Adam's Story

2 years 10 months

by Valerie Fulton

After a stressful pregnancy Adam was delivered by emergency C-Section at 35 weeks weighing 4 lbs 4 oz. I had developed a rare disease of pregnancy called HELLP Syndrome** and we both would have died within hours from my rapidly progressing kidney and liver failure if the pregnancy were allowed to continue. We were rushed by ambulance to the nearest Kaiser facility with an intensive care nursery where the C-Section was performed. Adam recovered quickly and required only a few hours on the respirator. When Adam was 6 days old we were both out of intensive care and well enough to go home.

Adam progressed satisfactorily for the nextt 4 months although he showed some delay in motor development. I was concerned that at 3 months of age he could not lift his head when on his tummy. His two older brothers had done this with ease at this age. However, both were term babies weighing 9 pounds each, so the delay was attributed to his prematurity.

At 4 months Adam began to sleep through the night, which eliminated his middle of the night feeding. For the next month his health was stable, but there was little or no weight gain. Two or three days prior to his hospital admission, we noticed that he was not feeling well and seemed to have a slight cold. He had recently stopped taking solids and tended to frequently spit up in the morning. Also his sucking appeared to be weaker. Until this time Adam usually consumed from 20 to 26 oz of Enfamil with iron daily, but 2 days before admission he took 16 oz and only 9 oz on the day of admission. While waiting to be seen in the ER he appeared to want to spit up but was too weak to do so, and he was irritable and crying. His condition rapidly deteriorated until he appeared to be completely lethargic and non-responsive with a glazed look in his eyes. He was immediately tested for Meningitis, and his father and I were questioned about a possible drug overdose. His vital signs were stable and he weighed 12 lb 14 oz. Blood was drawn and other tests were administered. Initial symptoms appeared to be hypotonia, hypoglycemia and hepatomegaly. He had an enlarged liver and a blood sugar of 32. He was put on a glucose IV solution, which stabilized his condition. He remained in the hospital 5 days for further tests. Dr. John Mann of the Kaiser Department of Genetics was the principal consultant, and recommended several tests for genetic and metabolic defects. Urine and blood samples were taken and sent to several research labs around the country that specialize in this type of testing. During this hospital stay Adam's formula was changed to 2 to 3 oz Isomil every 3 hours. He was discharged after 6 days. Four days later the initial test results came back showing abnormal organic acids as well as fatty acids in the urine. This indicated a possible defect in the fatty acids metaboism.

After 8 days at home, he was re-admitted for a complete metabolic work up. His weight had gone down to 12 lbs. Adam was given many tests including head ultra sound, EEG, and MRI. Chest X-rays showed borderline cardiomegaly. A CT Scan of Adam's liver showed hepatomegaly with diffuse fatty infiltrate. A punch biopsy of his left thigh was taken and sent to Dr. Hale at Philadelphia Children's Hospital for a celll culture analysis. A variety of urine and blood plasma samples were collected and sent to Dr. Neil Buist at Oregon Science University for study of organic acid excretion and serum guanidine organic acid levels.

During this hospital stay Adam was irritable fussy, and sucking poorly. When discharged 5 days later his weight had increased to 12 lbs 2 oz, which was still below the 10th percentile. Since there was evidence that Adam had a problem metabolizing long chain fat, his formula was changed to Portagen, a middle chain fat formula, as recommended by Kaiser's Regional Metabolic Nutritionist Elena Jurecki. Also L-carnitine was added to his formula. Carnitine is a protein present in everyone's body, which is thought to help move fat in and out of the mitochondria of the body’s cells.

The results of the urine tests and cell culture confirmed the initial diagnosis. Adam had Long Chain 3-Hydroxyacyl-CoA Dehydrogenese Deficiency (LCHAD), a deficiency in an enzyme that metabolizes long chain fat within the mitochondria of all body cells for energy production. This is an extremely rare condition which has only been diagnosed since 1987 with only a few cases reported world- wide. It is one of a family of disorders of fatty acid oxidation caused by a recessive genetic defect.

While Adam was at home this time his sucking stopped completely. We attempted to feed him for several days with an eye dropper which proved to be extremely stressful for both Adam and us. During this period Adam had an echocardiogram administered by pediatric cardiologist Dr Claude Roge at Kaiser San Francisco. It showed some myocardial thickening, but his heart was functioning normally.

