How is Dysautonomia treated?

[Guest guest]

It is really important to not let children/adults with Dysautonomia stay out-side in the hot sun or in Winter be exposed to the cold without extra clothing as they cannot regulate their body temperature.

A gold standard for diagnosing ANS dysfunction (Dysautonomia) is the 'tilt table test'. The patient is placed is placed on a table horizontally and BP taken. It is then tilted to 60 degrees and BP taken again. If BP dramatically falls (sometimes patient even faints), they have ANS dysfunction. One can even approximate this by taking BP while sitting. Again if it dramatically falls, this is indication of ANS dysfunction (diagnosis must be confirmed by physician). There are many other tests (temperature of hand while opposing hand in ice bath etc) that can give further insight.

.

How is Dysautonomia treated?

I have really read up on Dysautonomia tonight, it really sounds like . Things that I have really been wondering about, kinda make sense now. In the summer is miserable from the heat, runs around 105. fever from just watching a ball game. He doesn't seem to have any fun at the park or the fair, he is just way too hot. We always thought that was weird but never knew why.It seems like most of the symptoms has are on the list for Dysautonomia. Do they just treat the symptoms as they go? Like he is on 80 mg. of Prilosec for G.I. Reflux.How do they give them a dx.? His MRI looked fine, yet he has so many other issues.Sorry I know that is alot of Questions!!!Tamara(mommy of age 4 (unspecific Mito) Please contact mito-owner with any problems or questions.

[Guest guest]

It is really important to not let children/adults with Dysautonomia stay out-side in the hot sun or in Winter be exposed to the cold without extra clothing as they cannot regulate their body temperature.

A gold standard for diagnosing ANS dysfunction (Dysautonomia) is the 'tilt table test'. The patient is placed is placed on a table horizontally and BP taken. It is then tilted to 60 degrees and BP taken again. If BP dramatically falls (sometimes patient even faints), they have ANS dysfunction. One can even approximate this by taking BP while sitting. Again if it dramatically falls, this is indication of ANS dysfunction (diagnosis must be confirmed by physician). There are many other tests (temperature of hand while opposing hand in ice bath etc) that can give further insight.

.

How is Dysautonomia treated?

I have really read up on Dysautonomia tonight, it really sounds like . Things that I have really been wondering about, kinda make sense now. In the summer is miserable from the heat, runs around 105. fever from just watching a ball game. He doesn't seem to have any fun at the park or the fair, he is just way too hot. We always thought that was weird but never knew why.It seems like most of the symptoms has are on the list for Dysautonomia. Do they just treat the symptoms as they go? Like he is on 80 mg. of Prilosec for G.I. Reflux.How do they give them a dx.? His MRI looked fine, yet he has so many other issues.Sorry I know that is alot of Questions!!!Tamara(mommy of age 4 (unspecific Mito) Please contact mito-owner with any problems or questions.

[Guest guest]

Thanks Deb. Your reply was interesting. I live in NEW-Zealand and my daughters medical issues have been a mystery to the Doctors here as we don't have any mito Doctors nor even metabolic Doctors. Geneticist are also as 'rare as hens teeth'.

My girls are in Dr Boles study in America. They both have cyclic vomiting and he has labelled them with MIDS. (Maternally Inherited Dysautonomia Syndrome).

Have you heard of this?

Both girls have highs and lows re.blood sugars and tons of other issues.

.

Re: How is Dysautonomia treated?

A gold standard for diagnosing ANS dysfunction (Dysautonomia) is the 'tilt table test'. The patient is placed is placed on a table horizontally and BP tak

I think what you are talking about is Orthostatic autonomic dysfunction, which is a little different...I think it would be a primary diagnosis and affects the patient a little differently. There is also a lot of information on familial dysautonomia which is also a primary genetic disease that affects certain populations/races/cultures.

Dysautonomia that is secondary to Mitochondrial disease is different and i dont' think needs to be diagnosed by testing, in fact, I would imagine those tests might be normal in a mito patient. It is rather a clinical diagnosis, by documenting how the body temps are... would run down to 93 and up to 106 but mostly on the cold side, yet always felt warm to the touch. One day I monitored his temp all through the day and gave it to our mito doc. I have a feeling that if you discussed this with a regular doc or neuro that was not knowlegeable about mito they would blow it off or order the tilt table test and not really help. The reason this is helpful to know is when you are inpatient, people can get really freaked out about off the wall temps, BPs or heartrates.

just my experience based on what my mito doc told me...

deb...mom to three great adopted kids... (07.04.96-05.26.03) with Mitochondrial Disease, Gaige age 5 with High Functioning Autism & dysfluency and Bliss age 2 with very very mild Cerebral Palsy.www.HeartLiftersGallery.comPlease contact mito-owner with any problems or questions.

[Guest guest]

Thanks Deb. Your reply was interesting. I live in NEW-Zealand and my daughters medical issues have been a mystery to the Doctors here as we don't have any mito Doctors nor even metabolic Doctors. Geneticist are also as 'rare as hens teeth'.

My girls are in Dr Boles study in America. They both have cyclic vomiting and he has labelled them with MIDS. (Maternally Inherited Dysautonomia Syndrome).

Have you heard of this?

Both girls have highs and lows re.blood sugars and tons of other issues.

.

Re: How is Dysautonomia treated?

A gold standard for diagnosing ANS dysfunction (Dysautonomia) is the 'tilt table test'. The patient is placed is placed on a table horizontally and BP tak

I think what you are talking about is Orthostatic autonomic dysfunction, which is a little different...I think it would be a primary diagnosis and affects the patient a little differently. There is also a lot of information on familial dysautonomia which is also a primary genetic disease that affects certain populations/races/cultures.

Dysautonomia that is secondary to Mitochondrial disease is different and i dont' think needs to be diagnosed by testing, in fact, I would imagine those tests might be normal in a mito patient. It is rather a clinical diagnosis, by documenting how the body temps are... would run down to 93 and up to 106 but mostly on the cold side, yet always felt warm to the touch. One day I monitored his temp all through the day and gave it to our mito doc. I have a feeling that if you discussed this with a regular doc or neuro that was not knowlegeable about mito they would blow it off or order the tilt table test and not really help. The reason this is helpful to know is when you are inpatient, people can get really freaked out about off the wall temps, BPs or heartrates.

just my experience based on what my mito doc told me...

deb...mom to three great adopted kids... (07.04.96-05.26.03) with Mitochondrial Disease, Gaige age 5 with High Functioning Autism & dysfluency and Bliss age 2 with very very mild Cerebral Palsy.www.HeartLiftersGallery.comPlease contact mito-owner with any problems or questions.

[Guest guest]

Thanks Deb. Your reply was interesting. I live in NEW-Zealand and my daughters medical issues have been a mystery to the Doctors here as we don't have any mito Doctors nor even metabolic Doctors. Geneticist are also as 'rare as hens teeth'.

My girls are in Dr Boles study in America. They both have cyclic vomiting and he has labelled them with MIDS. (Maternally Inherited Dysautonomia Syndrome).

Have you heard of this?

Both girls have highs and lows re.blood sugars and tons of other issues.

.

Re: How is Dysautonomia treated?

