DYRK1A Syndrome Awareness Day!

Hello friends!

As most of you know Jaxson has a condition called DYRK1A syndrome, and was diagnosed April of this year. Since his diagnosis we have found an awesome Support Group on Facebook! There are families from all over the globe on this support page, and currently we are sitting at about 205 families! That is AMAZING. With the new technology of genetic testing more and more families are getting long awaited answers for their children! Some have waited over 15 years to get answers!

Over 200 families!

Since joining this group I have become a member of their Work Group with a goal to become a Non Profit Organization. With this we established an Awareness Date, August 21st, which is significant because this syndrome is found within the 21st Chromosome.

Related Post: Telling Tuesday.

There was a Meet Up in July where many DYRK1A families came together to meet and celebrate with their warriors. There were a lot of guest speakers present as well, they are conducting research of our children to help us and others to understand DYRK1A better. DYRK1A is so new that there is not very much literature out there about it.

Here are some statistics from the new study that was conducted:

• 98% had intellectual disabilities or global delays
• 100% had speech delays
• 100% had motor difficulties
• 93% had microcephaly
• 93% had feeding difficulties
• 79% had vision abnormalities
• 67% had seizures
• 46% had an ASD diagnosis
• 61% had stereotyped behaviors
• 31% had anxious behaviors
• 29% had hyperactive behaviors
• 83% had behavioral differences
• 60% had 6 or more symptoms including ASD
• 76% had 6 or more symptoms including broader behavioral difficulties

-Thank you to the team from Bernier Lab for providing this information.


Below is an image from Simons VIP Connect with features and the genomic location of DYRK1A.

DYRK1A Features

About our DYRK1A Warriors:

For Awareness Day, I wanted to show the world that there are positives about our DYRK1A children. Positive you may ask? Many look at the negative when they learn about Jaxson and other children with DYRK1A and their condition. Our children are very, very happy! Despite everything they go through, all of the challenges, they are happy. I think that's one of the reasons that makes this journey so worth while. Jaxson is goofy just like any other child, he loves to play with his big brother's toy cars, he loves pancakes, he loves to be twirled around, and loves jamming to the movie Trolls just like his big brother. And if you talk to any other family they will tell you the same about their child.

Our children are fierce and determined. 

The Importance of Genetic Testing:

I've come across a few families who were having difficulties with getting their insurance to pay for genetic testing. I want to raise awareness of the benefits of having genetic testing done. Having genetic testing done can benefit the family because if it comes back positive they can start looking at prevention, monitoring, or treatment options. Jaxson has been in Physical Therapy since October of last year and it has done wonders for his development. He just recently started walking, unsteady but walking! Feeding Therapy has benefited him as well, before it would take him an hour to drink 2 ounces of milk! Now he's drinking 5-6 ounces of milk in less than 5 to 10 minutes! We are in the process of getting an Occupational Therapist as well. Early intervention is definitely beneficial for our children, so why are these insurance companies denying genetic testing referrals?

Super Jaxson!

Jaxson hanging out in the kiddie pool!

Conclusion:

To conclude this, I ask that you help us raise awareness about DYRK1A. Help us let the world know how proud we are of our children and their accomplishments! Help us educate the world about DYRK1A and the importance of genetic testing!
Please join us on August 21st by adding our DYRK1A Syndrome frame to your Social Media photos!

>>CLICK HERE TO JOIN OUR CAMPAIGN<<

Related Links:

DYRK1A Facebook

DYRK1A.org

Simons VIP Connect

200 Strong

DYRK1A

As mentioned in my Telling Tuesday post, changes in the DYRK1A gene--located in the 21st Chromosome--have been linked to:

• Intellectual Disabilities
• Microcephaly
• Speech and Language Impairment
• Seizures
• Autism

and more (DYRK1A, 2018)..

200 Strong

As of the beginning of July, we have reached 200 families with DYRK1A Syndrome. Our Facebook group founder, Amy C., started the group in 2014 with one other member from the U.K. and reached up to 100 families within the first couple years. NOW, we are at 200 families! Amazing. The community is filled with so much experiences, knowledge, and love despite all of us being located across the globe.

DYRK1A Chart

A VILLAGE

It really does take a village. I do not feel alone in this journey even though the only interaction I have had with these families are over the computer with the use of social media--with the exception of meeting the Cobb family. We all have a common goal, to raise awareness, to put ourselves out there and be known. Not even a language barrier can stop us. I can't wait to go to the next Meet Up in 2019 and meet our growing family!

