Re: Need info on Alpers disease

[Guest guest]

Hi Alice,

It is actually spelt Alpers. It is a mito disease as well.

I have found a few links to it now using Google and the UMDF websites.

Thank you for your help.

Sharon W

[Guest guest]

Sharon, I hope that you learn helpful information about . I am very sorry for the pain I know you must feel. I know nothing about the condition, but I know all of us hurt at the mere thought of our child having an illness. My prayers are with you.

Virginia, Emma's Mom, Complex I ETC

[Guest guest]

Sharon,

Here is a link to Alpert Syndrome. http://www.faces-

cranio.org/Disord/Alpert.htm.

There is also an Alport Syndrome so I'm wondering if this was what he

meant. Did you get the spelling?

Whatever has, hopefully Dr Naviaux will get to the bottom of

it. I'm sorry this is all so difficult for the whole family.

Alice

[Guest guest]

Hi Alice. Just wanted to input that my daughter has Alpers syndrome/disease. There is not a lot of information out there about Alpers because it is so rare. It is thought to be autosomal recessive inheritance and a mitochondrial disorder, but this is not known for sure. No specific gene has been located for Alpers.

It is an entirely different syndrome from Alperts or Alports. Sincerely,

Melody , mom to (age 8/Alpers Syndrome) and Matt age 13.

Alice wrote: Sharon,Here is a link to Alpert Syndrome. http://www.faces-cranio.org/Disord/Alpert.htm.There is also an Alport Syndrome so I'm wondering if this was what he meant. Did you get the spelling? Whatever has, hopefully Dr Naviaux will get to the bottom of it. I'm sorry this is all so difficult for the whole family.Alicehttp://www.umdf.org/support/listpolicy.html - please contact mito-owner with any problems or questions.

[Guest guest]

Melody, what do you do for the liver failure? do you give CoQ10 or Vit E or acetylcysteine and if so do you feel that it has helped stop the liver failure from progressing as fast as you were told it would? Have you re biopsied since she was young and do you know if the liver damage has progressed further. It seems miraculous that she is still alive and stable after you were told she had such a poor prognosis!!!!

Can I also ask if your daughter is jaundiced? I ask because my son in end stage liver disease is not jaundiced at all - his total bili is only 0.5 Our doctor was told by Dr. Shoffner that this is typical for a mito liver failure because it is an issue of cellular energetics and that he will not necessarily every get jaundiced. He has other signs of end stage such as portal hypertension and bleeding issues and of course elevated ALT and GGT but it just seems so odd to me that he is not yellow. Just wondering f it is the same for your child.

has anyone ever talked to you about doing plasmophoeresis to get rid of the toxins that the liver can not et rid of anymore. Our doc is interested in this although we are afraid that it might not be able to be done without putting in a dialysis catheter and access is an issue for Sam.

If my questions are too intrusive forgive me please. It just seems there are so few people who have children with severe liver failure and I feel so confused at what the words end stage liver disease really mean for us.

Anne

Re: Need info on Alpers disease

Hello Sharon. My daughter, , was diagnosed with Alpers disease in November 1994. She just turned 8 yrs. old. in May. She was given a poor prognosis and we went home from ICU in Dec. 1994 with hospice care. Her progression was rapid at first, but then seemed to slow down. She continues to have 20-40 seizures per day, is now quadriplegic, O2 & Bipap dependent, cortically blind, ng tube fed, has severe cirrhosis of the liver and diffuse atrophy of the gray matter of her brain. She was a full term baby 8lb 3oz, healthy and typical for the first year of her life reaching all milestones at or above target. She began having status epilepticus at age 11 mos. after undergoing middle ear surgery (tubes). has only had one muscle biopsy and it was supposedly normal. She recently had a Mito DNA blood test that we haven't received the results on. Other diseases ruled out have been Batten's, Rett's, Leigh's, Rasmussen's encephalitis and Menkes. A liver biopsy and obvious liver failure at age 15months confirmed cirrhosis. I would be glad to share information with you. Feel free to email me personally. Sincerely, Melody lamor32twigs@... wrote: is off Tuesday to UCSD for inpatient testing and confirmation of her diagnosis.We have previously had a frozen muscle biopsy done that was read as being Mito DNA depletion syndrome.Dr. Naviaux just called me from UCSD to tell me he is sure she has Alpers disease. We will do all the confirming tests when we are there including a repeat muscle biopsy.I am now desperately searching for information on this. Of course, I am both anxious to really know for sure, but saddened over this diagnosis. I would love to hear from anyone who has a child with this, or information on this disease.Thanks,Sharon Whttp://www.umdf.org/support/listpolicy.html - please contact mito-owner with any problems or questions.

