Adam’s Story ~ LCHAD (and Updates)
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 newsletters in 1996. It is hard to believe that he is now 8 years old. At the end of our last story we were starting to be concerned about long-term effects of LCHAD.(1)
We were concerned in two areas at that time, one being the long term effect of frequent breakdown of muscle tissue in Adam’s body, 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 taken care of by eating carbohydrates. After a certain amount of activity though these short term energy sources become depleted and unless more carbohydrate sources are digested, the average person must go on to utilize 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 very small portion of the fat in his system for energy. He must eat frequent meals high in carbohydrates to supply most of his energy needs. If his carbohydrate supply becomes depleted or his system is under some type of unusual stress, his body will try to metabolize fat for energy. Since he does not have the enzyme to convert the fat to energy in the mitochondria of his cells toxic substances are produced instead of energy. If this state is not quickly alleviated, his muscle tissue begins to breakdown in an attempt to provide an alternate energy source. The extreme symptom of this metabolic crisis is Myoglobinuria (3) which is the breakdown of muscle tissue to such an extent that it can be measured in the urine. Since our last update in 1996 Adam has suffered many of these Myoglobinuria attacks which have resulted in hospitalization for from 2 – 6 days. During these hospitalizations he has been given an IV solution of 10% dextrose at over 100 ml/hr to re-hydrate his system and protect his kidneys.
There are several reasons why Adam develops Myoglobinuria. If he has even a slight viral infection, his body seems to try to metabolize more fat than his cells can cope with. This also happens when he has a bacterial infection, and with any metabolic stress such as ex- exercise, sunburn, altitude, cold or hot temperature or even emotional stress. Adam’s body is very sensitive to dehydration and any of these metabolic stress situations.
The first sign we have that Adam is in metabolic stress is 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, we spent about one hour on a brisk sunny but windy afternoon at the ocean soon proceeded by about a one-hour visit with a friend. After this we went directly to a semi-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 breathe 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 and 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 try to monitor his activities constantly, sometimes all of our attentiveness fails. We would very much like to hear from other LCHADS and their health care providers who cope with diseases of fatty acid oxidation. We are concerned that if Adam’s muscle tissue is so frequently breaking down, it is becoming weaker.
At this time we are particularly anxious because a 15 minute aerobic exercise session at Occupational Therapy 3 weeks ago has 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 weekend, 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. Does anyone else have many unexplained incidents of ‘hurty legs’ in their Fatty Acid Oxidation children?
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 strengthen his muscles 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 which provides DHA (4) a component in fish oil that is needed for retinal health. Taking fish oil directly would be bad for children with a severely fat restricted diet. Martex Pharmaceuticals has taken the DHA out of the fish oil so those with severely fat restricted diets can still 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, no further pigmentation has occurred and his vision is still within 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. We would be very interested in discussing this LCHAD symptom with older LCHAD patients or their doctors.
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 butdoes play baseball, is on a summer swim team, rides his bike, rollerblades, and participates in children’s little theater.
His favorite activity is watching the Disney Channel while dressing up in a costume and making huge messes in every room where he is watching TV. We don’t completely ban him from all very high fat foods (2). 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 diet. We sometimes wonder about this because Adam is 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 so very few LCHAD individuals older than Adam because most his age and some even younger died of severe LCHAD complications or weren’t treated properly soon enough. We really can’t know the life expectancy or what long-term problems may result as Adam 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. We have recently lost our marvelous Metabolic Nutritionist and feel at a loss about new diet considerations. We really need knowledgeable input about Adam’s diet. 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.
- Long chain 3 Hydroxy acyl Co A Dehydrogenase Deficiency
- Adam’s Current Formula: 18 ounces of fat free milk divided into 3 6 oz bottles 1 first given in the morning supplemented with 1 t. 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 1 t. carnitine, 2T MCT Oil and 3T of Cornstarch Adam also has 1/4t DHA twice daily in 6 individually stuffed size I gelatin capsules
- 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.
- DHA Docosahexaenoic Acid
- Retinitis Pigmentosa – A group of diseases, frequently hereditary, marked by Progressive loss of retinal response.
