Genetic Testing

We recently had our monthly meeting with our Parents as Teachers provider and during our session I mentioned something that has been on my mind for months…”I feel like a pioneer in regards to children with Fragile X Syndrome and partial methylation.”

Fragile X Syndrome is the leading known genetic cause of autism and intellectual disabilities worldwide; however, when parents start looking for answers regarding their child’s behavior and development the odds are if their child is given an autism diagnosis they do not do any type of genetic testing. I am NOT here to tell you what to do, but I do want to help inform you on other possible contributing factors that might help your family even more.

When a child goes to the doctor for an Autism Screening, they are assessing your child’s behavior and development. Most of the time, doctors are hesitant to make a diagnosis in a child younger than 18 months. If a child does receive a diagnosis of Autism, that is usually where things end regarding tests/answers. Parents take that diagnosis and work on next steps to help their child get the therapies and support they need, which is amazing! The one thing I want to stress here, is that there could be a genetic reason as to why your child has Autism.

Here are some stats from FragileXAwareness.com.

Number of carriers of the Fragile X premutation

  • Approx 1 in 468 Men
  • Approx 1 in 151 Women

Number with the full mutation of Fragile X

  • Approx 1 in 3,600 to 4,000 males
  • Approx 1 in 4,000 to 6,000 females
  • Approx 1 in 3 with Fragile X also have Autism

The last bullet is what I want to call out, 1 in 3 with Fragile X also have Autism! For me being adopted, genetic testing made total sense for us to do. Even knowing my biological parents didn’t uncover me being a carrier for Fragile X Syndrome. The other piece to a genetic syndrome/disorder is that some skip generations and some expand as they are passed down to the next generation, so while a parent might not show signs of something, it doesn’t mean that their child couldn’t have something.

If something seems off with your child’s development/behavior, it might be beneficial to ask about genetic testing too. The more informed you are, the better equipped you are to help your child and yourself. As I am a carrier for Fragile X, there are also things I need to be aware of; FXPOI, characterized as early menopause, decreased ovarian function, or irregular cycles. There are Social-Emotional Effects; increased risk for depression, anxiety and social anxiety. Males have to worry about FXTAS, Fragile X Associated Tremor/Ataxia Syndrome.

The more you know!

XOXO

Ear Infections, Speech and of course, FRAXA!

Hey all, sorry I haven’t been posting! We had sick kiddos and then I had a business trip and well….life!

So, let’s get to it!

Unless you have a child with Fragile X, you might not know that Ear Infections are a thing. At one point, Jackson had 4 infections from November until February. He actually had tubes put in February 2019 and during his surgery he had infection #5! What we did not know in February 2019 was that Jackson had Fragile X, so those infections now make more sense!

Now we are looking at our yearly follow-up with his ENT and need to have a heart to heart on what we can do for this sweet boy, because the tubes just aren’t cutting it. Since February, he has had a handful of ear infections or double ear infections that have not responded to the drops, because the tube has clogged or somehow fluid got behind the tube. So, we have to make trips to the dr for an oral antibiotic….ugh! Not sure if this dr is familiar with Fragile X and the issues with their ears, but we are hoping to prevent the frequent infections, because that is also not helping his language development. Poor dude!

Speaking of language….Jackson has a new speech therapist that we are loving! He did not take well to his first therapist, so we had to contact First Steps to see about getting a new one. As we are only able to take advantage of these therapies and services through First Steps until his 3rd birthday, if you aren’t happy with the services you are getting or your therapist is just not a match for you and your family, you need to act quick to get someone new assigned to your child’s case. So, Jackson is now getting speech once a week and things are moving along! We are currently working on B’s, M’s, D’s and a few other sounds. He is saying words that we can understand, but others might not recognize them just yet. He is also doing a great job of showing us what he is trying to communicate, which is great! He has only had 3 session so far, so more to come!

Now our most recent news to share today is that Jackson has been selected to be featured as the Friend of FRAXA on February 24th! FRAXA is the reason we were able to travel to Ohio as they have funded the research studies that Jackson took part in. They are a non-profit that funds research and clinical trials aimed at finding effective treatments and ultimately a cure for Fragile X. Pretty exciting stuff! If you are on any of those platforms check out adding/following FRAXA Research Foundation and if you are in a giving spirit, consider donating to FRAXA, a group that is very near and dear to our hearts!

XOXO!

Mental Health and Wellbeing

Today I wanted to take some time to talk about things that people go through daly. Now, this isn’t just something that should resonate with parents of a child with special needs or parents of a typical developing child, but all people.