[Guest guest]

Alpers disease is a progressive neurologic condition affecting infants and

children. It is characterized by degeneration of the cerebral gray matter,

resulting in motor disturbances, seizures, and dementia. Liver disease is

often associated.

Synonyms: Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic

Cirrhosis, Alpers Progressive Infantile Poliodystrophy, Poliodystrophia

Cerebri Progressiva, Progressive Poliodystrophy

Signs and Symptoms: Characteristic features include motor retardation,

partial paralysis, spasticity, myoclonus, liver damage, blindness, and growth

retardation. Intractable seizures and progressive mental deterioration may

also occur. Symptoms of this disease may be intensified by stress or other

illnesses. Etology: the cause is unknown in most cases. A familial form has

been identified. Males and females are affected equally.

Related Disorders: Leigh Disease; Batten Disease;Tay-Sachs Disease

For more info on Alpers Disease: National Organization for Rare Disorders

(NORD)

Association for

Neurometabolic Disorders

Children's Brain Diseases

Foundation for Research

National Institute of

Neurological Disorders and

Stroke. (NIH)

[Guest guest]

Hi Melody,

Thanks for the note. I have found Alpers Syndrome and read the

information on the disease. I just read your account of and

her battle with this. It is obvious that you have done a wonderful

job taking care of . I stand in awe of the wonderful Mom's on

this list and their ability to stand tall in difficult places and do

all that's necessary for their children.

Thank you so much for your wonderful encouragement to other moms on

this list. Just taking the time to do this is an act of giving.

Alice

[Guest guest]

Hello Anne! was jaundiced when her liver condition was first recognized, it seemed to happen overnight. Her platelet count got as low as 8,000, her PT/PTT was greater than 200, and her liver enzymes (ALT, GGT, AST (?))) were very abnormal. They began giving her Vitamin K (Mephyton) injections, fresh frozen plasma, platelets, and red blood cells and she finally stabilized. She is considered to be in end stage liver disease also and has been for about 3 years. She has had bouts of ascites where her abdomen swells to about 70 cm. She only weighs 34 lbs. and is now 8 yrs. old and her girth is normally around 54 cm. Her albumin level drops periodically and this causes the ascites. She also has generalized swelling, hands, legs, feet, and face when this occurs. Her GI doctor treats this by admitting her overnight for an albumin transfusion followed with IV Lasix. This has always worked in the past.

We have tried CoQ10, Carnitor, and Vit.E, but as far as the liver function, the Vitamin K helps the most. She was on 2 -5mg tabs a day until last year, then her doctor switched her to 3 IM injections per week. She was having so many bleeding episodes (lower GI tract, from her lungs, lips and gums). Her doctor feels she has absorption problems and the injections seem to work better. No major bleeds in a year now. Her platelet count remains 20,000 to 40,000 on average. She has not been jaundiced since that first episode in 1994. Her bilirubin is usually within normal range. An ultrasound of 's liver revealed it has atrophied and at times her spleen enlarges so much that it protrudes.

We haven't had another biopsy...mainly because anesthesia is such an issue since her breathing is so compromised as well as the clotting problems. Her doctor feels it's too big of a risk for any type of surgery.

I've never heard of plasmophoeresis. I would be interested in knowing more about it. Lately has begun to have very concentrated urine, with what appears to be a type of sludge in it. Has your son ever done this? If so, what did the doctor say it was? has repeatedly surprised and confused her doctors. She is a little fighter and has not done like they thought she would. A lot of people have died in better condition than she is at times. We don't know the answer...we just love her very much and feel only God has the answer. There are many times this year that she appears to be in pain and her GI doctor has prescribed Demerol. We use it several times a week. Because of her neurological status, it's really hard to tell what is wrong, but she grimaces and draws her knees up to her abdomen.