A gold standard for diagnosing ANS dysfunction (Dysautonomia) is the 'tilt table test'. The patient is placed is placed on a table horizontally and BP tak

I think what you are talking about is Orthostatic autonomic dysfunction, which is a little different...I think it would be a primary diagnosis and affects the patient a little differently. There is also a lot of information on familial dysautonomia which is also a primary genetic disease that affects certain populations/races/cultures.

Dysautonomia that is secondary to Mitochondrial disease is different and i dont' think needs to be diagnosed by testing, in fact, I would imagine those tests might be normal in a mito patient. It is rather a clinical diagnosis, by documenting how the body temps are... would run down to 93 and up to 106 but mostly on the cold side, yet always felt warm to the touch. One day I monitored his temp all through the day and gave it to our mito doc. I have a feeling that if you discussed this with a regular doc or neuro that was not knowlegeable about mito they would blow it off or order the tilt table test and not really help. The reason this is helpful to know is when you are inpatient, people can get really freaked out about off the wall temps, BPs or heartrates.

just my experience based on what my mito doc told me...

deb...mom to three great adopted kids... (07.04.96-05.26.03) with Mitochondrial Disease, Gaige age 5 with High Functioning Autism & dysfluency and Bliss age 2 with very very mild Cerebral Palsy.www.HeartLiftersGallery.comPlease contact mito-owner with any problems or questions.

[Guest guest]

Tamara

its just a matter of observation, like so many neurological diagnoses. They can only treat symptoms but they can no cure it...you understand that this is a defect in the brain telling the body what to do, and they can't do anything about this.

deb...mom to three great adopted kids... (07.04.96-05.26.03) with Mitochondrial Disease, Gaige age 5 with High Functioning Autism & dysfluency and Bliss age 2 with very very mild Cerebral Palsy.www.HeartLiftersGallery.com

[Guest guest]

Tamara

its just a matter of observation, like so many neurological diagnoses. They can only treat symptoms but they can no cure it...you understand that this is a defect in the brain telling the body what to do, and they can't do anything about this.

deb...mom to three great adopted kids... (07.04.96-05.26.03) with Mitochondrial Disease, Gaige age 5 with High Functioning Autism & dysfluency and Bliss age 2 with very very mild Cerebral Palsy.www.HeartLiftersGallery.com

[Guest guest]

Tamara

its just a matter of observation, like so many neurological diagnoses. They can only treat symptoms but they can no cure it...you understand that this is a defect in the brain telling the body what to do, and they can't do anything about this.

deb...mom to three great adopted kids... (07.04.96-05.26.03) with Mitochondrial Disease, Gaige age 5 with High Functioning Autism & dysfluency and Bliss age 2 with very very mild Cerebral Palsy.www.HeartLiftersGallery.com

[Guest guest]

I did forget about Neurontin...it helps some mito patients with dysautonomia altho it is a siezure and pain med...it helped temporarily but we kept having to up the dosage.

deb...mom to three great adopted kids... (07.04.96-05.26.03) with Mitochondrial Disease, Gaige age 5 with High Functioning Autism & dysfluency and Bliss age 2 with very very mild Cerebral Palsy.www.HeartLiftersGallery.com

[Guest guest]

I did forget about Neurontin...it helps some mito patients with dysautonomia altho it is a siezure and pain med...it helped temporarily but we kept having to up the dosage.

deb...mom to three great adopted kids... (07.04.96-05.26.03) with Mitochondrial Disease, Gaige age 5 with High Functioning Autism & dysfluency and Bliss age 2 with very very mild Cerebral Palsy.www.HeartLiftersGallery.com

[Guest guest]

I did forget about Neurontin...it helps some mito patients with dysautonomia altho it is a siezure and pain med...it helped temporarily but we kept having to up the dosage.

deb...mom to three great adopted kids... (07.04.96-05.26.03) with Mitochondrial Disease, Gaige age 5 with High Functioning Autism & dysfluency and Bliss age 2 with very very mild Cerebral Palsy.www.HeartLiftersGallery.com

[Guest guest]

I have really read up on Dysautonomia tonight, it really sounds like

. Things that I have really been wondering about, kinda make

sense now. In the summer is miserable from the heat, runs

around 105. fever from just watching a ball game. He doesn't seem to

have any fun at the park or the fair, he is just way too hot. We

always thought that was weird but never knew why.

It seems like most of the symptoms has are on the list for

Dysautonomia. Do they just treat the symptoms as they go? Like he

is on 80 mg. of Prilosec for G.I. Reflux.

How do they give them a dx.? His MRI looked fine, yet he has so many

other issues.

Sorry I know that is alot of Questions!!!

Tamara(mommy of age 4 (unspecific Mito)

[Guest guest]

We just saw a new GI and he told us that we could check to see if 's pH

in her tummy was over 4. She has a g-tube. If it is, she does not need as

much zantac and previcid. The dose of previcid you mentioned is higher than

an adults. 20 mg a day is for a normal sized adult and 40 mg is for a heavy

one. Have they tried nexium?

Dysautonomia is treated based upon symptom management. Beta blockers

and antidepressants are often used.

[Guest guest]

We just saw a new GI and he told us that we could check to see if 's pH

in her tummy was over 4. She has a g-tube. If it is, she does not need as

much zantac and previcid. The dose of previcid you mentioned is higher than

an adults. 20 mg a day is for a normal sized adult and 40 mg is for a heavy

one. Have they tried nexium?

Dysautonomia is treated based upon symptom management. Beta blockers

and antidepressants are often used.

[Guest guest]

We just saw a new GI and he told us that we could check to see if 's pH

in her tummy was over 4. She has a g-tube. If it is, she does not need as

much zantac and previcid. The dose of previcid you mentioned is higher than

an adults. 20 mg a day is for a normal sized adult and 40 mg is for a heavy

one. Have they tried nexium?

Dysautonomia is treated based upon symptom management. Beta blockers

and antidepressants are often used.

[Guest guest]

A gold standard for diagnosing ANS dysfunction (Dysautonomia) is the 'tilt table test'. The patient is placed is placed on a table horizontally and BP tak

I think what you are talking about is Orthostatic autonomic dysfunction, which is a little different...I think it would be a primary diagnosis and affects the patient a little differently. There is also a lot of information on familial dysautonomia which is also a primary genetic disease that affects certain populations/races/cultures.

Dysautonomia that is secondary to Mitochondrial disease is different and i dont' think needs to be diagnosed by testing, in fact, I would imagine those tests might be normal in a mito patient. It is rather a clinical diagnosis, by documenting how the body temps are... would run down to 93 and up to 106 but mostly on the cold side, yet always felt warm to the touch. One day I monitored his temp all through the day and gave it to our mito doc. I have a feeling that if you discussed this with a regular doc or neuro that was not knowlegeable about mito they would blow it off or order the tilt table test and not really help. The reason this is helpful to know is when you are inpatient, people can get really freaked out about off the wall temps, BPs or heartrates.

just my experience based on what my mito doc told me...

deb...mom to three great adopted kids... (07.04.96-05.26.03) with Mitochondrial Disease, Gaige age 5 with High Functioning Autism & dysfluency and Bliss age 2 with very very mild Cerebral Palsy.www.HeartLiftersGallery.com

[Guest guest]

A gold standard for diagnosing ANS dysfunction (Dysautonomia) is the 'tilt table test'. The patient is placed is placed on a table horizontally and BP tak

I think what you are talking about is Orthostatic autonomic dysfunction, which is a little different...I think it would be a primary diagnosis and affects the patient a little differently. There is also a lot of information on familial dysautonomia which is also a primary genetic disease that affects certain populations/races/cultures.

