At 34 weeks it was determined by sonogram that Sam had Dandy Walker and various heart defects. An amniocentesis was performed to check for other abnormalities but the karyotype came back normal. Sam was born full term measuring 6.1# 18 1/2″ long. He had good apgars and passed the neonatologist’s initial exam. After being unable to feed orally due to his poor suck/swallow/breathe sequence the doctors began to reevaluate him.
He was seen by numerous doctors and given several tests. An MRI revealed underdeveloped brain structures including the brainstem, corpus callosum, and cerebellum as well as borderline hydrocephalus. An echocardiogram showed four heart defects–ASD, VSD, PDA, and a narrowed aorta. He had flexion contractures in almost all of his main joints. He had an anal fistula that was surgically repaired when he was 3 days old. He couldn’t open his eyes more than 4-6 mm but it wasn’t until later that we found out he had blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). He stayed in the hospital while all of the testing was completed and until we could get him to start gaining weight. He went home when he was 3 weeks old.
Sam had a second karyotype done when he was born and again it came back normal. Upon discharge from the hospital the geneticist felt 50% sure that Sam had Marden Walker syndrome and 50% sure he could have anything else. When Sam was 4 months old he had a third karyotype done at a facility in another city that had better equipment. The geneticist immediately recognized the BPES and directed the karyotype to focus on chromosome 3. When Sam was 6 months old we got his official diagnosis of 46 XY, del 3q(23-25.31).
Feeding was always an issue for Sam. He had an NG placed when he was only a couple of days old and we used one continuously for almost two years to supplement his meals. We struggled with bottle feedings for months. Sometimes we could count only ccs after 30 or 45 minutes of trying to bottle feed him. He eventually got the hang of it and we moved on to baby foods. The most he ever tolerated was 8 oz. of stage 2 baby foods at a meal and mealtimes lasted anywhere from 20 minutes to an hour. He could never tolerate the baby foods with textures. There was a time when he would eat crunchy and/or salty foods like Cheetos, pretzels, Cheerios, and crackers. We visited feeding clinics across the U.S. to get help with his feeding issues. Despite our efforts of fortifying his food with Duocal and his milk with heavy whipping cream to get extra calories in him he was diagnosed as mildly malnourished and a GT was placed when he was four years old. After time his oral intake decreased and he now receives all of his nutrition via GT in the form of a home blended diet. Sam also has a gastric ulcer that is helped by Prevacid.
Sam has always had sensory integration issues. His main way of dealing with any uncomfortable sensation was to vomit. He was sensitive to many sounds including squeaky toys, paper tearing, plastic grocery sacks, potato chip sacks, and wind breaker jackets/warm up suits. He was visually sensitive to plants and leaves. He was tactilly defensive to so many textures and sensations it seemed he was vomiting all the time. He was extremely sensitive around his mouth and on his face and remains that way today. Brushing his teeth is still a struggle. When he was younger he found a cold wind in his face to be unbearable. Sam has always sought out vestibular input but especially enjoys spinning. He also finds deep pressure to be calming. At times he has really enjoyed vibrations but equally so he has found it uncomfortable as well. Luckily he is less sensitive now that he is older. He started taking Prevacid when he was 6 years old and that all but stopped his frequent vomiting despite being introduced to the same textures, sights, and sounds that were adversive in the past.
Sam reached many milestones, some on time and some late, and some not at all. He is globally developmentally delayed. He smiled at 2 months and laughed at 3 months. He started cooing at 3 1/2 months. He has spoken many words and even some sentences and tries to imitate words but his oral communication is significantly less now than what it was when he was younger. However, Sam’s receptive speech seems age appropriate. Sam started commando crawling when he was a year old and crawling on all fours when he was 2. He started walking with a gait trainer when he was 3 and now uses a reverse walker or he can walk short distances just holding onto his service dog’s leash. Long distances requires the use of a stroller.
Sam is non-verbal. When he initially started trying to say words he said mostly those that started with the letters b and p. Over time he has lost most of his words and he mostly says mama and dada now though every now and then he surprises us by trying to say something new. He has used different means of communication through out the years but the most successful one we found for Sam is the one he uses now which is an iPad with the Proloquo2Go app. He used several signs when he was younger but his fine motor skills were never good enough to keep up with sign language.
Sam has several orthopedic issues. He has spasticity in his lower extremities with the right side being more affected. He has poor trunk stability and low tone in his upper extremities and hands. He is considered to have dystonia with fluctuating tone in his lower extremities. It took almost a year to stretch out the congenital contractures of his ankles, knees, hips, elbows, and shoulders. Unfortunately Sam has a severe scoliosis that was diagnosed when he was only a couple of years old. He has had seven surgeries so far to place hardware and will have several more before he receives a spinal fusion when he is 14 or 15 years old. He wears bilateral AFOs and has for years. They are not to help him walk but rather to keep his ankles in proper alignment so they don’t dislocate secondary to the spasticity. Sam will also likely have muscle lengthenings of his hamstrings and gastrocs some time in the future.
Visually Sam is nearsighted but can see 20/20 with his glasses. He has had three strabismus surgeries and three temporary lid lifts. He still needs to have a permanent lid lift and some cosmetic work on the epicanthal folds. He does not have good depth perception and it seems his visual system never fully developed possibly because of the ptosis.
Last year Sam was diagnosed with PDD-NOS by a psychologist and of course the school district has labeled him with MR. He has some autistic-like behaviors (hand clapping, repetitive movements, stimming) and he certainly is not anywhere close to an age appropriate level socially. Sam will occasionally interact with his siblings or classmates but usually he keeps to himself. He spends most of his time with his Nintendo DS or iPad manipulating the games to find a certain sound or type of music he likes to listen to. This year he started participating in Special Olympics track and playing on a baseball team for kids with special needs.