Jayson was the first born child into his family after an uncomplicated pregnancy and delivery.  His development was delayed in utero, but his doctor claimed he must have been conceived later than we thought and was not concerned.  Jayson weighed 7 lbs 3 oz at birth and went home after 48 hours with his family. 

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Jayson lost weight after birth and continued to lose weight and be slow to grow over the following weeks. He was diagnosed failure to thrive, although he seemed to eat well and did not show any signs of reflux. He caught RSV at just 6 weeks of age which landed him in the hospital with low oxygen levels. He did not improve after many days and was life-flighted to the local children’s hospital in respiratory distress. He had pneuomia, atelectasis (collapsed lung) and needed a lot of respiratory support and spent time in the PICU. Weeks later he was discharged on oxygen and was only home a few days before he stopped breathing in his mother’s arms and required CPR for the first time. He was transported to the hospital again where they finally performed additional tests and found he had severe laryngomalasia, severe central and obstructive apnea, aspiration on thick and thin liquids with every swallow, severe silent reflux, lung damage and an undiagnosed genetic syndrome (genetic testing included Microarray). They placed an NJ feeding tube and ordered to have him on high-flow humidified O2, a pulse oximeter, and a feeding tube with continuous feeds full time.  Over the next few months he was hospitalized many times for Apparent Life Threatening Events (ALTE’s) related to breathing and heart rate, serious respiratory infections, and surgeries to place a G-tube, address the laryngomalasia, place ear tubes, and perform more tests and scans. Jayson rolled at 7 months and was diagnosed with suspected seizures after they began at 6 months of age, but never registered on an EEG. Jayson had severe sleep issues with non-stop movements, spasms and jerks and many respiratory events.

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At 11 months of age, Jayson stopped breathing for the third time requiring intervention once again and was rushed to the hospital where they repeated a brain MRI to discover his chiari malformation in his brain stem was worsening very quickly. There was no longer any CSF flow due to the severe herniation of his cerebellar tonsils. He received an urgent chiari decompression surgery and C1 laminectomy to create room for his herniated brain. He required a second surgery to correct the wound due to an infection caused by spitting sutures (likely caused by suspected EDS). Following surgery, Jayson improved drastically in his health and development. He weaned off oxygen while awake, he no longer aspirated on thickened liquids, he learned to sit independently around 14-16 months, and began standing with support at 22-24 months. Jayson did not have an inpatient stay in between 14-24 months of age and had surgery to remove his adenoids, change his GJ to a G-tube, and had other tests.  He was still undiagnosed by genetics.

Between 24-36 months of age, Jayson’s development slowed and his conditions slightly worsened. Seizures increased to hundreds a day. He had frequent head pain and often complained and whined. His aspiration got worse and his neuro status and reflexes worsened. His geneticist suggested a CT scan to look for craniosynostosis since his head size was in the negative percentile. With the resistance of the plastic surgeon, the ordering doctor, a 3-D CT scan was ordered where it was discovered nearly all of Jayson’s sutures were fused early and there was evidence of severe cranial pressure with the wearing away of the skull from pressure. He had urgent cranial surgery days later. His doctors and family elected to do a cranial expansion via distractor rods since it provided the most space and reduced the risk of needing another surgery in the future. Jayson had two distractor rods out of his skull for 7 weeks and his parents had to adjust them twice a day to expand his skull. The rods were then removed, but the hardware remained for another 4 months until the new bone hardened. Jayson then had a second cranial surgery to remove the hardware and smooth the skull. Again, Jayson’s health and development greatly improved after surgery! He began walking just weeks after surgery at 35 months of age. His seizures improved and his pain went away. Jayson had his tonsils removed and was only hospitalized with surgeries and a stomach virus.

