What resources are there on Aicardi-Goutières syndrome?


NOTES FROM THE UNITED LEUKODYSTROPHY CONFERENCE, JULY 20-23, 2000 Dekalb, Illinois, USA

 

 

 
  • 7. DHA (docosahexaenoic acid)
  • 8. FUNCTIONAL FOODS
  • 9. FLUID INTAKE
  • 10. FUNDOPLICATION-IS IT SAFE?
  • 11. BILE ACID STUDIES
  • 12. RESEARCH IDEAS AND FUNDS

  • 1. NEW CASES

    One doctor thought that a colleague of his at the University of Michigan had an Aicardi-Goutieres patient there about 8 years ago. Another doctor thought that there was a family in New Jersey that had been diagnosed in the past year, but she said that the family was in denial and probably would not want to communicate with other families. I will follow up with both of these doctors and try to get more information.

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    2. MYELIN CONFERENCES

    One doctor told me that there is a myelin conference held every year in Traverse City, Michigan (where I live) and that I should attend it. Other families should network with their doctors and find out if there are any local conferences that you could attend that might be helpful. Information on medical conferences is often available to only doctors. Families might want to attend these conferences and learn more about these diseases and try to network with the professionals. Just be aware that these conferences might be very technical and difficult for a non-professional to understand. They still could be very valuable in helping you understand the Aicardi-Goutieres syndrome and in getting professionals interested in researching it.

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    3. WRITE TO ALL A-G AUTHORS

    A suggestion was made that the IAGSA should write to every doctor who has published an article regarding Aicardi-Goutieres syndrome and ask him or her to contact their patients. There are many families that are described in the research who are not aware of the new association or the web site. Many families do not have access to the Internet. Sharing and networking is important in helping families cope with this disease. We should make every effort to contact families through their doctors.

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    4. CALCIFICATIONS AND DIDRONEL

    In the United States, a study is being done on giving the drug Didronel to patients who have calcifications and seizures. The theory is that the drug will coat the calcifications and lessen the toxicity of the calcium, and thus reduce seizures. This drug has been used safely for years to treat bone diseases, osteoporosis, and calcifications in the lungs and other body organs. In experimental trials, it has reduced tremors in Fahr's disease and Parkinson's disease. None of the doctors at the conference had any opinion on trying the drug on calcifications in the brain. Using the drug for brain calcifications is a very new theory that nobody has tried before. Several doctors suggested entering the study to try it.

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    5. STEM CELL TRANSPLANTS

    The research on stem cell transplants looked very promising in possibly providing a cure for many brain diseases. A stem cell is an immature cell that can mature and become many different kinds of cells. All persons have stem cells in their brain, but there are many more stem cells in a growing fetus. This brings ethical issues, in that the origin of stem cells for transplants come from a healthy fetus that has been aborted. For persons who think that abortion is wrong, this presents an ethical dilemma. Studies done on mice have shown that stem cells transplanted into a damaged brain will migrate to where they are needed and will mature into the proper kind of cell in the brain. "Twitcher" mice, which have been bred to have a problem with constant twitching, have been given stem cell transplants and they develop normally, without twitching. Stem cells can re-myelinate nerve cells that have lost their myelin due to leukodystrophy diseases. Stem cells can be genetically engineered to produce higher amounts of missing enzymes and thus secrete the enzyme to surrounding cells and further improve brain function. It has also been found that stem cells can usually survive a toxic environment caused by abnormal metabolic products that accumulate in metabolic diseases. Research on humans will probably begin within two years.

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    6. REPORT ADVERSE DRUG EFFECTS

    If your child takes a drug or uses a medical device and they have an adverse reaction to it, then this should be reported to the governmental authority that regulates drugs and medical devices. Most agencies allow reporting by mail or by using a web site. In the United States, contact the Food and Drug Administration at www.fda.gov.

