Medical Update

We've had quite a few drs appointments, tests, etc these past few weeks and finally got some results back
Firstly the GI dr called with the results to Ryan's upper endoscopy. Thankfully he doesn't have Eosinophilic Esophagitis but he does have reflux esophagitis as he has significant inflammation in his esophagus. We have doubled his reflux meds and if he doesn't seem to be getting relief from the increase we will talk about doing a gastric emptying scan to check for slow motility.

We had a follow up appointment with Ryan's pediatrician to check if all was ok after the hospital stay. He wants him to continue on pulmicort for a month and then redo the chest xray.

The results from our trip the Johns Hopkins are finally back in and ...... drum roll please ....... all are normal! I cant say I'm too surprised. To be honest I don't know what to feel, I don't know what to think. Although the dr at JH did the latest , greatest genetic tests on Ryan I had a feeling nothing would show up. I'm kind of annoyed i was right. That probably sounds a little weird if you haven't had a kid in the "undiagnosed" category but believe me, although you pray the tests never find anything, and what we are testing for at this point are some pretty awful diseases with no treatments, theres still a part of you that really really needs an answer. Of course alot of parents with kids with special needs after some time put testing on hold and come to a place of peace with being undiagnosed, but to get to that peace you have to find acceptance, and I'm just not there yet. I cant accept that medical science cant find a reason for Ryan's delays, and I don't know why my brain wont allow that. I guess its because the alternative might be that I did something to cause this. Intellectually I know that's probably not the case but its always something in the back of my mind. I guess in a way the search for answers might be rooted in a more selfish cause, in that it might let me off the hook somewhat although i truly know there was nothing I did on purpose to cause any of Ryan's delays. Theres also the other medical stuff going on with Ryan. A diagnosis could help us figure some of that stuff out. Give us an idea of what we are dealing with. A diagnosis might also actually help Ryan get the help he needs in terms out outside therapies and medical equipment that is not covered by our insurance company. Another reason why I cant give up looking, not yet anyway. So we will continue on and do the MRI and spinal tap.

The genetics counselor also mentioned how Ryan would be a candidate for Genome sequencing, basically a test that that looks at the complete breakdown of a persons DNA. Johns Hopkins are hoping to have this clinically available within their genetics department within the year.

In other "medical" news Ryan is struggling with the cold this winter far more than before. He regularly has a pale, colorless pallor and his hands are really cold more often than not, even when hes in the house. We have also noticed bluing around his lips and eyes quite occasionally. Its hard to tell what all this is from, probably a response to a whacky autonomic system but we are having to be really careful with the temperature of his environment this winter and unfortunately snow tubing with friends this weekend was out of the question although Ryan would probably have loved it.


laurelsmom said…
We are in the same boat. All of our recent testing came back normal as well. Is it possible to say "Yay" and "well, hell" at the same time?
It is a bittersweet feeling to have test come back normal. I can completely relate. Four years have gone by and all the doctors can tell me is hypotonic cerebral palsy. Do I sometimes think there is more to it? Yes. I spent a lot of our early years wondering and hoping for answer. I thought about going to John Hopkins as well but just like you I know they will not find anything. For, now we are at peace with the unknown. I don't know how long it will last but we are.

I just wish we could make it better for all the special needs mamas out there.
Erin Mitchell said…
We too are in the same boat and it is so tough. Just last week, our OT mentioned yet another syndrome that she felt Billy should be tested for. We are requesting it. I was of course praying that it would have been already covered by the endless tests we have already ran, but no. And as much as I want answers and explanations and some information about what our future holds, I am scared out of my mind that my son has this syndrome. It is just so scary. The unknowns are so scary and yet some of the answers might be too. It is just all so tough.

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