My husband and I both work full time jobs. For me, I can say I put in 40-45 hours a week, depending on the issues that come up. For my husband, I can say he easily puts in 50-60 hours a week, if not more. Now, on top of that we have 2 boys, Carter, who will be 4 in March and Jackson, who just turned 2 in October. Then, factor in that I started a new career in a new industry in May 2019 and then received Jackson’s diagnosis in August. That would be enough to send anyone’s stress levels through the roof and it takes a lot to stress me out. I made it to 35 before hitting my breaking point…not bad!

In this short amount of time from receiving Jackson’s diagnosis to December, I found myself having difficulty coping, some days I wanted to cry for no reason and some days, I did. I found myself taking out my stress on Carter, getting a short fuse with him, when in reality, he is just a 3 year old being a 3 year old, but the stressors from work and raising Jackson, just overwhelmed me. That is not fair to Carter or anyone else in my life. He is literally one of the greatest kids (I am not biased at all)! So, I finally called my doctor and asked for help. I was prescribed a medication to help with my anxiety and depression. Some days are better than others and that is to be expected, but what I really want to stress here is DO NOT BE AFRAID TO ASK FOR HELP. You are not weak, if anything you are strong for realizing you can’t do this on your own and you don’t have to.

Another thing I wanted to share, is the power of love/kindness. Last night, I ran into a friend at the grocery store and when we saw each other both our faces lit up. We hugged and chatted for a bit and it was so nice. The best part of that encounter though was her hug. Maybe it is that I see her as more than a friend, like another mother to me, but her hug was something I didn’t even know I needed until it happened. She made me feel like I was in a safe space. A hug or a kind word can really help a person out. Today and every day, I ask you to spread kindness. I know it might not be the easiest task, because you might also be having a rough day, but if we all do our part to spread kindness/love it would be a much better place!

XOXO

Public School System Struggles

My entire life I was in a Private School, from a Lutheran Preschool to Catholic Grade School and High School, so trying to navigate the Public School System is a little overwhelming to me, but add in a child with Special Needs and my anxiety is now through the roof!

One of the great things about our public school system is that Jackson should be eligible to receive an education at no cost and receive all his therapy services there. Sounds great, right? Wrong!

Jackson does not turn 3 until October, so we cannot enroll him in school until then, but open enrollment begins tomorrow for classes starting in August, so the odds are stacked against us on them having a full time spot still available in October. The next piece to that is if Jackson can get in to Part-Time, then we would still need child care for him the remainder of the days/times that he cannot be at his new school. The school would offer bus transportation to him if he was at a daycare in the district, but he isn’t, so to take advantage of that, we would have to find him a new daycare, which let’s be honest, spots are limited at a good place and to find one that can care for a special needs child is like finding a needle in a haystack and add to that it has to be within certain boundaries….forget it.

So, let me break this down….to enroll our son with Fragile X Syndrome in the Public School System for Preschool we must move him from his current daycare to a new one within the district’s boundaries, hope there is a spot for him 3 months after the school year begins or enroll him in part time days and have him shuttled back and forth between schools to get his services. How on earth does that help a child who already has crazy anxiety?!?! How does this help a child succeed and grow?

Now on top of figuring out what we need to do for Jackson we also wanted to move Carter at the same time, so to do that I need to go to open enrollment tomorrow night and sign Carter up, but we didn’t want them starting until the same time to avoid multiple drop-off’s in different directions. However, they bill one month ahead, so we would sign Carter up to start in October, but have to start paying in May to cover August, then September and finally October. So at that point, you might as well move him beginning in August to avoid paying at two schools, but what is the point if there is no guarantee his special needs brother, who should be able to benefit from the public school services cannot be enrolled yet?

This is just one of the hoops/red tape we have to go through. We are doing everything we can to help our children learn and grow, doing whatever we can to get Jackson all the resources he needs, but none of this is easy.

Spread awareness about another flawed system!

XOXO

Not Skipping a Beat

When you have a child with special needs you want nothing more than to make them feel included and as “normal” as possible. As a parent and their advocate you push to ensure you do whatever you can to make that happen.

Over the weekend, we started back at the Little Gym. Carter had previously been going over the summer and absolutely loved it. Recently, he had been asking to go back and we remembered Jackson standing outside the door begging to be part of the class. So, we signed up both kiddos this time.

Carter was the only guy in his class, which he didn’t mind. He also is the best in his class, which makes this ex-gymnast mama super proud! He loves being with the other kids and is always so proud of his accomplishments, as he should be. As soon as we got there, Jackson was ready to go too! He stood outside of the door with his hand on the handle a few times, let out some shrieks of excitement and flashed big, cheesy grins.

