Tis the Season – The Good, The Bad, The Sad

Saturday – Dress Rehearsal/Bday Party

I honestly could not wait to blog this weekend. Lots happened in such a short amount of time. When we created this blog it was to be a place to share our story, be an outlet to share our feelings, teach others about Fragile X as we learn more, and share those incredible milestones, no matter how small!

The weekend started with a dress rehearsal for our kiddo’s Christmas Program. I want to brag about how incredible Jackson did!! Zero meltdowns, even with all the kids, music and just all around commotion. Carter did great as well…as well as you could expect for a 3.5 year old. They both stood/sat still during their performances, sang (Carter) when it was time and just made us really proud.

After that, we rushed to a birthday party for our niece. Again, another situation that would sure to be one that would overwhelm Jackson. He did well for about an hour, he needed his nap. But at one point he lost it and started banging his head on the wall. It took me a second to see him, when I heard someone laughing and saying, “Look at him, does he think that’s funny?”

Guys, I wanted to cry. The reason he has Fragile X is I passed down the gene to him…it’s my fault! I wanted to run out the door and scream at the unfairness that my child has to deal with this the rest of his life. I wanted to cry and scream, because people don’t know anything is wrong by looking at him and just assume he is a typical developing child. I wanted to cry and scream, because this is our life day in and day out and why I would rather just stay home instead of deal with people that just don’t know or understand. When I saw Jackson and knew what she was talking about, all I could say was “No, he has Fragile X Syndrome.” She apologized, which what else can you do, but at that point the pain and damage to my spirit was done.

At another point, he was walking and just stopped to hit his head on the floor repeatedly. I ran over to scoop him up and caught the eye of someone else as they looked at me like I am a helicoper mom and I need to calm down. At this point, I wanted to cry and scream. I wanted to grab a chair, stand on it and ask everyone for their attention to say, “Jackson has Fragile X. He has horrible anxiety in these situations, he can’t handle people in his face, he will hit his head on walls and the floor, because in his head he hears what sounds like White Noise (this is info the doctors have told us), so when he bangs he is trying to relieve that sound. He doesn’t want to hit his head, he would rather play without interruptions. He would rather be a typical developing child, but this is our life and we are doing the best we can for him.” Could you imagine having a White Noise machine in your head all day?!?!

As more holiday functions approach, I honestly dread having to spend time with people that just don’t understand or want to understand him. I would rather stay home with our little family, where there is no judgement and it is a place he can be himself.

Sunday – Christmas Program

Ok, so after a super emotional day on Saturday, we had no idea how the boys Christmas Program was going to go. I have to tell you, they amazed us!! Carter sat with his class, listened to Pastor, and when it came time to sign his songs he was amazing! Jackson had no meltdowns!!! He sat with his teacher, who is incredible with him! He walked down the aisle holding hands with her, sat so well during the service and sat so nicely during his songs with his class. They made the cutest angel and sheep we have ever seen (we might be a little biased!)

So, for a weekend that had it’s highs and lows, we ended on a great note. I just have to get used to the fact that not everyone understands that not all kids are the same, some have silent struggles, anxiety, etc. All we can do, is help educate folks on Jackson and Fragile X and continue to advocate for our sweet boy!

Tis the Season for all the craziness!

Turkey Day and 2020 Plans

Turkey Day 2019

Wow, I am so sorry we haven’t posted in a while! Things have been crazy with the holidays, but crazy in a great way. We hosted Thanksgiving which included my mom’s side of the family, part of my dad’s side and my in-laws. It was a great night with lots of great food, laughs and love! We found out that Jackson could care less about Turkey or Mashed Potatoes, but he LOVES stuffing!! He was so happy that we had leftovers the next day as well.

As we welcomed a lot of people into our home, all people that Jackson has meet and knows, his anxiety did escalate, which for him and Fragile X is pretty typical. He did warm up eventually and had a great time with his family. One day I hope that he outgrows the anxiety, but if not, I just hope that others understand and respect his space. For a child that doesn’t speak yet, I cannot imagine everything going through his mind and all his emotions he is feeling.