Jayson’s seizures worsened again and medicinal options were limited, so he started the ketogenic diet. It worked well for seizure control, but he was in chronic ketoacidosis which required some hospitalizations, particularly with illness. After 18 months on the diet, he was taken off of the diet due to severe ketoacidosis and his seizures were still fairly well controlled. Whole Exome Testing (WES) with genetics was denied by insurance and Jayson’s family was told they will likely never have answers. His family sought out self-pay options for WES and received results 4 months after delivering blood tests. Jayson had a variant of unknown significance on genes MN1 and LAS1L. His geneticist did not think these results meant anything, but Jayson’s mother found an article on MN1 and craniofacial abnormalities. The geneticist did not think it was medically significant. His mother began the search for other MN1 families via her blog and social media.

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Jayson’s mother learned of a rare neurological condition that fit Jayson’s symptoms called Paroxysmal Tonic Upgaze and a treatment was available. Jayson began the medication and his seizures and neuro events completely disappeared. Jayson’s apnea greatly improved and his breathing was stable on bipap and a little O2 at night. He had another couple of ALTE’s which were attributed to his dysautonomia and were not serious events. Jayson’s family was notified by his geneticist that the article on MN1 was clinically significant, and that other MN1 families with craniofacial abnormalities were found! Jayson was said to be 1 of 6 in the world with this mutation and craniofacial abnormalities such as craniosynostosis and cleft palate. Jayson became part of a research study intended to declare MN1 a craniofacial gene.

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Jayson has stabilized over the years and has been doing well medically and developmentally. At age 5 Jayson was assessed for autism and was diagnosed so that he might receive ABA Therapy.  At age 6 Jayson’s headaches progressed to severe pain over much of the day, every day. After another MRI, high intracranial pressure was suspected and Rhomboencephalosynapsis (RES) was diagnosed for the first time. The RES explained many of Jayson’s issues including his delayed cognition, eye issues, unsteady gait, and non-verbal status. After a lumbar puncture, it was discovered that Jayson’s pressures were in the 40’s or 50’s. The reading went beyond what the tool could measure. He started a diuretic to slow the production of CSF which helped temporarily. Another LP was done to reduce the pressure, still in the 30’s. Inpatient pressure monitoring was scheduled to determine whether Jayson needed a shunt, but the day before surgery his eye swelled up significantly and liquid drained out of his nose. Doctors suspected an eye infection, but the swelling improved before he began the antibiotic. Following this strange event, Jayson’s headaches nearly disappeared. It has never been explained.

At age 6 Jayson and his family unexpectedly met the geneticist who wrote one of the first papers on MN1, suggesting a link between the gene and craniofacial abnormalities. Dr. Sanchez had not ever met another MN1 patient since his paper was published. He helped connect Jayson’s family with other MN1 families through his professional connections. It was later discovered that Dr. Sanchez also authored a paper on Rhomboencephalosynapsis, which helped connect the family with another team of doctors in the U.S. researching RES. Jayson is now a part of several research studies and the family is excited to get new information and connect with other MN1 and RES families.

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Jayson is doing incredibly well at 7 years of age. He is now nearly running with the support of SMO braces he recently received. He is using an ipad and the app Proloquo2Go to communicate and is making tremendous progress in ABA therapy. He is reading simple words and loves the alphabet and numbers. He is potty training and shows evidence consistently that he is not as delayed cognitively as he appears. He loves school and is happy nearly all of the time. Jayson loves spinning, twirling and bouncing objects and that is the stim he craves at all times. He also chews all day on a plastic spoon and slurps his high production of oral secretions. He loves cars, boats, trains, planes and all things that go! He loves mascots, princesses, and going places. He makes many happy sounds but is unable to produce any words or replicate distinct sounds. He enjoys movies and games on his iPad, particularly documentaries and learning apps. He is not super social, but loves touch and snuggles. He attends school at a typical school in a self-contained classroom and rides the bus on his own. He receives many services and interventions and makes very slow and inconsistent progress on his goals. He is now a big brother and is beginning to develop more socially. Jayson truly is one of a kind and has a way of touching everyone he meets. His mission on this earth is to teach others about love and what is really important in this life. Feel free to share his story with others.