Saturday, June 30, 2018

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!


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Thursday, June 28, 2018

Inchstones Not Milestones

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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Tuesday, June 26, 2018

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!

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Saturday, June 23, 2018

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.


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Friday, June 22, 2018

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?



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Thursday, June 21, 2018

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.






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Wednesday, June 20, 2018

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.






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Tuesday, June 19, 2018

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/


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Sunday, June 17, 2018

Our Survival Gear the First Year

Disclosure: As an Amazon Associate I earn from qualifying purchases.
Our first year of baby products

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. I'll post pictures of the items as well!

List of Jaxson's Gear:


List of Medications:

  • Zantac - 2 mLs twice a day for Reflux/GERD
  • Miralax - 1 tsp a day for constipation

First and foremost the Rock n' Play! This was a LIFE SAFER! We used it for our first born and we figured 'hey, what the heck let's buy it for our second!' We didn't realize at the time that it would definitely benefit us and Jaxson to have that in our house. Jaxson spit up A LOT and had really bad Reflux/GERD so we had to keep him upright frequently.

Jaxson sleeping in his Rock n' Play!
Boppy Pillow: Like the Rock n' Play we used the boppy to sit him up at an angle after each feed. I did use the boppy pillow A LOT the first few months to help hold him while we fed him a bottle as well. 

Jaxson and his big brother, JJ!
Medela Breast Pump: I had a breast pump that I hardly used from my previous pregnancy but I also got the basic one through my health insurance. I had all intentions of breast feeding and using the pump for work (I worked full-time for a couple months) when Jaxson was at daycare.. but things didn't happen that way. I started to exclusively pump when he was a couple days old. There are moms out there who pumped and pumped well onto their little's first birthday but physically and emotionally I couldn't. After 8 weeks of leave I had to go back to work and I was just mentally and physically tired from lack of sleep, work, running Jaxson to frequent doctor appointments, etc. I ended up stocking up on A LOT of breast milk--I filled an entire chest freezer--and stopped pumping when he was 4 months old. We started mixing the breast milk with the Up and Up Sensitive Formula to help add calories for Jaxson as well.



Up and Up Sensitive Formula: Since Jaxson had Reflux/GERD we started using the Target brand Sensitive Formula to fortify his bottles. Jaxson was burning way too many calories trying to eat so it was important that we fortified his milk. Once we introduced the formula and extra calories he started to rack on the pounds! Other families were using Neocate or Nutrimagen formula too for food sensitivities and/or severe Reflux/GERD.


Rice/Oatmeal Cereal: When Jaxson was a month old we had to start thickening his bottles with rice cereal at first. We then switched to oatmeal cereal per Pediatrician recommendation. I know some families on the Coping with LM page are using thickeners like GelMix to thicken their little's bottles.




MAM Pacifiers: We've tried many pacifiers but Jaxson took to the MAM pacifier that we got for free from the Target Registry gift bag. He used this pacifier up until December 2017, he LOVED that thing! It definitely helped us late at night when he was fussy or fighting sleep.



Dr. Brown Bottles: Jaxson wasn't taking to the Medela bottles really well so we decided to try the Dr. Brown bottles when we were admitted at the Children's Hospital. BUT we had to order the special needs nipples since they didn't sell them at the store. He did take to these A LITTLE better then the Medela bottles/nipples but was still having trouble consuming 2 ounces of formula within an hour.


MAM Bottles: I don't remember who recommended we try the MAM bottles but I'M GLAD WE DID. We bought one bottle around April 2017 and he was able to consume 2-3 ounces very quickly. We were astonished! We didn't want to get our hopes up so we kept washing the same bottle multiple times a day but lo and behold! He was doing well with it so we bought 5-6 more! We still use the same bottles to this day, he refuses sippy cups.



Nose Frida/Saline Drops: Jaxson was sick and congested A LOT in the beginning and made his Laryngomalacia worse. Nose Frida and Saline Drops were our friends it helped him breathe better when he slept at night. MAKE SURE YOU BUY THE FILTERS!!!



Crane Humidifier: We used our humidifier a lot too when he was congested, it also helped him breathe better at night.



