AGS Parental Meeting 2008 in Washington !





Aicardi-Goutieres Syndrome.   This is an outline of what parents and doctors discussed during the AGS meeting.  This outline is meant to be a continuously improving document.  If any parent or doctor wants to add more information that they think will help other parents, please contact Donna Miller.

Initial notes: Aicardi Syndrome and Aicardi-Goutieres Syndrome are two completely different syndromes.  The only things that they have in common are that they both are neurological disorders, and they are named after the same doctor.

How do I pronounce it?   It is pronounced AYE-CAR-DEE   GOO-TEE-AIR.    There is no “s” sound at the end of Goutieres.  The initials are AGS, and are generally pronounced A-G-S, not “Ags.”

Where do I get articles on AGS?  Go to to find articles.

Part 1:  I have an AGS diagnosis for my child.  What do I do to cope?  How can I get help?

A.      Coping:  You are allowed to have emotions.  Your emotions will be up and down throughout your child’s life.   Go ahead and cry.  You will watch as other children develop milestones that your child cannot do.  You may cry or grieve for your dreams that will not be realized.  But there are some philosophies to live by that can help. 

1.        Accept the fact that your child is the way she or he is, and love him or her just as they are.   You cannot change their genetics.  But you can change your thoughts.  A very helpful saying called the Serenity Prayer can be very useful when you have a bad day: 

“God grant me the serenity

to accept the things I cannot change;

courage to change the things I can;

and wisdom to know the difference.”

2.        Stay positive, and keep positive persons around you.   If there are negative persons in your life, then just let them go.   Do not be angry with them or hold grudges against them, because the bitterness will only hurt you.  Forgive them, but do not let them get you down.


3.        Be aware that people do not know what to say or do with your child, and so friends and family might back away from you when you need them most.  Do not be angry with them.  Instead, forgive them, and teach them how they can interact with you and your child.  Often, it is young kids that are best with interacting with AGS children.


4.        Take time to laugh.  Make jokes.  Have water fights.  Humor can relieve tension and sadness.


5.        Make sure to get away for a few hours every day and a few days every month.  Recharge your batteries.  You might not want to leave your AGS child with anybody else, but you will eventually realize that you can take better care of your child if you are not burned out.  You will eventually realize that other persons will not take care of your child exactly the same as you do, but other persons can keep your child safe, clean, and healthy enough so you can take a break.


6.        Love your child as much as you can, every day, because nobody knows how long he or she will be here on this earth.  AGS children have lived into their 30s, but have also died under age 1.


7.        Look for the little things in your child that can be big celebrations.  The first smile is the most fantastic thing; some children may take years to learn how to smile.


8.        At the Washington, D.C. Clinic, these are some of the kinds of things that parents shared when asked, “What is the greatest gift that this child has brought to your life?”:  “Compassion.” “  Love so deep and pure.” “I have learned to slow down, get off the fast track.” “  I appreciate the small things.” “  I have learned to take one day at a time.” “I have learned that it is your kid, and you just have to do it, every day.” “ I stop complaining about the little things.”  “Each smile that they give is huge.”


9.        Make sure that you get enough sleep, good meals, and exercise.  When your body gets run down, you may get sick and not be able to help your child.


10.     It is okay to take medications for depression.  Meds can help a parent cope.


B.  How do I get help?  There are lots of governmental and private agencies that can help you.  Your child should be enrolled in school programs as soon as they are diagnosed, even at birth.   The following parts discuss how to get help:


B1. Government agencies/ programs

a.        There are federal, state, and local programs.  All of them have their own offices, workers, rules, and applications.  Learn about each of them.


b.       Ask local social services and mental health services about waivers.  Example: Katie Beckett waiver.  A waiver will pay for nurses or aides to come to your home to help your child.


c.        Know your caseworker and his/her phone number for every agency.  Post it on your refrigerator.


d.       SSI in some states will automatically provide Medicaid.


e.        Medicaid will sometimes pay for part of a private insurance premium, plus all deductibles and copays.


f.         All states have Children’s Special Health Care Services for special needs only.  It will ONLY cover specialists, ONLY related to a specific disability.


g.       If an agency turns you down, ALWAYS appeal.  Most appeals are approved.


h.       SSI almost always denies the first application.  Unless you truly make too much money, always appeal.


i.         SSI goes on MONTHLY income.   If you have some months with lower income, you can get SSI and Medicaid for those months.  Note that when your income is too high, the SSI will be cancelled, but Medicaid will continue for up to 12 months more, even when your income is too high.  So, if you can structure your income to be high sometimes and low sometimes, you can keep Medicaid yet make more money.   Note that SSI treats wages, self-employed income, and unearned income (unemployment) all differently.  Find out the rules and follow them.


j.         If you need more help, ask for more.  The squeaky wheel gets the grease.


k.        Find out which local or state agencies help persons with developmental disabilities.  It might be a social services agency.  It might be a mental health agency.  It might have another name.  Ask them for help.  Also, ask for any paper work and any rules/regulations regarding programs.  They might offer you only two hours a day of help, but the program might allow 10 hours per day.


l.         Keep records.  Have a filing cabinet for your child’s medical and agency records.


m.      Should you allow agencies to send help into your home?   Some families do and some families do not.  Consider the following:

·         Pros:  You can do more for your child with more hands available.  You can go shop, work, sleep, and get chores done while help is there.  You meet nice persons and make friends.  It relieves stress.  When you get sick or need to be away, there will be someone to help care for your child.

·         Cons:  You lose all privacy. The workers will know everything about you.  Some agencies are not good. Good workers are difficult to find.  Pay is low.  There are nursing and nurses aide shortages.  People will quit or not appear for work.  Theft is possible. 

