Monday, April 30, 2012

Menkes Disease


Menkes disease is caused by a defective gene named ATPTA1 that regulates the metabolism of copper in the body. The disease primarily affects male infants. Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidney and intestinal lining. Affected infants may be born prematurely, but appear healthy at birth and develop normally for 6 to 8 weeks.


Floppy muscle tone, seizures, and failure to thrive.  Menkes disease is also characterized by subnormal body temperature and strikingly peculiar hair, which is kinky, colorless or steel-colored, and breaks easily. There is often extensive neurodegeneration in the gray matter of the brain. Arteries in the brain may be twisted with frayed and split inner walls. This can lead to rupture or blockage of the arteries. Weakened bones (osteoporosis) may result in fractures.


Newborn screening for this disorder is not available, and early detection is infrequent because the clinical signs of Menkes disease are subtle in the beginning, the disease is rarely treated early enough to make a significant difference. Recent research sponsored by the NINDS developed a blood test that could be given to newborns at risk for Menkes disease based on a positive family history for the disorder or other indications.

The test measures 4 different chemicals in the blood and, depending upon their levels, can accurately diagnose the presence of Menkes disease before symptoms appear.


Study results showed higher survival rates for children given the earliest copper injection treatment and improved, if not normal. However, damage is usually already done since most children are not diagnosed before or right after birth.

National Institue of Neurological Disorders and Stroke, Eunice Kennedy Shriver National Institute of Child Health and Human Development, The Menkes Foundation

Matthew's Story
I had a normal pregnancy until I was 26 weeks pregnant. At that time, I began going into premature labor frequently. When I was 33 weeks pregnant, I went into labor and had my son, Matthew, on July 31, 2009. He was 4 lbs., 10 oz. and healthy. He was going to be able to leave the hospital with me but he did not know how to suck or swallow and spent two additional weeks in the hospital.

When Matthew came home from the hospital, he did great. Matthew hit all his milestones on time - and even hit some a little early, which is rare for a preemie. Around 10 weeks, he had his first seizure at his babysitter's house. Days later, he got transported to a children's hospital two hours away. He was diagnosed with Dandy-Walker Syndrome with epilepsy and sent home on seizure meds.

We spent the next 3 weeks in and out of the hospital for seizures. We felt like the hospital was not listening to us. We believed there was another problem that was not being addressed. It was almost like Matthew forgot how to do everything he had learned. He had not begun holding his head up before the first seizure and by this point he was about 3 1/2 months old and not even trying to hold it up. We begged our doctor to refer us to Le Bonheur Children's Medical Center in Memphis, TN.

We finally got an appointment with one of their neurologists. Matthew had an EEG but somehow his scheduling got messed up and we had to go back the next day for an MRI. That night, however, we got a call from the neurologist saying he was having seizures almost constantly even when we couldn't tell he was.

After a million tests (or so it felt like) and a little over a week in the hospital, he was unofficially diagnosed with Menkes Disease. A month later, we received the blood test results that were positive.

About 2 months later, we were told he would not live to see his first birthday. He was 6 months old at the time. Now he is almost 3 years old.

Matthew got a G-tube in November 2010 and was put on oxygen in February 2011 but he is still here. He is even in love with his hospice nurse that he has had since Oct. 2010. He is such a joy to all of us. He is our miracle baby.

I made this video about Matthew:

Contributed by MOM Whitney Hamilton - to read more about Matthew check out his Carepage or Facebook

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