Dysautonomia that is secondary to Mitochondrial disease is different and i dont' think needs to be diagnosed by testing, in fact, I would imagine those tests might be normal in a mito patient. It is rather a clinical diagnosis, by documenting how the body temps are... would run down to 93 and up to 106 but mostly on the cold side, yet always felt warm to the touch. One day I monitored his temp all through the day and gave it to our mito doc. I have a feeling that if you discussed this with a regular doc or neuro that was not knowlegeable about mito they would blow it off or order the tilt table test and not really help. The reason this is helpful to know is when you are inpatient, people can get really freaked out about off the wall temps, BPs or heartrates.

just my experience based on what my mito doc told me...

deb...mom to three great adopted kids... (07.04.96-05.26.03) with Mitochondrial Disease, Gaige age 5 with High Functioning Autism & dysfluency and Bliss age 2 with very very mild Cerebral Palsy.www.HeartLiftersGallery.com

[Guest guest]

Hi there down under Kiwis!

Here is a page for the Cyclic Vomiting Syndrome Association.

I also found this on a search and I am not sure that the link to the page

will work ..... so here below is the cut and paste...

Jean

*******

As Reprinted from

Code “V” -The Official Newsletter of the CVSA-USA/Canada

Vol 8 No 1 Winter 2000

Cyclic Vomiting in Mitochondrial Disease

G. Boles, M.D., Attending Physician

Division of Medical Genetic Childrens Hospital Los Angeles, Assistant

Professor of Pediatrics University of Southern California School of

Medicine, Los Angeles, CA, USA Scientific Advisory Board, United Mitochondrial Disease Foundation, Faculty Advisor, CVSA-USA/Canada Medical

Advisory Board

Gastrointestinal (GI) symptoms are commonly encountered in patients

with mitochondrial disease. Most often, symptoms are episodic in that

they come and go, and are related to 'functional' problems of the bowel.

In particular, vomiting is common among sufferers of many different

mitochondrial disorders, and among these individuals, vomiting itself

has many different causes. An occasional bout of vomiting is common,

especially in infants, and is often found to be caused by gastroesophageal

reflux.

This article discusses one particular type of vomiting disorder, called

'cyclic vomiting'. Cyclic vomiting is not new as it was first described

in the eighteenth century, although even today very few physicians or

other clinical care providers have heard of it. Cyclic vomiting refers

to discrete and severe episodes of vomiting, nausea and lethargy (severe

tiredness). Episodes are discrete in that the sufferer is free of nausea

and vomiting between episodes. Episodes are severe in that the sufferer

almost always feels quite ill, preferring to lie down in a dark and/or

quiet place, and not interested in any of the activities of life. Vomiting

and loss of appetite can be severe enough to necessitate hospitalization

for intravenous (IV) fluids with each episode. In other cases, nausea

and lethargy may be much more troublesome than vomiting. Episodes can

occur on a routine schedule (such as once a week or once a month), be

triggered by physical or psychological stress, or appear to come at

random. Each episode can last for hours to cases, nausea and lethargy

may be much more troublesome than vomiting. Episodes can occur on a

routine schedule (such as once a week or once a month), be triggered

by physical or psychological stress, or appear to come at random. Each

episode can last for hours to many days, but usually there is a characteristic

duration in each individual patient. In some cases, an episode may be

stopped if the child sleeps. Some sufferers have additional symptoms

during episodes such as loose stools, drooling or headache. There may

or may not be an 'aura', or symptoms which occur before vomiting begins.

In most cases, cyclic vomiting starts in children ranging from age 3

to 8 years, although the disorder can start at any age including in

infants and adults. Cyclic vomiting can run its course and resolve, continue indefinitely, or change into migraine headaches. Most sufferers

have normal intelligence and are generally healthy between episodes,

however, many of them have various degrees of developmental delay and/or

additional problems such as epilepsy.

Cyclic vomiting has many known causes, including intestinal blockage,

brain disorders, kidney disease, and several different metabolic disorders.

Many of these causes are treatable, and a careful diagnostic work-up

is important. However, in the vast majority of cases, none of the above

causes can be found, and these individuals are given the diagnosis of

'cyclic vomiting syndrome' or 'CVS'. Migraine headaches and episodic

severe abdominal pain (abdominal migraine) are very common in CVS sufferers

and their family members alike (usually in the maternal relatives!).

At present, migraine headaches, abdominal migraine and CVS are considered

to be related, and possibly are different manifestations of the same

disorder.

Cyclic vomiting has been reported in individuals with the A3243G 'MELAS'

mutation in the mitochondrial DNA (mtDNA). In addition, one child with

CVS, developmental delay, seizures, growth delay and additional problems

was reported to have a large mtDNA deletion and duplication. However,

in my experience as a metabolic geneticist, CVS with or without additional

problems is not rare in children with mitochondrial disorders, and among

this group, 'routine' mtDNA analysis fails to identify previously known

mtDNA mutations in most of them.

To date, I have personally evaluated about 15 children with CVS and

suspected mitochondrial disease. These and an additional 50 cases worldwide

with CVS and additional neuromuscular problems (a group at risk for

possible mitochondrial disease) have been entered into an ongoing research

study. Many of these children have a specific pattern of additional

clinical and laboratory findings including GI dysmotility (reflux, delayed

gastric emptying, constipation), dysautonomia (unexplained fevers, high

heart rate, etc.), muscle weakness, chronic fatigue, seizures and pain

(head, abdomen and/or extremities). The latter is occasionally associated

with swelling and skin discoloration in a manner suggestive of neurovascular

dystrophy. No single child suffers from all of these problems, and when

present in a given child the symptoms tend to be episodic and variable.

In some of these children, cyclic vomiting itself is a minor part of

the child's problems, and may disappear or never have been present.

Intelligence ranges from gifted to severe mental retardation.

Laboratory analysis in children with CVS and mitochondrial disease demonstrates elevated lactic acid and abnormal urine organic acids (ketones,

Kreb cycle intermediates, and/or ethylmalonate) early in vomiting episodes,

but biochemical tests are rarely abnormal at other times. A few children

have received muscle biopsies which revealed findings suggestive of

mitochondrial dysfunction, including increased variation in fiber size,

mitochondrial proliferation, and/or complex 1 deficiency. In my opinion,

the most striking finding is maternal inheritance of the same episodic

problems often seen in the affected children themselves, but usually

to a lesser degree, including migraine, cyclic vomiting, GI dysmotility,

dysautonomia, muscle weakness or pain, chronic fatigue, and/or seizures.

At the time of this writing, at least 5 unrelated cases were found to

have heteroplasmic (two different mtDNA sequences present in the same

individual) nucleotide changes in the HV1 area of the mtDNA control

region. These molecular variants are maternally inherited (present in

mother and siblings, even if they themselves are without symptoms) and

were not found in over 100 children without mitochondrial disease. The

same control region variants were found in children with mitochondrial

disease but without CVS, and the significance of our recent findings

are not yet clear and are the subject of ongoing investigation. However,

our data does demonstrate that mitochondrial disease with cyclic vomiting

is often maternally inherited.