B2. School Issues

a.        Which school—inclusion or special ed room?  Inclusion has been tried for AGS kids.  The more severe children have not fared well in inclusion because it is very difficult to do it right, and most schools do not do it right.  Regular schools may not have the capability to serve high medical needs.


b.        If a child is cognitive, then make sure that they have academic instruction if they are in a special ed room.  Sometimes academics are not taught sufficiently in classrooms for “severe” students.


c.        If your child is cognitive, ask them to choose inclusion or a center-based program.  They might have friends and want to stay in a regular school.  If so, then that is the best placement. However, most kids in inclusion tend to be very isolated and lonely because they are not like anyone else.  A one-on-one aide often comes between them and any interaction with other children. They might eventually decide that center based programs are better because they make more friends and have more social activities there that are geared toward their needs.


d.       Good IEP goals—are measurable, achievable, and should list possible methods of teaching the goals.  If parents are interested in submitting their child’s goals, we can post some example goals here.


e.        ALL IEPs should have a written stretching/range of motion program and positioning programs.


f.         Transportation—should be air-conditioned, curb to curb


g.       The school must give you training in how to educate your child—including paying for conferences


h.       Augmentative communication methods and devices—many AGS kids who are nonverbal can communicate with eye blinking or eye gaze or pictures.


i.         Ask for monthly meetings with teacher, OT, PT, Speech, Visual, other specialists, and principal.


B3.  What do I need to do to my home?

a.        Your home may need a ramp, widened doors, or other wheelchair modifications.


b.       You may need a van with a lift or some other modified vehicle that can transport a wheelchair.


c.        If you are remodeling a bathroom and have enough room, it is suggested that a roll in shower at least 5 feed wide, a raised bathtub, and a 6-foot changing table be built in.  Raise the bathtub on a platform so it is waist high and easier to get the child in and out without hurting your back.  If you build a raised tub, you may want a lift in the ceiling, or have slots built in below the tub that can accommodate a portable lift such as a Hoyer.


d.        As your child gets bigger, you will need to have mechanical help to lift them.   You can get a portable lift or a lift in the ceiling. Generally, 80 pounds is considered the limit when a lift is needed.  An electrical lift is much easier to use than a hand-cranked lift.  A track in the ceiling is very easy to use, but is very expensive and is limited to only where the track is located.  A portable lift can go more places, but it can be big and cumbersome.  Before you buy a system, try out several systems if possible.


e.        Emphasize proper lifting techniques from the time your child is an infant.  Bad habits developed when the child is small can cause injuries later.  ALWAYS keep your back vertical to the floor when lifting.  ALWAYS bend your knees, not your waist. If you cannot bend your knees, then put one or both knees on the floor instead of bending at your waist.  Do not twist your body when lifting or carrying.  Try to keep your child as close to your chest as possible, so he or she is at your center of gravity.  One way of picking up a child to get them closest to you is to put one arm under the shoulders, and then put the other arm between the legs and onto the buttocks.  Then curl the child to you so you are chest to chest.  When carrying the child like this, watch out for their head and their feet so they do not hit objects.  When you are laying a child on a floor mat, do not bend your waist.  Instead, put one knee down on the floor and gently let the child slide down to the mat while you keep your back vertical.  Proper lifting techniques can save your back from injury if you lift properly every single time.


f.         Obtaining equipment helps with positioning of your child.  Note that it can take years to accumulate items, and they can be expensive.  Here is a list of things that families have found useful: wheelchair, lift, floor mat, raised mat, lots of pillows, rolls, wedges, swings, bolsters, crawl board, giant balls, giant “peanuts”, corner chair, Rifton advancement chair, side layer, massage table head rests for prone positioning, stuffed animals, foam blocks, stroller or baby jogger, shower chair, hospital crib beds, walkers or gait trainers.


g.       If a child is too cold during a bath, then infrared lamps in the bathroom can help.  One family switched from forced-air heating to in-floor radiant heating to keep their child warm while on the floor mat.


h.       Dressing:  It might be difficult to put on shirts if the child has too much rigidity.  You can put a shirt on easier two ways: 1.  Use a loose, stretchy shirt.  Lay it on the child with the front of the shirt against the belly, and the waist of the shirt towards the head.  Insert the child’s arms through the body of the shirt and then up through the sleeves.  Work the shirt up the arms as far as you can, then stretch the shirt up over the head.  Roll the child from side to side, working the back of the shirt down until it is in place.   2.  Use a loose, stretchy shirt.  Put the shirt on over the head.  Use the primitive reflex called the asymmetric tonic neck reflex to help bend each arm so you can get the sleeves on.  This reflex causes the right arm to bend if you turn the head to the left, and the left arm to bend if you turn the head to the right.  Therefore, you can get each arm to bend if you turn the head to the opposite side of the arm that you want bent.  If you need to open up the hand for any reason, you can also use a primitive reflex to open the hand by bending the wrist down, and close the hand by bending the wrist up.


i.         Compression stockings: Some children wear compression stockings to help improve circulation in the feet.  To put on a compression stocking, it helps to keep track of where the heel is located.  First, pull the stocking over your hand with the heel on the back of your wrist.  Then invert the shin part of the sock back over your hand, up to but not including the heel and foot.  Gently take the sock off your hand. Insert your fingers on each side of the foot, and stretch the sides of the foot out.  Slide the sock on to the child’s foot until the heel is in place.  Then pull the shin part of the sock up over the foot and up the shin until it is smooth and tight.


Part 2.  What are the medical issues with AGS?

Notes:  Not every child will have every symptom.  Many of these problems start to happen as the child gets older.  As a child gets bigger and is unable to move as much, more physical problems begin to occur.   If a child experiences a trigger that causes regression, more physical problems may occur.

There are many medications and supplements listed here.  Some are prescription, some are over the counter, and some are herbal or alternative.  Medications available by prescription will me marked with a star *.   This list is intended to be an all-encompassing list that all families can share what helps their child.  This is available for other families to consider when they experience similar issues.  Please be aware that when giving any medication to a person with a metabolic problem, nobody knows how that person’s  particular metabolism will respond.  Some of these drugs have been almost miraculous for some AGS children, while other children do not respond at all;  and some drugs have been very detrimental to some AGS children, while other children did not have any negative affects.  Be cautious, and make informed choices when trying a new treatment for your child.


a.        What is a syndrome?  A syndrome is a medical condition in which there can be a long list of possible symptoms, of which a patient may have only a few of the symptoms or have most all of the symptoms.  The severity of a syndrome can vary widely, from mild to severe.   Even members of the same family can have differing severity.    AGS cases can vary from very severe with a patient unable to move, sit up, eat, talk, or respond, all the way to a few cases that have normal cognitive ability and can talk, walk, and do academics.


b.       What are major AGS symptoms, found in almost all patients?


