This post may contain affiliate links, which means I may receive a small commission, at no cost to you, if you make a purchase through my links. For more information please read my disclosure policy here.
|Alice Glass drew this for Jaxson|
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|
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!|