I have survived another trip in to the hell that is driving in Boston. Every trip to and from Children's reminds me of just how much of a "country" girl I am. Boston has too much of everything, first and foremost being people, followed closely by cars, buildings, traffic lights, and idiots that don't know the difference between a walk/don't walk signal.
Something else a visit to Children's always reminds me of is just how lucky we are. Sure, Emily has her medical troubles but, all told, her issues pale in comparison to what other children and parents are dealing with. It is depressing to see really but it sure helps put things in to perspective.
Emily has not had a seizure for coming up on six years and has not been medicated for three. Mostly, she is followed now for the treatment of ADHD/Executive Function Disorder and of course, just to make sure that she isn't having seizures. I have a feeling if, when she had her MRI and genetic testing a number of years ago, the results of both had been normal,we wouldn't have to continue seeing her neurologist and any medication for her other concerns could be handled through her primary care. Because she has two strikes against her so to speak (an abnormality in the frontal lobes of her brain and a genetic mutation in the TSC II gene), she continues to be seen by her neurologist.
Her appointment went well. We (Emily and I) discussed at length her troubles at school. I really felt that Emily should be very much involved with the discussion. Obviously she knows best what is going on and what she thinks is working/not working. I also feel like she is old enough to have a voice in some of the decisions being made about her. I explained to him that the medicine he had prescribed her seemed to help but that it was causing drastic mood swings(more so than what would be consider normal for an almost 13 year old girl anyway). This was confirmed when she stopped taking it and had dramatic improvements in her mood (thankfully it was the kind of medicine that she could take on a more as needed basis so it could be stopped and started without any trouble). He decided that another medicine may work better but said that she would need to have an EKG. This medicine has been known to effect the results of an EKG so it made sense to have a one first to make sure everything was ok to begin with. Given the diagnosis she also has of a "Tuberous Sclerosis-like" condition, an EKG was also warranted because TSC can cause heart problems due to tumor growth. We were able to head right down to cardiology when we were done which was nice. The results of the EKG came back today and were 100 % normal. If I am being honest here, I was slightly concerned that it wouldn't come back ok; not because she had any indication of heart problems but because of the fact that every other test she has had has not come back with good results (MRI's EKG's and genetic testing). It was a nice change of pace for something to come back ok.
When Emily was originally diagnosed with the TSC-like condition, both the geneticist and the head of the TSC Clinic at Childrens had never seen a case like Emily's. The genetic testing, though indicative of something like TSC was not definitive. Her MRI showed a "Neuron Migration Disorder" which was also something similar to what is seen on an MRI of a patient with TSC but not exact. Besides seizures and obvious problems with executive function and attention, she showed no other signs of TSC, such as developmental delay or tumor growth. At the time, the head of the TSC Clinic recommended that he see Emily in a few years to see if anything had changed with her specifically and also to see if he had come across anyone "like her" in the time that has passed. It has actually been more than a few years (5 to be exact) so we made the appointment to meet with him while we were there yesterday. As a side note, there was no surprise here when the director of the TS Clinic at one of the foremost children's hospitals in the world told me that Emily was one of a kind. I knew that already!
So, we have two appointments in October on two different days...one with the director of the TS Clinic and her regular checkup with her neurologist (sadly, we were not able to coordinate it all for the same day).
To end this on a less serious note, while talking with the doctor about the genetic mutation in her TSC II gene, Emily heard the word, "mutation" only and said, "Cool! I am a mutant!"
3 comments:
While things could be worse, like you said ...... I can't imagine the anguish of having a basically undiagnosed issue with your child.
It was very difficult at first. I am definitely a "knowing is 1/2 the battle" kind of person and with her, a lot was sort of unknown. But, I have come to realize that as long as she is ok (which she basically is) then I can live without a firm diagnosis. I've thought about it a lot and a diagnosis doesn't change much really. Her symptoms will be treated with or without a name and that is how I have been able to deal with the not knowing (at least that is what i try to convince myself of). Granted, a diagnosis could help in determining the protocol needed to treat symptoms so it could be beneficial in that sense.
At least you know she is being seen by some of the best doctors in the world at Children's - and you are brave to make the trek in there - since I stopped working in Boston - driving in there scares me to death!
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