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

An Open Letter to My Oldest Son

 Dear JJ,

I'm sorry.

Mommy is sorry for all of the times I have lost my patience with you. I know you don't understand now but I hope you understand when you get older..

You see, mommy loves you so much but she is overly stressed with taking care of your brother every minute of every day.

I know it doesn't make it right, but it makes mommy human. 

I know you get jealous and I am trying to do my best to juggle my time with you and your brother. You may not understand his condition but Jaxson needs a lot of my attention right now.

I love our movie and ice cream dates.

I love our tickle fights.

I love how you say "Smash-potatoes".

I love your creativity and imagination.

I love that even at almost five years old that you still love to give mommy kissies and cuddles.

I want you to know that I am so proud of the little man you have become. You are so smart and so sweet.

Love, Mom

Determination

Jaxson must be hitting a growth spurt or maybe it's because he's been around his older cousins while on vacation. He has been watching them and chasing after every single one of them at our BBQ.

He's literally doing so much and developing such an awesome personality.

Recently I wrote about Jaxson drinking out of a straw and how he's taking a couple steps before going face first into the ground. Last night he amazed us at 12:30 AM--yes, you read correctly AM. Jaxson is a party animal at night.

He started to push up on his feet and STAND for maybe a couple seconds. He did this so many times last night and would laugh, smile, and flail his arms back and forth with excitement. It was such the cutest thing. He was SO pleased with himself.

We also celebrated Airway Disorder Day 2018 yesterday--Did anyone else join us? I painted my nails light blue for my little warrior and he was rocking his Lu the Lamb onesie from Coping with LM.

He has a one track mind and is very determined but it'll definitely benefit him in the future. He's one tough cookie that's for sure!

Our First Flight!

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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.

21 Facts About Mom

Wanted to give our readers some facts about mom!

1. I am half Okinawan and a mix of Irish, Swedish, Welsh, German, and French Canadian.
2. I can speak fluent Japanese.
3. I love to bake.
4. I took ten years of karate and I am a third degree black belt.
5. I have two tuxedo cats: Oreo and Voltron.
6. I love Romance novels.
7. I hate my freckles.
8. I was an Air Force brat.
9. I love horror movies.
10. I'm very self-conscious AND super awkward.
11. I'm currently taking classes towards a degree in Medical Billing and Coding BUT I do have a B.S. in Health Care Administration.
12. I love Olympic Weightlifting/Powerlifting.
13. I LOVE FOOD.
14. Buffy the Vampire Slayer is my jam.
15. Knew my husband THREE months before we married--celebrated NINE years this past April.
16. I hate cardio.
17. I have an addiction to donuts.
18. I hate the summer--specifically the humidity.
19. I have ten tattoos.
20. I have an unhealthy obsession with leggings/yoga pants.
21. I am an active duty USMC spouse.

Thank you for taking the time to read about Jaxson and his family!

Aero Digestive Clinic

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Look at that double chin

Sunday we left for Birmingham, Alabama to see an Aero Digestive Team at the Children's Hospital. The ride was AWESOME, Jaxson did not scream for hours and did not throw up all over himself. We always dread driving with him but since switching him to forward facing it's been a lot more bearable lol.

Our appointment was SUPER early, 0745, so we decided to leave the afternoon before and stay at a hotel.

JJ had his Kindle Fire 7 Kids tablet and portable DVD player and as long as Jaxson had snacks and his bottle we were golden.

Eating some crackers

Left the hotel at 0700 and stopped for the essential... Dunkin Donut coffee with a turbo shot. Coffee has been a staple since the day this little peanut was born, lol.

Parking is ridiculous at UAB, if you ever go to see a specialist--GET THERE EARLY! Allow enough time to park and PLAN TO WALK A LOT. I brought my carrier this time and carried Jaxson through the hospital as my father in law pulled a Radio Flyer wagon (they provide these) with my oldest in it.

Thank god for family! I don't know how I would do it without them!

When we checked into Clinic 6, they had us go up to Imaging to have an x-ray of his chest done prior to the appointment.

