We were blessed with our precious baby boy in early April 2004 with no foreknowledge of what was to come.
We had suffered two miscarriages separated by 2 years of infertility and finally became pregnant a third time through IUI (inter-uterine injection). Although they never found an absolute diagnosis for the miscarriages we went ahead and submitted to the advice of our infertility specialist and participated in a regimen of Heparin (blood thinner) injections throughout the pregnancy. This involved two injections a day everyday.
Upon delivery it was immediately noticeable that on of our son’s legs seemed to point straight out to his side at the knee rather than being bent at the typical 90-degree angle that one would expect. When we asked about it our doctor (OB-GYN) said that it was nothing and that it happens sometimes when the baby was breached for a short time in the womb and that it usually straightened itself out in a couple of hours. (He never pointed out any breach positions during the pregnancy).
It only took about 10 minutes in the nursery for us to realize that something else was wrong. As he began to stretch out it was obvious that there was more to it. Rather than the typical ‘fetal position’, he was bent at the waist but rather than his feet pointing to the sky they were up next to his ears and his knees were pointed to the sky. They quickly took him out of the nursery and transferred him to the NICU (neo-natal intensive care unit). Although they would never admit that his legs were the reason that they took him to NICU it was obvious to us that they thought something more dramatic was wrong.
They performed numerous tests, x-rays, an MRI, ultrasounds, and such and finally told us that it appeared that his knees were dislocated and therefore inverted. The following day they informed us that his hips also appeared to be dislocated. They had no explanation as to what might have caused this. They called in a pediatric orthopedist to take a look on day 2 of life. This doctor put him in some different styles of harnesses and casts to see what would work the best. They finally decided on some soft casts from hip to toes on both legs in order to attempt to get the knees to straighten out.
On days 3 and 4 the NICU doctor started to hint that he thought that there may be more wrong than just the dislocations. Although he would never speculate on what it might be he listed different physical features including low-set ears, flat nose, recessed chin, and possible hydrocephalus (swelled head) as possible clues to chromosomal abnormality. They sent DNA test to the lab and told us it would be a couple weeks before the results would be available.
When we pressed the NICU doctor for some clues he mentioned Trisomy 9. One night very late when we were at our son’s bedside we noticed a medical journal open to Trisomy 9 at the nurse’s station. As we quietly thumbed through it we were horrified. The description was just about identical to everything that was available on the internet. We couldn’t find any information anywhere but a few short paragraphs that all listed congenital heart defects, mental retardation, dislocated joints, and muscular-skeletal defects. Not to mention that most estimated life expectancy to be just a few days to a few months at the most if they were born at all. (Due to the congenital organ defects many Trisomy 9 fetus spontaneously abort early in pregnancy). This was the first clue that the dislocations may not have been random.
After waiting a few weeks it was confirmed by a geneticist that our son indeed had Trisomy 9p (see Genetic Info) and that most likely these dislocations were a result of that rather than anything else. The good news was that there were no congenital organ defects as is so common with this syndrome.
Through a series of very blessed events we were finally transferred into the care of a pediatric orthopedic specialist at Scottish Rite Hospital for Crippled Children in Dallas. This organization has been terrific! Through the success of a surgery and many, many therapy sessions our son’s knees have been corrected and are now facing the right direction. So far we have not been as lucky with his hips but he is scheduled for surgery in October which will be followed up by 3 months in a body cast and we are very hopeful that this will finish up the treatment of the orthopedic problems.
With respect to the rest of the possible disabilities there is nothing we can do but wait. Nothing has manifested itself yet but it is very possible (and normal) that they can show up at any time. Until then we will just love him in every possible way and thank God for every minute. We try to be very observant of his progress compared to the well-known growth and progress charts in order to identify the need for physical therapy, occupational therapy, or speech therapy if it becomes necessary.
We wanted to make this website available to people like us who can find nothing but negative information out there on this very rare disorder and hopefully give them a little hope as well as some information from someone who is going through the same thing that they may keep the faith and “…run with patience the race that is set before them".
Well, we are now a little over 11 months into this endeavor and we love our little bundle of joy more than ever! We have been through a hip surgery that luckily found one hip already stable and manually placed the other hip. He came out of that with a body cast from his chest to his ankles for 6 weeks. That was followed by more anesthesia for the cast removal and a new body cast that only extended to the top of the knees. This was expected to last another 6 weeks but was cut short to about 4 weeks. Though that was a welcome surprise we were disappointed to learn that he still needed a brace for 18 hours a day. At least this one was removable allowing time for play and baths. He still remains in the brace 18 hours a day but we hope to lessen it to sleeping hours only or possibly even complete removal in another month or so.
All this time spent in the casts and braces have left him gross motor delayed to an extent but we cannot quite tell if it is due simply to the immobility or the syndrome or both. This is a common symptom of the syndrome so we are sure that it is at play here at least somewhat.
His knees have done very well since the therapy enabled them to reduce (bend) in the proper direction. He loves to kick at bath time and splash the water out of the tub. It doesn’t appear as if there will be any long term affects of the dislocations but we will not know for sure until he attempts to walk.
Check out ‘what to expect’ for more specifics of his progress.
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Last Updated ( Thursday, 17 March 2005 )
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Our Story 
