As you can see from the information under Trisomy 9 as well as most of the information available out there on the Web and in various journals there is plenty of negative perspectives and outlooks concerning this syndrome.

So far, with the exception of the orthopedic issues, our son has progressed superbly (5 months at the time of this writing). We are praying and believing that this will continue. While we expect delays in either gross motor skills, fine motor skills, or mental/learning skills (or even all of them), we believe that we will be able to prevail and we are going to do everything in our power to provide him with everything he needs to provide as full of life as possible.

As we progress through life we will use this forum to document the doctor's prognosis as compared to our reality. We hope that this will enlighten our visitors to what is possible and hopefully keep them energized in their pursuit to give their friend/family member all of the love and support possible.

Below we will list the most common symptoms associated with the syndrome and where we stand with regard to them. Please use the forum section to share your experiences with us so that we can start to keep statistics on a larger sample as well. We are convinced that there is a much more optimistic outcome available if only there were more information sharing that side of the situation.

Symptoms:

1. Dislocations - As we have discussed at length in our story, the dislocated knees and hips were the most prevalent symptom that we have experienced so far. Fortunately, although this may be caused by the syndrome it can be treated as a completely isolated occurrence. We are about half way through our treatment and there hasn't been anything so far that would lead the doctors to believe that they a complete recovery is not in the future.
2. Mental retardation - We have nothing pointing to this at this time although we understand that this is something that manifests itself later in life in most instances. ...1 year update... Our geneticist tells us to expect significant developmental delays. Also, we have learned through contacts made from this site that gross motor skills such as walking and talking are to be expected. Most are walking by 4 years of age but we have yet to hear from anyone whose child has developed normal speech patterns.
3. Distinctive malformations of the skull and facial (craniofacial) region - Our son has a distinct flat spot on the back of his head but we have since learned of many non-syndrome babies that have the same sort of malformation. After several MRI's and a consultation with a pediatric neurologist they have determined that the malformation has not affected the brain's size or function in any way. ...1 year update... The flat spot is still there and since he still cannot situp because of the braces and delayed gross motor skills we are not yet sure if it will go away once he stops laying on it so much or not. A follow up MRI at 6 months has confirmed normal brain growth and his head is only in the 50th percentile so this has not been a concern.
4. Hydrocephalus - We were originally told that our son had some hydrocephalus (swelling of the head due to fluid between the brain and skull) but that diagnosis was later dismissed. At birth his first, second, and fourth ventricles (part of the brain that makes spinal fluid and delivers it to the spinal cord) were said to be enlarged causing concern that they could swell at a faster rate than the skull and cause several concerns. At 1 month a follow-up MRI showed that this was not a concern after-all. In the interim we were given a tape measure to measure his head everyday in order to ensure that it was not growing at a rapid pace. ...1 year update... As stated above, his head size is only in the 50th percentile so there are no concerns at this time.
5. Skeletal defects - His pinky fingers on both hands have what one doctor called 'swan-neck deformity'. It is just a ‘crook' at the top knuckle. They advised that this is not necessarily syndrome related and about half the time works itself out during childhood. Otherwise, no other skeletal defects have manifested themselves as of yet.
6. Structural malformations of the heart that are present at birth (congenital heart defects) - This is the largest contributor to why most Trisomy 9 fetuses don't make it full term. Upon admission to NICU, a full range of tests on all the major organs was performed and all were found to be fully operational. From what we could find from the limited information available this is also the largest contributor to the few days-to-few months life expectancy diagnosis. Once it is found that all of the organs are complete and healthy, the outlook regarding the possibility of losing the baby dwindle exponentially.