Well it just wouldn't be life as we know it without Blake seeing a specialist. I've written before about Blake's fever syndrome. For those who don't know Blake was diagnosed with PFAPA about 2 years ago. PFAPA is a fever syndrome that kids can develop around the age of five. They outgrow it by the age of ten. Blake's started exactly a week after he turned five. He spiked a high fever (probably about 103) with no other symptoms. With it being winter time and cold and flu season we didn't think too much of it and it went away after a couple of days with ibuprofen. A couple weeks later, it was back. Same thing happened. A couple weeks later, the same thing. Growing tired of our new friend Mr. Fever I decided to take Blake to the doctor. We had new insurance so I had to pick a new pediatrician and I chose one that was a younger, newer guy, thinking maybe he would have some hip, fresh ideas as to what the hell was going on. Blake was poked and poked some more by the new doctor with McDreamy hair but nothing could be found. In the mean time the fevers continued. Most of the time they would also bring very enlarged glands in his neck. So large he would have to turn his head to the side to swallow. Every 2nd or 3rd Friday we could expect another fever and another few days of preschool would be missed. Spring came and there was talk of MRI's and leukemia.
We were getting seriously worried. The fevers would totally knock Blake out but he would not have any other symptoms. Then one day a neighbor who did transcription for a children's hospital IM'd me and said, "Hey, I just did this transcription and these people are going through what you guys are going through with Blake. Their daughter has PFAPA." I checked it out and it was Blake to a T! Fevers like clockwork with no other symptoms. I called the doctor's office and spoke to the nurse. She had never heard of it before but would let the doctor know. He sent us to a rheumatologist in Iowa City at the Children's Hospital where Blake was positively diagnosed with PFAPA and was prescribed generic Tagamet (yes, the heart burn medication). He has been fever free since Thanksgiving weekend, 2010.
At his last appointment a few months ago he was taken off of his meds and we were told unless he has another fever between now and his next appointment in October, he will be considered "case closed". At least at that clinic. What the rheumatologist also found is that Blake is very hyper mobile or double jointed. This is not necessarily a problem but it could be and we were referred to a genetics specialist, which is where we went today.
Blake has now been diagnosed with Ehlers Danlos Syndrome--Hypermobility. There are nine different things they check your mobility on. If you are hyper mobile in these areas, you get one point with a possible score of nine (obviously). Blake scored an 8. The concern with Ehlers Danlos is that Blake can be prone to joints popping out of place easily, joint pains, etc. It causes your ligaments and muscles to stretch out and sometimes, with constant stretching they may not "go back" into place.
There are different types of Ehlers Danlos Syndrome and his hyper mobility is the least serious, thank goodness. This will just mean that Blake will need to be extra careful in life. No prolonged periods of hanging from the monkey bars, no wrestling, those kinds of things. He will also need to have an ECHO of his heart taken every year until he reaches adulthood and stops growing. This is because his aorta can also become enlarged, which is obviously not good. Should that happen, however, there are medicines he can take to help treat it and it's also better to know that kind of thing, rather than leave it untreated.
Another thing we found out is that Blake is flat footed, something we've known since he started walking but never really had checked out. This along with the EDS can cause a lot of joint pain for him in his knees, ankles, legs, hips. No flip flops or sandals for Blakey, just good tennis shoes with great arch support.
I am relieved to know finally that he does have this, as his rheumatologist talked about it with us for a while but we couldn't get in to the specialist to get it checked out. I'm sad that this may stop him in the future from doing something he really wants to do and I'm worried that it may cause him problems as he gets older. I'll feel better once we start getting the ECHO's of his heart and can see how that progresses.
