get overwhelmed and discouraged. Always listen to your intuition – don’t accept what you feel in your heart is not true. People that have not lived your life , and your challenges don’t have any idea what you’re dealing with! You are doing the right thing- fight for your baby. No one else will put him first, that’s a mothers responsibility. And there are going to be times that you doubt yourself and your choices, and times when your options are not what you hoped for. And some will call you crazy or paranoid- but a mother knows her child! I believe in you- you can do this! God doesn’t make mistakes ! Call me if you ever need to talk or moral support! Lisa

    Liked by 1 person

  2. Misti, thank you very much for your comment and for taking the time to read my little guy’s story! I am so happy to connect with you and keep up with your blog! You have a beautiful family and I hope only good things come your way for your daughters intervention!

    Like

  3. What an adorable little boy!! I’m sorry for all you’re going through. When we were trying to find a diagnosis for my daughter, the hardest part was the not knowing. It’s so true, you are your sons only advocate and it’s up to us to push, bug and question until our child gets the help we know they need. I actually never made my blog private and added the follow by email if you want to follow! That’s another thing I learned that when I find other moms who are going through similar things, it helps to compare stories and successes! Even just so I know I’m not alone!

    Liked by 1 person

  4. Hey Stephanie ! It’s crazy to think we are growing up and now all getting married and have kids. I read this and do proud if you and know yore doing everything you can. I got faith that everything will be fine and your precious boy will be amazing .

    Liked by 1 person

  5. Hi, I saw your post on Renee White’s. The first thing I noticed is you have a beautiful little guy, he is just so cute. I do have a daughter, Megan who is 26 and has DS. I think you are doing a wonderful job for your son. I know things came be overwhelming at times. You got this Mom. The one thing that does bother me is the Pediatrician, who thought something was going on and DIDN’T MENTION/BRING IT UP. REALLY. Mom you have done a fantastic job. One thing I have learned in the 26 years of our journey is to keep pushing. Sometime children don’t click with the person who is providing a service (normal w/everyone) as you have seen. You are a great MOM.
    Kin McMurray

    Liked by 1 person

    1. Kim, Thank you so much for your comment, it means so much to me that other moms in similar situations are reaching out to me and have taken the time to read such a long story! Thank you & I wish the absolute best for your daughter! As for the pediatrician, I have no words still for the situation and the way she handled the situation. I was, still am, outraged 🙂

      Like

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