1.        Calcifications in the brain on CT scan, particularly in the basal ganglia area. . An MRI will not show this.


2.        High alpha-interferon in spinal fluid.  Interferon is an immune protein produced by the body to fight viruses and toxins.  In AGS, it is thought that the body produces alpha-interferon in reaction to excess DNA and RNA components that build up during cell division.  The genes for AGS found so far lead to a lack of either a DNAse enzyme or RNAse enzyme, which are enzymes that help chop up DNA and RNA that is not needed.


3.        Brain white matter loss in MRI—demyelination.  This puts AGS into a category of diseases called leukodystrophies.


4.        Pleocytosis (too many white blood cells) in spinal fluid.  This is am immune reaction likely due to excess DNA and RNA in the brain.


c.        What are lesser AGS symptoms, found in only some patients?


1.        Eye jerking/ cortical blindness


2.        Irritability, including screaming car rides and startling to sounds


3.        Feeding difficulties/swallowing problems


4.        Chilblains on extremities and pressure points. Chilblains are sores that are hard to heal.


5.        Reflux/vomiting


6.        Elevated liver enzymes, especially between ages 1-3.


7.        Auto-immune problems with individual organs  (glaucoma, diabetes, thymus, tonsils, kidneys)


8.        Sinus problems


9.        Sleep apnea, asthma, obstructed breathing


10.     Rashes, hives, and histamine problems.


11.     Thrombocytopenia—low platelet count, bruising and bleeding.


d.       Systems review:  symptoms and treatments

1.        Neurological: brain, Symptoms and treatments:

·         Inflammation, high levels of alpha-interferon and white blood cell count in spinal fluid — treat with steroids*, anti-inflammatory meds and foods

·         Brain atrophy, enlarged ventricles and sulci,  white matter loss— treat with Carnitine*, omega-3, neuropathy supplements

·          Calcifications— treat with Didronel*.  This is experimental.

·         Seizures—treat with seizure meds such as Klonapin*, Tegretol*, Dilantin*, and Kepra*.

·         Irritability—treat with sedating/relaxing and/or pain drugs such as neurotin/gabapentin*, Tylenol, Motrin*, Diazapam/valium*, baclofen*, etc. Also, a blindfold can sometimes calm a jittery child.  Alternative healing touch such as Reiki, cranial sacral therapy, quantum touch, and others can calm the nervous system.

·         Fevers—AGS kids can show repeated fever patterns, especially in their first year of life.  Treat with Tylenol and Motrin*. 

·         Temperature control—some AGS kids lose temperature control of their body if the hypothalamus of the brain is affected.  Treatment:  take temperature several times daily and adjust circumstances to raise or lower their temperature.  Use air conditioning, heating pads, blankets, and cold packs as needed.   Know your child’s baseline temperature.  It might not be 98.6.   Take their temperature several times a day for a week, and you will be able to determine their baseline temperature.  Then you will know what to consider a fever by relating to how much their temperature is higher than this baseline. 

·         Neurological storming—happens when the brain stem is stressed in some AGS patients, particularly in those children with the most severe brain damage.  This can happen from sickness, a mucous plug of the lungs, overheating, or stress.  The pulse and respiration rate will go very high and the autonomic system will be hyper.  It may be mistaken for a seizure.   Treat the storming by treating the underlying cause.  Severe storming may need emergency room treatment.


2.        Neurological—senses:

a.        Visual:

·         Eye wandering, eye jerking, lazy eye— Treat lazy eye with patches.   Eyes jerking and wandering are indicative of cortical blindness. Cortical blindness is blindness caused by the brain not being able to interpret what the eye sees, even though the eyes themselves are physically normal.  Cortical blindness can vary from day to day and hour to hour on its severity, depending upon how the brain is functioning.  In general, when the eyes are jerking a lot, it means that the brain is not seeing anything right at that moment. Even AGS children who seem to see very well can have some aspects of cortical blindness, in that they might see things better in the periphery, and they might look away from or avoid looking at an object if their brain is overwhelmed at that time.  The best treatment for cortical blindness is to use colored flashlights and lit toys to stimulate the cortical part of the brain.  Eye muscle surgery has been tried for jerking or uneven muscles, but it usually does not work well if it is caused by a cortical problem.  Try glasses first before considering eye muscle surgery.  Some AGS children have stopped eye jerking after they have been fitted with glasses.

·         Pale optical nerve—no treatment possible

·         Glaucoma—Treat with prescription eye drops* or surgery

·         Nearsightedness, farsightedness, astigmatism—Provide glasses to correct.  Glasses stay on better using headband attached to cut-off earpieces.


b.        Auditory:

·         AGS kids tend to have hypersensitive hearing, and startle often—Treatment: get the child used to loud noises by having regular auditory stimulation. 

·         Consider auditory training, such as is given to autistic children.


c.        Proprioceptive (where you are in space, as measured by nerves in joints) :

·         AGS kids do not move, and get little proprioceptive stimulation—Proprioceptive treatments: Wilbarger brushing and joint compression.  Massage.  Range of Motion.


d.       Taste and smell:

·         AGS kids can taste and smell—treatments: try aromatherapy for smell and have tasting sessions to stimulate taste, especially if child is only tube-fed.   It is important to do oral stimulation daily in a tube-fed child, or else they could develop very hypersensitive gagging problems.


e.        Tactile/skin/heat/cold/pressure/touch:

·         AGS kids can have hypersensitive tactile responses due to lack of input.  Treatments include a sensory diet (touch the skin with different textures and heat and cold), massage, and doing Wilbarger brushing and joint compression.


f.         Vestibular/balance:

·         AGS kids with poor head and trunk control do not develop balance—treatments include.  Ball therapy on a giant ball and swing therapy.  Screaming during car rides may be a balance or an immaturity issue.  Most kids grow out of this by age 3 or so when they mature, or when they are given seizure or sedating drugs.


