Newborn Screening for Menkes Disease in the UK
The Issue
We need to get 100,000 signatures to get this petition into the right hands so that we can add Menkes disease to the Newborn screening tests that are already carried out all over the country. Adding this to the Newborn screening tests could potentially be the difference between life and death for infants diagnosed with Menkes Disease.
Menkes disease (MD) is an inherited X-linked recessive disorder that affects many systems in the body. Affected infants are often born prematurely and may have non-specific symptoms such as hypothermia, hypoglycemia, and prolonged jaundice. One obvious and specific physical sign is “steely” or “kinky” hair that usually develops by several months of age. Menkes disease is also associated with seizures, stunted growth, failure to thrive, unstable body temperature, and intellectual disability.
Menkes disease is caused by mutations in the ATP7A gene that is responsible for transport of copper throughout the body. The body uses copper as a cofactor to activate certain enzymes in order to carry out certain functions. When these enzymes are not working normally, serious and fatal effects can ensue over time related to the function of the copper-dependent enzymes that control the development of hair, brain, bones, liver, and arteries. Variants of MD that are caused by mutations in the ATP7A gene but result in less severe symptoms include mild Menkes disease and occipital horn syndrome.
There is no complete cure for Menkes disease at this time, but treatment with parenteral copper histidinate (CuHis) can increase survival and lessen the neurological symptoms if initiated early, within approximately 10 days following birth.
This is why newborn screening for Menkes Disease is paramount to getting treatment before the 10 days of life.
Menkes Disease can be tested for by the same heel prick (blood test) that is already used today in screening so the costs for this test in the UK won’t be as significant of an increase.
Please please sign this petition and get Menkes Disease added to the UK newborn screening test!
Thank you.
Victoria
(Mother to a Menkes Warrior)
Petition Closed
The Issue
We need to get 100,000 signatures to get this petition into the right hands so that we can add Menkes disease to the Newborn screening tests that are already carried out all over the country. Adding this to the Newborn screening tests could potentially be the difference between life and death for infants diagnosed with Menkes Disease.
Menkes disease (MD) is an inherited X-linked recessive disorder that affects many systems in the body. Affected infants are often born prematurely and may have non-specific symptoms such as hypothermia, hypoglycemia, and prolonged jaundice. One obvious and specific physical sign is “steely” or “kinky” hair that usually develops by several months of age. Menkes disease is also associated with seizures, stunted growth, failure to thrive, unstable body temperature, and intellectual disability.
Menkes disease is caused by mutations in the ATP7A gene that is responsible for transport of copper throughout the body. The body uses copper as a cofactor to activate certain enzymes in order to carry out certain functions. When these enzymes are not working normally, serious and fatal effects can ensue over time related to the function of the copper-dependent enzymes that control the development of hair, brain, bones, liver, and arteries. Variants of MD that are caused by mutations in the ATP7A gene but result in less severe symptoms include mild Menkes disease and occipital horn syndrome.
There is no complete cure for Menkes disease at this time, but treatment with parenteral copper histidinate (CuHis) can increase survival and lessen the neurological symptoms if initiated early, within approximately 10 days following birth.
This is why newborn screening for Menkes Disease is paramount to getting treatment before the 10 days of life.
Menkes Disease can be tested for by the same heel prick (blood test) that is already used today in screening so the costs for this test in the UK won’t be as significant of an increase.
Please please sign this petition and get Menkes Disease added to the UK newborn screening test!
Thank you.
Victoria
(Mother to a Menkes Warrior)
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Petition created on 30 June 2020