Update on Adam Fulton

5 years old with LCHAD

The story of Adam was published in the OAA and FAO news letters in December 1993 and June 1995 respectively. When his story was first published there was little research on LCHAD survivors. Now in 1996 we know of several families around the world who have LCHAD children that have survived past early infancy. Many, like our son, are doing well. However, now that more LCHAD children are being quickly diagnosed and successfully treated, it is time to look at the potential long term health problems caused by this rare genetic disorder.

Adam was metabolically stable from 7 mo. to 3 1/2 years, suffering only from a bout with chicken pox, and a few colds and ear infections that required the usual treatments. He was fed a special formula 2 by NG tube up to age 2. As he became stronger the NG tube was used only for night time feedings and when he was sick. At 2 the addition of cornstarch to his formula eliminated the need for a nighttime feeding, and made the NG tube unnecessary. Except for his need for this special high carbohydrate formula and daily Carnitine requirement, Adam was functioning and developing like a normal toddler. We had read in research papers about LCHAD children experiencing sever muscle pain, myoglobinuria 3, and retinal abnormalities. However, Adam seemed so healthy, and his metabolism was so well controlled that we thought he might be exempt from these serious complications.

In July 1994 we were enjoying a vacation at a family camp in the mountains when Adam's stable metabolic state came to an abrupt end. Several subtle factors combined to trigger a severe LCHAD episode. We were at high altitude (~6000 ft.) which made his body work harder to cope with exercise, dehydration, and keeping warm. He also had a slight cold or respiratory distress due to the dust, and was too excited to take naps.

In the afternoon of the second day of our vacation, after being in the swimming pool, Adam complained of muscle pain in his legs. Within an hour his legs hurt too much to walk. At dinner time he vomited. We tried feeding him formula and fruit juice, but he felt so bad he didn't take very much. He slept fitfully during the night, whimpering due to severe muscle pain. By the next morning he was too weak to sit up, his breathing was labored, and his urine was dark brown. We rushed him to the local emergency room facility about 45 min. away. By the time we got him there he was too weak to lift his head. Luckily we had a letter with us from his metabolic doctor describing his treatment protocol. He was put on a high volume IV of 10% dextrose to stabilize his metabolic condition and protect his kidneys from the myoglobinuria. He was then transferred by ambulance to the local Kaiser hospital in Sacramento over 100 miles away where he remained for 8 days.

Adam was very weak after this episode. He couldn't walk for several days. We were devastated by this extreme and sudden set back in Adam's condition. Of course the fact that it happened in the middle of our vacation didn't help either. Another devastating blow was yet to come. While Adam was in the hospital his eyes were examined and it was discovered that he had the beginnings of abnormal retinal pigmentation.

Adam's illness in July 1994 was the most serious since his initial LCHAD presentation at 5 months. Since then he has been hospitalized for myoglobinuria in December 1994, February 1995, May 1995, and February 1996. We believe these later episodes were brought on by a combination of factors including, mild viral infection, lessened nutritional and fluid intake, and vigorous exercise. These succeeding episodes were much less severe requiring only 1-2 nights in the hospital.

With each succeeding episode we are learning more about how to avert an episode at its onset, or at least lessen is severity, so that Adam doesn't require hospitalization. He has begun to recognize the initial symptom, "hurty legs" and be able to differentiate "hospital hurty legs" from simple muscle fatigue. Many times now we have been able to stop the muscle breakdown before it progresses to myoglobinuria. Our main treatment is to increase fluid and carbohydrate intake through his special formula, Gatorade, fruit juices, and water. Sometimes it is difficult to get him to take these extra feedings since he does not have a G-tube, and must take everything orally. Also when he is feeling bad he vomits and must be re-fed which is very stressful for him and us. However, he now is getting old enough to understand that cooperating with us will help keep him out of the hospital.

It is very stressful to know that any little cold can upset Adam's metabolism to the point that the preventative measures are ineffective and he must be hospitalized. We have read in the research literature that continued episodes of myoglobinuria can lead to permanent muscle tissue loss and progressive muscle weakness.

With myoglobinuria the most important thing is to try to prevent it with increased carbohydrates and hydration during times of metabolic stress. One research paper 4 suggests that treatment with steroids may be useful to increase muscle tissue. However, severe are known to occur with steroid use.

Our second major health worry for Adam is the abnormal retinal pigmentation which seems to be present to some degree in almost all LCHAD children, progressively affecting their vision as they mature. Some research suggests that DHA 5 present in fish oil might help prevent retinitis pigmentosa 6, but some of the side effects of fish oil are severe. Recently a process for extracting a pure form of DHA has been developed and initial trial treatment of LCHAD children may begin soon. The long term value of this treatment will not be known for quite a while, but hopefully it will be helpful in preventing retinitis pigmentosa.

We were encouraged that Adam had gone 9 months without a major problem after his hospitalization in May 1995. Adam is now better able to communicate to us how he feels so that we can respond rapidly. We have been able to reverse several minor attacks with increased fluid and carbohydrate intake. However, in February Adam had to be hospitalized for two days with myoglobinuria. This was apparently caused by increased exercise combined with insufficient nutritional intake. It is still baffling to us that he is able to exercise vigorously on other occasions with no ill effects. He has been on several long hikes, and just one week after this last hospitalization he was skiing at over 6000' with a wind chill near zero. We are hopeful that we will be able to prevent most serious episodes as our knowledge on what causes the episodes and how to prevent them increases.

We would be interested to hear from other LCHAD parents about myoglobinuria and retinitis pigmentosa.

1. LCHAD - Long Chain 3-Hydroxyacyl-CoA Dehydrogenaese Deficiency
2. Adam's Current Formula:
• 1/3 Cup Polycose (no longer covered by our insurance)
• 1/3 Cup Provimin
• 3 Cups Non-Fat Milk
• He receives 15 cc's of Carnitine daily
• 1 teaspoon MCT Oil (not covered by insurance @ ~$80.00 per quart)
• 2 teaspoons cornstarch in his morning bottle
• 1 teaspoon cornstarch in mid day bottles
• 3 teaspoons cornstarch in his late night bottle
• He drinks 24 ounces of formula a day
3. Myoglobinuria - The presence of myoglobin, a globulin found in muscle serum, in the urine as in a deficiency of muscle phosphorylase, in crush injuries, and after vigorous and prolonged exercise in susceptible persons.
4. Tein, Donner, Hale, Murphy; Clinical and Neurophysilogic Response of Myopathy and Neuropathy in Long Chain 3-Hydroxyacyl-CoA Dehydrogenaese Deficiency to Oral Prednisone; Pediatric Neurology; 1995 Vol 12 1:68-76
5. DHA - Docosahexaeonic Acid
• See: Calson, Werkham, Rhodes, Tolley; Visual Acuity Development in Healthy Preterm Infants: Effects of Marine Oil Supplementation; Am. J. Clin.. Nutr. 1993:58:35-42
• See: Gang, Rosner, Rees, Berson Weigel-DiFranco, Schaefer; Plasma Docosahexaenoic Acid Levels in Various Genetic Forms of Retinitis Pigmentosa; Investigative Opthalmology & Visual Science; 1992:33:2596-2602
6. Retinitis Pigmentosa - A group of diseases, frequently hereditary, marked by progressive loss of retinal response.