One thing everyone should be aware of is just respect people’s space…even the people you know and see regularly. Not everyone wants someone up in their face each time they meet…not even a typically developing individual.

Upcoming 2020 Plans

So, I have held off on posting this as we had a few more things to figure out, but I can’t wait to share this news. In January, we will be making a trip to Cincinatti Children’s Hospital to meet some of the best doctors in the field regarding Infant/Toddler Fragile X. I actually saw a video on Facebook from the FRAXA Foundation with one of the doctors talking about research and the future of medicine for Fragile X and decided to look into that dr. Upon that research, I found the Children’s Hospital and how they actually had a center someone Jackson’s age. This is huge as we don’t have a center like this here and in numerous conversations they actually have people come from the UK and all over the US to see them, so you can see the need clearly exists, but resources just don’t seem to be there.

I contacted them and since that day, my husband and I have had 3 conference calls with these doctors and exchanged tons of emails with their office about what they can offer us and Jackson. There will be some tests and then clinical appointments to get us even more info about Jackson’s case and some direction on treatment options for behavioral issues he presents today, such as head banging, which is so hard to deal with.

As we are planning this trip, bear with us, but we will definitely keep you posted on this upcoming adventure. Fingers crossed that we get more answers to help our sweet boy.

Stay tuned!

6 Month Assessment with First Steps – IFSP

This past week has been 6 months since we got Jackson involved with First Steps. They have been a huge blessing for our family in helping us navigate developmental/intellectual disabilities/delays and we will always be grateful. So, after you have been in the program for 6 months you have a meeting to talk through progress and to discuss adding any changes to the program you might want to make….they really do cater to you!

We discussed Jackson’s IFSP, Individualized Family Service Plan. This is a plan for special services for young children with developmental delays that focuses on the child and the family from birth until 3 years of age. Once a child turns 3, they are phased from the First Steps Program into the Early Childhood Center of your school district and will be on an IEP, Individualized Education Program.

We are so happy to see Jackson making such great progress and there will always been things to improve upon, so this time we discussed adding speech therapy!! We are beyond excited to hear this little man’s voice one day, so we cannot wait to begin these sessions.

In other news, Jackson has really become a master with a fork! He loves to eat whatever we eat and the other night he took my fork out of my hands to feed himself fried rice! Way to go, big dude!!

What does therapy mean for Fragile X kids?

While some might be upset getting results of Fragile X, I think we were a mixture of emotions. Upset that this meant an uphill battle for our sweet son, but also relieved to know what was causing his delays. Now that we had a diagnosis, we could begin to put a plan together to give him the best support system we could.

We had already been a part of First Steps, which is an early intervention system that provides services to families with children, birth to three years of age, with disabilities or developmental delays. So, after we found out that Jacks had Fragile X, his Neuordevelopmental Disabilities Speciality recommended we check out Blue Stars Therapy.

Blue Stars provides in home/school early intervention therapy services for young children with Autism and other developmental delays using the ESDM (Early Start Denver Model). We contacted First Steps to see if they would partner with Blue Stars and we got started right away!

Jackson is getting 8 hours of intensive therapy a week. In such a short amount of time, he has achieved so many milestones. While some people might think the things we celebrate are small, for someone with Fragile X, they are huge! He is starting to babble and can say things like Up and Hi and waving bye bye. He loves to play with bubbles and pop them, while saying Pop! He learns something new every day and to see things click for him is truly incredible.

We are looking forward to all the things he will accomplish and learn in the future and are forever grateful to his therapists, dr’s and teachers!

Happy 2nd Birthday, Jacks!

The past few days have been a whirlwind! This past Saturday, we celebrated Jackson turning 2 with family and friends. He had such a wonderful day celebrating. His favorite show is Bubble Guppies, so of course that was his theme! When he hears the theme song he will race from any room in the house to sit in front of the tv and flaps his arm with excitement.

On Sunday, that was his actual birthday! We started the morning singing to him and then went out for donuts!! Both the boys loved that…I mean, who doesn’t enjoy sugar that early in the morning!

