Little J's Journey: May 2016

Wednesday, May 11, 2016

Searching for Mutations in MN1 Gene

Jayson is really struggling right now. My heart is breaking as I watch him suffer and try and survive this phase of extreme discomfort. I need answers; and while I think they are on their way, I have to do all I can to get them as quickly as possible. I NEED to find more families who have a mutation in the MN1 gene. I need to know what their children look like and what symptoms they have. I need to know if they have any answers or resources we don't. I need to know that we are doing everything possible for Jayson. Please help us find more MN1 families. Share this near and far. Answers are coming. I can feel it. Thank you. xoxo #mn1mutation #mn1

Meet Jayson

Jayson has an ultra-rare craniofacial syndrome on gene MN1. Jayson was born full-term without the knowledge of any medical conditions. At a month and a half Jayson caught RSV and had difficulty recovering. While in the hospital for a long period of time, he was diagnosed with several conditions. Over the next couple of years, he was diagnosed with many more. He now has over 20 therapists and specialists, as well as a long list of diagnoses: Mutation on MN1 causing craniofacial syndrome, Multiple Suture Syndromic Craniosynostosis, Chiari I Malformation, Seizure Disorder, C1 ring hypoplasia, Static Encephalopathy, myoclonus, severe laryngomalasia, central and obstructive apnea, GERD, G tube fed, O2 and bipap dependent during sleep, hypotonia, nystagmus, Duane Syndrome in right eye, Cortical Visual Impairment, chronic constipation, dysphagia, bradycardia, craniofacial abnormalities, autonomic nervous system dysfunction, chronic ear infections, high palate, Sensory Processing Disorder, Autism, idiopathic intracranial hypertension, bilateral hydronephrosis, and rhomboencephalosynapsis. Jayson also has an amazing, positive disposition and loves to smile, laugh, play, cuddle, spin and holler. He is severely developmentally delayed and completely non-verbal but is still progressing every day.

Meet J's Parents

We are Mike and Tristin West. Jayson is our first and only child, and we have learned a lot about parenthood through our crazy experiences. Mike works as a City Planner for Lehi City, and Tristin works as a Dual Language Immersion Specialist for Spanish teachers in Granite School District. We are LDS Christians and our faith gets us through our trials. This blog is our story of our rare journey with our undiagnosed son with complex medical needs. **We are looking for more MN1 families! Please contact us at info@MN1foundation.org**

Little J's Journey

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Wednesday, May 11, 2016

Searching for Mutations in MN1 Gene

Meet Jayson

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Meet J's Parents

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