3.        Digestive/feeding: We are very grateful for dietician Hong Brereton, who gave a presentation on nutrition needs in AGS.   She recommends that a dietician be seen every year to evaluate an AGS child to see if they are getting enough fluids, fat, protein, salt, calories, minerals and vitamins. 

a.        Eating problems:

·         Difficulty swallowing choking/gagging—Have a swallow study/ video fluoroscopy done to check swallowing.  (It should be representative of a real meal.)  Extensive feeding therapy can help—this takes visits to an occupational therapist or speech therapist.  Any AGS child eating orally should have a yearly swallow study. 

·          Inability to eat enough—get a feeding tube

·         Vomiting—may be from excess gas causing nausea, a weak stomach sphincter, or hypersensitive mouth.  Treatments:  simethicone for gas, fundoplication surgery for stomach sphincter.  Be sure to vent excess gas often if the child has a g-tube.

·         Hypersensitivity of the mouth –treated by extensive oral stimulation therapy by an occupational therapist or speech therapist.


b.       When should my child get a g-tube?

·         Is your child in the normal height/weight range on growth charts?  Any child who “falls off” the charts should get a g-tube.

·         Can your child drink enough fluids every day? See the chart below.

·         Can you child swallow medicines?

·         Can your child eat when he/she is sick or has had surgery?

·         A “no” answer to any of the above questions should lead to getting a g-tube.

·         Note:  Your child can still eat orally even with a g-tube.  Use oral eating for pleasure and use the g-tube for fluids and medications and when the child is sick.

·         If is very important that your child gets enough fluids every day.  Use the following chart to get a rough idea of fluids needed.  Add up all of the water that the child gets every day and see if they are getting enough.  Note:  formulas are only 85-92% water.  Look on the label to see how much water to count for each ounce of formula.  Note:  One ounce is equal to 30 ml. Note: this is a rough estimate.  Every child should be evaluated yearly by a dietician to calculate calories, protein, salt, water, vitamins, and minerals.

Weight in pounds

Milliliters of water needed daily



















The formula for water is 100 ml/kg/day for the first 10 kg, plus 50 ml/kg/day for the next 10 kilograms, plus 20 ml/kg/day for all weight over 20 kg.

c.        Reflux: Sudden loud screaming—If your child suddenly screams and a dose of antacid stops the screaming, then he/she has reflux.  If antacid does not stop the screaming, then the cause is not reflux.   Reflux treatments:

1.        Meds:  antacids such Mylanta and Maalox, acid blockers such as Zantac, Prevacid*, Priolosec, etc., digestive enzymes supplements such as Solaray Super Papayaplex, simethicone for gas, acidophilus supplements for good gut bacteria.


2.        Treat constipation.  See below.


3.        Positioning:  keep the child either upright as close to 90 degrees as possible, or lay them on their belly or right side.  Lying on the back is the worst position for reflux.  Lying prone (on the belly) is the best position for reflux because the stomach empties the best while prone.


4.        Feeding:  feed thickened foods, solid foods, avoid acidic foods, and feed small meals more often.  Try continuous feeding in a tube-fed child.


5.        Excessive and continuous swallowing or seeing food come up to the back of the throat—treat with fundoplication surgery, thickened foods, mouth desensitization.


d.       Constipation: Bowel movements hard or formed or straining or crying during a b.m. 

·         Long-term constipation can cause intussuseption (where the intestine pushes one part of itself into another part) and even lead to a colostomy. 

·         Constipation worsens reflux and can lead to pneumonia. 

·         An AGS child should have a bowel movement every day or even twice daily. 

·         Treatments:

1.        Be sure your child gets enough fluids.


2.        Induce a b.m. every day with a glycerin suppository or glycerin applicator.  Use an enema if constipation is severe.  You can buy plastic glycerin applicators, wash and sanitize them after each use, and refill them with liquid glycerin to save money.


3.        Medications:  some antacids will loosen bowels.  Reglan* can help: warning, this med causes neurological side effects in some kids.  Miralax* can help, but can cause bloating and can be difficult to regulate the dose.  Fiber additives can help (Metamucil).


4.        Foods that help: dark beer malt in liquid form (1-2 Tablespoons once or twice daily); prune juice; BAP: equal parts of Bran flakes, Applesauce and Prune juice.  Fruits and veggies with lots of fiber.


e.        Problems with g-tubes:

·         Some kids grow too much scar tissue/granulation tissue around the g-tube site.  Hydrasorb* dressings can heal a sore tube site.  2 x 2 IV sponges can be used as dressings also.


f.         Mouth problems:

·         Biting of lips—Putting a Band-Aid vertically just under the lower lip and pulling it down while you stick it on under the chin can help biting of the lower lip.

·         Grinding teeth— consider a myomunchie or relaxing meds.  Difficult to treat.

·         Overgrown gums, baby teeth do not come out, cavities--See a dentist regularly for oral care and to have problem teeth pulled. Some seizure meds can cause overgrowth of the gums; there is nothing you can do about this except have good dental care.  Most AGS kids can have dental care in an office while being wrapped in a papoose board to keep them still; some kids have to have general anesthesia to do dental care.

·         Mouth breathing—keep the mouth clean and hydrated—items used for hydration include over-the counter gels.  Crisco shortening works very well to moisturize lips and mouths, and it is very cheap.  Mouth swabs called toothettes can be used to keep the mouth clean, or wear a glove and use a wet washcloth to clean the mouth. 

