Typical pregnancy

• Suspected delayed growth

• Born at 40 weeks

Typical vaginal birth

• Weighed 7 lbs 3 oz at birth

Infancy health and development

• Failure to thrive

• Hospitalized with RSV at 6 weeks

• Pneumonia and atelectasis, first life flight

• Stopped breathing for first time, first CPR

• Diagnosed with aspiration on thick and thins

• Diagnosed with severe obstructive and central apnea

• Diagnosed with clinical seizures that do not register on EEG

• Diagnosed with laryngomalasia and had first surgery to address it

• Diagnosed with unknown genetic syndrome and had microarray testing without results

• Surgery to place G-tube

• Stopped breathing for third time

• Decompression surgery to repair chiari malformation

• Wound repair surgery after chiari malformation

• Rolled at 7 months

• Many hospitalizations for surgeries, ALTE’s, tests and illnesses

Toddler health and development

• Improved health and development immediately after chiari decompression surgery

• Surgery to remove adenoids

• Hospitalizations for surgeries and tests

• Sat up around 14-16 months

• Stood up with support around 22-24 months

• Seizures worsened and headaches progressed

• CT scan revealed multiple suture syndromic craniosynostosis

• Posterior vault expansion surgery with distraction rods, 2 part surgery

• Remarkable improvement of health and development after surgeries

• Walked at 35 months

• Started ketogenic diet and had decrease in seizures

• Often in ketoacidosis due to the diet

• Hospitalized for surgeries and illnesses

• Experienced a couple of ALTE’s due to dysautonomia

• After self-pay Whole Exome Sequencing testing discovered mutations on MN1 and LAS1L

• Diagnosed with rare neurological condition with treatment- Paroxysmal Tonic Upgaze

• Seizures and neurological events disappeared

Childhood Health and Development

• Stable health and development

• No aspiration on thick or thin liquids

• Half tube feedings, half oral feedings

• Limited apnea on bipap

• Other MN1 families found by researchers, declared craniofacial gene

• Diagnosed with idiopathic intracranial hypertention with LP

• Diagnosed with rhomboencephalosynapsis and enrolled in a study

• Met geneticist and expert on MN1, connected with other MN1 families

• Diagnosed with Autism to receive ABA therapy

• Attends a typical school in a self-contained classroom

• Uses ipad and Proloquo2Go app to communicate

• Wears SMO ankle braces and currently runs a little

• Completely non-verbal

Interests, hobbies, quirks, mannerisms, unique characteristics

• Very happy attitude and disposition, constantly makes happy sounds, slurping noises

• Loves to spin, twirl and bounce objects as a stim, chews on plastic spoon constantly

• Became a big brother at age 5 and is progressing in social development

Noteworthy therapies, medicines or specialists that have really helped

• SMO ankle braces help Jayson walk and run

• ABA therapy helps Jayson learn and progress in all skill areas

• Sinemet and the ketogenic diet helped significantly with seizures

• Diamox helps with Jayson’s intracranial pressure

• Gabapentin helps with Jayson’s pain, jerks and spasms particularly at night

• Clonodine helps Jayson sleep

• T-tubes have helped with Jayson’s chronic ear infections

• Proloquo2Go and an iPad help Jayson communicate

• Bipap helps Jayson sleep and breathe

• Feeding tube keeps Jayson hydrated, fed and growing

• Zyrtec helps with Jayson’s allergies