David Tufo
Born 07/01/1987
Written by Ralph Tufo

David was born 2 weeks premature via Caesarean section. His birth weight was 6lbs. 5oz. His Apgars were 7 at one minute and 9 five minutes.

David at 7 1/2 Years of Age.

The doctors reported that he appeared rather immature compared to his gestational age. In addition to the absence of breast tissue and lack of creases and poor ear cartilage, David had pitting edema of all the extremities. During the first hours of life, he developed cyanosis and lethargy following feeding and an episode of eye rolling and lip smacking. He was hospitalized for two weeks at Beth Israel Hospital in Boston where he had a work-up including normal ultra-sound, CT, EKG, chest x-ray, and an EEG. Upper GI showed reflex. David had developed some apnea and bradycardia all of which resolved thereafter. He was sent home after a two week stay in the neo-natal unit.

During his first year the doctors were concerned with his slow growth, hypotonia, developmental delay, and dysmorphism. His weight gain was quite slow, going along the fifth percentile in length and weight until the third month of life. After the third month, the weight gain tapered off and so did the length. Since then his height and weight have been below the fifth percentile. At nine months he was still jot tolling over, was unable to situp, reach, or grab for objects. In addition, he had stabismus, undescended testes, and some dysmorphic facial features. At eight months of life hypothyroidism was first detected and treatment with Synthroid was started.

His initial neurology visit was at the age of seven months. The neurologist reported that David exhibited significant developmental delays across the board. The anterior fontanelle was large and his head size was below the 2nd percentile. Craniofacial features reveled and upward eye slant and bilateral esotropia and rather long philtrum and thin upper lip. His ears were large and somewhat flabby. Mile hypotonia was present throughout with diminished reflexes in all areas. Developmentally, he was functioning at about a 3 to 4 month level showing some degree of visual tracking and social smile. At nine months he had a second neurological exam showing very little developmental progress. He had a brief work-up in the Neurometabolic Clinic. David had a normal electroytes, ph, bicarb, blood ammonia, blood lactate, pyruvate, blood and urine amino acids, organic acids, canitine, and biotinidase activity. At 10 months he was hospitalized at Mass General Hospital for further neurological testing. His MRI brain scan revealed white matter abnormality and severe cerebellar atrophy. A series of blood tests were also administered for CSF metabolic diseases which turned out to be normal.

When he was one year old, the doctors reported that David had recurrent puffiness of both dorsal aspects of hands and feet and intermittent thickened appearance of the thighs and buttocks areas. These were episodic and disappeared complete, off and on. A skin biopsy was performed and it was normal. A repeat EMG/nerve study showed no evidence of peripheral neuropathy.

At 15 months he was seen in the GI clinic for failure to thrive. They tested his liver functions and detected mildly abnormal liver functions and an enlarged liver. He was seen by a nutritionist for further advice. At 16 months he was hospitalized at Boston Children’s Hospital for a sudden discovery of pericardial effusion. At the same time, other specialists discovered that the liver enzymes were remarkably high. He spent a total of 6 weeks in the hospital at that time. When he left , we then began tube feedings at home using the nasal tube and continued this for six months until he had an operation to receive a g-tube. He has had a g-tube ever since then.

At this point he was being followed by a team of doctors including GI, neurologists, cardiologist, orthopedic doctor, geneticists, endocrinologist, eye doctor, ear doctor (David was diagnosed with a mild hearing loss) nutritionist, feeding team, dermatologist. He had been tested thoroughly by doctors from Mass General, Boston Children’s Hospital, Beth Israel, The national Birth Defects Center, and the Harvard Community Health Plan. He saw everybody except for a gynecologist. However, he was still undiagnosed and remained so until he was six years old.

At 2 1/2 years, he underwent surgery for bilateral undescended testes. GI follow-up continued for intermittent vomiting and eshogitis treat with Reglan and Cimetidine. Liver functions improved yet weight gain still remained a problem despite tube feedings.

