At 2 months old our little man Billy was diagnosed with a rare and terminal genetic disease called Menkes Syndrome. Most children with the disease die in infancy. Great ormond street was a fantastic help in finding the diagnosis in Billy and have been a great help all the way through his short lived life and this is why we would like all donations to go to help them do the brilliant job they do and carry on helping other sick children

What is Menkes?

Menkes disease is a fatal illness in which the intestines are unable to absorb copper, depriving the brain and other tissues of this essential mineral. This disease is also known as Menkes Kinky Hair disease and Menkes syndrome.

Who gets it?

Male infants are affected by the disorder.

Females are carriers of the mutated gene.

30% of mutations are spontaneous.

All ethnic groups have been affected.

Disease occurs in 1 in 100,000 to 250,000 live births

 

What are the symptoms?

Variations range from mild to severe.

Distinctive symptoms begin at 2-3 months of age.

Failure to meet developmental milestones

Weak and “floppy” muscles

Seizures

Failure to thrive

Kinky hair (short, sparse, coarse and twisted hair, usually white or gray in color)

Pudgy, rosy cheeks

Irritability

Feeding difficulties

Low body temperature

Pale, pigmented skin color

Sagging facial muscles

Frequent urinary tract infections (UTIs)

Weak and/or brittle bones

Respiratory difficulties

 

What is the prognosis?

The prognosis for individuals with Menkes is poor; death usually occurs within the first decade of life.

Can Menkes be treated?

To date there is no cure for Menkes syndrome other than treating the symptoms with palliative care.

Copper replacements can be initiated - subcutaneously (under the skin), or intramuscularly (in the muscle), or intravenously (in the vein) with mixed results. The earlier treatment is given in the course of the disease, the more positive the results.

 

How are symptoms treated?

Anti-seizure medications

Pain medication

Feeding tube when necessary 

Physical and occupational therapy to maximize potential

 

How is Menkes disease diagnosed?

At birth, affected male babies appear healthy and normal, including their hair. 

When the baby turns 2-3 months old, symptoms become more obvious.

Blood tests will reveal low copper and ceruoplasmin levels.

Copper level in placenta will be high and can be used to diagnose newborns.

Abnormal level of catechol in blood and cerebrospinal fluid, even in a newborn.

Skin biopsy will test copper metabolism.

Microscopic examination of hair will show Menkes abnormalities.

In 70% of cases genetic testing of mother will show a mutation in the ATP7A gene. 

Ultrasound may show bladder diverticula or "out pouching" in most cases.

Thickening of aortic valve will occur in severe cases.

X-ray of the skeleton or skull will indicate wormian-twisted bones and metaphyseal widening.

 

(Source: themenkesfoundation.org)

 

Thank you for taking the time to read this.

Lauren and Lee