·         When brushing teeth, use as little toothpaste as possible because swallowing large amounts of toothpaste is toxic.  A Collis Curve toothbrush can brush all three side of a tooth at one time.


g.       Liver problems: Some AGS kids have enlarged livers or have high liver enzymes, which indicates some liver inflammation.   Liver enzymes tend to peak between ages 1 and 3.  There may be no outward symptoms of this; only a blood test will show high enzymes.  An AGS child should be checked 2 to 4 times per year for liver enzymes.  If enzymes are elevated, then Tylenol should NOT be given to the AGS child.


h.       Drooling:  Some kids drool.  Robinol*or a scopolamine* patch can help with drooling.


4.        Musculoskeletal/Orthopedic:

a.        Rigidity:

·         Caused by damage in the basal ganglia of the brain.

·         Rigidity vs. spasticity: Rigidity leads to extreme stiffness of the limbs, and the stiffness is mostly even in opposing sets of muscles.  In contrast, spasticity has one set of muscles overpower the opposite set of muscles across the joint. In most AGS kids, their rigidity is often misdiagnosed as spasticity.    Tone can change from rigidity to spasticity over time.

·         Drugs:  Parkinson’s drugs such as carbidopa* have helped somewhat.  Relaxing drugs such as baclofen* and Diazapam* can help, but will also sedate the child and “zone them out.”   It takes much higher doses of relaxing drugs to treat rigidity than it takes to treat spasticity.   Too high a dose of relaxing drugs can cause swallowing and breathing problems, so do not go too high in dosage.  What is considered a “normal” dose in a normal person may be too high for an AGS child, so be very careful with sedating drugs.

·         A baclofen* pump can be considered.


b.       Range-of-motion (ROM) programs:

·         Should be done several times daily on all joints of the body. 

·         Your school physical therapist and occupational therapist can set up an individual program. 

·         Joint measurements should be taken at least quarterly or preferably monthly. 

·         It is important to do each stretch for at least 60 seconds because AGS kids often will not release their rigidity until 15-30 seconds into the stretch.


c.        Hip dislocation

·         Will happen in any child that does not walk. 

·         If the adductor muscles are released at a young age (before 18 months) and the child wears a hip brace every night until full growth occurs, he/she will probably not dislocate his or her hips. 

·         If the hips do dislocate, then extensive hip surgeries are needed.  If any child needs to be in a body cast after a surgery, contact Donna Miller to ask how to care for the cast.


d.       Weak bones:

·         Bones often are very thin and weak on x-rays.  However, there is no known history of this causing extensive fracture or other problems in AGS.


e.        Scoliosis: 

·         If there is any uneven muscle balance from one side of the body to the other side, an AGS kid will develop scoliosis.   For example, neurologically, some AGS kids will become windswept and always turn toward one side.  A hip dislocation often causes scoliosis because the child will shift away from pain. If one tight muscle group causes the scoliosis, for example, the left adductor is tighter than the right, then a quick surgery to release the contracture might reverse the scoliosis if it is done soon enough.

·         Kids with weak head and trunk control are most apt to get scoliosis. 

·         Statistics have shown that body braces do not slow down scoliosis in severely neurologically impaired children. 

·         The only eventual option is back surgery if the scoliosis reaches the point of affecting heart and lung function.   However, back surgery for scoliosis is very risky and might not be appropriate in AGS children.  There would be a very high risk of pneumonia or need for a trach/vent after a scoliosis surgery.

·         Alternative treatments: chiropractic, cranial sacral, the book “Touch for Health” might help.


f.         Muscle contractures:

·         Muscle contractures can cause pain and deformity of a joint.

·         It is much better to aggressively address muscle contractures early than to wait until there are permanent changes. 

·         A daily stretching program of all joints in a must for AGS children.

·         It is possible to release adductors, hamstrings, and heel cords using only local anesthesia, and thus avoiding anesthesia stress on a child. 

·         It must be understood that the first release will cause scarring, and any subsequent re-releases needed as the child grows will have to be open surgeries and general anesthesia.  It would not be uncommon for second or even third re-releases to be needed as a child grows.  Sometimes having the child wear a brace at night on joints that have had releases can prevent this.  They would have to wear these braces until they have reached full growth and adulthood.   

·         Research has shown that a very good positioning program can do more to stretch muscles for longer periods of time than just a stretching program.  An AGS child that is not mobile should have a daily positioning program that puts them in prone, side lying, standing, kneeling, and all-fours positions if possible.  There is equipment that can position a child in all of these positions safely. Ask a physical therapist for help.


g.       Botox *(Botulinium toxin):

·         It is highly important to NEVER give Botox shots to an AGS child.  Multiple AGS children have had severe neurological regressions in reaction to Botox.   The regressions have been so severe that one child almost died.   There also have been some AGS children who have had Botox without serious side effects.  The child who almost died did not have reactions to the first two times he had Botox, but he did react the third time.   Therefore, there is no way to predict whether an AGS child will have a bad reaction or not.  Doctors and parents should carefully consider that they are giving a known neurotoxin to a child with a known neuroimmune problem, and nobody can predict the effect on a particular child to this neurotoxin.  News reports have stated that there have been over 30 deaths worldwide caused by Botox, and all of these deaths were in neurologically impaired children.  Use extreme caution if you are giving Botox to an AGS child.


5.       Pulmonary

a.        Lungs:

·         Asthma—can be treated with inhalers* or nebulizer* medications

·         Pneumonia—is common in AGS due to lack of movement and shallow breathing.  Treatments:  deep breathing exercises; read chapter in a book called  “What to do About your Brain Damaged Child” by Doman and Dellacotto, for breathing exercise for non-cognitive children.  Chest vest—is a machine that pulsates the chest to clear secretions.  It is very expensive and only approved for unstable patients with multiple pneumonias.   A respiratory therapist can teach chest percussion and postural drainage.


b.       Upper airway/throat/tonsils:

·         Tonsils often need removal in AGS kids.  Be aware that kids who get their tonsils out may not be able to eat for up to 10 days post-op, and may need a g-tube. 

·         Obstructed breathing: head bobbing and chest sinking are signs of soft tissue structures obstructing the upper airway.  Positioning, breathing treatments, antihistamines, nasal sprays help treat the obstruction.  A trach is the ultimate treatment.  Hayfever and ragweed allergies (worst August-October) can worsen obstructed breathing.