At 5 years, he had a seizure in the setting of a fever during a severe flu. He was hospitalized and started on Dilantin. After one month, he was back to baseline functioning. He was removed from seizure medication a few months later and has not had another episode of seizures since then. He has periodically been susceptible to many colds and flus and has on occasion been hospitalized briefly for the effects of the flus including dehydration. He bounces back from these bouts of the flu after a week or two and tends to regain the weight he looses after a month.

At six years old, he was diagnosed with CDG. His neurologist sent blood tests to The National Institute of Health. We subsequently visited the NIH two years ago and David underwent another series of test to confirm that he has type 1 CDG.

Currently at nine years old his major medical issues seem to be dealing with his frequent bouts of colds and flu. Overall, he is healthier and stronger than his early years. He still has the pericardial effusion but does not appear to be compromised by it at all. He still takes medicine for his under active thyroid and his gastrointestinal reflex. He eats three meals a day with varying amounts eaten per meal. He eats rice cereal, ground-up meatballs, pasta, sliced deli-meats, bread, cream cheese, etc. He does a limited amount of self feeding, drinks with a straw, and often exhibits difficult behaviors at feeding times. We have been advised by the feeding team at his school how to use various behavior modification techniques to deal with his feeding behaviors. At night he receives approx. 24 ounces of Ensure through the g-tube to supplement what he eats during the day.

Developmentally, he has made slow steady progress in several areas. His “strong suit” is receptive language. He is able to understand a great deal of what you say to him and can follow a series of directions like, “David, crawl out of the bed, feet first and meet me at the changing table.” He uses about twelve words and several word approximations. He has a communication book and can successfully point to the pictures that he wants. His activity level has increased tremendously since he was younger. He plays with a lot of toys, loves to unpack everything in the house, and enjoys music a great deal. He will pound on a piano or drum or dance around if you hold his hands. He can crawl very well, walk up to 1/4 mile if you hold his hands, use a walker with assistance, and operate a manual wheelchair very well. His grasp and arm strength is very good. He enjoys watching Barney and Sesame Street videos and any children’s shows that have a lot of music. He loves to wrestle with his older brother who is 13 and in general David is very sociable and happy except for when he is sick.

He used to wear a body brace for curvature of the spine but no longer needs to wear one. He also had AFO’s (leg braces) for weight bearing but now has shoe inserts instead. He stands in a prone stander and also has a Leke chair (large adapted high chair) for feeding. We are now in the process of ordering an adapted potty chair. He has had some limited success using one in school. We had a porch lift installed three years ago and are presently exploring the possibility of buying a wheel chair van.

David receives 15 hrs..per week of visiting nurses’ assistance at home and 10 hrs.. of respite care per month. He has attended the Franciscan Children’s Hospital Day School since he was 3 yrs.. old. in addition to classroom instruction he receives PT, OT, speech, adaptive physical ed., and nursing services while at school. He attends Handi-Kids Day camp for two weeks in August each year. Because of the extensive medical and educational services that David has received over the years, we feel that this umbrella of services has enabled him to make slow but steady progress since birth.

At times we as a family have been overwhelmed and stressed to the max because of the intensity of David’s needs. It has been extremely difficult during times of his hospitalization to stay at the hospital with David, take care of Steven, his older brother, and maintain a household. My wife is a member of a local support group for parents of children with severe special needs and also a member of the parent advisory board of special needs parents in our town. I rely a great deal on my family and friends for emotional support to make it through the hard times. Our older son has grown to accept David’s condition over the years and has adapted very well. He is a very healthy and active teenager now and does help us take care of David for short amounts of time. Both myself and my wife are teachers and our schools have been very supportive and understanding when we’ve had to take off days from work because David was sick or we had an appointment. We have had to call on friends and family to help us out on several occasions. We take all the help we can get.

Our outlook for the future is positive. In many ways he is healthier and making progress in several areas. We hope that the bouts of flu will diminish as he continues to get older and stronger and that he will be able to reach his potential with the help of God. We look forward to talking with other parents of children