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.
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| 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.About our DYRK1A Warriors:
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! |
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| 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!
Related Links:
DYRK1A Facebook
DYRK1A.org
Simons VIP Connect
Labels: Advocate, Awareness, DYRK1A, Special Needs, Tribe
posted by JaxsonsMomJennie @ August 19, 2018
40 Comments
40 Comments:
I don't understand why insurance companies can be such a pain to work with. You would think they would rather you have answers to be able to possibly prevent more expenses (that's all they care about) in the future. Facebook support groups can be amazing! I'm in a mommas group for babies born in June 2013 (my oldest) and even though I've only met 2 in person, we have a strong group of women from around the world that I consider my friends and support.
Good luck with it! Testing (when available) is so important... it really does help to know what you are dealing with, not just that vague "Something is really wrong..."
I love how social media platforms like Facebook can not only serve as a support group but also as a platform to raise awareness. I’ll definitely do my part on the 21st.
Never heard this syndrome before, at least this word because I already know kids who have these symptoms. Your little boy, Jaxson, is so cute. As long as he has a normal life and is happy despite the difficult situations he comes through, he is always a perfect human being and an adorable little boy.
I had never heard of this condition before. Thanks for providing info on it. I shared it on FB.
Jaxon is gorgeous, a very inspiring read. Brave and honest post. well Done you on being a great mum x
Jade
You have such a little cutie! I have never heard of this before, but that's why spreading awareness is so important! I have an auto immune/endocrine disorder that is not widely known, so I totally get the importance of awareness, education and funding for future research and testing. In regard to the insurance companies...they can be a pain. I don't understand why they won't cover certain things. Sigh! Keep fighting the good fight ;-)
Well done promoting your awareness. Hope the future all turn outs great.
I don't even know what this syndrome is - and now I have to do some googling!
raising awareness is so important indeed! Let's hope that there will soon be a day where everyone will be well educated about syndroms and cheers to all that struggle!
I honestly think the best thing we can do is educate others! I find that people jump to all sorts of bias or negative opinions when they lack the education about certain syndromes!
I completely agree! It's absolutely crazy, I was fortunate enough to not have to deal with them denying it. My momma bear would've came out LOL. I love Facebook support groups too, I'm still in one from August 2013 LOL. I also have one for Jaxson, February 2017.
Thank you Christa Anne! :)
Thank you Helene, they should definitely look into DYRK1A Syndrome!
Thank you for sharing Marianne!
Thank you Jessica!! I wish you the best with your auto immune/endocrine disorder! I hope you get the answers you need <3
I feel so upset that insurance companies make it so difficult for families to get the help they need for their children. Raising awareness is so important, children with these syndromes have such a stigma of "being a bad thing" but I will tell you....some of the most beautiful, kind and giving people I have ever met has had some syndromes like this. They are real and love better than most because they don't judge people or tear them down. Good job Mama. You are doing it right!
I'd never heard of DYRK1A syndrome before, so consider your awareness campaign working. It's amazing how social media can bring people together and remind us that we are not alone in our struggles and our successes. Keep up the good work.
Jaxson is such a ray of light! Also, just finding out about Dyrk1a and will definitely efucate myself about it. Happy you were able to find a warm and welcoming support group
Thanks for the awareness on this because I've honestly never heard of it. I'm sorry you are dealing with the downsides but I love the list of positives - especially about kids being fierce and brave. Love it!
What an adorable little champion you have! I'm glad that he is excelling with therapy, it is very under utilized for a variety of disorders. Fingers crossed that you have no more insurance worries in the future. Thank you for sharing your story.
What a sweet little boy! I've never hear of DYRK1A syndrome before. Thank you for shedding light on it! Its great that we have social media to help spread awareness on things that we may not know about.
Thank you for spreading awareness. I had never heard of this disorder but I bet this will help some families who are stuck in the land of unknown.
Your little guy is so handsome! I'm so sorry you guys have to go through this, but I'm also happy for you that you're choosing to move forward in positivity, and you've found such an awesome support group. Sending love! I just want to hug him. <3
First of all I HATE having to deal with insurance...they suck! Second of all, I think it is so special and important that you continue to share your story ❤️
Your baby is so cute!! I never heard of DYRK1A before - I'm a prior auth nurse - my advice is to make sure the lab or MD sending the request for genetic testing is sending ALL the clinical information to the insurance company. You wouldn't believe how many requests are sent with minimal information which makes it hard for our medical directors to approve.
Thank you Crystal! That is great information, I will have to relay that to all of the families on there! <3
Thank you Hotmess Mom! <3
Thank you Miss Angie! The whole reason I started blogging was to try and help others <3
Thank you Donna! I hope our awareness day will be even BIGGER next year!
Lol, it's so new! No one really know :)
Thank you Chelf!
Thank you Liz! It's definitely one of the reasons why we started the awareness day, shine light on the positives!
Thank you Stephanie <3
Thank you Samantha! <3
Thank you <3 We all want the world to know that they are amazing!
Thank you Ray! <3 Social Media is amazing for things like this!
Thank you so much Danielle! They are definitely the most beautiful and kind individuals! I love his happy disposition despite everything. His laugh is infectious! <3
LOVE how you are using your own personal family experience to educate and spread the word about this condition. Good on you and I wish you all the best xx
I appreciate the work you are doing to bring awareness to this syndrome. Before reading your post I didn't know anything about it. Way to be a strong momma and set an example for your kids!
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