- 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
- see: Tyni, Kivel5, Lappi, Summanen, Nikoskelainen,Pihko; Ophthalmologic Findings in Long- chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Caused by the G 158C Mutation; Ophthamology Volume 105, Number 5, May 1998
Adam’s 2008 Update
The big event for Adam, once he turned 16, was getting his Driver’s License. It gives him the independence to drive himself to and from his high school and to our swim club and other nearby places. It’s a huge relief for mom and dad, who don’t need to do as much chauffeuring!
Adam is now beginning his junior year at an all boys very competitive Jesuit high school. The first two years, for the most part, he thought his classes were easy. This wasn’t good because he just did a minimum of work to obtain a 3.4 GPA. He spent most of his time on Xbox 360 playing games with others around the world. In my day it was pen pals but now it’s on line gaming….
Adam is still on a summer cabana swim team that meets May through July. Like most teens in his age group of 15-18 year olds, he rarely goes to the 1 ½ hour 6:30am practice sessions. When he does, he has 1 tablespoon MCT Oil and 1 teaspoon of Carnitine mixed in 6 ounces of fat free milk before and after he swims. He doesn’t have the endurance to swim for more than 30 minutes of the practice. It is pretty embarrassing for him now because he’s the slowest on the team in his age group. But his friends are wonderful and never criticize him for being slow. At least he doesn’t DQ (disqualify for doing a stroke incorrectly). He loves the socialization of just hanging out with the team. He has discovered girls and between events can usually be found sitting on towels in some shady place surrounded by four or more girls.
Adam is the first to make “blind jokes” about himself. At his age he doesn’t talk to us about feelings so I don’t know if he’s really afraid he will go blind. In the past few years he has noticed more blank spots in his right eye. But he is able to turn his head to work around these and still see well. He even can see well at night. We took him to one meeting of the Foundation Fighting Blindness (a national or maybe international organization that supports people of all ages with diseases of the retinas). The meeting he went to separated into groups – parents of teens, teens, etc. so he was able to be with a group of teens suffering RP just like himself (Retinitis Pigmentosa). Most of these FFB 16 and older teens have their driver’s licenses too but wonder if there will be a time when they will have to give up driving. I think it is a great support group but Adam doesn’t think he’s really ready to be in such a group yet. And, as I said before, he doesn’t talk about his feelings. This also applies to when he’s in a group.
For most of the year, Adam is pretty inactive. His nutritionist and metabolic doctors would like him to be more active, maybe riding a bicycle or going to the gym on a regular basis. This would strengthen his muscles and give him some reserve should he have an LCHAD Episode. Perhaps I need to explain an LCHAD Episode. This is when he starts feeling severe pain in his limbs, particularly in his legs. This is caused by a breakdown of his muscles as they try to provide his body with energy when his sources of the small amount of fat he can metabolize and carbs are depleted. Of course muscles don’t give him energy, so they break down (Rhabdomolsis). The broken down muscles leave the body through the urine (Myoglobinuria). When he was younger, Adam usually had to go to the hospital for an IV when this happened. Since the age of 13, he’s been able to overcome LCHAD Episodes with just drinking massive amounts of Gatorade.
Since he was initially diagnosed with LCHAD at 6 months of age, Adam is seen every 6 months at the regional metabolic clinic. There he meets with a psychologist, his nutritionist, his metabolic doctor, and others. He completes blood work and a diet record before going so that the staff can analyze his metabolic control. After the appointments, the metabolic staff meets in a group and discusses their patients, sharing information between them that will help others. Since Adam’s health plan has a lot of members, in Northern California, there are actually two other LCHAD kids seen at the same metabolic clinic.
Adam has been in two additional studies since I last updated. He was in a two-week diet study at Oregon Health and Science University in Portland, Oregon. There he stayed in the hospital for 2 weeks, having blood work done and stress tests while eating a high carb diet one week and a higher protein diet the next. There is a tendency in LCHAD deficient individuals to become obese, which can lead to Diabetes 2. Being overweight isn’t healthy for anyone but for the LCHAD person it is worse. With Diabetes they would have to limit carb intake (which turns to sugars). For LCHAD deficient patients, carbs are a MAJOR source of energy. If they got Diabetes 2, their main energy source would be compromised. LCHAD kids are always told to eat carbs for energy. Adam LOVES rice and as an individual, probably eats more of it than someone living in Asia. Unfortunately too many carbs can easily make a person fat. He was very overweight at age 9 – 12 years, until puberty. He was always told he could NOT diet because it would be toxic to him to lessen calories. But at puberty he lost 17 pounds without dieting. This was probably not healthy for his body, but I don’t know how we could have stopped this from happening when he was eating the same amount of food.