His birthday is also a day where I take time for myself. In the past 2 years, I have cried thinking about that day more than I can count. In a previous post I talked about our delivery. It was the scariest moment of my life. One thing I did not mention was what one of the labor and delivery nurses said to me upon being wheeled over to L&D. They got me on a hospital bed and started taking all my vitals. Then, she started checking for Jackson’s heartbeat. When I heard a sound…

Me: “Is that his heartbeat?”

Nurse: “No, that is your’s.”

Me: “Well, I know I am fine, find his!”

Nurse: “I am trying….”

You are trying?!?! Are you kidding me right now? That is what you are going to say to a woman that is 37 weeks and 4 days along and is bleeding for unknown reasons?? At that point, I lost it and started crying uncontrollably. Lots of nurses and dr’s entered the room and started hooking me up to machines, asking what I had eaten last and when, etc. Then, finally my dr arrived and asked if I had questions and all I could choke out was, “Can someone please call my husband!?”

It is a day that started off incredibly scary and brought us a true miracle boy. So, I take time for myself to celebrate life, because on that day both of us or one of us could have lost our lives. It is hard to tell you not to take days for granted and to live life to the fullest, but try. Life is not a guarantee, enjoy the big things, celebrate the little things and just be thankful for another day on Earth!

Happy birthday, sweet Jackson! You are a true miracle and we thank God every single day for you and everything you are teaching us and will continue to teach us!

The Results Are In…

On August 5th, 2019, our family was boarding a plan for a 10 day vacation to Grand Cayman. This was supposed to be an incredible trip with our 2 children, brother, sis-in-law, nieces, nephew, mom and dad. We had been planning this trip for a year! As we waited for our taxi to pick us up from the Airport and take us to our hotel my watch started ringing. I could tell the number was probably the dr’s office, but I couldn’t answer from my watch, because the noise in the airport was so loud. I panicked trying to find my phone amongst all the backs we had with us…having 2 kids under 4 means you have a ton of carry on bags. By the time I found my phone, it had stopped ringing. Then, it started again! I hurried to answer it and found Jackson’s dr on the other end. She mentioned she was received a weird message the first time she called and I informed her it was because we were out of the country. Her response, “Oh!” In that moment, that “Oh” told me what I needed to know. She continued to tell me that Jackson has over 200 repeats, giving him the full mutation and having Fragile X Syndrome.

Standing in the airport, in another country, with one hand on the stroller I broke down in tears. All of our lives were totally changed by this news. She then proceeded to tell me a medical term, Partial Methylation, but she said she wasn’t sure what that meant and by the time we got back to the US we would setup a meeting to talk through everything.

So now we are supposed to go enjoy our trip not knowing part of the diagnosis and wait probably 2 weeks or so until we can get into her office and find out what exactly all this means….luckily I have drs in my family who could help us understand all of this and they just so happened to be on our trip too!

Best case scenario for someone with a full mutation of Fragile X Syndrome is having partial methylation, which means the FMR1 gene, which generates the protein for brain development is partially turned on. Other cases that have full methylation mean the protein is not turned on.

Next steps for Jackson were to begin 8 hours of therapy a week. They use the Early Start Denver Model (ESDM), which primarily focuses on children with autism. And while not all people with Fragile X are Autistic, they do have symptoms that resemble Autism.

Stay tuned as we start to look at therapy sessions, the hunt for daycares, and celebrating milestones!

Autism Screening

In July 2019, we took Jackson to his Autism Screening. This appointment was slotted to last 3.5 hours. As a kiddo under 2 years old, having him cooperate for 3.5 hours seemed impossible, but he did incredible. The screening was all play based between him and his doctor. As a parent, it was the longest 3.5 hours of my life. My mom and I sat in the room during the screening and were instructed to not speak and basically just sit and observe. If he came to either of us we were not to ignore him, but really try to redirect him back to the toys or his doctor. It was incredibly hard to not talk to your child or help him. There were a few times we wanted to help him put a shape into the shape sorter or wanted to applaud him or give him affirmations, but had to refrain. So hard!!

