The story of Nick
My dad told me children were being sent home to die & that I was one of only 15 kids in all of Arizona who had this stroke at the time. My heart goes out to the families of those infants who didn’t make it. I’m one of those survivors who lives to tell his story.
Hi, I’m Nick, the youngest of two. I was born on June 21st 1996 via FTVD at full term with many problems. Initially a grade 3 intraventricular hemorrhage with dilation was diagnosed. Then a specialist diagnosed it as a neonatal cerebral sinus venous thrombosis with parenchymal infarction. They believed it was due to maternal hypertension. It affects the white matter region of the brain. I was small for gestational age and growth restricted with dysmorphic features, microcephaly concerns, laryngomalacia, atrial and ventricular septal defect, full term cryptorchidism and thrombocytopenia. The doctors didn’t think I would live. They gave me immunoglobulin to increase platelet count instead of blood transfusion due to parental religious beliefs. The 2 holes in the heart healed without treatment. I spent 29 days in the NICU. I was on an apnea monitor with some home nursing visits. As a toddler I had general language delay both receptive and expressive, impulsivity, couldn’t coordinate movements well and was farsighted.
My childhood was rough but if there was any bright spot it would be my cousins Chris & Tyler. Chris has a speech problem resulting from a cyst. His parents didn’t pursue surgery because of the risk of damaging his brain. We get along well with each other because they understand me better than most. I had surgery for cryptorchidism at 6 years of age. I saw a neuropsychologist who diagnosed me with OCD, unspecified ADHD, inattentiveness, developmental language disorder (this improved over time), developmental coordination disorder, reduced left arm swing, dyscalculia, visual neglect bilateral, optokinetic nystagmus, esotropia, grade 1 dysrhythmia, Aspergers, slow tongue movements, and unspecified encephalopathy. I was on different medications for these. Stature was always above 95th percentile. I would bite my arm impulsively. Everytime my eye would turn in my right arm would get spasms. I was bullied repeatedly by the other kids for this. The arm spasms disappeared at 13 but the jaw spasms persisted. I had sensory problems with certain clothing as well as walking challenges with a tendency to run into things. Mom was concerned that I was underweight. I would also occasionally break out in hives that took days to go down. We moved to South Carolina in early 2012 to get away from all the bullying. Thankfully, most people in South Carolina were nice to me.
While in South Carolina he muscle jerks affecting my jaw caused jaw drops. It got better around early adulthood however I developed TMJ, tinnitus, floaters and an upward eye tilt due to this. In my sophomore year of high school I had a mean special education teacher that would leave the room not helping me with math homework. We switched special education teachers which led to me passing math later that year. I graduated with academic distinction in 2015. I tried to get my license but mom got into an accident that made me never want to drive again. It was out of her control. In 2017 we moved to Colorado to live with my brother while my parents moved back to Arizona for retirement. The walking challenges turned into a wide based gait as of a year ago. When I stood up from sitting I got lightheaded forcing me to put my head down or collapse to the floor but catching myself. I saw a GP for this. It was diagnosed as orthostatic hypotension. During this time I developed throat clicking that caused a sensation of food being stuck coupled with coughing due to swallowing issues. I saw a chiropractor who helped initially with the pinched nerve but as time went on I got digestive issues with a body tilt. After 2 months I stopped going due to poor results. The digestive issues lasted a month and a half before calming down. After I stopped seeing the chiropractor I developed grip weakness. Unfortunately, I still have a throat click when falling asleep. The job I worked at previously had me carry trays of plates. I always dropped them getting looks from the residential nurses. I exited that job in November 2021.
A physiologist in 2018 for SSI eligibility called it a birth defect. Due to his concerns I set up an appointment for genetics testing in August 2021. In the middle of that wait my dad’s mom Ellie who fought dementia for 40 years passed away on February 8th 2020 at 95 years old. When we saw the genetics counselor they noted high blood pressure and a heart murmur that was diagnosed as aortic arch hypoplasia. The geneticist noted signs of micrognathia with a mild high arched palate with some teeth on the lower jaw being mildly pointed. She recommended chromosomal microarray and Whole exome sequencing as test options. After 2 months the results came back, through WES me and mom are carriers for the CEP290 gene. CMA detected that me and dad have chromosome 4p31.3-32.1 duplication syndrome. This chromosome duplication has 7 genes, 4 cause disease. Congenital visceral amyloidosis, leber’s congenital amaurosis & the congenital fibrinogenemia’s. The mutation is of unknown significance. It’s so rare that you won’t find any information about the duplication on the web!
We saw my GP after genetic testing. He referred me to a neurologist due to atrophy on my left arm. This neurologist recommended a physiotherapist. But after seeing two unhelpful therapists, and 2 additional visits to my GP I decided to see a new one. During all of this I discovered the hives in childhood were an allergic reaction called skeeter syndrome. This new doctor was nice unlike the prior one. She did a neurological exam on me to test coordination. She wants a release of all medical records. So far nothing has happened despite my intervention. She got me a cane and set me up with a new neurologist due to the previous neuro canceling a prior appointment for a 5 month vacation The next evening I got an email about the visit. I was mortified! Beyond the eye issues with posture lean there was tangential speech, confusion and a positive Romberg’s test. The new neurologist denied the referral due to lack of information but that was resolved. I discovered my old GP didn’t do a B vitamin test because he didn’t think I needed it. I took that test at my new GP’s office with normal results. So she set me up for imaging. The imaging went smoothly with results coming back 3 days later. X-ray showed thoracic scoliosis, lumbar retrolisthesis, mucous retention cyst, multiple small choroid plexus cyst, 4mm hemosiderin deposit & a porencephalic cyst in the left region of the brain with mild T2 prolongation. I broke down in tears but felt overwhelming peace of mind. It only took 26 years-
Currently, I’m tall at 6 foot 3 inches. I’ve been working 4 hours a day 4 days a week at a gas station as of December 2021, I eat healthy, swim, use a cane for stability, do physical therapy exercises, spend time with my cousins when possible, listen to music, watch documentaries, cook, travel, play with our dog kara, & sometimes games. I want to build a model train diorama but it’s expensive. Due to visual, grip & coordination issues I use different services to get around. Recently I acquired my class C UST operator license at my job. My GP is a hero because she helped me identify what my problem is. Over the next 6 months I plan to see neurology, physical therapy, neurosurgery to see if the cyst needs to be drained, a spine specialist, and an ophthalmologist. I want this story out there to spread awareness because there are no stories about porencephaly and due to this I want to inspire others to share their stories in helping me understand the challenges they face. My advice is to advocate, do research, and be fun. This is a dream come true. Finally, I want to thank my great uncle Frank who donates 15,000$ to the Mayo Clinic annually.
@Rarediseaseday @Showyourstripes @Borntoberare