The study at OHSU determined that there is less of a tendency for LCHAD people to become obese if they decrease carbs for energy and increase protein (the low fat type). This summer Adam entered a follow up study related to the first. There are around 14 LCHAD participants who make an initial 4 day visit to OHSU for base line blood work, stress testing, and an MRS fat scan. They are then sent home and told either to continue on their usual high carb diet, or to be on a higher protein diet. After 4 months, they will return to OHSU for more blood work, stress testing, and an MRS fat scan to see the results. Ideally, the researchers want to find that those on the higher protein diet will have more energy and less fat. Adam is in the carb group so he is continuing his usual diet.
We have been very fortunate through the years to keep in touch with many LCHAD families around the world. We met families in Sweden and Germany in 2002. This summer we again met Jane Carroll, our initial LCHAD friend. She has always been in better metabolic control than most LCHAD individuals. At age 14 she ice skates competitively and has no retinal deterioration. Some of this may be attributed to her having a G tube until age 13 and having a very carefully monitored diet. Anyway, we met them in Colorado where she was competing in the State Games. She won 3rd place in her division. We’re so proud of her!
We are now beginning to look for a university for Adam. Because of the expense, we want him to go to the University of California. However, the best campus location (Berkeley) is SO competitive. We don’t think there is a possibility of him being accepted. That would be the best location because it is the closest (5 miles) from his metabolic nutritionist and the hospital. When you have a child with such a rare condition, I think it is best that he be near medical professionals who know him and understand his condition. Our second choice would be the University of California at Santa Cruz. This campus is about 45 miles (and a very windy road) away from the hospital. Public transportation there is poor and we would probably have to go get him if he needed care. What if we weren’t home?? It is a big worry. We may just have him go to junior college for two years first and live at home. Of course he wants to move away like his middle brother, but that may not be the best for him.
I’ll try to update when he’s in college – maybe the first LCHADer to go to college? Someone can contradict me on this if I’m wrong.
Adam’s Diet Supplements at 16 Years
Multi vitamin daily, Ester C, Vitamin E, DHA, and Occuvite
3 – 4 6-ounce jelly jars of fat free milk. Each contains 1 tablespoon of MCT Oil and 1 teaspoon of Carnitine.
Limit of about 20 grams of long chain fat per day
Supplement with 20 + ounces of Gatorade when needed
Sample of His Daily (School Day) Diet
Breakfast: his 6oz milk supplement
Snack: Plain bagel
Lunch: Bowl of rice with soy or teriyaki sauce and his milk supplement
Snack: Bowl of rice, bagel, cereal or some carb
Dinner: Low fat meat, vegetables (he doesn’t like many)
Snack: Dryers low fat ice cream
Bed: Milk supplement
He rarely eats fruit and just a few vegetables. I hope the vitamin supplements provide him with the necessary vitamins.
For Adam’s 2010 update refer to the January 2010 newsletter.
Adam’s 2014 Update ~ 23 Years Old
I can’t believe it’s been so long since I’ve updated Adam’s Story! The last story was when he was 19 years old (Jan 2010 FOD Newsletter). Now he’s 23. Since then he finished his senior year at high school, graduated, and attended West Valley community College for 3 years before transferring to the University of California at Santa Cruz, where he is now a junior majoring in Bioengineering. It is a very difficult major and we are so proud of what he has achieved so far. Because of his health issues he will probably take 5 years to graduate but that is fine with us. He worries that he won’t graduate with his friends but his health is more important than graduating on time.
Last year, his first at UCSC, he lived in the dorm. We thought this would be a big challenge for him to stay healthy and eat properly along with the demands of his major and the ‘partiness’ of dorm life. He did well having a great supportive roommate. I just don’t get it that now in the dorms the men and women live on the same floor and share the same bathroom but I guess I’m just too old to understand.
