Every 6 months, we choose a different charity to support but this time it's a bit different.

We take nominations for the chosen charity for each fundraiser, however, we gave the ownership of choosing the charity to two GDL players; Dave Francis and Steven Brown. Both of these guys have sadly lost their wives in recent times and we have been inspired by their strength in such adversity.

We spoke with Dave and Steven in a group and Dave requested we support the Menkes Foundation.

From Dave:

"Hi guys

The league team I play for is Team Tommy a charity based team raising funds for menkes disease. It’s a disease that kills kids with no cure including our secretary’s grandson. It’s rarely funded so we try hard to raise as much as we can each year & for this small charity that is a lot of money."

Menkes disease, also known as Menkes syndrome or copper transport disorder, is a rare genetic disorder that affects copper metabolism in the body. It is named after John Hans Menkes, the physician who first described the condition in 1962. Menkes disease is inherited in an X-linked recessive manner, meaning it primarily affects males, although rare cases have been reported in females as well.

Caused by mutations in the ATP7A gene, Menkes disease disrupts the body's ability to absorb and distribute copper, an essential mineral for numerous bodily functions. Copper is necessary for the proper functioning of enzymes involved in various processes, including the development of connective tissue, bone growth, and the production of melanin, which gives color to the skin, hair, and eyes.

Infants with Menkes disease typically appear normal at birth, but symptoms start to manifest within the first few months of life. The condition is characterized by distinctive physical features such as sparse, kinky hair, sagging facial muscles, and a particular facial appearance with a prominent forehead and a triangular-shaped face. The disease also affects the nervous system, leading to developmental delays and neurological abnormalities. Seizures, low muscle tone (hypotonia), weak or absent reflexes, and intellectual disability are common features.

Another prominent symptom of Menkes disease is the abnormal accumulation of copper in various tissues, especially in the brain. This copper accumulation contributes to the neurological problems seen in affected individuals. The severity and progression of Menkes disease can vary, ranging from a severe early-onset form with rapid deterioration to a milder form known as the Occipital Horn Syndrome (OHS), which is associated with a better prognosis.

Unfortunately, Menkes disease is a progressive and life-threatening condition. Without treatment, affected children rarely survive beyond early childhood. Early diagnosis is crucial for better management of the disease. Currently, there is no cure for Menkes disease, but treatment primarily focuses on copper supplementation to bypass the defective copper transport system. Intravenous administration of copper histidine has shown some effectiveness in improving the outcomes for individuals with Menkes disease when started early in life. However, even with treatment, the prognosis remains guarded, and affected individuals often face significant developmental and neurological challenges throughout their lives.

It's important to consult with healthcare professionals and genetic counselors for comprehensive information, diagnosis, and management options regarding Menkes disease.

Thanks for taking the time to visit our JustGiving page.

Donating through JustGiving is simple, fast and totally secure. Your details are safe with JustGiving - they'll never sell them on or send unwanted emails. Once you donate, they'll send your money directly to the charity. So it's the most efficient way to donate - saving time and cutting costs for the charity.