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Well, this is the blog I have been ready to write, yet not as ready as I thought I was. We got the Nemour's Children's Clinc's results the other day. We have been discussing what we want to do next and the path we want to take; therefore, I wanted to wait just a little while before I wrote this so that Stoker and I were on the same page of things. We received a call last week from the genetics floor's receptionist to schedule an appointment for what was suppose to be this Tuesday. (We had to reschedule that for June12). After getting off of the phone I called the genetic counselor to see why the appointment was made. We were told that any further testing could be done here. She said that they have decided to go ahead with the diagnosis of Hypochrondroplasia. We need to come to go over the details, get the literature on it, discuss what his future holds, any further treatments, etc. Stoker and I have been discussing and praying about our response to this. Neither of us feel very comfortable with their decision to diagnose him right now. One of the key factors to all of this was his blood test being negative. They told us that due to that, the best option would be to send his films to a specialist. This was not done. Nor was a second screening of the blood done in order to see if there was an error. There was an error done somewhere! The other possibility is that he has a gene mutation that hasn't been seen before. In my opinion, and it's not medical, I feel like if he had this new gene mutation somewhere in all of this they'd be trying to locate the mutation and document it and look over him for his symptoms (which are not very typical with what I have been reading in my research), and no one has even said a word to us about this. I would be the first to say, and stand by saying it, that I am a little more concerned about someone's eyes than I am about the blood test. And I will be the first to swallow crow if I am wrong! Let it be said that Stoker and I are not avoiding our son being 'labled'. If he has hypo. then we want to know about it, know everything we can, and allow our son the best life we can give him with whatever this condition includes. We in no way want to debilitate him, and he will have plenty of step-stools to get his own bowl or plate, but we want to be compassionate to his physical/psychological needs as well. We know that whatever is or isn't wrong (if you want to call it wrong since it isn't 'normal') with him is how the Lord made him and gave him to us, he is our son and no matter what he is or isn't, we love him more than we ever thought possible!!!! We just don't want him diagnosed with something he doesn't have and later on have to go throught lots of complications to get the diagnosis reversed. I also don't want something else to be wrong and not know about it, especially if that something will have far worse side-effects than what we are facing now. Hypochrondrplasia is the condition to be diagnosed with if you had to choose from all the ones out there. Trust me, if there weren't all of these alarms going off this would be great news!! But, again, just for cautions sake we will seek a second opinion. Whether it be now, or in a couple of years we aren't sure. But eventually we will try to get all of this straightened out. Thank-you for all of your love and support, and most of all your prayers. We just have to trust that the Lord knows what he has/doesn't have and look to Him for what path to take next. Have a blessed week! ** Feel free to ask any questions, we won't be offended!! |
While we know the radiologist are very well trained and are, I'm sure, great at what they do- it's easier to miss something with your eyes. We will more than likely be seeking a second opinion. We will ask that they don't diagnose him with hypochrondroplasia, and if they have to put something down that they put that it's a possible diagnosis. My research has said that this is not something easy to diagnose in an infant due to the bones changing so much. We would like to wait a few years before seeking the second opinion. By that time he may be fine, or it may be more obvious.
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