Unlike most published cases with mitochondrial disorders, disease progression appears to be rare in these children. One exception to the

general benign disease course is that a few families have had infants

under age 2 years who suddenly died and were labeled as "SIDS". Most

children, and especially their affected relatives, attend normal schools

or have jobs/careers, and their lives are fairly normal between disease

episodes. In many school-aged affected children, severe fatigue and

muscle weakness has necessitated the occasional usage of wheelchairs

and/or half day or home schooling. All too often, clinic care providers

and/or school personnel have down-played the disease process, even to

the extent of labeling the child/family as exaggerating symptoms, being

psycho-logically disturbed, or having caused the illness (Munchausen

By Proxy).

The good news is that treatments are available for cyclic vomiting in

individuals with mitochondrial disease. In mitochondrial disease, symptoms

are believed to occur when energy supply cannot meet energy demand.

Since often little can be done to increase energy supply, decreasing

energy demand is a major part of therapy. In practical terms, this means

the reduction of stress, including the avoidance of fasting, limiting

exposure to environ-mental temperature extremes, and the prompt treatment

of infections and dehydration. Cyclic vomiting and other symptoms often

improve with frequent feedings of complex carbohydrate, including between

meals and at bedtime. Other children improve if awakened during sleep

for a snack and/or placed on a low fat diet. In addition to physical

stress, the reduction of psychological stress is important: not because

this is the cause of the disease, but because stress increases energy

demand and can trigger an episode. In cases in which the response to

these simple measures is not adequate, anti-migraine medication including

amitriptyline-line (Elavil), cyproheptadine (Periactin) or propranolol

(Inderal) taken daily or more often can reduce the number of vomiting

episodes in most cases, sometimes dramatically. When they do occur,

vomiting episodes are treated with IV fluids (10% dextrose with standard

electrolytes at a rate of 1.5 to 2 times maintenance) in a dark and

quiet room in order to facilitate sleep. In some cases, ondansetron

(Zofran) and/or medications to induce sleep (i.e. lorazepam/Ativan)

are helpful.

Diagnostic work-up (testing) must be tailor-fit to each individual child.

Of course, confirming the diagnosis of mitochondrial disease and ruling

out other treatable metabolic disorders (urea cycle disorders, organic

acidemias) should be pursued. I suggest that a minimum work-up should

include serum electrolytes, routine urinalysis, plasma lactate, quantitative

plasma amino acids and quantitative urine organic acids (including full

quantification of Kreb cycle intermediates and other potential 'mitochondrial

markers'), with samples obtained early in a severe or typical vomiting

episode. Mitochondrial DNA analysis should include at a minimum PCR

for A3243G and Southern blotting. Unless the diagnosis of mitochondrial

disease is firm and CVS symptoms respond to treatment, work-up for other

potential causes of cyclic vomiting should be performed, possibly including

but not necessarily limited to: upper GI series, abdominal ultrasound,

brain CT scan, and testing for sinusitis, prophyria and pregnancy. Probably

no single individual requires, or should receive, all of the studies

listed, and it is important to discuss the work-up with your child's

physician.

This is a very new and rapidly evolving field, and not even half of

the answers are known yet. Much of our understanding of, and hopefully

our ability to treat, this disorder will improve over the next several

months to years. I am writing this article at this early stage with

the hope that some children will be steered towards treatments now which

may be somewhat helpful to them. For more information, CVSA and the

United Mitochondrial Disease Foundation, may be helpful. I suggest browsing

their websites at www.cvsaonline.org

or www.umdf.org In addition, information

on any available studies in CVS (with or without mitochondrial disease)

and their entrance criteria and procedures are listed there. All information copyright

1998-2003

CVSA-USA/Canada

3585 Cedar Hill Rd. N.W., Canal Winchester, OH 43110

Telephone:

E-mail: waitesd@...

and Lawton wrote:

Thanks Deb. Your reply was interesting. I live in NEW-Zealand and

my daughters medical issues have been a mystery to the Doctors here as we

don't have any mito Doctors nor even metabolic Doctors. Geneticist are also

as 'rare as hens teeth'.

My girls are in Dr Boles study in America. They both have cyclic vomiting

and he has labelled them with MIDS. (Maternally Inherited Dysautonomia

Syndrome).

Have you heard of this?

Both girls have highs and lows re.blood sugars and tons of other issues.

.

[Guest guest]

Hi there down under Kiwis!

Here is a page for the Cyclic Vomiting Syndrome Association.

I also found this on a search and I am not sure that the link to the page

will work ..... so here below is the cut and paste...

Jean

*******

As Reprinted from

Code “V” -The Official Newsletter of the CVSA-USA/Canada

Vol 8 No 1 Winter 2000

Cyclic Vomiting in Mitochondrial Disease

G. Boles, M.D., Attending Physician

Division of Medical Genetic Childrens Hospital Los Angeles, Assistant

Professor of Pediatrics University of Southern California School of

Medicine, Los Angeles, CA, USA Scientific Advisory Board, United Mitochondrial Disease Foundation, Faculty Advisor, CVSA-USA/Canada Medical

Advisory Board

Gastrointestinal (GI) symptoms are commonly encountered in patients

with mitochondrial disease. Most often, symptoms are episodic in that

they come and go, and are related to 'functional' problems of the bowel.

In particular, vomiting is common among sufferers of many different

mitochondrial disorders, and among these individuals, vomiting itself

has many different causes. An occasional bout of vomiting is common,

especially in infants, and is often found to be caused by gastroesophageal

reflux.

This article discusses one particular type of vomiting disorder, called

'cyclic vomiting'. Cyclic vomiting is not new as it was first described

in the eighteenth century, although even today very few physicians or

other clinical care providers have heard of it. Cyclic vomiting refers

to discrete and severe episodes of vomiting, nausea and lethargy (severe

tiredness). Episodes are discrete in that the sufferer is free of nausea

and vomiting between episodes. Episodes are severe in that the sufferer

almost always feels quite ill, preferring to lie down in a dark and/or

quiet place, and not interested in any of the activities of life. Vomiting

and loss of appetite can be severe enough to necessitate hospitalization

for intravenous (IV) fluids with each episode. In other cases, nausea

and lethargy may be much more troublesome than vomiting. Episodes can

occur on a routine schedule (such as once a week or once a month), be

triggered by physical or psychological stress, or appear to come at

random. Each episode can last for hours to cases, nausea and lethargy

may be much more troublesome than vomiting. Episodes can occur on a

routine schedule (such as once a week or once a month), be triggered

by physical or psychological stress, or appear to come at random. Each

episode can last for hours to many days, but usually there is a characteristic

duration in each individual patient. In some cases, an episode may be

stopped if the child sleeps. Some sufferers have additional symptoms

during episodes such as loose stools, drooling or headache. There may

or may not be an 'aura', or symptoms which occur before vomiting begins.