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    7. DHA

    A substance called DHA (docosahexaenoic acid) is in breast milk and is necessary for proper brain growth. It is not found in formulas. At least three different leukodystrophies have been treated with DHA and have had significant brain growth. DHA is essential in all cellular membranes and in the function of brain synapses. Please note that DHA is not DHEA, which is a popular food supplement. One child with Aicardi-Goutieres syndrome has been tested and found to have normal DHA blood levels, so it is not clear whether giving DHA supplements would cause any improvement.

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    8. FUNCTIONAL FOODS

    For persons interested in alternative medicine, consider trying functional foods. Functional foods are foods that naturally contain substances that some persons think help maintain a healthy body and fight disease. Most functional foods are raw fruits and vegetables. Raw foods are considered to be "live" foods in that they contain many enzymes that the body can use. Cooking destroys these enzymes, and thus cooked foods are less healthy for the body. Functional foods include sprouts, broccoli, garlic, onions, celery, carrots, blueberries, and many other raw fruits and vegetables. The difficulty in trying to give functional foods to children with Aicardi-Goutieres syndrome is that many of these children cannot easily chew and swallow raw foods. A very good food processor or blender might be able to puree these foods enough so that an Aicardi-Goutieres child might be able to eat them.

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    9. FLUID INTAKE

    A dietitian said that it is very important for a child to get enough fluids. Every year a child should be seen by a dietitian and their fluid and calorie intake should be calculated. If a child cannot easily take in enough fluids, then a g-tube should be considered. Using a g-tube does not mean giving up on orally feeding your child. Many children are fed fluids or formulas at night by using a pump to give the fluids through a g-tube, and the child is fed orally during the day. This can improve the health of a child and also make eating more pleasurable. By feeding your child through a g-tube at night, you can ensure that your child is getting proper nutrition and fluids without giving up the pleasure of eating orally during the day. Some children who have difficulty eating expend more calories in trying to eat orally that they get out of the food that they eat. The dietitian said that all leukodystrophy children should be in the normal weight range on the weight charts. If a child is below normal weight, then, for the sake of his health, he should have a g-tube.

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    10. FUNDOPLICATION-IS IT SAFE ?

    The doctors stated that if a child vomits often or gets inspiration pneumonia, the child would be much healthier if he or she had a surgery called a Nissan fundoplication. A fundoplication involves tugging the esophagus down, and then wrapping the top part of the stomach around the esophagus and sewing a few stitches to keep the stomach there. This tightens the opening from the esophagus to the stomach and stops stomach contents from refluxing up the esophagus. A question was asked about the safety of this procedure, since this procedure is considered a mortality risk in some countries. The doctors said that there are few complications from this surgery, and that it is very safe. The mortality usually arises from doing the surgery on children who are severely underweight and malnourished, and they cannot tolerate the stress of anesthesia. The doctors said that if a child is severely malnourished, he should be fed using a g-tube or an n-g tube for several months first to get the child healthier before doing the fundoplication. The only other complication for a fundoplication is to feed the child so much that he gains weight and grows too fast. A malnourished child will often gain a lot of weight and height once he is being tube-fed. Occasionally, this rapid growth has caused the fundoplicated stomach to be pulled up into the chest cavity and form a hiatal hernia. The doctors recommended that a malnourished child who gets a g-tube and fundoplication be allowed to gain no more than 3 pounds per month right after the surgery.

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    11. BILE ACID STUDIES

    At least two children with Aicardi-Goutieres syndrome have shown abnormal bile acids in their urine. The liver excretes bile acids. If these bile acids can be identified, they might help define the metabolic cause of this syndrome. The world expert in studying bile acids is Dr. Ronald Wanders in the Netherlands.

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    12. RESEARCH IDEAS AND FUNDS

    Two doctors, Dr. Marjo vanderKnaap of the Netherlands and Dr. Powers in the United States, are very interested in studying the leukodystrophies that cause calcifications. They are now working on a protocol on studying these diseases. Dr. vanderKnaap has recently been given a large grant of money to study leukodystrophies, and so she might be a source of funds for research.

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