Moby Wrap/Ergobaby: THESE ARE SUCH A BIG HELP. Jaxson was and still is a fussy baby and ALWAYS has to be with momma. When I need to clean or cook and he is fussy I just throw him in one of these and he's golden. He still can't walk on his own too (developmentally delayed and abnormal gait) so it's nice to have a carrier when I'm out and about with the family. I ended up buying the Ergobaby because I can use this up until he's four-years-old OR 45 lbs which will benefit me in the long run. I bought it like new for $40 and I'm so glad that I did!




Swaddle Me: We used this a lot too in the beginning, he startled a lot in his sleep which kept him up a lot. When we swaddled him with this AND gave him the pacifier he would sleep between 5-7 hours! Man I miss when he slept that good haha. I'm lucky to get 2-3 without him waking up!


Well these are the items we used A LOT his first year and then some. To date we still use our Ergobaby carrier, MAM bottles, Nose Frida, Crane humidifier, and Boppy pillow (usually for lounging around or drinking his bottles). I hope this post helps you with your little ones!


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Thursday, June 14, 2018

Weighting Game : Jaxson's Fight

Jaxson in the hospital


Alice Glass drew this for Jaxson


The Pregnancy:

When we found out I was pregnant with Jaxson back in May of 2016, we didn't realize how much he would change our lives. I had a "normal" pregnancy and had zero symptoms, I know lucky me! Everything seemed great as I went in for my anatomy scan at the 20 week mark, but the nurse came back and asked that I come back for another scan. Evidently they couldn't "see his kidneys and umbilical cord" well and wanted to have another look. I went in the following week feeling slightly anxious but figured they were just being overly cautious--but then the nurse came back again and stated I am being sent to see a Perinatal Specialist. Our little peanut had what they called a two vessel umbilical cord and they wanted us to be followed by a specialist from there on out.



As you can see he had us stressing about him even before he came into this world! We had plenty of growth scans because he was measuring 3 to 4 weeks behind, had his umbilical cord checked frequently by ultrasound, did genetic testing twice, and had weekly stress tests close to my due date. They decided that he was doing well and that I could deliver him at the Naval Hospital but they didn't want me going past 39 weeks. The specialists felt that he would THRIVE better outside of the womb and so my midwife induced me on the morning of February 22, 2017 at 0730.

The Labor & Delivery:

Labor was a breeze, my stomach was contracting but I was not feeling the contractions. Around 1230 that afternoon my midwife came in and stated she could break my water to help things move along a little faster. I eagerly agreed and that's when things started moving FAST. I started to feel the contractions and boy did they hurt! I wanted the epidural but apparently I waited too long (OOPS), and had no choice but to deliver him without pain medication. A few pushes later our son Jaxson was born at 6 lbs and 10 oz--much bigger then what the specialist thought he would be! They thought he was averaging about 5 lbs!

February 22, 2017 at 1510


When Jaxson came out they quickly brought him back to the NICU because he supposedly swallowed fluid from being pushed out so fast. After they cleaned him up and "sucked out" the fluid he was brought back to me and my husband for some bonding time. We stayed at the hospital for a couple days and was finally discharged on February 24, 2017. Jaxson had some issues latching and sucking but the Pediatrician on call and I felt confident he would be fine when we got home. Thankfully the Pediatrician wanted us to come back that Sunday for a well baby visit to ensure that everything was going smoothly.. and to this day I'm THANKFUL for him doing that.

Failure to Thrive:

My husband, JJ, and I brought Jaxson to the Naval Hospital for a well baby visit that Sunday, February 26, 2017. I thought that the last couple days were going okay even though he cried a lot and we didn't get much sleep.. figured he's a newborn and they cry and eat a lot. But boy was I wrong, our little Jaxson had lost a whole pound from the day he was discharged--ONE POUND in two days. Jaxson couldn't latch OR suck well at all. Not only did he lose a lot of weight he was severely jaundice, his bilirubin levels were at 19. They admitted us and had him under photo therapy and we came up with a game plan to get him to eat. That's when I started to exclusively pump and feed Jaxson with Medela bottles and doing so we knew how much he was consuming in one sitting.