SPARK

I've decided to go back to school as well with our recent diagnosis of DYRK1A. I want to be able to work from home and take care of Jaxson when he ages out of school. I don't want to have to worry about him in the future. I'm currently pursuing a degree in Medical Billing and Coding at Ultimate Medical Academy--boy it's tough! Definitely tough trying to focus on my academics and juggle two kids but Jaxson and his brother JJ have put a spark into me. A huge spark to better myself and keep fighting.

I'll be graduating with my degree in February 2019, if you know of any organizations or companies that need a Medical Billing and Coder please let me know!

References:

DYRK1A. (2018). Retrieved from http://www.dyrk1a.org/start-here

Flashback Friday

Flashback Friday!

In honor of Flashback Friday AND Airway Disorder Awareness Day (July 10th).

Jaxson at one month old (left) having trouble breathing, eating, and gaining.

Jaxson at sixteen months old (right) eating anything and everything. Can drink 5 to 8 oz of milk in less than five minutes.. AND BREATHING EASY.

Please support Jaxson and his fellow Laryngomalacia Warriors with painting your nails light blue for Airway Disorder Awareness day on July 10th, 2018.

Show your support by tagging/sharing with us on Facebook or Instagram! Tag your photos with #AirwayDisorderDay2018 #LightBlueforLM

Thank you from Jaxson's Mom Jennie

Our First Flight!

DISCLOSURE: As an Amazon Associate I earn from qualifying purchases.

Boy let me tell you how nervous I was prepping for this flight! I have flown before, many, many times before. I was an Air Force brat who PCS'd every few years, flown with my oldest a couple times... I'm seasoned when it comes to flying.

HOWEVER.. Flying with TWO children and ONE with Special Needs? That had my stomach in knots. I made sure I packed enough snacks of fishies, veggie straws, formula, and packed some toys and my son's Kindle Fire tablet.

I was a sweaty mess when we got to the gate.. got onto the plane and the stewardess looked at me with disbelief and asked: "Do you have anyone to help you?" I shook my head no and kept on trucking to our row of seats at the back of the plane.

I didn't have have time to stop and purchase water after going through TSA so I asked the stewardess for a bottle of water. She gave me a HUGE bottle and recommended that I had something for him to suck on during take off..

Made me even more nervous.

I had his bottle prepped and ready, JJ playing his Kindle Fire, and the plane started to move. Then the plane started going faster and faster.. then the ascend. And you know what Jaxson did? He LAUGHED.

Yes, you read correctly, he LAUGHED.

He even laughed during the DESCEND.

I don't know if it was a fluke or what but I hope our flight back to Florida is a breeze too!

Things Not to Say to a Special Needs Parent

Things NOT to Say to a Special Needs Parent....

DISCLAIMER: I am NOT writing this to offend anyone. I AM writing this to show awareness and to be mindful of what we say to Special Needs parents. I asked around a Facebook page today and asked what phrases or words people (friends, family, and strangers) have said that upset them... 

When we were at the Naval Hospital in the very beginning, Jaxson was about three months old and this older lady strikes up a conversation with me. I know she meant well but when she asked how old he was and I replied with: "Three months old," she gave me this look. She thought he was ONE month old, not THREE months old. I know she didn't KNOW that our baby wasn't thriving but it made me feel upset nonetheless. At three months old he was barely a little over his birth weight of 6 lbs 10 oz.

When I tell new people about Jaxson's Rare Chromosome disorder I get a lot of crickets or blank stares. It's not intentional, I know that, it's hard to comprehend--I'm even having a hard time learning about it myself. JUST SO MUCH INFORMATION! I love that I have been able to find a special tribe that understands this journey of ours along with the outpouring of love and support from our friends and families.

"He'll get better or he will outgrow it.."
Unfortunately with certain Rare Genetic disorders is that they aren't going to get better like someone would from an illness or outgrow it like a child outgrows training wheels. Our warriors just learn to LIVE and ADAPT to their disabilities. Jaxson surprises us every single day with his accomplishments!

"Your child doesn't look sick or he doesn't look autistic.."
I know it's meant to be nice but in all honesty, it really isn't. When someone tells you about their child and about their Special Needs or Rare Genetic Disorder, please don't tell them they do not look sick, they look normal, or happy. A Special Needs child and a child with a Rare Genetic disorder do not fit a specific "mold" or "one size fits all" so to speak. Two children can have the same genetic disorder but exhibit different symptoms and features.