Unfortunately, Adam has had 3 hospitalizations since starting college. They were mostly due to letting himself get into a fasting state, not getting enough sleep, and drinking alcohol. Of course he knows that alcohol inhibits fat metabolism, therefore depleting his energy sources more quickly but at his age, reason isn’t always in the forefront of his thinking. He has though learned from the severity of the last two hospitalizations, in September and October of this year, that he really can’t drink anymore. Usually one beer or a glass of wine will be ok but occasionally it will put him over the edge and he must be hospitalized. Fortunately UCSC is only about a 45-minute drive from our home (over the Santa Cruz Mountains). We have been able to go pick him up there and drive him back to San Jose and Kaiser Hospital, as there are no Kaisers in Santa Cruz.
Hospitalizations at his age are pretty scary. And as of January 2, he’s in the hospital again! He just doesn’t bounce back as quickly as he did when he was younger. During the first of the 3 recent hospitalizations it took days before his CK levels started to go down and the usual hospitalization time seems to be 5 or more days. Hospitalization #2 he was released too soon and had to return late evening of his release date. Besides his slow recovery time, we must still stay with him as much of the time as possible. We don’t sleep overnight in the room as we did when he was younger but need to be in his room to advocate for him and make sure he is receiving the right treatment. His metabolic doctor is WONDERFUL still. We call him on his cell when Adam is going to the hospital and he calls the ER and gets things rolling, cluing in the ER doctors and alerting them about his symptoms and treatment. However, even with this any time of day or night direct communication with his doctor (usually via text) on site, still mistakes are made. Since the hospital staff hasn’t ever treated an LCHADer, they really have no clue as to his treatment. Usually D-10 is administered too slowly or at too slow a drip rate. Or in September by mistake they took him off his IV drip for 6 hours. My husband is usually the wonderful parent who stays with Adam and finds follows his treatment.
When Adam is in a severe LCHAD Episode now, he for the most part loses his ability to talk clearly. He thinks it’s might be weak larynx muscles due to his continuous vomiting. He can’t annunciate consonants and he becomes very difficult to understand. That’s why a parent advocate must be present as much time as possible. And in the hospital it seems like the nurses make less frequent visits and when we push a call light sometimes it can be almost an hour before someone responds. Usually the doctor on call only visits once a day. Adam’s metabolic doctor is in another city 2+ hours away so he can’t visit and just keeps up with test results on line and talks to the on call doctor. I’m terrified that once Dr Lipson retires and Obama Care goes into effect, that there will be even less doctors and nurses available to care for Adam. Don is now 69 and I turned 67 this week. I don’t know how many more years we can stay with Adam in the hospital.
Adam’s eyes are worse. Every LCHAD episode affects them more. He still drives a car well, even at night. And he’s still in the monthly autocrosses (individual timed driving between cones in a parking lot) and occasional Track Days (driving around a professional race track with a group of similar cars at the fastest speed that is safe for each individual), but when he studies, he must have all the lights on at their brightest. A sad note he can’t see stars in the night sky. It just looks black. This is especially sad because his older brother is an Astronomer and now in the doctorate program at the University of Hawaii. One astronomer in the family, and one who can’t even see the stars!
We hope Adam will continue for the most part to do well. Now that his age is closer to 25 years when hopefully the adult brain is fully developed, he will continue to make more good decisions. He does take his 1T of MCT Oil and 1t Carnitine in a 6 oz bottle of fat free milk at least 3 times a day. He also drinks Gatorade when he knows he will be stressed mentally or physically. He also eats an occasional NUGO protein bar (nugonutrition.com), which has 11 grams of protein. One choice he made after he was 21 was to get a ‘Medical Marijuana card. He smokes pot, he says, to relieve his anxiety. He has discussed this with his doctor who didn’t ban its use. I don’t know if it is helpful or harmful. We old-timer parents HATE this and HATE the smell in our house but can do little about it. We need some up and coming nutrition/metabolic graduate student to do research on Marijuana intake and Effects on the LCHAD patient. But I guess that’s not going to happen with such a rare disease.
Adam’s present hospitalization is the same ole, same ole. He had severe stomach pains that led to vomiting continuously, dehydration, and an inability to eat anything by mouth. He’s put on several pain meds once in the hospital for the pain. He had a CT Scan that didn’t show any abnormalities in his stomach. We’re beginning to wonder if he’s developed a food allergy. He will probably need further testing to see if this is the case. He will probably go home tomorrow.