Finally, it was class time. This was the biggest class by far that we have seen in our time there, so of course my mind went to:

  • “Will he be ok with this many people?”
  • “If there is an activity on the big red mat will he run into the other kids, because he just isn’t aware of his surroundings or space?”
  • “How will I react if someone says anything about my kid acting different, if he does?”

Well, let me tell you that HE WAS INCREDIBLE!!!! The amount of people was more of an issue for me than Jackson. During his warm-up time he did the exercises like walking in a circle holding my hand, running in a circle and jumping (bending his knees and popping up, so cute!). The next part of class is “exploring”, where the kids have free range of the gym and can check out whatever they want. His first event was to check out the parallette bars that are down on the floor. He loved holding on to them and walking up the mat and then going back down. His next adventure took us to the high beam. He showed no fear as he climbed up the steps and started walking across it…holding my hand, of course. Then, we moved on to the rocking mat. This requires you to use your core muscles to walk as it rocks up and down based on the shifting of your weight. I was nervous about this one more than I was the beam, but he stood up on it and walked back and forth like he had been doing it for years!

One of the things associated with Fragile X is poor muscle tone, so getting Jackson in these classes to help with that, but to also make him feel included in fun things that his friends and big brother does is just another step in our journey to help this guy live his best life! Looking forward to our next class this weekend!

XOXO

Cincinnati Update

Day 1

Hey all, sorry it has taken so long to post updates. Upon leaving Ohio, Dan ended up sick, I have been recouping from an illness over the past month and Jackson has an ear infection…craziness!

Anyway, let me get to it! Jackson participated in 2 development assessments and 1 play based assessment on Monday. These assessments were the same as the ones he initially completed in July. He did great with shape sorting, social skills are off the chart, wonderful at identifying body parts on a doll and himself, etc.

Then, we headed back to the hotel for nap time, however, Jackson decided he didn’t want to nap. So, after a 2 hour break and a trip to Kohl’s in Kentucky to buy a Musical Giraffe to help Jackson sleep at night, we headed back to the hospital for the next set of tests. As you can imagine, he was not very happy to have people in his face trying to get him to participate in a NIRS test (wearing an itchy cap with electrodes on it), but we were able to get him to sit still long enough to get 10 minutes worth of data. Next, we participated in an EEG study. This time Jackson actually sat still the entire test thanks to being able to splash around in a bucket of water.

The last part of the day was really hard. Jackson had a blood draw that took 4 people to wrap him in a blanket and hold him down while I stood in the corner and blew bubbles to keep him distracted…didn’t work! After all that fun stuff, we packed up and headed back to the hotel to order dinner and get some much needed sleep.

Day 2

This day was a lot more low key, which was definitely welcomed. We first met with the Clinical Psychologist, Division of Developmental and Behavioral Pediatrics. She was incredible. She gave us a lot of tips regarding speech therapy and also helped us understand some behavioral issues we experience with Jackson daily, such as headbanging when we tell him no or take away something he can’t have. It will take some getting used to in changing how we communicate “no” to him and phrase things differently, but who doesn’t love a good challenge?

Next, we met with the Assistant Professor, UC Department of Psychiatry and Behavioral Neuroscience; Psychiatrist, Division of Child and Adolescent Psychiatry. She was also amazing! We learned that they are successfully treating mice with Fragile X, which is very positive news. She called Jackson “gifted” multiple times, because of how well he was doing with everything. She reassured us we were doing great with him and all his early intervention therapy, redirecting him when he is frustrated and really made me feel like everything we have been doing to help him excel has been worth it…no matter how tired we are, no matter how many hours in a day are spent thinking about what else we can do to help him, no matter how many minutes we spend making dr’s appointments, meeting with new therapists or having conference calls with medical professionals…Jackson is absolutely WORTH IT!

Results

Most of the tests/research were really for furthering ongoing research/studies that the Children’s Hospital is conducting, but we do expect results for some tests in 1 month and others in 6 months. We are not exactly sure how much of it will be actionable, but building up Jackson’s file will really help us if/when new studies or trials come up. So, while this might not be what you expected to come out of this adventure, we are happy with how it went overall and cannot wait to see what the future holds!

XOXO

Day 1 is done!

Jackson was a rockstar today!! He had 3 assessments, a NIRS test, EEG and some blood work done today and he crushed it all!!

We have had a very busy day today at the Cincinnati Children’s Hospital. Jackson is doing a lot of assessments and tests that will further Fragile X Syndrome research and also give us more insight into his specific diagnosis. With Fragile X, there are things like methylation that play a part. For Jackson, he has methylation mosaicism; partial methylation, which means his brain is partially generating the FMR1 protein that’s needed for brain development. That is a great thing!! Other children with Fragile X could have full methylation, which means no protein is generating.

