Update on Adam Fulton

8 years old with LCHAD

Adam’s story was first published in the OAA and FOD Newsletters in 12/93 and 6/95 respectively, and an update was published in both in 1996. It is hard to believe that

Adam is now 8 years old. At the end of our last story we were starting to consider some potential long-term effects of LCHAD. At that time we were concerned in two areas, one being effect of frequent breakdown of muscle tissue in Adam’s body (Rhabdomyolsis), and the other the long term effect of a deficiency of DHA 4 on his retinas.

When Adam has an LCHAD attack his metabolism is out of balance. His body is in need of energy sources to perform the voluntary and involuntary activities that keep his body functioning. For most children short- term energy needs are met by eating carbohydrates. After a certain amount of activity though these short- term energy sources become depleted. Unless more carbohydrate sources are digested, the average person must progress to the long-term energy source in the body -the fat. Any lengthy continuous activity will require the use of fat reserves to keep the body functioning.

Adam like all of the children with deficiencies of fat metabolism can only use a portion of the fat in his system for energy. Unless he eats frequent meals high in carbohydrates, he will become energy depleted. If this state not quickly alleviated, his muscle tissue begins to break down in an unsuccessful attempt to provide an alternate energy source. The extreme symptom of this energy-depleted state is Myoglobinuria 3, which is the breakdown of muscle tissue to such an extent that it can be measured in the urine. Since reported in 1996 Adam has suffered many of these Myoglobinuria attacks, which have resulted in hospitalization for from 1 - 10 days. During these hospitalizations he has been given an IV solution of 10% dextrose at over 100 ml/hr to rehydrate his system and protect his kidneys.

There are several reasons why Adam develops Myoglobinuria. If he has even a slight viral infection his cells have a hard time utilizing even the little bit of fat that his body can metabolize. This also happens when he has a bacterial infection or any metabolic stress such as exercise, sunburn, altitude, cold or hot temperature or even emotional upset. Adam’s body is very much affected by dehydration and any of these metabolic stressors. However, sometimes if he is flooded with fluids, Myoglobinuria won’t occur. Under metabolic stress we give him 6-12 oz. per hour of fluids to rehydrate

The first indicator that Adam is in metabolic stress occurs when he claims to have ‘hurty legs’. This is severe aching in his legs that usually begins in his calves and works quickly up to his thighs and other parts of his body. Sometimes the onset of these symptoms is extremely sudden and very severe. The severity of the pain though doesn’t always lead to hospitalization. Once, for example, on a brisk but sunny and windy afternoon we spent about one hour at the ocean followed by about a one-hour visit with a friend. After this we went directly to a fast food restaurant nearby. Adam’s legs began hurting as we seated ourselves. By the end of the meal, although he drank some fluids, Adam had severe muscle pain in his legs, arms neck and chest. He complained it hurt to breath and talk. His Dad lugged all 87 pounds of him to the car and home where we continued to hydrate him with fluids like water and Capri Suns. He overcame this incident without hospitalization! Another time a short round of Miniature Golf was all the exercise/metabolic stress he needed to be hospitalized.

We are quite frustrated by these sometimes seemingly random ‘hurty leg’ attacks. Sometimes when we expect them, they don’t occur, and other times out of the blue he gets sick. This is very difficult for us and even though we monitor his activities constantly, sometimes all of our attentiveness fails. We are concerned that if Adam’s muscle tissue is so frequently breaking down that he is losing muscle mass. which will not grow back.

At this time we are particularly anxious because at a 15-minute aerobic exercise session at Occupational Therapy 3 weeks ago lead Adam to complain at least once or twice a week of ‘hurty legs’. One week when he was complaining particularly frequently I brought him for a CPK (Liver Enzyme) test to determine if his muscle tissue breakdown was worsening. His urine was still light so muscle breakdown could not be detected by sight. He was tested on a Friday afternoon, CPK 30,000, Saturday afternoon, CPK 17,500, and the next Tuesday, CPK 850. We don’t usually run to the lab for CPK tests every ‘hurty leg’ episode but since it was the beginning of a 3 day week end, I wanted to find out if he needed to be hospitalized over the weekend while we could still communicate with his doctors. I’m sure a lot of you have had to experience a visit to the ER where even with a Protocol, unless they can speak to your child’s doctor, very little is done. I don’t know what normal CPK is, but when Adam has been seen in the hospital it has gone as high as 165,000. We think some of Adam’s ‘hurty leg’ attacks are just caused by sore muscles from exercise but how do we tell the difference? We want Adam’s OT to give us some low impact aerobic exercises that he can do a few minutes each day. Hopefully this might help increase his muscle strength so they won’t hurt after a little exercise and also help Adam metabolize some of the chubbiness off his middle.