Afterwards they took our little peanut's vitals and I should say that he's no longer a peanut.. he's a chunk chunk. He's a whopping 22 lbs now! If you would've told me he would go past 10 lbs this time last year I wouldn't have believed you! He's still on the short side, 29 inches, but that is to be expected in children with DYRK1A syndrome.

We saw a team that consisted of a Pulmonologist, Gastroenterologist, and two Speech Therapists. We mentioned our concerns and that we wanted a second opinion on his sleep apnea and gastro problems. Jaxson has been sleeping terribly for months now and I have been worried it's related to his diagnosed sleep apnea. It's probably more behavioral but I wanted to rule out the apnea to ease this momma's mind. 

Sleeping

Found that with his current weight that his dose of Zantac is TOO low so we will be adjusting that dosage to help with reflux. Sleep study will be scheduled for when we move up to North Carolina and possibly done at Duke. The chest x-ray came back normal as well!

Swallow Study

They sent us down for a swallow study to rule out aspiration for his choking and gagging on solids and his almond milk. He hadn't had a swallow study done since he was a month old so thankfully they put in for this.

HE PASSED. 

The barium swallow study showed no penetration when he consumed thin liquids, puree, and crackers. GREAT NEWS! I'm so relieved. The Speech Therapist who did the test thinks the choking and gagging is more Sensory related so I'm hoping I can expedite his Occupational Therapy referral with this information. 

I might look into this more thoroughly to ensure that it's indeed Sensory related.

Now I just have to worry about our flight on July 3rd, Jaxson has NEVER flown. 

Send good vibes please!

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.

Thankful Thursday

Thankful Thursday

Today I am thankful for....

Jaxson is no longer Failure to Thrive.

Jaxson can now stand unassisted for one to two seconds.

Jaxson can now take steps while holding my hands.

For our amazing friends and family.

For Jaxson's happy disposition despite everything.

How much my oldest loves Jaxson and wants to protect him.

Therapies that help Jaxson overcome this syndrome.. He surprises us everyday.

DYRK1A support page -- no longer feel alone in this journey.

For my strength and determination.

For my rock, my best friend, my husband James.

Warrior Wednesday

Today is Warrior Wednesday, and where do I even begin?

For Warrior Wednesday, they ask you to recognize someone who went above and beyond for your family. The only problem is that not just ONE helped us through this journey.

When I was at the Children's Hospital for a week, unable to leave Jaxson I had amazing friends who stopped by with coffee, snacks, watched Jaxson while I slept, kept me company, and JUST being there. You all are the real M.V.P. Thank you Jean R., Ashley P., and Naomi M. You all are truly amazing, thank you! Thank you for helping us with the boys and keeping an eye on them when we had to go to appointments, date night, or just needed a little break.

My dear friend Michelle R., you are truly a great friend. You came running to help when James and I were both down with whatever the heck that was--we couldn't eat or drink without throwing up--and couldn't even care for Jaxson who was sick as well. You also stopped by when we were in at the Children's Hospital to allow me to go down to get breakfast or coffee. Listened to me vent or cry when I needed it. YOU'VE DONE ANYTHING OR EVERYTHING! Thank you so much.

Lynne B., I'm so glad we met. You have no idea how thankful I am you were there when I got that phone call from our UAB team. I really appreciated you coming over a couple weeks ago to hang out and make some Okinawan Donuts lol. It wasn't much but it was fun! Thank you for everything, thank you listening, just thank you!

Our family The Carforas, going out of their way to help me go to University of Birmingham for Jaxson's Genetics or Aero Digestive appointments, taking us away for a weekend, listening and answering all of our questions--I love you all so much, thank you. Mom and Dad, thank you for raising me to be strong, I love you both so much.

My husband, you are truly a warrior too. You are an amazing husband and father and thank you for all of the sacrifices to support our family. I know it is difficult being away from your family but you do it to ensure that we have everything we need. I love you so much!!!!

Lastly, Jaxson's Pediatrician. Dr. Southwick went out of his way to ensure that we were seeing all of the right specialists, listened, and was and still is very thorough. I'm thankful to have you as my child's doctor and we will miss you when we PCS in the fall.

Thank you all from the bottom of our hearts.