·         Suctioning:  AGS kids might not be able to swallow secretions and may need suctioning on an occasional to an everyday basis.


c.        Sinus:

·         As kids get older and lay down more, they often have chronic sinus infections and sinus drainage.   Antihistamines and sinus meds can help, but often stop working.  Postural drainage can help.  This is a chronic and difficult problem.  Severe infection may need Tobrymycin* inhalation antibiotics. Warning: Tobrymycin* can cause deafness.

·         Sinus massage can help drain the sinuses.  In this, an adult can use the sides of the thumbs to FIRMLY rub the forehead from the center outwards, then rub down the nasal bridge and across the cheekbones.  Then run rub the side of the head from the temples and on down the neck.  Do this 10 times in a row, several times a day, and the sinuses will drain.


d.       Sleep apnea:

·         Many AGS kids have both obstructive and/or central sleep apnea, or they can have arousal problems or late onset sleep problems.   All AGS kids should be tested for sleep apnea at least every two years.   A younger child without apnea may develop apnea as they get older, larger, and move less.

·         C-PAP (constant positive airway pressure) and Bi-PAP (Bi-level positive airway pressure) machines will treat apnea.  The Bi-PAP works better on AGS kids.  Full-face masks work better as compared to nasal masks.

·         A child with a full-face mask must also use a pulseox machine all night to monitor their status.  Vomiting into a full-face mask for someone who cannot remove it is a risk and can be fatal.

·         It is recommended that all AGS kids have access to a pulseox machine in order to monitor their health at any time.  Oxygen saturations and pulse rates can help determine sickness and regression episodes. 

·         Pain meds may help a child sleep better.  Trazadone* is a sleep med that does not depress breathing and is recommended for AGS kids who cannot get to sleep.  Neurotin/gabapentin* can help with pain that prevents sleep. Families have also tried chlorhydrate*, melatonin, Valium*, a weighted blanket, a temperpedic bed, and higher doses of Klonapin* at bedtime.


6.        Immune:

a.         Alpha-interferon is elevated in the first years of life, but eventually decreases with age.  A few AGS kids have kept high levels for long periods of time. Treatment:  high dose steroids* have been tried to reduce alpha-interferon, but were inconclusive in stopping disease progression.


b.       Chilblains—are immune related, see more info below in skin section.


c.        IgA or IgG deficiencies have been seen in some AGS kids. This could lead to more sickness.  All AGS kids should be tested for immune gammaglobulins.


d.       Chronic Histamine reactions/hives: many AGS kids have daily skin reactions where the toes, feet, hands, ears, and cheeks, and elsewhere can turn red, swell, look blotchy, or even sometimes have hives.  This can happen to cold temperatures, to allergen exposure, or for no reason at all.   Treatment:  take antihistamines, avoid histamine triggers, keep the child warm.


e.        Autoimmune attack on organs— the following organs have been known to have autoimmune attacks in some AGS kids: liver (enlarged liver, high liver enzymes), thymus (enlarged), kidneys (partial failure), eyes (glaucoma), pancreas (diabetes), tonsils (enlarged). Blood platelets (thrombocytopenia).


f.         Hayfever: some AGS kids get hayfever to dust, molds, pollens.  Treatment:  sinus sprays*, avoidance, antihistamines, Vitamin D.


g.       Allergies:

·         A true allergy is a histamine response to a substance.  It could range from red skin to hives to breathing problems to full anaphylaxis.  Sensitivity to a substance is an unwanted reaction to a substance but it does not include a histamine response.  A sensitivity reaction could be something such as an increase in blood pressure or neurological torticollis or upset stomach.

·         List of allergies in AGS children that cause hives or anaphylaxis: Red Dye #40, carpet, new vinyl, cold temperatures, sulfa* drugs, vincamycin*, and benzalkonium chloride (a preservative found in many gels, creams, nasal sprays, or eye drops).   One child has severe food allergies to most foods, including milk, rice, oats, and bran.

·         Allergy treatments: Avoid known allergens.  Meds:  antihistamines such as Claratin or Benadryl can help. Carry an Epipen* for anaphylaxis.

·         List of meds/foods that some AGS kids have been sensitive (but not allergic) to:  Reglan has caused torticollis in one child.  Some children have had belly aches and cried a lot from Carnitine.  Some AGS kids have been lactose intolerant.  Didronel can cause belly aches and crying.


h.       Regression episodes:

·         Dr. Crow asked the parents of they considered AGS to be a progressive disease, where a child will continuously decline.  All of the parents said no.  They agreed that their kids can be very stable and not decline for long periods of time.  However, certain triggers can cause very sudden regression episodes that may or may not lead to a permanent loss of abilities. 

·         These triggers cause the immune system to be revved up.  The increased immune response leads to higher brain inflammation and causes encephalitis and temporary or permanent brain damage. The encephalitis is not viral or bacterial encephalitis; instead, it is an autoimmune inflammatory process that causes further brain damage.  

·         Triggers include sickness, immunizations, Botox*, overheating, dehydration, anesthesia, exposure to allergens.  Parents agree that the most important trigger is heat.  Do not let your child get overheated.  During hot weather, the child should have access at all time to air conditioning, especially in cars or busses.  Protect a child from the hot sun—a nice sun umbrella that goes with a Radio Flyer wagon can be obtained at Toys R Us.

·         Treatment: The best treatment is to avoid triggers in the first place. . Steroids* given early enough during an episode might reduce or stop the inflammation.


i.         Immunizations—observe your child closely for 72 hours post-immunization.  If they have a fever, are irritable, are sleepy, or limp, they may be having a regression reaction to the immunization.   Not all AGS kids seem to react to immunizations.  Use caution and consult your doctor on whether or not to give immunizations.    Some AGS kids show no titers to the immunizations that they have had.  If the titers to an immunization are negative, that means that the child never made antibodies and has no immunity to that disease.  You may wish to have your child’s titers checked if he is given an immunization.  If he/she is not making antibodies to the shots, then it is not worth the risk of giving the immunizations.


j.         General anesthesia: Some children have had permanent regression from surgeries and general anesthesia.  Others have not.  Your child will probably need to have many surgeries over his or her lifetime. Anesthesia is a risk that has to be weighed against the benefit of the surgery.  If possible, combine multiple surgeries at one time.  Orthopedic muscle releases of the adductors, hamstrings, and heel cords can be done under local anesthesia.  It has been suggested by leukodystrophy experts that no gas anesthesia be used on leukodystrophy patients because they have worse outcomes with gas as compared to IV anesthesia.