In most cases, cyclic vomiting starts in children ranging from age 3

to 8 years, although the disorder can start at any age including in

infants and adults. Cyclic vomiting can run its course and resolve, continue indefinitely, or change into migraine headaches. Most sufferers

have normal intelligence and are generally healthy between episodes,

however, many of them have various degrees of developmental delay and/or

additional problems such as epilepsy.

Cyclic vomiting has many known causes, including intestinal blockage,

brain disorders, kidney disease, and several different metabolic disorders.

Many of these causes are treatable, and a careful diagnostic work-up

is important. However, in the vast majority of cases, none of the above

causes can be found, and these individuals are given the diagnosis of

'cyclic vomiting syndrome' or 'CVS'. Migraine headaches and episodic

severe abdominal pain (abdominal migraine) are very common in CVS sufferers

and their family members alike (usually in the maternal relatives!).

At present, migraine headaches, abdominal migraine and CVS are considered

to be related, and possibly are different manifestations of the same

disorder.

Cyclic vomiting has been reported in individuals with the A3243G 'MELAS'

mutation in the mitochondrial DNA (mtDNA). In addition, one child with

CVS, developmental delay, seizures, growth delay and additional problems

was reported to have a large mtDNA deletion and duplication. However,

in my experience as a metabolic geneticist, CVS with or without additional

problems is not rare in children with mitochondrial disorders, and among

this group, 'routine' mtDNA analysis fails to identify previously known

mtDNA mutations in most of them.

To date, I have personally evaluated about 15 children with CVS and

suspected mitochondrial disease. These and an additional 50 cases worldwide

with CVS and additional neuromuscular problems (a group at risk for

possible mitochondrial disease) have been entered into an ongoing research

study. Many of these children have a specific pattern of additional

clinical and laboratory findings including GI dysmotility (reflux, delayed

gastric emptying, constipation), dysautonomia (unexplained fevers, high

heart rate, etc.), muscle weakness, chronic fatigue, seizures and pain

(head, abdomen and/or extremities). The latter is occasionally associated

with swelling and skin discoloration in a manner suggestive of neurovascular

dystrophy. No single child suffers from all of these problems, and when

present in a given child the symptoms tend to be episodic and variable.

In some of these children, cyclic vomiting itself is a minor part of

the child's problems, and may disappear or never have been present.

Intelligence ranges from gifted to severe mental retardation.

Laboratory analysis in children with CVS and mitochondrial disease demonstrates elevated lactic acid and abnormal urine organic acids (ketones,

Kreb cycle intermediates, and/or ethylmalonate) early in vomiting episodes,

but biochemical tests are rarely abnormal at other times. A few children

have received muscle biopsies which revealed findings suggestive of

mitochondrial dysfunction, including increased variation in fiber size,

mitochondrial proliferation, and/or complex 1 deficiency. In my opinion,

the most striking finding is maternal inheritance of the same episodic

problems often seen in the affected children themselves, but usually

to a lesser degree, including migraine, cyclic vomiting, GI dysmotility,

dysautonomia, muscle weakness or pain, chronic fatigue, and/or seizures.

At the time of this writing, at least 5 unrelated cases were found to

have heteroplasmic (two different mtDNA sequences present in the same

individual) nucleotide changes in the HV1 area of the mtDNA control

region. These molecular variants are maternally inherited (present in

mother and siblings, even if they themselves are without symptoms) and

were not found in over 100 children without mitochondrial disease. The

same control region variants were found in children with mitochondrial

disease but without CVS, and the significance of our recent findings

are not yet clear and are the subject of ongoing investigation. However,

our data does demonstrate that mitochondrial disease with cyclic vomiting

is often maternally inherited.

Unlike most published cases with mitochondrial disorders, disease progression appears to be rare in these children. One exception to the

general benign disease course is that a few families have had infants

under age 2 years who suddenly died and were labeled as "SIDS". Most

children, and especially their affected relatives, attend normal schools

or have jobs/careers, and their lives are fairly normal between disease

episodes. In many school-aged affected children, severe fatigue and

muscle weakness has necessitated the occasional usage of wheelchairs

and/or half day or home schooling. All too often, clinic care providers

and/or school personnel have down-played the disease process, even to

the extent of labeling the child/family as exaggerating symptoms, being

psycho-logically disturbed, or having caused the illness (Munchausen

By Proxy).

The good news is that treatments are available for cyclic vomiting in

individuals with mitochondrial disease. In mitochondrial disease, symptoms

are believed to occur when energy supply cannot meet energy demand.

Since often little can be done to increase energy supply, decreasing

energy demand is a major part of therapy. In practical terms, this means

the reduction of stress, including the avoidance of fasting, limiting

exposure to environ-mental temperature extremes, and the prompt treatment

of infections and dehydration. Cyclic vomiting and other symptoms often

improve with frequent feedings of complex carbohydrate, including between

meals and at bedtime. Other children improve if awakened during sleep

for a snack and/or placed on a low fat diet. In addition to physical

stress, the reduction of psychological stress is important: not because

this is the cause of the disease, but because stress increases energy

demand and can trigger an episode. In cases in which the response to

these simple measures is not adequate, anti-migraine medication including

amitriptyline-line (Elavil), cyproheptadine (Periactin) or propranolol

(Inderal) taken daily or more often can reduce the number of vomiting

episodes in most cases, sometimes dramatically. When they do occur,

vomiting episodes are treated with IV fluids (10% dextrose with standard

electrolytes at a rate of 1.5 to 2 times maintenance) in a dark and

quiet room in order to facilitate sleep. In some cases, ondansetron

(Zofran) and/or medications to induce sleep (i.e. lorazepam/Ativan)

are helpful.

Diagnostic work-up (testing) must be tailor-fit to each individual child.

Of course, confirming the diagnosis of mitochondrial disease and ruling

out other treatable metabolic disorders (urea cycle disorders, organic

acidemias) should be pursued. I suggest that a minimum work-up should

include serum electrolytes, routine urinalysis, plasma lactate, quantitative

plasma amino acids and quantitative urine organic acids (including full

quantification of Kreb cycle intermediates and other potential 'mitochondrial

markers'), with samples obtained early in a severe or typical vomiting

episode. Mitochondrial DNA analysis should include at a minimum PCR

for A3243G and Southern blotting. Unless the diagnosis of mitochondrial

disease is firm and CVS symptoms respond to treatment, work-up for other

potential causes of cyclic vomiting should be performed, possibly including

but not necessarily limited to: upper GI series, abdominal ultrasound,

brain CT scan, and testing for sinusitis, prophyria and pregnancy. Probably

no single individual requires, or should receive, all of the studies

listed, and it is important to discuss the work-up with your child's

physician.

This is a very new and rapidly evolving field, and not even half of

the answers are known yet. Much of our understanding of, and hopefully

our ability to treat, this disorder will improve over the next several

months to years. I am writing this article at this early stage with

the hope that some children will be steered towards treatments now which

may be somewhat helpful to them. For more information, CVSA and the

United Mitochondrial Disease Foundation, may be helpful. I suggest browsing

their websites at www.cvsaonline.org

or www.umdf.org In addition, information

on any available studies in CVS (with or without mitochondrial disease)

and their entrance criteria and procedures are listed there. All information copyright

1998-2003

CVSA-USA/Canada

3585 Cedar Hill Rd. N.W., Canal Winchester, OH 43110

Telephone:

E-mail: waitesd@...

and Lawton wrote:

Thanks Deb. Your reply was interesting. I live in NEW-Zealand and

my daughters medical issues have been a mystery to the Doctors here as we

don't have any mito Doctors nor even metabolic Doctors. Geneticist are also

as 'rare as hens teeth'.

