An angel in the book of

life wrote down our baby's

birth and whispered as she closed

the book "Too beautiful for Earth"

Author Unknown.



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Info On Alpers'

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What is Alpers' Disease?

How is it Diagnosed?

Why is it Called Alpers' Disease?

Is it Inherited?

Is Prenatal Testing Available?

How Common is it?

Is There Any Treatment?



What Is Alpers' Disease?

     Alpers' disease is a rare, genetically determined disease of the brain that causes progressive degeneration of grey matter in the cerebrum. The first sign of the disease usually begins early in life with convulsions. Your child may or may not have shown some developmental delay prior to the onset of the main disease symptoms, which usually occur within the first few years of life; these may initially involve a loss of previously learnt skills and / or a sudden onset of seizures which are usually very difficult to control. The combination of the severe epilepsy and the on-going brain disease, which is causing the seizures, leads to increasing loss of skills and awareness. The infant often develops some physical stiffness (spasticity) and subtle involuntary movements especially of hands, feet, face and head. Another symptom includes liver problems such as jaundice and cirrhosis that can lead to liver failure. Optic atrophy may also occur, often causing blindness. The course of the disease is usually rapid and eventually the combination of the diseased brain and increasing physical weakness becomes too great to sustain life, and death usually occurs within a year. Parents will be aware of the child’s increasing frailty, and death is usually relatively peaceful and expected when the time comes.   Very rarely older children and teenagers may develop an apparently similar condition called Juvenile Alpers’ Disease, whose course may be more protracted, over very many years. A number of individuals with Alper's disease have mutations in the "polymerase-gama" gene, which results in the depletion of mitochondrial DNA. Researchers suspect that Alpers' disease is sometimes misdiagnosed as childhood jaundice or liver failure.



How Is It Diagnosed?

     Alpers’ disease may be suspected from your child’s symptoms together with an electroencephalogram (EEG) which often shows a distinctive brain-wave pattern.  Alpers can also be detected by specific blood tests and in the later stages of the disease, examining a piece of liver (biopsy).



Why Is It Called Alpers' Disease?

     The condition was first described in 1931 by Dr . Alpers. It is possible that more than one disease was originally categorized as Alpers’ Disease so, to be more specific, the term Progressive Neuronal Degeneration of Childhood with Liver Disease ( PNDC) is also used, as well as Polio dystrophy.



Is It Inherited?

     Yes, Alpers’ Disease is an autosomal recessive disorder; this means that both parents have to be carriers of the disease.  Human beings have about 30 to 40,000 different genes, each of which has a function in making an individual person. The genes are arranged in pairs (one of the pair from each parent) on 23 chromosomes. Inevitably, some of these genes are faulty; a normal gene can overcome a faulty one, but if both genes in the pair are faulty, the genetic instructions cannot work. Most people carry different faulty genes but in Alpers’ Disease (and other recessive conditions) parents, though healthy themselves, carry the same faulty genes, and risk passing them on to their children. Each pregnancy carries a 25 per cent chance of the child being affected.



Is Prenatal Testing Available?

     YES, as a result of modern technology, a couple can go through PGD (pre-implantation for genetic diagnosis), in which only unaffected embryos will be implanted in the woman.  However, you must know what mutations you both are carriers of in order for this testing to be done.  They can also now test the unborn baby through an amniocentesis.



How Common Is It?

     Due to the difficulty in confirming the diagnosis it is not possible to be certain how often Alpers’ Disease occurs but it is likely to affect less than one in every 200,000 people.



Is There Any Treatment?

     Although there is no treatment yet available that can stop the disease, every effort is made to treat the symptoms.  Drugs are given to try to reduce some of the seizures, treat infections and relieve muscle spasm, pain relief and sedative drugs can be given if required and feeding can be assisted.  Physiotherapists and others can advise parents on positioning, seating & exercising the limbs to maintain comfort.  Though not scientifically proven, many children gain some symptomatic relief from the complementary therapies such as cranial osteopathy & massage.



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