A little bit after starting this blog, I was contacted by a friend that I had lost contact with after university.
Through Facebook, my friend was able to read my blog. She contacted me to tell me that it touched her heart and hit very close to home as her daughter also was born with a rare condition.
So, this post is in honour of her little girl who was born with micropthalmia.
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. This condition may result in significant loss of vision. People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.
How common is microphthalmia?
Microphthalmia occurs in approximately 1 in 10,000 individuals.
How do people inherit microphthalmia?
Isolated microphthalmia is sometimes inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In some cases, parents of affected individuals have less severe eye abnormalities.
When microphthalmia occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition, which may be autosomal recessive or other patterns.
Often microphthalmia is not inherited, and there is only one affected individual in a family.
There is no treatment for severe anophthalmia or microphthalmia that will create a new eye or restore vision. However, some less severe forms of microphthalmia may benefit from medical or surgical treatments. Children can be fitted for a prosthetic (artificial) eye for cosmetic purposes and to promote socket growth. A newborn with anophthalmia or microphthalmia will need to visit several eye care professionals, including those who specialize in pediatrics, vitreoretinal disease, orbital and oculoplastic surgery, ophthalmic genetics, and prosthetic devices for the eye. Each specialist can provide information and possible treatments resulting in the best care for the child and family. The specialist in prosthetic diseases for the eye will make conformers, plastic structures that help support the face and encourage the eye socket to grow. As the face develops, new conformers will need to be made. A child with anophthalmia may also need to use expanders in addition to conformers to further enlarge the eye socket. Once the face is fully developed, prosthetic eyes can be made and placed. Prosthetic eyes will not restore vision. (Information provided by Genetics Home Reference)
There are over 7, 000 rare diseases globally! 1 out of every 10 people have a rare condition. Yet most of attention is given to cancer and heart disease and diabetes--and for good reason!
But there are a lot of other conditions out there that need attention too!
Attention and Awareness is the only way that doctors will start and continue to research, to look for cures, that pharmaceutical companies will start to conduct trials for life-saving medications, that us "Rare" folk will get the quality of life we deserve!
I love a "rare girl" more than words! For Alexa and all her UCD brothers and sisters, don't let those rare conditions get buried!
"Our dream is for a cure, and we can't rest until we find it" (NUCDF)