We knew something was off from the get go, it was taking him such a long time to eat an ounce out of a bottle. Our little Jaxson was burning more calories than he could consume and because of that our Pediatrician had us come in weekly for weight checks to ensure that he was gaining... When Jaxson was a month old he weighed 6 lbs and 7 oz, which was 3 oz shy of his birth weight. Most babies at this age have already doubled their weight, not our little peanut. We went in for a routine well visit and the Pediatrician on call found a heart murmur and sent us to see a Pediatric Cardiologist out in town to have an Echo cardiogram done. The doctor did find the murmur and it was minor, he was more worried about the fact that Jaxson wasn't past his birth weight. He recommended to our Pediatrician that Jaxson needed to be admitted at the Children's Hospital for evaluation.

On March 22, 2017 we were admitted to the Children's Hospital and they did many tests: Upper GI, Swallow Study, and did routine lab work. They eventually inserted a feeding tube through his nose (NG Tube) to help him gain until we could find out what was wrong with him. The on call gastro doctor actually discussed a feeding tube through his stomach (G Tube) but we didn't want to do anything that permanent until we tried everything we possibly could. Thankfully the swallow study showed that he was aspirating and that he couldn't suck and swallow well. Our new game plan at this point was to find a bottle that worked well for him and to thicken his feeds with rice cereal to prevent aspiration. They wanted Jaxson to consume 2 ounces within an hour and to gain weight before we could be discharged. After a week of persistence between my husband and I, Jaxson gained weight and was eating about 2 ounces every feed.

Jaxson at the Children's Hospital


They sent us out to Outpatient Rehab for Feeding Therapy to work on his suck and swallow skills and to strengthen his tongue coordination. At this point we were using Dr. Brown bottles with a special needs top to help with reflux and it slowed down the flow to prevent choking and aspiration. Even with therapy and the new bottle Jaxson was taking an HOUR to eat 1 to 1.5 ounces of milk. By this point his Pediatrician noticed that his "newborn congestion" wasn't going away and he had what they called "stridor." His Pediatrician is very knowledgeable and felt that he had what they called Laryngomalacia and referred us to a Pediatric ENT out in town. We got the referral quickly but there was a three month waiting list to see the ONLY ENT doctor in town. As you could imagine I was upset and stressed and called FREQUENTLY but they couldn't get us in until August 2017.

"Laryngomalacia is a congenital softening of the tissues of the larynx (voice box) above the vocal cords. This is the most common cause of noisy breathing in infancy. The laryngeal structure is malformed and floppy, causing the tissues to fall over the airway opening and partially block it (Children's Hospital of Philadelphia, 2018)."

As we waited to see the ENT, our Pediatrician put in for a Pediatric Pulmonologist and Cranial Facial Surgeon because of his recessed chin and airway problems. Both recommended a sleep study be done to see if his recessed chin was causing any problems and if it did they wanted to do reconstructive surgery. Once again I was hesitant to do something drastic and wanted to wait to see what the results showed and I'm glad I did. He was having both Central and Obstructive Sleep Apnea but he was having more Central than Obstructive. Doing a reconstructive surgery and tracheostomy wouldn't have helped his Central Sleep Apnea. We were given a sleep apnea monitor to put us at ease until the next sleep study and ENT appointment.

First Sleep Study


In April 2017, we decided to try another bottle, MAM, since he was doing so well with the MAM pacifier. Boy were we glad we did! I don't know if it was the shape of the nipple (it's flatter) but he was able to drink about 3 ounces of formula much more quickly! We were a little bit hesitant on buying more and getting excited but he started drinking more and more out of the MAM bottle! That's when the weight REALLY started piling on.

Our Pediatrician put in for a Neurosurgeon because of Jaxson's uneven skull shape and wanted to ensure that his sutures were not prematurely fusing together OR craniostenosis. Yes, another specialist for Jaxson! However after an ultrasound of his skull everything came back normal and his sutures were not fusing together.

Coping with LM:

While I waited to get the official diagnosis from the Pediatric ENT, I was able to find a great support group called Parent Support at Coping With LM. There I was able to connect with our families who had little ones with this condition and I finally had someone to relate to. I now felt like I wasn't alone anymore and I wasn't crazy. In May 2017, my husband and I decided that I would stop working full time to focus on Jaxson since he was still having trouble gaining weight. Even though it was a very hard in the beginning it was one of the best decisions we ever made.. he started to THRIVE.. He wasn't under the fifth percentile for weight anymore! Fast forward to August 2017 we finally got the OFFICIAL diagnosis of Laryngomalacia from his Pediatric ENT.. FINALLY had a name to what was making our little man fight so hard. WE WEREN'T CRAZY.