Our long term hope is one day doctors can use this research and tests to find a way to replace the impacted gene or add the missing protein. Until that day, we live our lives to the fullest. We might have to take the scenic route some days, but we wouldn’t have it any other way.

Now it’s off to bed…we are all exhausted!

XOXO

Cincinnati Children’s Hospital Here We Come!

Hey all! I hope everyone enjoyed their holidays with friends and family. We survived all the craziness…barely, but it was a nice time to visit with everyone and catch up.

Now that we are in the new year, we are eagerly awaiting our trip to Ohio and cannot wait to share with you everything we learn. I want to be as transparent as possible with everything, after all, that is one of the reasons we have this blog. So, to give you a glimpse into the next few days for our little man here is our schedule:

Day 1

  • Developmental Assessment – 1 hr
  • Developmental Assessment – 1 hr
  • Play based Assessment – 1 hr
  • Lunch/Nap
  • NIRS Testing – This is similar to an EEG where he will wear a cap and watch some videos – 1 hr
  • EEG – 1 hr
  • Blood draw
  • MRI while he sleeps – Attempt #1

Day 2

  • Clinical appointment with Psychological Services
  • Clinical appointment with Fragile X Psychiatrist/Pediatrician
  • MRI while he sleeps – Attempt #2, if unsuccessful Monday night

We have a busy schedule and this will be a lot for our boy, but we are very excited to have found this Fragile X Clinic and to have these doctors in our corner as we continue on our Fragile Xperience.

Stay tuned to see what we learn and thank you to all our friends and family for the continued support. It truly takes a village!

XOXO

New Year, New Beginnings

2019 was such a crazy year for our family. We continued to push for answers on why Jackson was showing self harm behaviors and developmental delays, as we knew something was not right. We had so many different appointments to get these answers to finally get a diagnosis of Fragile X on August 5th.

A few days later we said goodbye to the Matriarch of our family, my grandma. That woman taught me a lot through my life. She was one of the most selfless people I have ever known. During the holidays, she always made sure everyone had a warm meal and a place to go, you didn’t have to be related by blood…to her, everyone was family. Over her 95 years of life, she maintained a huge circle of friends most people would be envious of, I was! But I think one of my favorite traits about her was her zest for life. She loved adventure and traveling. She always had a suitcase packed and was known for saying, “Where are we going?” She was always ready for a new trip, a new adventure and to make lasting memories. She clearly left her mark on my heart.

As we move into 2020, I am ready to make new memories with our amazing boys. I am ready for our trip to Ohio in January to get some more answers on our new journey of Fragile X and help Jackson in any way that we can. I am ready to see all the milestones he will hit, ready to see how much Carter grows into his role as a big brother, see all the new things he will learn this year, and see what the future holds for our little family in general.

I look forward to celebrating holidays with friends and family, making memories, and just living the life we have been blessed with.

I wish all of you and your families health, happiness, unconditional love and the opportunity to make lasting memories, go on those adventures you might have put off before. Seize life!! Happy New Year!

Merry Christmas!!

Hey all, as the holidays are rapidly approaching, I wanted to take the time to share some insight. I don’t want this to come off as being rude or pushy. I want this to help inform others to something you might not familiar with when it comes to encountering a special needs child. **Full disclosure, I am no expert in all things special needs. This is just something I know in raising our son and have witnessed with other special needs children. Not all disorders, syndromes are the same, but this is a great rule of thumb for typically developing children and special needs children**

Jackson has severe anxiety, which I have mentioned in previous posts. When he encounters a new person, he is very apprehensive, needs to be held by mom or dad, tears could ensue. He really just needs his space to get comfortable with new surroundings and people. To help you understand how bad his anxiety is, he even has it with me and his daddy at times too. If we go out on a date night…not very often and come home after a few hours, there are times that he won’t leave his sitter’s arms until he feels comfortable again.

Please do not take offense to a child reacting this way. Honestly, think back to when you were child and remember going to Grandma’s house and everyone making a huge fuss over you, trying to hug you, kiss you, 10 people start talking to you at once. It was a lot to deal with the first 5 minutes of being in the house. So, for a child with Fragile X like Jackson, who doesn’t speak yet, please respect those children and give them some time to feel comfortable with you. I promise once they do, you will have some pretty great interactions!

From our family to yours, Merry Christmas! We hope you enjoy the holidays and make some great memories to wrap up the year!