"How old is he? ...Really he is?"
Like most of the children with Special Needs or Rare Genetic disorder, Jaxson is developmentally delayed and speech delayed. His physical therapist stated that he is at about 8/9 months delayed so that would put him at about a 8/9 month old child level based on that diagnosis. So yes, he acts and appears to be younger then he is but he is 16 months old. I know this is unintentional like the Naval Hospital incident but it still makes me and others upset when are children are compared to others their age.

"Have you tried changing their diet..?"
Yes. Yes we have. Jaxson has mild dysphagia which makes it difficult to swallow, he has come a long way with Feeding Therapy but it still lingers. Because of his Rare Genetic disorder, we aren't sure if it's going to be a temporary thing or if it's going to be long-term. Children with G tubes, NG tubes, etc. They're on there for many different reasons, and asking them if changing their diet or have you tried changing your child's diet isn't something they want to hear. Like most, they've exhausted every possible avenue prior to having their children undergo life saving surgery for a feeding tube.

"He/She doesn't act like so and so's child.."
I haven't dealt with this personally but a couple of moms on the Facebook page have and nothing is more disheartening or upsetting to hear that your child is anything but "normal." Please don't compare Special Needs children to other children.

I know I am super POST HAPPY the last couple days. I just really enjoy writing for this blog.. it feels very therapeutic.. like I'm finally lifting all this stress off of my shoulders. I hope I will be able to help someone else who is struggling for answers.

Want to share your experiences with me? Please leave a comment or message me, I would love to hear from you.

Support Saturday

Rare Chromosome Awareness week is coming to an end...

Today is Support Saturday, and what does that mean? You can either donate to Unique, other rare chromosome organizations, research... OR just show your rare chromosome family support by helping raise awareness and just being there for them!

Whatever way you choose to Support our Unique family, Thank you. Thank you so much.

I hope you all enjoyed reading my blogs for the Rare Chromosome Awareness week!

Also, please follow our blog for future posts about Jaxson and his family! The follow button is up top on the right.

Funday Friday

Today is Funday Friday! 

We do this for you Jaxson!

We dressed up as Batmom and Ninjago in honor of Jaxson today for Rare Chromo week. Whenever someone told us how much they loved our costume we mentioned it was for Rare Chromosome Awareness week! 

Movie date

I also went to go see Jurassic World with my oldest for a little bit of a mommy and JJ date. I like to make it a point in spending time with just JJ since I give a lot of attention to Jaxson with everything going on. We definitely had fun! Even bought some ice cream afterwards.

Batmom and Ninjago 

FLEX

Next year I will ensure that I have a flyer or brochure of some kind to hand out for Funday Friday!

How did you show support on Funday Friday?

Telling Tuesday

June 17th - 23rd is Rare Chromosome Awareness Week and I wanted to participate in it as well. As you know from my first post Jaxson has been diagnosed with a rare genetic condition they call DYRK1A Deletion Syndrome.

Jaxson watching Baby Signing Time

What is DYRK1A exactly?

DYRK1A is a gene that is involved in brain growth. It was identified several years ago but only recognized to be associated with a neurodevelopmental condition in 2008. The DYRK1A gene is on chromosome 21q22.13 and is one of the genes that is missing in the 21q22.13 deletion syndrome. When we compare children with the 21q22.13 microdeletion syndrome and those with changes in the DYRK1A gene, many of their features are similar. We now think that the key features of 21q22.13 microdeletion syndrome are caused by absence of DYRK1A (RareChromo, 2015).

Other names for DYRK1A:

• Dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
• DYRK
• MNBH

Features Associated with DYRK1A:

• Autism Spectrum Disorder (ASD)
• Epilepsy/Seizure Disorder
• Intellectual Disability/Developmental Delay
• Small head/Jaw
• Difference in Facial Feature
• Small size during Pregnancy
• Abnormal gait
• Hypertonia
• Failure to Thrive/Feeding difficulties

Other Symptoms:

• Gastrointestinal 
• Cardiac
• Skeletal
• Genitourinary

Cases of DYRK1A:

• To date there are 188 families on our support page with loved ones who have the DYRK1A deletion syndrome.

Rare Disease Statistics 2018:

• In America, a rare disease is when it affects less than 200,000 people. 
• Signs and symptoms of rare diseases can differ in each individual who has the condition.
• On average it takes FIVE years for a rare disease to be correctly diagnosed.

The day we got the diagnosis April 25, 2018

References:

DYRK1A and 21q22.13 Deletion. (2015). Retrieved from https://www.rarechromo.org/