Jaxson at 5 months old


Genetics:

In the midst of all of this, our Pediatrician put in for us to see a Genetics doctor to "dot our I's and cross our T's." We first went to Children's Hospital of Alabama in July 2017 where we went into detail about Jaxson's history and our history. They recommended Jaxson to see an Ophthalmologist, have the microarray genetic testing done, and come back in December for a follow up. The Ophthalmologist found a subtle abnormality in his right eye but wasn't concerned about it and the microarray came back 'normal'. We still wanted to push for answers because Jaxson started showing signs of global developmental delays, he was 8 months old and couldn't even roll from front to back or back to front. That's when we started seeing a Physical Therapist at the Outpatient Rehab Center.

We went back to the Genetics team in December 2017 and they recommended the WGS (whole genome sequencing), which breaks down every letter of the alphabet so to speak. They took both my husband and I's blood too to see if he did come back with a missing or extra gene if it came from us or if it was De Novo (new). This genetic testing could take up to 4 to 6 months to come back! They also recommended a Sedated MRI to check for what they called Chiari Malformation because some of his symptoms reflected that genetic disorder. We had the Sedated MRI done in February 2018 and things came back normal, and I would admit that I was a little upset because I wanted answers. I was HOPING that was the answer.

Then in April 2018 as I was hanging out with my good friend Lynne, I get the phone call my husband and I have been waiting for. The WGS came back with an answer. Jaxson's DNA has a change in the DYRK1A gene which is located in the 21st Chromosome. Apparently this wasn't even on our Genetics Team's radar and it's extremely rare--the most recent literature on the topic dates back to 2012. Yes! 2012! I had a bunch of emotions flood in at once... I was relieved, happy, sad, and worried. This new diagnosis would explain everything we have been through with Jaxson thus far. As far as we know the DYRK1A syndrome exhibits these features:

  • Microcephaly (small head and brain size)
  • Low Birth Weight
  • Feeding Issues at Birth (Frequent Vomiting)
  • Speech and Language Impairment
  • Developmental Delay / Cognitive Impairment
  • Autism and/or Ritualized behavior
  • Growth Delay
  • Unsteady Gait
  • Ear Anomalies
  • Epilepsy / Seizures / Febrile Seizures
  • Chronic Constipation
  • and More 
  • (DYRK1A, 2018)

To date Jaxson has: microcephaly, low birth weight, feeding issues, speech and language impairment, developmental delays, unsteady gait, growth delay, chronic constipation, and autism spectrum disorder. I was able to find a support group for this rare genetic disorder as well and they've been awesome with answering all of my questions and giving me advice. From all across the world, the different cultures, different languages, we all come together and cheer on each of our warrior's achievements no matter how big or how small!

We enrolled him in the Early Steps Program to get all of the help he needs, Early Intervention is key! He participates in a Baby Bloomer class on Friday afternoons with other babies who aren't as mobile like him and he has an ITDS (Infant Toddler Developmental Specialist) come to house once a week. He's currently still in Feeding Therapy, Speech Therapy (trying to teach him sign), Physical Therapy, and waiting on Occupational Therapy referral. Jaxson sees his Gastroenterologist and ENT doctors every few months and we will be seeing an Aero Digestive team at UAB at the end of the month.

Jaxson at PT


He definitely surprises us everyday. He still isn't talking or making consonants consistently but he's making huge strides in his gross motor development. He went from being a potato baby at 8 months old to becoming a couch cruiser at 15 months old. He loves to crawl and chase his big brother around the house and loves his snacks! I'm not much of a writer but I'm hoping that writing this blog will help other families who are on a journey for answers or someone to relate to.. who see MANY specialists, who drive many miles to see other specialists, all of the tears shed, seeking second opinions, the constant worry, the isolation, and the never ending fight for your warriors.

Jaxson and JJ
(L) 1 month old, (R) 15 months old

Jaxson is also part of the Tiny Super Heroes Team!! Super Jaxson!!

He LOVES bubbles!

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Failure to Thrive No More: June 2018

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Failure to Thrive No More

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