My girls are in Dr Boles study in America. They both have cyclic vomiting

and he has labelled them with MIDS. (Maternally Inherited Dysautonomia

Syndrome).

Have you heard of this?

Both girls have highs and lows re.blood sugars and tons of other issues.

.

[Guest guest]

Hi there down under Kiwis!

Here is a page for the Cyclic Vomiting Syndrome Association.

I also found this on a search and I am not sure that the link to the page

will work ..... so here below is the cut and paste...

Jean

*******

As Reprinted from

Code “V” -The Official Newsletter of the CVSA-USA/Canada

Vol 8 No 1 Winter 2000

Cyclic Vomiting in Mitochondrial Disease

G. Boles, M.D., Attending Physician

Division of Medical Genetic Childrens Hospital Los Angeles, Assistant

Professor of Pediatrics University of Southern California School of

Medicine, Los Angeles, CA, USA Scientific Advisory Board, United Mitochondrial Disease Foundation, Faculty Advisor, CVSA-USA/Canada Medical

Advisory Board

Gastrointestinal (GI) symptoms are commonly encountered in patients

with mitochondrial disease. Most often, symptoms are episodic in that

they come and go, and are related to 'functional' problems of the bowel.

In particular, vomiting is common among sufferers of many different

mitochondrial disorders, and among these individuals, vomiting itself

has many different causes. An occasional bout of vomiting is common,

especially in infants, and is often found to be caused by gastroesophageal

reflux.

This article discusses one particular type of vomiting disorder, called

'cyclic vomiting'. Cyclic vomiting is not new as it was first described

in the eighteenth century, although even today very few physicians or

other clinical care providers have heard of it. Cyclic vomiting refers

to discrete and severe episodes of vomiting, nausea and lethargy (severe

tiredness). Episodes are discrete in that the sufferer is free of nausea

and vomiting between episodes. Episodes are severe in that the sufferer

almost always feels quite ill, preferring to lie down in a dark and/or

quiet place, and not interested in any of the activities of life. Vomiting

and loss of appetite can be severe enough to necessitate hospitalization

for intravenous (IV) fluids with each episode. In other cases, nausea

and lethargy may be much more troublesome than vomiting. Episodes can

occur on a routine schedule (such as once a week or once a month), be

triggered by physical or psychological stress, or appear to come at

random. Each episode can last for hours to cases, nausea and lethargy

may be much more troublesome than vomiting. Episodes can occur on a

routine schedule (such as once a week or once a month), be triggered

by physical or psychological stress, or appear to come at random. Each

episode can last for hours to many days, but usually there is a characteristic

duration in each individual patient. In some cases, an episode may be

stopped if the child sleeps. Some sufferers have additional symptoms

during episodes such as loose stools, drooling or headache. There may

or may not be an 'aura', or symptoms which occur before vomiting begins.

In most cases, cyclic vomiting starts in children ranging from age 3

to 8 years, although the disorder can start at any age including in

infants and adults. Cyclic vomiting can run its course and resolve, continue indefinitely, or change into migraine headaches. Most sufferers

have normal intelligence and are generally healthy between episodes,

however, many of them have various degrees of developmental delay and/or

additional problems such as epilepsy.

Cyclic vomiting has many known causes, including intestinal blockage,

brain disorders, kidney disease, and several different metabolic disorders.

Many of these causes are treatable, and a careful diagnostic work-up

is important. However, in the vast majority of cases, none of the above

causes can be found, and these individuals are given the diagnosis of

'cyclic vomiting syndrome' or 'CVS'. Migraine headaches and episodic

severe abdominal pain (abdominal migraine) are very common in CVS sufferers

and their family members alike (usually in the maternal relatives!).

At present, migraine headaches, abdominal migraine and CVS are considered

to be related, and possibly are different manifestations of the same

disorder.

Cyclic vomiting has been reported in individuals with the A3243G 'MELAS'

mutation in the mitochondrial DNA (mtDNA). In addition, one child with

CVS, developmental delay, seizures, growth delay and additional problems

was reported to have a large mtDNA deletion and duplication. However,

in my experience as a metabolic geneticist, CVS with or without additional

problems is not rare in children with mitochondrial disorders, and among

this group, 'routine' mtDNA analysis fails to identify previously known

mtDNA mutations in most of them.

To date, I have personally evaluated about 15 children with CVS and

suspected mitochondrial disease. These and an additional 50 cases worldwide

with CVS and additional neuromuscular problems (a group at risk for

possible mitochondrial disease) have been entered into an ongoing research

study. Many of these children have a specific pattern of additional

clinical and laboratory findings including GI dysmotility (reflux, delayed

gastric emptying, constipation), dysautonomia (unexplained fevers, high

heart rate, etc.), muscle weakness, chronic fatigue, seizures and pain

(head, abdomen and/or extremities). The latter is occasionally associated

with swelling and skin discoloration in a manner suggestive of neurovascular

dystrophy. No single child suffers from all of these problems, and when

present in a given child the symptoms tend to be episodic and variable.

In some of these children, cyclic vomiting itself is a minor part of

the child's problems, and may disappear or never have been present.

Intelligence ranges from gifted to severe mental retardation.

Laboratory analysis in children with CVS and mitochondrial disease demonstrates elevated lactic acid and abnormal urine organic acids (ketones,

Kreb cycle intermediates, and/or ethylmalonate) early in vomiting episodes,

but biochemical tests are rarely abnormal at other times. A few children

have received muscle biopsies which revealed findings suggestive of

mitochondrial dysfunction, including increased variation in fiber size,

mitochondrial proliferation, and/or complex 1 deficiency. In my opinion,

the most striking finding is maternal inheritance of the same episodic

problems often seen in the affected children themselves, but usually

to a lesser degree, including migraine, cyclic vomiting, GI dysmotility,

dysautonomia, muscle weakness or pain, chronic fatigue, and/or seizures.

At the time of this writing, at least 5 unrelated cases were found to

have heteroplasmic (two different mtDNA sequences present in the same

individual) nucleotide changes in the HV1 area of the mtDNA control

region. These molecular variants are maternally inherited (present in

mother and siblings, even if they themselves are without symptoms) and

were not found in over 100 children without mitochondrial disease. The

same control region variants were found in children with mitochondrial

disease but without CVS, and the significance of our recent findings

are not yet clear and are the subject of ongoing investigation. However,

our data does demonstrate that mitochondrial disease with cyclic vomiting

is often maternally inherited.

Unlike most published cases with mitochondrial disorders, disease progression appears to be rare in these children. One exception to the

general benign disease course is that a few families have had infants

under age 2 years who suddenly died and were labeled as "SIDS". Most

children, and especially their affected relatives, attend normal schools

or have jobs/careers, and their lives are fairly normal between disease

episodes. In many school-aged affected children, severe fatigue and

muscle weakness has necessitated the occasional usage of wheelchairs

and/or half day or home schooling. All too often, clinic care providers

and/or school personnel have down-played the disease process, even to

the extent of labeling the child/family as exaggerating symptoms, being

psycho-logically disturbed, or having caused the illness (Munchausen

By Proxy).

