Friday, March 8, 2013

3-8 Trisomy 8 Day

We are often asked what is wrong with Noah. When we say he has Trisomy 8, they then ask, "What is that?"  Have you ever wondered the same thing? And was afraid to ask?  Well today is March 8th, Trisomy 8 awareness day.
Noah was diagnosed with Trisomy 8 when he was 15 months old.  After over a year of wondering and many test we got the diagnosis. It was very devastating to hear but, we finally had answers. We look at all the things that could be be wrong with him and then felt very blessed that he had very few if any of the characteristics. So sadly Noah was hit with the double whammy. He also has Cerebral Palsy due to lack of oxygen at birth and no oxygen given to him to help him out.
For more info on Trisomy 8 read below.......
While you are reading, this do me a favor and keep Noah in your prayers. He is having a MRI and CAT scan today. It is our next step to determine if Noah is a good candidate for a cochlear implant.
Trisomy 8 is defined as the presence of three full copies of chromosome 8 in all of a person's cells. Mosaic trisomy 8 describes the situation that occurs when only a portion of these cells contains three copies of chromosome 8, while others contain the usual two copies of that chromosome. For example, people with mosaic trisomy 8 may have cells in their blood and other tissues with the normal chromosome number, but may have cells in their skin with trisomy 8. 
The condition is sometimes also referred to as trisomy 8 mosaicism syndrome (T8mS) and mosaic Warkany syndrome. Common characteristics of T8mS are distinct facial features, including low-set or abnormally shaped ears and a bulbous-tipped nose, eye abnormalities like strabismus and corneal clouding, bone and tissue abnormalities, various structural heart problems, palate abnormalities, hydronephrosis, cryptorchidism, mild to moderate mental delays, and deep hand and feet creases. These characteristics tend to vary widely from person to person. 
Characteristics of T8mS vary. In other chromosome mosaicism conditions, more severe symptoms and a worse prognosis are associated with a larger proportion of cells with an abnormal chromosome number being present. Interestingly, that does not seem to be the case in T8mS. The percentage of cells with trisomy 8 does not appear to correlate with the types of symptoms the affected person experiences.
The creases on the palms and soles of people with T8mS are the most unique characteristic of the condition. On the palms there may be more arches than usual on the fingertips and a single crease running across the palm. The creases are often deep and vertical, with a furrowed appearance, on the soles of the feet.
People with T8mS often have distinct facial characteristics. This can include a wide upturned nose, thicker and down turned lower lip, and low-set and prominent ears that may not be shaped in the usual way. They may also have abnormalities of the palate, including a cleft (opening) or highly arched palate.
Mental retardation can occur with the condition, and the degree of mental delays varies from mild to moderate.
Other findings in T8mS can include those of the bone and tissues. These may be narrow shoulders, absent knee caps, abnormally shaped toes, tighter joints, slender palms, extra or missing ribs, and curving of the spine.
Eye abnormalities are seen in T8mS, and the two most common findings are corneal clouding and strabismus where an eye turns in. These may or may not cause significant vision problems and require treatment. More rare eye problems can include a smaller eye size, smaller eye openings, droopy eyelids, wide-set eyes, tilted optic discs, nearsightedness, retinal abnormalities, and epicanthic folds.
Occasional other characteristics can include structural heart problems, hydronephrosis, underdeveloped genitalia, cancer, and testes that have not descended into the scrotal sacs.

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