7.        Skin:

a.        Chilblains:

·         Chilblains often start as a hive or histamine reaction, which then proceeds to blister or a sore.

·         Are caused by an immune response to poor circulation.  They tend to happen more often in AGS children who are cold and who have many histamine problems, and are most common in the wintertime.

·         The have been observed on extremities (hands, toes, and ears) and on pressure spots anywhere on the body.

·          Treatments:  keep the extremities warm.  Boot warmers from can help keep feet warm.  Long term antihistamines can stop the histamine reactions, but will not cure the chilblains once they have occurred.  Compression stockings help circulation.  Alternating pressure mattresses on a bed will help with pressure sore chilblains.  Pad braces where pressure spots occur.  If chilblains are infected, they need long term oral antibiotics to cure. Use skin dressings such as duoderm* on highly sensitive pressure spots.  Use ski warming chemical packs inside boots to keep them warm.  Fill pop bottles with warm (but not hot) water and put them inside boots.   Drugs such as aspirin and Plaquinel* have been tried as treatments.


b.       Keratosis—are tiny red pimple like skin spots or flat round spots found extensively on many AGS kids.  They are most often found on the chest, shoulders, and upper arms. Treatment:  treatment is not really necessary because the keratoses are not harmful.  Steroid creams will control them if you wish to treat them.


c.        Some families have reported clubbing of fingers or brown skin on fingers.


d.       Granulation tissue—is extensive scarring that some kids have to surgeries or g-tubes.  Treatment:  hydrasorb* dressing reduces scarring.


e.        Dissolving stitches: Some kids have overreactions to dissolving stitches after surgery.  If your child overreacts, then have surgeons use regular stitches if possible.


f.         Dry skin: use Crisco shortening or walnut oil on the skin and lips for moisturizing.


8.       Urinary/Kidney

·         The most common renal problem in AGS is urinary tract infections.  Prevention includes getting enough fluids daily, feeding cranberry juice, changing diapers more often, and keeping the urogenital area very clean.  At least one AGS child needed a permanent urinary catheter due to chronic bladder infections.  

·         One family has had problems with autoimmune lupus-like attack in the kidneys.

·         Several families have noticed extremely strange/very strong/ nauseatingly sweetish-smelling urine during times in which the child has had a reduction in calories for several days.  It had been theorized that it might be ketone metabolism due to burning of fat, but tests for ketones during these episodes have been negative.  Therefore, it is probably an unknown metabolic compound being made by the body when there is not enough food being eaten.  Be careful of events such as surgeries, vomiting, sickness, poor eating, or dietary changes that can lead to this metabolic problem.  Restoration of calories remedies the urine smell within a day or two.


9.       Cardiac/circulatory

·         Even though the mouse model for AGS that makes high alpha interferon tends to have cardiac failure, this has not been seen in AGS kids. 

·         Poor circulation in the extremities tends to cause positional cyanosis.  Treatment:  use compression socks.   Change positions often.

·         Thrombocytopenia (low blood platelet levels) sometimes happens in AGS, and needs extensive chemotherapy treatment if it happens. This is a very serious problem.  If your child has easy bruising or bleeding, have them checked immediately for this symptom.  The treatments for thrombocytopenia are very toxic and life threatening, but it can be fatal without treatment.


10.    Puberty/reproductive

·         Timing of puberty seems to depend upon nutrition status and weight.  AGS children of normal weight and height tend to have early or normal puberty.  Children who are underweight tend to have later puberty.

·         Puberty can cause major syndrome changes, such as the start of seizures in kids who have no seizures, or increase of seizures in kids who already have them. 

·         For females, the parents could consider treatments to stop or reduce menstrual cycles.

·         Height:  some AGS kids are very short.  It has been noted that one short child grew 6 inches in 6 months after he was given extra protein powder in his formula.  The standard diet requires 1 gram per kilogram per day of protein in the diet.  This is a minimum.  Some AGS children do better with higher amounts. 

·         Low calorie requirements/ pudgy body.   Some AGS kids have had very low calorie needs in that they gained too much weight on just 600-800 calories per day, and they had “pudgy” bodies.  These children were protein deficient and did much better with weight management when given extra protein.  They actually grew rapidly and the “pudginess” disappeared within months of getting the extra protein.

·         Some kids have tried growth hormone shots for short height.

·         A few AGS children have shown “under-endowment” of genitals.  It is not known if this will rectify with time or if this is a problem of the syndrome.


11.    Metabolic treatments

·         Some muscle biopsy testing in AGS kids shows secondary mitochondrial deficiencies.  It is theorized that AGS children may show mitochondrial problems because alpha-interferon is known to down regulate mitochondrial genes.  A treatment cocktail for mitochondrial disorders includes L-Carnitine*, Co Enzyme Q 10, vitamin B complex, and multivitamins. Sometimes other compounds are also added.   Some  AGS children have had great improvement when they have started L-Carnitine.  Other AGS children have had no improvement.  One family stopped it because it can cause a lot of gas and bellyaches when first started.  It can also make a person smell like fish.  If you start L-carnitine, then start it slowly, give it with meals, and back off if you get side effects.  The dose that most families have tried is 75 mg per kilogram per day.

·         Folinic acid, also known as leukovorin calcium*, has been shown in young AGS kids (under age 6) to treat abnormal levels of neopterins and biopterins.  Some children have improved dramatically on this medication.  Older children do not seem to improve on this drug.

