Since this blog is dedicated to keeping loved ones up-to-date on the medical status of our little jaider-bug, we would like to post some recent updates.
Yesterday was Jaidin's 9th eye procedure. Things are looking good. The pressure in her left eye is still higher than we want (20), but, it has not gone up since her last procedure. So, as long as we are maintaining and not increasing, her doctors are happy for now. Her right eye is at a 10, which is exactly where we want it to be.
Also, we got the results back from our most recent genetics test. It turns out that our little one has a syndrome called oculodentodigital dysplasia (oddd for short). It is an extremely rare condition, with only approximately 244 cases ever known. That's an incidence rate of one affected person in 12 million people. (For comparison, autism affects about 1 in 500 people & down syndrome affects about 1 in 900 people).
Here is a little summary of the condition: (you can skip this if it looks like too long of a read; it's just a little fyi on the condition).
Oculodentodigital dysplasia is a condition that affects many parts of the body; most notably the eyes (oculo-), teeth (dento-), and fingers (digital). Common features in people with this condition are small eyes (microphthalmia), distortions of the pupil, and other eye abnormalities that can lead to vision loss. Iris atrophy, glaucoma, and epicanthal folds are very common. The size of the eyes often interferes with learning to read and special eyeglasses are usually required. Affected individuals also frequently have tooth abnormalities, such as small or missing teeth, weak enamel, multiple cavities, and early tooth loss. Other common features of this condition include a long, thin nose, and webbing of the skin (syndactyly) of the fingers.
Other features of oculodentodigital dysplasia include sparse hair growth (hypotrichosis); hair that may be fine, thin, dry, or fragile; brittle nails; unusual curvature of the fingers (camptodactyly); syndactyly of the toes; small head size (microcephaly); and openings in the mouth (cleft palate, lips, or gums). Cardiac anomalies, including arrhythmias, murmurs, or congenital malformations (ventricular septal defect) are common in people with ODDD. Some affected individuals experience neurological problems such as a lack of bladder or bowel control, difficulty coordinating movements (ataxia), abnormal muscle stiffness (spasticity), hearing loss, and impaired speech (dysarthria). Other neurological problems include abnormal white matter, conductive deafness, and various kinds of paresis, spastic paraplegia, and difficulty controlling the eyes. A few people with oculodentodigital dysplasia also have a skin condition called palmoplantar keratoderma. Palmoplantar keratoderma causes the skin on the palms and the soles of the feet to become thick, scaly, and calloused.
People with ODD syndrome often have a characteristic appearance. Some features of oculodentodigital dysplasia are evident at birth, while many others become apparent with age.
ODD is generally believed to be caused by a mutation in the gene GJA1, which codes for the gap junction protein connexin 43. Slightly different mutations in this gene may explain the different way the condition manifests in different families. Most people inherit this condition from one of their parents, but in rare cases it can arise through novel mutations. The mutation has high penetrance and variable expression, which means that nearly all people with the gene show signs of the condition, but these signs can range from very mild to very obvious.
WELL, I know, it sounds like a lot. BUT!!! We are hoping that our little one has a mild case of the disorder (for her sake). Although she already has many of the symptoms listed, there are some major symptoms (like neurological) that we don't see any signs of. Regardless of what happens and what may come....we are absolutely in LOVE with our little baby! She won us over a long time ago! And of course I think I have the cutest baby in the world!! (what mommy doesn't??)
AND!!! 2.5 weeks down; 3 more weeks to go until baby gets her casts off!!!!!!!!!!!
