Things not to say to a special needs parent.. 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.…
Wanted to give our readers some facts about mom!
- I am half Okinawan and a mix of Irish, Swedish, Welsh, German, and French Canadian.
- I can speak fluent Japanese.
- I love to bake.
- I took ten years of karate and I am a third degree black belt.
- I have two tuxedo cats: Oreo and Voltron.
- I love Romance novels.
- I hate my freckles.
- I was an Air Force brat.
- I love horror movies.
- I’m very self-conscious AND super awkward.
- I’m currently taking classes towards a degree in Medical Billing and Coding BUT I do have a B.S. in Health Care Administration.
- I love Olympic Weightlifting/Powerlifting.
- I LOVE FOOD.
- Buffy the Vampire Slayer is my jam.
- Knew my husband THREE months before we married–celebrated NINE years this past April.
- I hate cardio.
- I have an addiction to donuts.
- I hate the summer–specifically the humidity.
- I have ten tattoos.
- I have an unhealthy obsession with leggings/yoga pants.
- I am an active duty USMC spouse.
Thank you for taking the time to get to know me!
What are Inchstones?
Like most families I celebrated all of the typical milestones with my oldest, JJ. He reached all of his milestones early.. he crawled by five months, he walked by eleven months, cut his first tooth by seven months, he upgraded to a sippy cup by nine months, and so on and so forth.
So what does inchstones mean? Let’s do some math shall we (not my strong suit so bear with me lol):
An inch is an inch.
And 36,650 inches make a mile.
An inch is smaller than a mile but with a special needs child you celebrate every. single. achievement. No matter how small.
No longer needing thickened feeds, consume a 5 oz bottle in less then five minutes (use to take him an hour to consume one whole ounce), and eat small finger/table foods and snacks.
Jaxson just recently started to take two to four steps unassisted AND standing for a couple seconds before plopping down. HUGE ACHIEVEMENTS. Just six months ago he started to army crawl, then he started to crawl on all fours and sit up four months ago, pull up to stand and cut his first tooth three months ago.. and now look at him, 16 months old and taking his first unsteady step.
Potato baby no more!
|Pushing our vacuum around|
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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.
Thank god for family! I don’t know how I would do it without them!
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.
Today is Funday Friday!
|We do this for you Jaxson!|
|Batmom and Ninjago|
Next year I will ensure that I have a flyer or brochure of some kind to hand out for Funday Friday!
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.
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.
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
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
- Failure to Thrive/Feeding difficulties
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.
Our Baby’s Must Haves… I came across a blogger the other day and she had written about her daughter’s essential gear and I thought what a great idea!
I did mention briefly what worked for Jaxson but I figured I could list and discuss into detail what we used for Jaxson during his first year.…