At his next clinic visit 5 days later Adam's Pediatrician, Dr. Arthur Stein, was quite concerned by his poor color and weight (11 lb 12.5 oz). He immediately re-admitted Adam to the hospital and started him on a low fat formula of Tolarex supplemented with Isomil with a minimum fat requirement of 15% (a normal infant diet is approximately 55% fat). Since his sucking had dramatically decreased, he was started on NG tube feedings initially at 2 oz every 4 hours, which he tolerated well. During this hospital stay we were visited by Dr. Mark Lipson of the Kaiser Area Metabolic Consulting Center in Sacramento who provided one of the few encouraging statements we had heard. He said that Adam's heart seem to be less affected than most of the other l0 or 12 cases of this disease so far documented world- wide.

Frankly at this third hospital admission, I was certain Adam would not be coming home again. He was so weak, not eating, and even having difficulty swallowing. At one point his weight dropped to less than 10 pounds. His Pediatrician was also very pessimistic. We were asked if we wanted resuscitation if Adam's heart or breathing stopped, and we were given specific instructions as to how to proceed if Adam died in the hospital, or after we had gone home.

However, the strict regimen of frequent low fat feedings by NG tube gradually brought him back to a metabolically stable condition. Adam was able to go home after 17 days in the hospital. Except for a few set backs, his health continued to improve. His weight and strength increased rapidly. Within a month Adam could raise his head. Regular echocardiograms showed a decrease in the myocardial thickening. Within 6 months his heart appeared normal. However, his gross motor skills were somewhat delayed, and he didn't walk until he was 15 months old. His speech was also delayed due to his feeding problems and the NG tube.

Adam remained on the NG tube feedings continually from 6 months to 24 months. He was initially fed 6 times a day (including 2 am) His formula] consisted of a combination of Polycose, Isomil and Provimin with an L-carnitine supplement. This provided him with a high carbohydrate diet with the 15% minimum fat required for essential growth. At approximately 20 months Adam visited the hospital for an overnight fasting test. He went 12 hours without eating His blood sugar levels were checked at regular intervals. It was determined that he could fast as long as 12 hours without developing serious side effects. His daily diet was decreased to five 6 oz bottles supplemented with 2 tablespoons of cornstarch in each bottle. His middle of the night bottle was eliminated and his late night bottle supplemented with 3 tablespoons of cornstarch. Cornstarch is a very complex carbohydrate that takes a long time to metabolize. It acts as a time release carbohydrate for Adam. The elimination of the middle of the night feeding was not only a great relief to his father and I, but it also made it possible to consider removing the NG tube.

By approximately 20 months of age, when not ill, Adam was taking most of his daytime feedings orally. But occasionally, without warning, he would vomit after a feeding, possibly because the NG tube was affecting his gag reflex. At these times we became very frustrated, especially when it happened two or three times in a row.

From l0 to 24 months Adam experienced frequent ear infections (approximately one every 6 weeks). At 14 months he had a severe case of Chicken Pox, which the doctors were pleased he could weather without hospitalization. By his 2nd birthday we were able to remove the NG tube occasionally when Adam wasn't sick and was eating well enough. Whenever we had to reinsert the NG tube we noticed a regression in sucking and more frequent vomiting. He always ate better and vomited less frequently when the NG tube wasn't in. At 23 months his formula was changed so that it was completely fat free, consisting of non-fat milk, Polycose, and Provimin with a supplement of cornstarch and L-carnitine. He now has three to four 6 oz bottles of formula a day with the cornstarch supplement, and he has more solid food, which supplies essential fats.

Adam will be 3 on December the 21st. For a baby who was not expected to live at 6 months, he has developed into a normal rambunctious "terrible two". He is more active and gets into more trouble than either of his brothers at this age. His only hospitalization since his initial illness and testing, was because he had swallowed pennies which lodged in his throat. He has grown in height and weight. He is very intelligent and curious, and talks up a storm. Possibly because of his high carbohydrate-low fat diet Adam has more energy than the rest of his family. He is often still up and running around after the rest of us are ready to retire for the night. Adam's doctors are amazed at his progress. He is a real miracle child.

* LCHAD = Long Chain 3-Hydroxyacyl-CoA Dehydrogenese Deficiency, a deficiency in an enzyme that metabolizes long chain fat within the mitochondria of the of all body cells. Almost all of the fat in a normal diet is long chain fat.

** "HELLP Syndrome is characterized by microangiopathic hemolytic anemia, elevation in SGOT/SGPT, and thrombocytopenia in pre-eclampsia. In addition to biochemical changes in liver function, hepatic rupture, hemorrhage, and death may occur." From "Complications in Pregnancy" (A manual for OBGYNs)