At the end of the grueling 3.5 hours we sat and waited for the doctors to compare their notes and give us their diagnosis. “At this time, I cannot say he has Autism.” “His eye contact and communication skills are really incredible.” Ok, but then what could be going on??

We talked some more and the doctor mentioned me being adopted and started to talk about genetic testing. It was at that moment that I blurted out, “I am a carrier of Fragile X. I have 78 repeats and Carter has 29!” Her jaw dropped. Now, if you have ever done a screening like this Autism screening, then you have filled out stacks and stacks of paper with 1,001 medical questions, so how is it that something like this never came up? And how is it that we never mentioned it ourselves? Remember that pediatrician who told us Jackson looked totally “normal”??? That is how we put this in the back of our minds and never thought about it again…. Thanks, Doc!

Anyway, we were sent home with a buckle swab kit, so we could swab Jackson’s cheeks and send via FedEx to get his results. The next morning, we swabbed him and dropped his test in the mail. Now we wait…

Missing Milestones

As we began our new life as a family of 4 things were absolutely perfect! Carter loved being a big brother and we loved doting on our beautiful boys.

As time passed, we started noticing that Jackson was missing ‘typical milestones’. Things like sitting up unassisted, rolling over, crawling and babbling. Honestly, it was hard to know if he was actually developing typically or not, because Carter was always way ahead of schedule for everything. At about Jackson’s 1 year checkup we mentioned to our pediatrician maybe we should test Jackson for Fragile X, but the response we got was “look at him, he is totally fine.” Not knowing much about Fragile X at the time and knowing this person is supposed to be a professional in their field, we took that at face value and went on with our lives.

Jackson continued missing milestones, but the pediatrican didn’t seem to think too much of it, because children develop on their own schedule and since nothing stood out to us as too crazy of a gap, we again went on with our lives.

Finally, at Carter’s 3 year old checkup, I talked to the pediatrican about some things concerning me with Jackson. All I had to say was he bangs his head on the wall, isn’t babbling and she cut me off and said we should set something up.

Long story short, we met with her and got a referral to an Autism Center and setup an Autism Screening. Then, we waited….

A Complicated Birth Story

On Thursday, October 19th, 2017 at 11:59 PM, I was experiencing some symptoms that just did not seem right. I don’t want to be too graphic, but at the same time hearing what I went through might help someone else. I was having cramping all across my stomach and back that was lasting for 15-20 minutes at a time, so I knew this was not Braxton Hicks or normal contractions. I also started experiencing some bleeding.

I contacted the After Hours Emergency line at my OB’s office and you could tell the Dr. that I spoke with had just gotten out of bed to take my call. When I explained what I was experiencing I was told it sounded like normal signs of early labor….nothing to be concerned with. I had my next check-up at 10:30am and she told me to keep my appointment…as if I was going to cancel it?!? I was 37 weeks and 3 days at this point, why on earth would I cancel??? Anyway, she tried to reassure me nothing was wrong and told me to try and get some sleep.

How on earth can a pregnant woman with all of this going on relax, get some sleep?! Of course I did what anyone would do and hopped on Google to check out my symptoms. The very first thing that popped up was Placental Abruption. What the heck does that even mean?!? Statiscally, it was saying that it is very rare and happens in less than 200,000 pregnancies a year. So, clearly, this could not be it.

I finally fell asleep, still knowing something is not right, but if the on-call dr didn’t think it was anything serious, maybe I should trust her. Upon waking up, I called my OB’s office as soon as they opened and told them what was happening, they too said it sounded like early labor, but if I wanted to come in earlier I could. So, at 9:30am on Friday, October 20, 2017, I got in my car and headed for the dr’s office/hospital. I made a quick stop by McDonald’s to get a Bacon, Egg and Cheese Biscuit Meal just in case I was to have this baby and not be able to eat for a while and then pulled in to the parking lot at the hospital.