She has very dry, peely skin after a bath...and we're told this is another condition of liver disease. Her bones have also become brittle and she had a fracture a couple of years ago. I understand this is from the malabsorption caused by liver disease as well as immobility.

Your questions are in no way obtrusive. I have found several people with children with Alpers disease, but none have the liver involvement that has. I have wanted to find someone to talk about this with also. Feel free to ask any thing you want, I'll be glad to help all that I can. You may email me privately if you wish.

Sincerely,

Melody

PS We've never seen Dr. Shoffner, but 's neurologist recently ordered a Mito DNA blood test that he sent to Dr. Shoffner in Atlanta, but we don't have the results yet. She has an appointment June 18.

Anne K Juhlmann wrote:

Melody, what do you do for the liver failure? do you give CoQ10 or Vit E or acetylcysteine and if so do you feel that it has helped stop the liver failure from progressing as fast as you were told it would? Have you re biopsied since she was young and do you know if the liver damage has progressed further. It seems miraculous that she is still alive and stable after you were told she had such a poor prognosis!!!!

Can I also ask if your daughter is jaundiced? I ask because my son in end stage liver disease is not jaundiced at all - his total bili is only 0.5 Our doctor was told by Dr. Shoffner that this is typical for a mito liver failure because it is an issue of cellular energetics and that he will not necessarily every get jaundiced. He has other signs of end stage such as portal hypertension and bleeding issues and of course elevated ALT and GGT but it just seems so odd to me that he is not yellow. Just wondering f it is the same for your child.

has anyone ever talked to you about doing plasmophoeresis to get rid of the toxins that the liver can not et rid of anymore. Our doc is interested in this although we are afraid that it might not be able to be done without putting in a dialysis catheter and access is an issue for Sam.

If my questions are too intrusive forgive me please. It just seems there are so few people who have children with severe liver failure and I feel so confused at what the words end stage liver disease really mean for us.

Anne

Re: Need info on Alpers disease

Hello Sharon. My daughter, , was diagnosed with Alpers disease in November 1994. She just turned 8 yrs. old. in May. She was given a poor prognosis and we went home from ICU in Dec. 1994 with hospice care. Her progression was rapid at first, but then seemed to slow down. She continues to have 20-40 seizures per day, is now quadriplegic, O2 & Bipap dependent, cortically blind, ng tube fed, has severe cirrhosis of the liver and diffuse atrophy of the gray matter of her brain. She was a full term baby 8lb 3oz, healthy and typical for the first year of her life reaching all milestones at or above target. She began having status epilepticus at age 11 mos. after undergoing middle ear surgery (tubes). has only had one muscle biopsy and it was supposedly normal. She recently had a Mito DNA blood test that we haven't received the results on. Other diseases ruled out have been Batten's, Rett's, Leigh's, Rasmussen's encephalitis and Menkes. A liver biopsy and obvious liver failure at age 15months confirmed cirrhosis. I would be glad to share information with you. Feel free to email me personally. Sincerely, Melody lamor32twigs@... wrote: is off Tuesday to UCSD for inpatient testing and confirmation of her diagnosis.We have previously had a frozen muscle biopsy done that was read as being Mito DNA depletion syndrome.Dr. Naviaux just called me from UCSD to tell me he is sure she has Alpers disease. We will do all the confirming tests when we are there including a repeat muscle biopsy.I am now desperately searching for information on this. Of course, I am both anxious to really know for sure, but saddened over this diagnosis. I would love to hear from anyone who has a child with this, or information on this disease.Thanks,Sharon Whttp://www.umdf.org/support/listpolicy.html - please contact mito-owner with any problems or questions.

[Guest guest]

Melody, your sounds like a very, very special girl who has had to deal with much more than her share of pain and worry. God bless her and you, too. Good luck with the further workup you are having done.

Virginia, Emma's Mom (21 months, Complex I)

Virginia M. Buchanan

[Guest guest]

Anne,

Just FYI, my son and I flew to San Diego to see Dr Haas and Dr Navious in March and they also suspect my son has Alpers. The results should be back this week. (You know how that goes!) I'll let you know when we get the results. (my son) has had one biopsy done in Atlanta in Aug of 98 and we know he has mito but not specifically which one because all Complex's were abnormal. is 5 and has about 20 myoclonic jerk seizures per day, not mobile, no speech, cognitively severly delayed, fundo, severe constipation, etc. Also, the happiest kid you'd ever meet and the sweetest!~!