The good news is that treatments are available for cyclic vomiting in

individuals with mitochondrial disease. In mitochondrial disease, symptoms

are believed to occur when energy supply cannot meet energy demand.

Since often little can be done to increase energy supply, decreasing

energy demand is a major part of therapy. In practical terms, this means

the reduction of stress, including the avoidance of fasting, limiting

exposure to environ-mental temperature extremes, and the prompt treatment

of infections and dehydration. Cyclic vomiting and other symptoms often

improve with frequent feedings of complex carbohydrate, including between

meals and at bedtime. Other children improve if awakened during sleep

for a snack and/or placed on a low fat diet. In addition to physical

stress, the reduction of psychological stress is important: not because

this is the cause of the disease, but because stress increases energy

demand and can trigger an episode. In cases in which the response to

these simple measures is not adequate, anti-migraine medication including

amitriptyline-line (Elavil), cyproheptadine (Periactin) or propranolol

(Inderal) taken daily or more often can reduce the number of vomiting

episodes in most cases, sometimes dramatically. When they do occur,

vomiting episodes are treated with IV fluids (10% dextrose with standard

electrolytes at a rate of 1.5 to 2 times maintenance) in a dark and

quiet room in order to facilitate sleep. In some cases, ondansetron

(Zofran) and/or medications to induce sleep (i.e. lorazepam/Ativan)

are helpful.

Diagnostic work-up (testing) must be tailor-fit to each individual child.

Of course, confirming the diagnosis of mitochondrial disease and ruling

out other treatable metabolic disorders (urea cycle disorders, organic

acidemias) should be pursued. I suggest that a minimum work-up should

include serum electrolytes, routine urinalysis, plasma lactate, quantitative

plasma amino acids and quantitative urine organic acids (including full

quantification of Kreb cycle intermediates and other potential 'mitochondrial

markers'), with samples obtained early in a severe or typical vomiting

episode. Mitochondrial DNA analysis should include at a minimum PCR

for A3243G and Southern blotting. Unless the diagnosis of mitochondrial

disease is firm and CVS symptoms respond to treatment, work-up for other

potential causes of cyclic vomiting should be performed, possibly including

but not necessarily limited to: upper GI series, abdominal ultrasound,

brain CT scan, and testing for sinusitis, prophyria and pregnancy. Probably

no single individual requires, or should receive, all of the studies

listed, and it is important to discuss the work-up with your child's

physician.

This is a very new and rapidly evolving field, and not even half of

the answers are known yet. Much of our understanding of, and hopefully

our ability to treat, this disorder will improve over the next several

months to years. I am writing this article at this early stage with

the hope that some children will be steered towards treatments now which

may be somewhat helpful to them. For more information, CVSA and the

United Mitochondrial Disease Foundation, may be helpful. I suggest browsing

their websites at www.cvsaonline.org

or www.umdf.org In addition, information

on any available studies in CVS (with or without mitochondrial disease)

and their entrance criteria and procedures are listed there. All information copyright

1998-2003

CVSA-USA/Canada

3585 Cedar Hill Rd. N.W., Canal Winchester, OH 43110

Telephone:

E-mail: waitesd@...

and Lawton wrote:

Thanks Deb. Your reply was interesting. I live in NEW-Zealand and

my daughters medical issues have been a mystery to the Doctors here as we

don't have any mito Doctors nor even metabolic Doctors. Geneticist are also

as 'rare as hens teeth'.

My girls are in Dr Boles study in America. They both have cyclic vomiting

and he has labelled them with MIDS. (Maternally Inherited Dysautonomia

Syndrome).

Have you heard of this?

Both girls have highs and lows re.blood sugars and tons of other issues.

.

[Guest guest]

My children were diagnosed with dysautonomia by Felicia Axelrod of

NYU Medical Center's Dysautonomia Treatment and Evaluation Center.

She has pretty much been considered one of if not the world's expert

on dysautonomia.

It is true that there is not one specific pill or therapy that will

make it all go away. But there are definately things that can be

done. Thouhg it has been years since the children have seen her, our

MD in Wisconsin does call her occasionally to ask for her help.

Some of the things we have found helpful are:

neurontin + amitriptilline for the migraine episodes that are

milder. The migraines are often abdominal and do not involve

headaches. When the kids have headaches we have found that narcotics

+ sedatives are the only thing that helps.

Valium - she was the first one to suggest that if we were seeing

autonomic signs associated with gagging, retching and vomiting such

as huge changes in heart rate (sinus arrythmia) and sweating that

this may be treated by valium. Up until then we were using zofran to

try to stop the nausea and it did not help. But when we combined it

with small doses of valium it completely aborted the gagging and

retching - we continue to use it with great success.

Florinef (fludrocortisone) has been very helpful in maintaining blood

pressures when my son stands up. He takes a fairly hefty dose but

it really helps.

Beta blockers have been very helpful in stabilizing the heart rate

fluctuations.

For hypertension associated with dysautonomia we use most of the

traditional antihypertensives. However there are days my little one

seems to almost get manic. he has almost no implulse control, can't

sleep, is literally bouncing off the walls, talks non stop.....she

suggested to our docs that this could be an autonomic issue. It

would last 24-48 hours and afterwards he wouild literally crash -

he'd sleep for days and he was profoundly ill - would even show organ

dysfunction/failure. This probably because due to the mito he does

not have the energy to be " manic " but some type of autonomic seizure

was occuring and he could not do anything but be manic. Now we bolus

doses of clonidine when he starts acting like that and I have to say

it really helps. He always has clonidine patches on to keep his BP

down but in addition we give 100 mcg every 4 hours of clonidine. It

does not put him out, he is still slightly hyper, and still crashes

afterwards but the extremes are less profound and he does not end up

severely ill.

Finally one of the newer things we have tried with a lot of success

if a drug called zonisamide which is an anti seizure med. Our neuro

suggested it might help with autonomic seizures (acute onset of

flushing, sweating, limp tone, sleep, nausea, gagging). We have

tried it for one year on My littlest son and I am so pleased with it.

The only time he still has these episodes is when his levels get low.

He does need far more than the recoemdned amount but it really has

improved his quality of life by minimizing those episodes. We are

going to start it on my older son next week given that he is having

similar issues.

Hope this helps. Even if there are not cures for dysautonomia there

are many things that can help minimize the symptoms and give your

child a better quality iof life.

Anne

[Guest guest]

My children were diagnosed with dysautonomia by Felicia Axelrod of

NYU Medical Center's Dysautonomia Treatment and Evaluation Center.

She has pretty much been considered one of if not the world's expert

on dysautonomia.

It is true that there is not one specific pill or therapy that will

make it all go away. But there are definately things that can be

done. Thouhg it has been years since the children have seen her, our

MD in Wisconsin does call her occasionally to ask for her help.

Some of the things we have found helpful are:

neurontin + amitriptilline for the migraine episodes that are

milder. The migraines are often abdominal and do not involve

headaches. When the kids have headaches we have found that narcotics

+ sedatives are the only thing that helps.