Another long -term LCHAD deficiency results in pigmentary retinopathy 5, which is gradual pigmentation in the retina causing severely impaired vision. Since 1996 Adam has been participating in a study through the Wiseman Center at the University of Wisconsin, Madison. They provide DHA, a component in fish oil that is needed for retinal health. Taking fish oil directly would be harmful for children with a severely fat restricted diet. Martex Pharmaceuticals has taken the DHA out of the fish oil and provided a powder so fat restricted diets can have an essential element for retinal health. Adam goes to Wisconsin once a year for extensive eye tests including an ERG to determine if the DHA he takes twice daily is helping maintain his retinal health. Since abnormal retinal pigmentation was observed in Adam’s eyes in the summer of 1995 at age 3, no further pigmentation has occurred and his vision is still within the normal range.

We know the least about the long term LCHAD side effect of peripheral sensory-motor polyneuropathy 6. We only know about what we have read in research. From our understanding this involves a gradual lessening response of skeletal muscle. Adam is a little delayed in gross and fine motor coordination, which may be attributed to his first very severe LCHAD Episode when he did lose, some muscle mass. Or perhaps this is the result of some peripheral sensory motor polyneuropathy.

Adam has come a long way from the very sick 5-month-old baby, which he was in May 1991. It is very encouraging that with a few modifications of diet and exercise he can do so well. We try as much as possible to let him be a ‘normal’ little boy. He doesn’t play soccer like his brother but does play baseball, is on a summer swim team, rides his bike, rollerblades, and participates in children’s theater. His favorite activity is watching the Disney Channel while dressing up in a costume and making huge messes in every room. We don’t completely ban him from all very high fat foods. We let him try them so they won’t be a enticing ‘no no’ but always try to educate him as to what he can and can’t eat and how much of each. He is allowed 20 grams of fat a day or 10% of his diet. Other LCHAD children we know are on much more restricted a diet. We sometimes wonder about if it is too much since Adam is rather chubby. Maybe he is eating too much fat or just too much food. His favorite foods are sushi ( not raw fish but rice sometimes with fish on it), and plain white rice with Teriyaki Sauce. There are very few LCHAD individuals older than Adam since most died of severe LCHAD complications as an infant. We really can’t know

Adam’s life expectancy or what long term problems may result as he grows up. We would like very much to talk to any LCHAD families, particularly those with older children than Adam and LCHAD adults. We would also like to communicate with LCHAD families and health care providers about various diets, quantities of Carnitine and MCT oil taken daily etc. He is very chubby compared to all of the other LCHAD children we have met (four of them) and we are worried that he is getting too much fat or too many calories.

Don and Valerie Fulton

Email vallchadmom@yahoo.com

1. Long chain 3 Hydroxy acyl Co A Dehydrogenase Deficiency
2. Adam's Current Formula:
• 18 ounces of fat free milk divided into 3 6 oz bottles
• 1st given in the morning supplemented with 1t Carnitine and 3T of MCT Oil
• 2nd given after lunch - around 2:00 with the same ingredients as the morning bottle
• 3rd given at bedtime supplemented with 1t Carnitine, 2T MCT Oil and 3T of Cornstarch
• Adam also has 1/4t DHA twice daily in 6 individually stuffed size 1 gelatin capsules
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. 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
5. Retinitis Pigmentosa - A group of diseases, frequently hereditary, marked by progressive loss of retinal response.
6. See: Bertini, Dionisi-Vici, Gravaglia, Burlina, Sabatelli, Rimoldi, Bartui, Sabetta, DiDonato: Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency; European Journal of Pediatrics; June 14, 1991
7. See: Tyni, Kivelä, Lappi, Summanen, Nikoskelainen, Pihko; Ophthalmologic Findings in Long-chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Caused by the G158C Mutation; Opthalogy Volume 105,Number 5, May 1998