So much to update on…where to begin…
I know many have been wondering about what the Genetic testing results were. I mentioned on Facebook that it was too complicated to get into and put into a status. I guess I almost need to start from Halloween morning when Patrick went into the hospital and spent 20 days to bring you up to speed as to why genetics was brought back in. We had not seen Genetics since shortly after Patrick was born.
To make a long story short, the primary reason Patrick went in and stayed in for, was pressure build up in his head. He was very lethargic, no fevers, and had the odd headache. When the ‘hole/soft spot’ in the back of his head started to swell/puff out, well…that was the final indication of the seriousness and that he had to be brought in immediately.
During the course of his 20 day stay, he had many procedures and surgeries done. CT’s, Shunt-o-gram, MRI’s, x-rays, EEG’s, ultrasounds, 4 ICP (Inter-Cranial Pressure) monitors…and 2 other surgeries as well were just a few of the things he went through during his stay. The 4 ICP monitors and the 2 other surgeries all happened within a 7 day period.
It had been 6 years since his previous hospital stay, the longest time span between stays since he had been born. This was the 3rd time with pressure issues, but was the worst and most serious. The Neurosurgeon told us that this pressure had been building over a period of time, and his brain miraculously had been accommodating the build up as it had seemed to be gradual. Had the pressures he had in his head built up in a much shorter period of time or instantly, they would have been lethal to you or I! Normal pressures range between 7 – 15ish, some possibly up to 20. Patrick’s pressures ranged from 30 – 90 at times!
Of course, Patrick being Patrick has never been text book. He’s been writing his own chapters AND books since birth. I found out a couple weeks ago, when I took him for his anesthetic consult, that the nurse had Volume 7 of his chart with her! He puzzles the Doctors, makes them think and even gives them headaches….literally for some as we found out. I had noticed a pattern over the years with his Neurosurgeon and finally mentioned it to her one day while in PCCU (Pediatric Critical Care Unit). Every time she would speak to me/us about Patrick, she would physically scratch her head. Every time! She was quite shocked and surprised to realize she did this, but also went on to explain that whenever she thought about him, being so complicated and trying to figure things out with him and what was wrong throughout different instances in his life, she actually and physically would get a headache! He is such a puzzle! From that point on, she really tried consciously to NOT scratch her head! We got a chuckle out of it. J
Doctors from the following areas were called and consulted with and also had follow-up with him after his stay…Neurosurgery, Plastic Surgery (no follow-up), Nephrology, Neurology (no follow-up), Ophthalmology and Genetics.
I will do another post to explain what all had been done regarding the surgeries and what some of the consequences of the stay were and the follow-up, including the current issues we are dealing with in my next post.
I will get back to Genetics, the reason they were brought in, what they did and the results of the follow-up with them.
Genetics were brought in because no one could figure out why this was happening or what was causing it. They thought perhaps maybe there might be some new and updated information about Patrick’s syndrome that would be helpful to them in figuring this out.
Genetics had good news and bad news. The bad news was that unfortunately there was no further information on Meckel Syndrome. Still practically all who were born with it died in-utero, during or shortly after birth.
The good news was that there was now testing for his syndrome! There are actually 7 different types of Meckel Syndrome now apparently! The testing was being done down in the states. Permission from the appropriate persons and all the government stuff that goes with it had to be done for it to go. Of course I gave ours.
Fast forward to February 2011, I finally get a call from the Genetics office that the results are in and that the Doctor would like to see us in person. I was told it was too complicated to explain over the phone. The next earliest appointment was a month away from that date!!
To be continued…