By 10:30am, I was in the office waiting to be seen. While sitting on the table waiting for my Dr, I suddenly felt light-headed. I stood up and walked into the hallway to tell someone I was going to pass out. When I woke up, I was sitting in one of their office chairs. I had indeed passed out. They moved me to a wheelchair, called Labor and Delivery to let them know we were coming over and wheeled me across the street. They had me stand-up and get on a hospital bed and in the process of standing I thought my water had broken, but it was much worse. I had been bleeding internally this whole time!!!! So, from at least that phone call I had made the night before until this point of 10:43 in Labor and Delivery I was losing blood. What did this mean for my baby?!?!?!

A nurse came in and started getting my vitals and they brought in a portable ultrasound machine. The nurse getting my vitals said, “there is your heartbeat.” I don’t care about my heartbeat!! “Where is his heartbeat?” “Is my baby ok?!” Her response, “I am trying to find his heartbeat.” TRYING? You are TRYING?!?!?!

The other nurse used the portable ultrasound machine and mentioned abruption. Abruption?? Like what I read last night!? They immediately called my OB and she raced over to L&D. She explained everything to me. My placenta had detached from the uterine wall. I was bleeding internally and Jackson was losing nutrients and oxygen. We needed to do an emergency c-section.

Now remember that my appointment was at 10:30, by 10:43 I was over in L&D getting examined and then prepped for an Emergency C-Section (which I was awake for). At 11:25am on October 20, 2017, Jackson was born. Daddy went with Jackson the Specialty Care Unit, while I awaited my fate in the OR. Daddy made it to the OR after he was out, so I sent him with Jackson, as there was nothing else he could do for me and our son would need him. I remained in the OR for what seemed like hours while my Dr. worked to stop the bleeding. In the end, I was borderline for needing a transfusion, which I refused due to even the slightest risks associated with that and opted for taking Iron Supplements.

I was wheeled by the Specialty Care Unit to see my son for the first time, but he had signs saying to not touch/startle him. So, I stared at his sweet face and all the cords attached to him and just cried. If I had listened to that dr the night before, didn’t have my checkup appointment the next morning and didn’t trust my motherly instinct, the two of us would not be here today.

It was that day that we realized just how strong and tough our little guy was, but we had no idea the obstacles he would be faced with later in life…

Learning I was a Fragile X Carrier

In June of 2015, we found out we were pregnant with our first child. This was a time of excitement and celebration! We had talked about wanting to start a family as soon as we got married, so our dreams were coming true quickly!

Around our 12-14 week checkup, we were told they could perform genetic testing, which would check for things like Downs, any of the Trisomies, etc. and they would also be able to tell us the gender based off of a blood draw. As I am adopted and the insurance company was covering the tests, we agreed to do them; I mean learning the gender earlier than you normally would was incredible and we didn’t really have anything to be worried about with the genetic testing…or so we thought.

A couple weeks passed and we finally got a phone call from the doctor’s office. They had our results. We found out we were expecting a boy! Now, at this point I actually cried, because I was 100% positive we were having a girl. I know there are a lot of mom’s out there that can relate. I think we all have built ourselves up believing we were pregnant with a certain gender only to be told you were wrong LOL! I also blame part of the tears on the hormones! Next, they had our genetics test results…

“You are a carrier for Fragile X Syndrome. You have a premutation with 78 repeats.”

“I’m what? Repeats of what? What is Fragile X Syndrome? Does this impact my baby??”

“At this time, we do not know if your baby is at risk, but we could perform an amniocentesis or you could wait until the baby is delivered and he could be tested.” “We also will get you setup with an appointment with a genetic counselor to talk through all of this with you.”

My head was spinning at this point. I was completely healthy. How on earth could I be a carrier of Fragile X? This was only 4 years ago, but at that time, if you Googled Fragile X Syndrome, there was not a lot of information to go off of and everything you read made you think the worst possible outcome. As this was our first child, we decided we did not want them to perform an amniocentesis, we didn’t want to risk anything happening to our baby. No matter the outcome, we would love that boy and raise him the best way we could.

Needless to say, the next 24 weeks, give or take, were stressful, wondering if our son would end up with Fragile X or be a typically developing child. The only people we told were my parents and my brother and sister-in-law (they are doctors). We spent a lot of time reading up on it and praying that everything would turn out okay.