Heidi Harmon

Mom to

602 S 16th Ave

Greenwood, Mo. 64034

(816)537-5586

Bzyheidi1@...

[Guest guest]

Heidi, My daughter, , was diagnosed with Alpers Disease in 1994, basically by process of elimination and her symptoms fit. We were told at that time there was no test for Alpers. Her muscle biopsy was normal. You are the second person on this list that has recently mention UCSD and Dr. Navioux and that there is a "test" specifically for Alpers. Could you tell me more about this? This is wonderful news to me and will put an end to a lot of our unanswered questions. So far, we've been told no gene has been identified for Alpers so there is no specific test and this is thought to be autosomal recessive inheritance, but that isn't known for certain either. Our doctor may not be up-to-date on the latest information and we have a routine appointment on Monday, June 18. I would like to ask him about this.

Thanks!!

Melody

bzyheidi1@... wrote: Anne, Just FYI, my son and I flew to San Diego to see Dr Haas and Dr Navious in March and they also suspect my son has Alpers. The results should be back this week. (You know how that goes!) I'll let you know when we get the results. (my son) has had one biopsy done in Atlanta in Aug of 98 and we know he has mito but not specifically which one because all Complex's were abnormal. is 5 and has about 20 myoclonic jerk seizures per day, not mobile, no speech, cognitively severly delayed, fundo, severe constipation, etc. Also, the happiest kid you'd ever meet and the sweetest!~! Heidi Harmon Mom to 602 S 16th Ave Greenwood, Mo. 64034 (816)537-5586 Bzyheidi1@... http://www.umdf.org/support/listpolicy.html - please contact mito-owner with any problems or questions.

[Guest guest]

Hi Sharon,

I wish I could find something positive to say about Alpers, however

all I can tell you is that our little boy, Isaac died last October

aged 21 months and the doctors suspect that he had Alpers. I say

suspect because as it was explained to me it is a difficult condition

to diagnose in life and it was not mentioned to us while Isaac was

alive. The doctors thought that he had a mitochondrial disease,

however the muscle biopsy that we had did not indicate which

specifice part of the mitochondria was not funtioning. His post

mortem showed " severe neuron depletion " and his brain looked " classic

Alpers " accourding to our neurologist, however his liver was OK, and

so this has confused the issue. Another doctor (at Great Ormond

Street in London) has been asked to review things, he's called

Harding and is suposedly an Alpers expert. My hope now is that

something can be learned from Isaac's " unique " simptoms that might

help other sufferers.

I've been told (as I think Molody has posted) that it's automominal

recessive (probably!), so we'd have a one in four chance of having

another affected baby. Isaac has a twin sister who is healthy (they

were IVF babies).

Isaac was developmentally delayed, but made continual progress

throughout his life, only much slower than other children, he'd just

learned to roll right over a couple of months before he died. He was

a beautiful little boy with a smile that melted every heart. He had

always had difficulty feeding and this first highlighted his

problems, however at around 4 months he started to have infantile

spasms. He was " diagnosed " at around 6 months old and the epilepsy

was controlled at about 10 months after trying lots of drugs. Epilim

eventually controlled the seizures(despite the link with liver

failure, we felt that the benefits outweighed the risks). He had a

gastrostomy and was completely tube fed after about 1 year.

He died in PICU after being on a ventilator for a month, he's had a

slight cold but did not shrug it off and he then started having

breathing difficulties. He'd had a brain scan (MRI)at about 6 months

and a subsequent brian scan showed " atrophy " . He had problems with

fluid building up around his heart and lungs. Sometimes I look back

and think that I should not have bothered taking him into hospital

and he would have had a more comfortable time at home, however we

didn't expect that particular hospital stay to be the final one, and

there is comfort in knowing that everything that could have been done

for him was done.

As you'll have guessed we live in England, so things are a bit

different here, on the one had all health care, therapy etc. is free,

on the other hand you wait longer to see people. We're still waiting

for the final post mortem report, however I don't feel in a hurry to

close the book on this chapter, so don't mind waiting. If we learn

any more then I'll let you know.

If anyone has any questions then I'll gladly answer them if I can.

Love to you all,

Trudy