Well Addy seems to be on the up and up from our scary experience 2 weeks ago. We are awaiting an MRI of her brain this Thursday. She will have to be sedated for it because it requires lying still for 45 minutes. Hoping that it might bring about some answers, but at the same time praying for it to be normal. After another conversation with her pediatrician, she mentioned that it was possible that Addy had an undetected infection that could have swelled her brain, particularly in the speech processing area. The swelling could have been enough to bring on the seizure and the speech issues, while the infection could have been the cause for the fever, thirstiness, tiredness, etc. It definitely makes sense, but we may never know.
The odd part about the speech is that by last Friday, the stuttering had all but ceased. I might have heard it slightly here and there, but nothing real noticeable. Each day that went by since the last time we ended up in the hospital, we noticed it seemed to get better. That is puzzling. But, the infection and swelling of the brain scenario would make sense. Until today.....the stuttering is back! We just can't seem to figure this out.
And the medical mystery continues.............
This week I took Addison to see a new doctor. I had this appointment scheduled since last year. Dr. Dabrowski (Physical Medicine and Rehabilitation doc) was a doctor that I had wanted to see since Addy was born and we were seeking out some answers. However, he's a very difficult doctor to get in to and at the time I was impatient, wanted answers and didn't want to wait to get it to see him. So, we took a different route. Now, after almost three years, I decided it was time and I was going to wait as long as I needed to.
The thing about Dr. Dabrowski is that not only is he an awsome doctor, but he loves mystery cases and he will do whatever it takes to find the answers. Many of the students in my classroom have seen him over the years and he has helped to diagnose many of them, even some of the most difficult cases.
I left the appointment just kicking myself for not seeing him sooner. I have always had this nagging feeling ever sense Addy was diagnosed with Arthrogryposis, that maybe, just maybe it wasn't the right diagnosis and how will we ever know? Dr. Dabrowski is very intrigued with Addy and is going to work hard to seek out right answer.
At this point, he is not saying that she doesn't have Arthrogryposis as she does have many features that are Arthrogrypodic looking, but he feels like there could be more. At first glance he feels that whatever she has is a syndrome or condition driven by the central nervous system or spinal driven. He was a little baffled that numerous tests such as a spinal MRI or a full look at her body had never been done. He was thrilled that we will be seeing neurology in early April, because he feels like neurology might be the key player in figuring out what is going on. Some of the syndromes he is looking at are: osteogenesis imperfecta, sprengels syndrome, skeletal dysplagia, congenital anomaly, developmental delay, hypotonia. Several of these terms are very broad, but he listed everything that he felt could end up being a term to describe what is going on.
So, our next step is a full spinal MRI at the end of the month as well as a skeletal survey. The spinal MRI will take an hour and a half and so is was not possible to have it done on the same day as the brain MRI as they don't like to keep kids sedated for that long. The skeletal survey will be done this Thursday following the MRI of the brain. We will then follow up with neurology in April and we will see Dr. Dabrowski back in June.
I am excited about this, but also nervous at the same time. Excited that we might discover some more answers, but scared about what exactly those answers might be. And again I kick myself for waiting so long. I am hoping and praying that this baby growing inside of me will not carry on any of what these answers might possibly be. Since many of them very well could be genetic.
Speaking of genetic, we have a visit with genetics this week and Dr. Dabrowski was going to talk with our geneticist ahead of time about some of these syndromes for another opinion when we go. Lots going on lately and my head is spinning just trying to remember and keep it all straight.
Also in the meantime, Dr. Dabrowski would like Addy to be fitted for a DMO (dynamic movement orthosis). This will be a very tight fitting suit that can be snugged up in the areas in which Addy needs the most support. Mainly for her it will be in her shoulder and trunk area. This suit will be worn under her clothes. It is very new and currently is being made in England and Dr. Dabrowski is working very closely with those who invented it. The only downfall is that it makes you sweat a lot. Addy has always been a sweater since the day she was born, so we will see how this goes with summer on the way.
Aside from everything else that has been going on, Addy got her new orthopedic stroller this week. She has just about outgrown the toddler stroller she has and we knew that she was going to need something long term for distances. I also needed a stroller that I could transport the walker on so when we go places, Addy will have both means of mobility. The stroller has tie downs as well should she ever need it on the bus when she goes off to school next year. She was very excited about it and so far on our one excursion out to the mall it seemed to work well. Here are some pics. I will continue to keep everyone updated as we get answers.