Life with a rare chromosome child

rare chromosome child

*This is a guest post 

I’ve been thinking long and hard on what to write. Our journey with Jaxson as a rare chromosome child has challenging from the day I found out I was pregnant back in 2016. I know what you’re thinking, “Hey least you were able to get pregnant” or “At least you can have children.” I know. I’m not complaining, I wouldn’t change anything. Nothing. I am blessed to be his mother and I’m thankful everyday for him. He has taught us how to be patient, how to love unconditionally, and how to be strong. For you to understand let me take you back to where it all began…

I found out I was pregnant with Jaxson back in May of 2016 and we were super excited to be adding another to our little family. I went in for our anatomy scan at the 20 week mark expecting it to be routine and easy. The ultrasound tech took a bunch of pictures for the doctor to look at and came back in to the room. She mentioned that the doctor wanted us to come back the following week because he couldn’t see his umbilical and kidneys well. I thought to myself, “Yeah, okay no big deal.” Went in the following week a little more anxious and found out that I needed to be sent to a Perinatal Specialist off base.

That’s when I found that this pregnancy was anything but normal

Jaxson had a two vessel umbilical cord. I went to see the Perinatal Specialist FREQUENTLY. They did many growth scans because Jaxson was measuring 3 to 4 weeks behind other babies at this gestation. They checked my umbilical cord to ensure that the blood was flowing to Jaxson, genetic testing (came back normal), and they did many non-stress tests–by the last few weeks of my pregnancy I was having two non-stress tests a week. The specialists all agreed to have me deliver at our Naval Hospital at 39 weeks because they believed he would gain and thrive better outside of the womb.

February 22, 2017 our little peanut was born. It was a fast pregnancy, so fast I didn’t have time for epidural–ouch! They suspected he had inhaled or swallowed fluid so they brought him back to the NICU. Brought him back to me clean and I thought all was well in the world. He had some issues latching but so did our oldest and we were sent on our way home. Fast forward two days later, we were admitted because he lost a pound and was severely jaundice. They came up with a game plan to get him to eat by having mum pump furiously and feed him with a bottle. He took an HOUR to consume an ounce and was burning more he could consume.

From that day forward I knew this was going to be a challenging journey

Our Pediatrician sent us to see an ENT for Laryngomalacia, Feeding Therapist to work on his suck and swallow coordination, Physical Therapist, Cranial Facial Surgeon for his recessed jaw, Neurosurgeon for his abnormal skull shape, Pulmonary for apnea, Gastroenterology for Reflux/GERD, and lastly a Geneticist. We first saw the Geneticist back in July 2017 and had the Micro Array testing done–came back normal. We went back in December 2017 and they put in for a more detailed test referred to as WES, or whole exome sequencing test. The way he described it to us was that it broke down every single ‘alphabet’ in his body to look for any deletions or duplications of genes. They took mine and my husband’s blood as well to test us if there are any abnormalities and the results generally take 4 to 6 months to come back. They tested our blood too to see if we carried the genetic marker but in Jaxson’s case it was De Novo, or new.

April 2018, I was hanging out with a friend when I got the call. I didn’t think it would show any abnormalities like the Micro Array but we got an answer–DYRK1A.

rare chromosome child

Our Geneticist said that this is such a Rare Chromosome Disorder

It  wasn’t even on their radar when they sent for this testing. Apparently the earliest publication of this was back in 2012–yes 2012! She told me all the features associated with this syndrome and that it’s pretty much a waiting game of sorts. The diagnosis hit me like a bag of bricks and I had so many mixed emotions. I was happy and I was heartbroken. Why the mixed emotions? I was happy and relieved that we finally have an answer with what was going on with Jaxson. However I was heartbroken for our little peanut because of the challenges he will face and that this isn’t just something he will outgrow.

Jaxson was exhibiting most symptoms associated with the DYRK1A deletion syndrome: failure to thrive, feeding difficulties, small head (microcephaly), hypertonia, developmental delays, speech delays, abnormal gait, Autism Spectrum Disorder, Sensory Processing Disorder, and recessed chin. Some children who have this syndrome do have seizures, febrile seizures, or cerebral palsy and have to use medication to keep it at bay–thankfully we have not seen that in Jaxson.

We have been fortunate to find that he has this syndrome at such a young age

I’ve read that on average it could take five years to receive a diagnosis and I’ve talked to other families who have been affected by this syndrome. It took them over 15 – 20 years to have answers! Genetic testing is so new and it’s amazing technology. I’m thankful we submitted his WES because it gave us a new family–the DYRK1A family. There is a small support page of about 200 families with children who have the same Rare Chromosome Disorder. It is nice to know that I am not crazy and I am not alone. It’s amazing seeing all of our children and how similar they all look.

Our future is uncertain at this point with Jaxson, but I would not change anything, NOT A THING. I would chose this life over and over. He’s made me strong and brave. He’s such an amazing little boy, so inquisitive, so happy despite everything. Our oldest adores him and wants to protect him–he completes our little family.

rare chromosome child

He continues to amaze us everyday with each and every inch stone

He just recently learned how to use a straw at 17 months old. He has an abnormal gait but he’s so close to walking! He’s taken about two to three steps before falling down. As far as speech, we’ve been trying to teach him sign language but he hasn’t picked up on it yet.

I will continue to advocate for my son and help raise awareness for him and for our DYRK1A family.

Follow our story on: jaxsondyrk1a.blogspot.com

 

Author bio: Jaxson’s mum loves to write about his adventures with DYRK1A and his airway disorder Laryngomalacia.

Additional Information:

DYRK1A: www.dyrk1a.org

Unique Charity: www.rarechromo.org

Facebook: www.facebook.com/JaxsonsMomJennie

Facebook: www.facebook.com/dyrk1a.syn

 

 

 

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