As a parent you always want to give the best for your children. But some very unfortunate mothers and fathers unknowingly pass down hereditary disorders. If you’re expecting you’re first child, you should be aware not just of common disorders, but even of rare conditions that the baby may develop so you can prepare ahead.
Lysosomal Storage Disorders
This is a group of at least 50 diseases that affect the metabolic processes because of enzyme deficiencies. The lysosome is supposed to recycle materials that cells can still use through proteins called enzymes. However, for people with LSD, the buildup of these materials just continue until the cells die.
Hutchinson-Gilford Progeria Syndrome
This disease shows a rapid aging of a person even at a very young age. The child experiences symptoms that an elderly would normally have such as hair loss, loose and wrinkled skin, and joint abnormalities. The child stops growing at some point and will usually have heart and circulation problems by the time he/she is a teen.
Hypertrichosis
Hypertrichosis is the medical term for excessive hair growth on the body. It doesn’t have other complications but the person might experience emotional trauma for having a different appearance. There is no cure for the disease, like most on this list, and even hair removal techniques can only be a temporary relief.
Epidermodysplasia Verruciformis
The person suffers from a chronic infection of human papillomavirus or HPV and has a high risk of developing skin cancer that begins in the tissues. The condition manifests through numerous growths of papules and macules on the hands and feet, body parts which are always exposed to sunlight.
Lesch-Nyhan Syndrome
Most common among males, this condition is characterized by overproduction of uric acid because of the lack of an enzyme to break down purines. It causes arthritis, kidney and bladder stones, involuntary muscle movements, failing of limbs and behavioral problems. An afflicted person tends to injure himself.
Fibrodysplasia Ossificans Progressiva
This connective and muscle tissue disease replaces injured ligaments and tendons with bone. The person grows a second skeleton as a consequence of the body’s faulty mechanism of coping with injuries. More injuries mean that the person will no longer be able to move because the body parts are frozen in place.
Harlequin-Type Ichthyosis
This type of ichthyosis affects newborns. The baby has thick and hard skin that cracks. He/she will also have respiratory problems and will be prone to infection. Thanks to advances in medicine, however, there are adults who have survived childhood through treatment and lifestyle management.
Neurofibromatosis
Tumors form on the nerve tissue causing small pea-sized bumps on the skin all over the body. Another type causes bigger tumors in specific body parts. Most of these tumors are benign and can be removed by surgery and continuous treatment.
People with rare genetic disorders do not get the attention and help they need because they are a minority and are often misunderstood. If you or someone you know needs help and support, there is a charity established in Singapore called the Rare Disorders Society.