·         A neuropathy supplement has helped some children. Try it at

e.        Carriers—are they affected?   Some who are carriers seem to have some symptoms of AGS.  The doctors in Europe have been doing a survey asking parents these questions.  If you want to participate in this survey, contact Dr. Crow.  Think of the following questions about your family:

·         Do any parents have any of the same symptoms as their children?

·         Are there autoimmune diseases in the parents or siblings? 

·         Are there autoimmune diseases in ancestors or relatives?

f.         Alternative treatments:  These are alternative therapies that parents have tried or have considered trying:

1.        Anti-Inflammatory foods and herbs: spice called turmeric/curcumin; green tea; resveratrol in grapes; leutolin in celery and green peppers; quercetin found in apples, onions, tea, and leafy vegetables; frankincense (Boswelllia serrata) herb; Cleaverse (Galium aparine) herb; Yarrow herb; pineapple.


2.        Supplements—Neuropathy supplements, blue-green algae, aloe, goldenseal, quercetin with bromelain capsules.


3.        Energy therapies—Reiki, cranial-sacral therapy, quantum touch.


4.        Therapies: Hippotherapy (horses), aquatic therapy, music therapy, brain music therapy, BART massage techniques.


5.        Other:  Infrared helmet,  hyperbaric oxygen, therasuit (ask a physical therapist)


6.        Experimental anti-inflammatory drugs  (none of these have been tried for AGS, some have major side effects or are very expensive or are only in clinical trials): thalidomide, Enbrel, Anakinra injections, Antegren, Zavesca, DNA vaccine BHF3009, Laquinimod, Ambien.

g.    Research:  Dr. Crow stated during this meeting that there is a tremendous amount of research happening with the TREX 1 gene, found in AGS1.  The research is centering on lupus, because there is an overlap between lupus and mechanisms making the inflammation in AGS.  There is a disease with a gene defect in TREX 1       called Familial Chilblain Lupus, which does cause lupus but not the brain damage seen in AGS.  He believes that there will be a treatment come from this research with the next few years.  He also thinks that any drug found to affect AGS1 and the TREX gene will also apply to AGS 2, 3, and 4 with the RNAse H2 gene, because they both probably lead to the same metabolic pathways. However, he also stated that older children with AGS already have severe damage, and treatments cannot reverse that damage.  A question was asked if the severity is related to the age of onset of AGS symptoms.  The answer is no.  There is a case of a 14-month old child that was normal but became very severe because the trigger that happened at age 14 months caused severe damage. . The severity of AGS is related to the severity of the insult caused by triggers, and not necessarily the timing of the triggers.   It is common to see variable expression in siblings who both have AGS.  The difference in severity could be caused by either different exposure to environmental triggers, or to the different affect that other genes might have on each AGS child. New treatments that come from research would be most helpful in very young, newly diagnosed children.    Dr. Crow, Dr. Vanderver, and others are very much researching targeted drugs that will aim at very exact metabolic pathways, so that there are fewer side effects that drugs given now that affect everything.   There are currently studies being done to examine AGS at the cellular level to see exactly what is happening in cell metabolism.  If you are interested in participating in this exciting research, contact Dr. Crow or Dr. Vanderver.  It only takes a blood sample.   In a response to a question about dealing with ER doctors who do not know about AGS, it was suggested that your primary doctor write up a letter for ER treatment, telling who to contact and what treatments might be needed in the ER.  Laminate it and carry it with the child at all time.

h. Occurrence:  Dr. Crow was asked how many cases of AGS exist in the world.  He answered that he was aware of about 300 families world wide who have inquired about testing for AGS.  It is likely that not all of these families will actually have AGS.  And there are some families that have not sought genetic testing, and so are not in this total.  There are also many families with multiple children.  Therefore, an exact total is unknown, but would probably be between 300 and 400 cases world wide.  Families with Aicardi-Goutieres syndrome have been diagnosed in the following countries:















New Zealand




United Arab Emirates

United States

And families with origins in Turkey, Bangladesh, Pakistan, India,  Portugal, Algeria, and Cree Indians of Canada have all had AGS cases.   Children of all races have been diagnosed.

h. Losing your child:

·         How does the syndrome progress?   Triggers can cause regression.  (See the section above on immune issues that describes triggers.) A child can be stable for long periods of time if he/she is not exposed to triggers.   Every child can handle triggers differently.  More mild cases of AGS can often handle more severe triggers with less damage than a more severely affected child.   It has been observed that triggers upon triggers can lead to a downward spiral that the child cannot recover from.  Families who have lost their child have stated that the last year of life was a constant struggle of sicknesses piling upon sicknesses, and the child just spiraled downward and eventually passed away.

·         How do most AGS children die?  They die of infection or from brain stem deterioration.  The most common fatal infection is pneumonia, often caused by aspiration.   Brain stem deterioration leads to a pattern of breathing called Cheyne-Stokes breathing, which is apnea alternating with fast/panting breathing.   When a child starts Cheyne-Stokes breathing, usually there are only a few weeks to live.  They have also died from thrombocytopenia.

·         How long do they live?  Children with AGS2 tend to live longer that those with AGS 1, 3, or 4.  However, all types vary considerably depending upon how severe the child is and their exposure to regression triggers.  Some mild cases have lived into their 30s.  Some have died under age one.

·         How do I plan for losing my child?  Parents should talk with a hospice counselor so they can deal with the grief of losing a child. 

·         Should I donate organs/brain after death?  Research can help advance treatments for new families.  If you choose to donate your child’s organs for research, there are many places to do so.  One is the Brain and Tissue Bank for Developmental Disorders, University of Maryland, 1-800-847-1539.  


a.  Books—“Touch for Health”

“What to do about your Brain-Injured Child?” Doman and Dellacotto.

b.  Magazines—“Exceptional Parent”

Newsletter:  Mothers United for Moral Support

c.   Web sites: (United Leukodystrophy Foundation) (education) (articles) (governmental agencies) (neuropathy supplement) (sharing your child’s life) (Make a Wish foundation)

d. find parental sharing groups in your area, such as “Mommy Network. “