What it is like to have a child with a rare chromosome disorder
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What is it like?
Jaxson was born on February 22, 2017 and my pregnancy was anything but normal, but who would’ve thought that after you were born that our lives would forever change.
Frequent hospital visits because you couldn’t eat, you were lethargic, severely jaundice, and lost over a pound. Took you three months to go past your birth weight of 6 lbs 10 oz.
Many referrals to specialists: ENT, Pulmonary, Gastroenterology, Cardiologist, Neurosurgeon, Cranial Facial Surgeon, Feeding Therapist, Physical Therapist, Occupational Therapist, Aero
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Digestive Team, and Genetics.
You had microcephaly, GERD/Reflux, speech delays, feeding difficulties, abnormal head shape, developmental delays, recessed chin, heart murmur, two vessel cord in utero, small size, obstructive and central sleep apnea, airway disorder, sensory processing disorder, and autism spectrum disorder.
We were hermits the first year because you were diagnosed with Laryngomalacia–an airway disorder. We were afraid of the heat and humidity and germs. You were frequently sick and our essentials were a Nose Frida, saline drops,
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and humidifier.
Microarray and WES genetic testing were done to see if everything you were exhibiting could be linked to a genetic disorder. Microarray came back normal but the WES found a deletion in the DYRK1A gene within the 21st Chromosome.
Yes we have answers but our future is uncertain. This rare chromosome disorder is really new and to date there are only 200 families with children with DYRK1A deletion syndrome.
Despite everything, I would not change anything for the world. We love you so much Jaxson, and we could not imagine a future
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without you–uncertain or not.
Follow our story on: https://jaxsondyrk1a.blogspot.com/
Jaxson’s momma loves to write about his story in hopes to reach other mom’s who are going through the same journey.
Please share your story with us.
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Jennifer Carfora - 27 Jun 18
What is it like?
Jaxson was born on February 22, 2017 and my pregnancy was anything but normal, but who would’ve thought that after you were born that our lives would forever change.
Frequent hospital visits because you couldn’t eat, you were lethargic, severely jaundice, and lost over a pound. Took you three months to go past your birth weight of 6 lbs 10 oz.
Many referrals to specialists: ENT, Pulmonary, Gastroenterology, Cardiologist, Neurosurgeon, Cranial Facial Surgeon, Feeding Therapist, Physical Therapist, Occupational Therapist, Aero Digestive Team, and Genetics.
You had microcephaly, GERD/Reflux, speech delays, feeding difficulties, abnormal head shape, developmental delays, recessed chin, heart murmur, two vessel cord in utero, small size, obstructive and central sleep apnea, airway disorder, sensory processing disorder, and autism spectrum disorder.
We were hermits the first year because you were diagnosed with Laryngomalacia–an airway disorder. We were afraid of the heat and humidity and germs. You were frequently sick and our essentials were a Nose Frida, saline drops, and humidifier.
Microarray and WES genetic testing were done to see if everything you were exhibiting could be linked to a genetic disorder. Microarray came back normal but the WES found a deletion in the DYRK1A gene within the 21st Chromosome.
Yes we have answers but our future is uncertain. This rare chromosome disorder is really new and to date there are only 200 families with children with DYRK1A deletion syndrome.
Despite everything, I would not change anything for the world. We love you so much Jaxson, and we could not imagine a future without you–uncertain or not.
Follow our story on: https://jaxsondyrk1a.blogspot.com/
Jaxson’s momma loves to write about his story in hopes to reach other mom’s who are going through the same journey.
Please share your story with us.
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Thirty year old mom of two boys, JJ (4.5 years old) and Jaxson (16 months). Married to an amazing man. Military spouse. I love anything fitness related. If you would like to read more about Jaxson and his condition, please stop by our blog!
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