Valium - she was the first one to suggest that if we were seeing

autonomic signs associated with gagging, retching and vomiting such

as huge changes in heart rate (sinus arrythmia) and sweating that

this may be treated by valium. Up until then we were using zofran to

try to stop the nausea and it did not help. But when we combined it

with small doses of valium it completely aborted the gagging and

retching - we continue to use it with great success.

Florinef (fludrocortisone) has been very helpful in maintaining blood

pressures when my son stands up. He takes a fairly hefty dose but

it really helps.

Beta blockers have been very helpful in stabilizing the heart rate

fluctuations.

For hypertension associated with dysautonomia we use most of the

traditional antihypertensives. However there are days my little one

seems to almost get manic. he has almost no implulse control, can't

sleep, is literally bouncing off the walls, talks non stop.....she

suggested to our docs that this could be an autonomic issue. It

would last 24-48 hours and afterwards he wouild literally crash -

he'd sleep for days and he was profoundly ill - would even show organ

dysfunction/failure. This probably because due to the mito he does

not have the energy to be " manic " but some type of autonomic seizure

was occuring and he could not do anything but be manic. Now we bolus

doses of clonidine when he starts acting like that and I have to say

it really helps. He always has clonidine patches on to keep his BP

down but in addition we give 100 mcg every 4 hours of clonidine. It

does not put him out, he is still slightly hyper, and still crashes

afterwards but the extremes are less profound and he does not end up

severely ill.

Finally one of the newer things we have tried with a lot of success

if a drug called zonisamide which is an anti seizure med. Our neuro

suggested it might help with autonomic seizures (acute onset of

flushing, sweating, limp tone, sleep, nausea, gagging). We have

tried it for one year on My littlest son and I am so pleased with it.

The only time he still has these episodes is when his levels get low.

He does need far more than the recoemdned amount but it really has

improved his quality of life by minimizing those episodes. We are

going to start it on my older son next week given that he is having

similar issues.

Hope this helps. Even if there are not cures for dysautonomia there

are many things that can help minimize the symptoms and give your

child a better quality iof life.

Anne

[Guest guest]

My children were diagnosed with dysautonomia by Felicia Axelrod of

NYU Medical Center's Dysautonomia Treatment and Evaluation Center.

She has pretty much been considered one of if not the world's expert

on dysautonomia.

It is true that there is not one specific pill or therapy that will

make it all go away. But there are definately things that can be

done. Thouhg it has been years since the children have seen her, our

MD in Wisconsin does call her occasionally to ask for her help.

Some of the things we have found helpful are:

neurontin + amitriptilline for the migraine episodes that are

milder. The migraines are often abdominal and do not involve

headaches. When the kids have headaches we have found that narcotics

+ sedatives are the only thing that helps.

Valium - she was the first one to suggest that if we were seeing

autonomic signs associated with gagging, retching and vomiting such

as huge changes in heart rate (sinus arrythmia) and sweating that

this may be treated by valium. Up until then we were using zofran to

try to stop the nausea and it did not help. But when we combined it

with small doses of valium it completely aborted the gagging and

retching - we continue to use it with great success.

Florinef (fludrocortisone) has been very helpful in maintaining blood

pressures when my son stands up. He takes a fairly hefty dose but

it really helps.

Beta blockers have been very helpful in stabilizing the heart rate

fluctuations.

For hypertension associated with dysautonomia we use most of the

traditional antihypertensives. However there are days my little one

seems to almost get manic. he has almost no implulse control, can't

sleep, is literally bouncing off the walls, talks non stop.....she

suggested to our docs that this could be an autonomic issue. It

would last 24-48 hours and afterwards he wouild literally crash -

he'd sleep for days and he was profoundly ill - would even show organ

dysfunction/failure. This probably because due to the mito he does

not have the energy to be " manic " but some type of autonomic seizure

was occuring and he could not do anything but be manic. Now we bolus

doses of clonidine when he starts acting like that and I have to say

it really helps. He always has clonidine patches on to keep his BP

down but in addition we give 100 mcg every 4 hours of clonidine. It

does not put him out, he is still slightly hyper, and still crashes

afterwards but the extremes are less profound and he does not end up

severely ill.

Finally one of the newer things we have tried with a lot of success

if a drug called zonisamide which is an anti seizure med. Our neuro

suggested it might help with autonomic seizures (acute onset of

flushing, sweating, limp tone, sleep, nausea, gagging). We have

tried it for one year on My littlest son and I am so pleased with it.

The only time he still has these episodes is when his levels get low.

He does need far more than the recoemdned amount but it really has

improved his quality of life by minimizing those episodes. We are

going to start it on my older son next week given that he is having

similar issues.

Hope this helps. Even if there are not cures for dysautonomia there

are many things that can help minimize the symptoms and give your

child a better quality iof life.

Anne

[Guest guest]

>Finally one of the newer things we have tried with a lot of success

Anne,

>if a drug called zonisamide which is an anti seizure med. Our neuro

>suggested it might help with autonomic seizures (acute onset of

>flushing, sweating, limp tone, sleep, nausea, gagging).

Wow! Thanks for this great information! His episodes sound so much like

what Emilie has, but they've never been described to us as autonomic

seizures. Why do they classify them as seizures? I mean, are they

caused in the same way as other seizures, or is the word more descriptive

of the acuteness or of how the episode looks? Does your son have other

times when he has less dramatic versions of the same symptoms, like the

flushing? This is one of the things that confused all of us before

Emilie was diagnosed--she would have little pieces of the acute episodes,

sometimes lasting as little as 30 seconds.

Fortunately, Emilie's symptoms have been less dramatic since starting

CoQ10 and addressing her blood sugar, but it's great to have another

trick up our sleeves--I'll definitely keep the idea of using zonisamide

filed away, just in case.

Thanks!

-- Mom to:

Emilie (17), mito--complex IV, cp, ld

Kaitlin (17), cp, asthma, a few autonomic symptoms

Ian (22) migraines

....and wife to Tim, who has a heart of gold

[Guest guest]

>Finally one of the newer things we have tried with a lot of success

Anne,

>if a drug called zonisamide which is an anti seizure med. Our neuro

>suggested it might help with autonomic seizures (acute onset of

>flushing, sweating, limp tone, sleep, nausea, gagging).

Wow! Thanks for this great information! His episodes sound so much like

what Emilie has, but they've never been described to us as autonomic

seizures. Why do they classify them as seizures? I mean, are they

caused in the same way as other seizures, or is the word more descriptive

of the acuteness or of how the episode looks? Does your son have other

times when he has less dramatic versions of the same symptoms, like the

flushing? This is one of the things that confused all of us before

Emilie was diagnosed--she would have little pieces of the acute episodes,

sometimes lasting as little as 30 seconds.

Fortunately, Emilie's symptoms have been less dramatic since starting

CoQ10 and addressing her blood sugar, but it's great to have another

trick up our sleeves--I'll definitely keep the idea of using zonisamide

filed away, just in case.

Thanks!

-- Mom to:

Emilie (17), mito--complex IV, cp, ld

Kaitlin (17), cp, asthma, a few autonomic symptoms

Ian (22) migraines

....and wife to Tim, who has a heart of gold