A Cautious Approach
We had a longgggg and very productive day at the hospital yesterday! One of the longest days we've had in awhile. We started clinics at 7:15 am and were going strong until nearly 5.
This was the first time the boys had met with a Neurologist and it was a very good visit. I had prepared a bullet point list of all the symptoms, every event and problem each kid has had since birth and it made the visit go so much better than any visit ever has. We had very good Fellows prior to seeing our doctor and they were thorough and well prepared. One of the Fellows came in and turned to me and said, "I understand that you are an amazing historian so I'm excited to learn more about your children." What??! It made me extra glad I was prepared for this appointment.
The more we spoke about each child, especially Spencer, a light went off in my head...all the times we thought he was passing out were actually more like seizures because he had all the tics and shaking in the same way and he never just 'crumpled' to the floor like a person often does passing out, we goes down like timber falling.
They asked the boys to take the same genetic test Shelbie did, which revealed our newest mutation so we will get those results in 3 months. They are cautiously intrigued with Shelbie's results and although they said we can't hang our hat on this just yet, it is definitely shedding a new light on our situation. The clinical picture is strong for this mutation. If the boys also test positive, then they will officially make the diagnosis.
I did notice we switched gears in some significant ways and I can't help but think it's because of this gene. Shelbie had to go for some cardiac tests yesterday which weren't planned and they are also scheduling her for another heart MRI because of the AVM's (venous malformations) they found 6 years ago and all the kids have to see our congenital heart doctor again.
The boys will be back down the first week in December for 72 hour EEGs and some Neuro/Psych testing which will include another full day. They also did a baseline MoCa test which provides baseline screening for dementia.
Shelbie had a series of CT scans which made her really sick because of all the contrast and we will hopefully get those results tonight. I'm mostly worried about the mass in her abdomen.
We got home late last night to a 51 degree house...the gas insert fireplace I've been counting on for heat died while we were gone but I got the furnace fixed today and the guy was awesome and affordable so that's one big hurdle out of the way.
Looking ahead...we have Opthalmology tomorrow because Shelbie's eyes are getting worse and now she's having a hard time seeing. I just got a call from Spencer...He had a fall and thinks he broke all his fingers on left hand and two on his right hand since he has no use of his fingers and he's losing circulation to them due to swelling. I'm waiting for news from the Urgent Care he got himself to.
It's all exhausting but I'm glad we are getting answers and finding our way.
This was the first time the boys had met with a Neurologist and it was a very good visit. I had prepared a bullet point list of all the symptoms, every event and problem each kid has had since birth and it made the visit go so much better than any visit ever has. We had very good Fellows prior to seeing our doctor and they were thorough and well prepared. One of the Fellows came in and turned to me and said, "I understand that you are an amazing historian so I'm excited to learn more about your children." What??! It made me extra glad I was prepared for this appointment.
The more we spoke about each child, especially Spencer, a light went off in my head...all the times we thought he was passing out were actually more like seizures because he had all the tics and shaking in the same way and he never just 'crumpled' to the floor like a person often does passing out, we goes down like timber falling.
They asked the boys to take the same genetic test Shelbie did, which revealed our newest mutation so we will get those results in 3 months. They are cautiously intrigued with Shelbie's results and although they said we can't hang our hat on this just yet, it is definitely shedding a new light on our situation. The clinical picture is strong for this mutation. If the boys also test positive, then they will officially make the diagnosis.
I did notice we switched gears in some significant ways and I can't help but think it's because of this gene. Shelbie had to go for some cardiac tests yesterday which weren't planned and they are also scheduling her for another heart MRI because of the AVM's (venous malformations) they found 6 years ago and all the kids have to see our congenital heart doctor again.
The boys will be back down the first week in December for 72 hour EEGs and some Neuro/Psych testing which will include another full day. They also did a baseline MoCa test which provides baseline screening for dementia.
Shelbie had a series of CT scans which made her really sick because of all the contrast and we will hopefully get those results tonight. I'm mostly worried about the mass in her abdomen.
We got home late last night to a 51 degree house...the gas insert fireplace I've been counting on for heat died while we were gone but I got the furnace fixed today and the guy was awesome and affordable so that's one big hurdle out of the way.
Looking ahead...we have Opthalmology tomorrow because Shelbie's eyes are getting worse and now she's having a hard time seeing. I just got a call from Spencer...He had a fall and thinks he broke all his fingers on left hand and two on his right hand since he has no use of his fingers and he's losing circulation to them due to swelling. I'm waiting for news from the Urgent Care he got himself to.
It's all exhausting but I'm glad we are getting answers and finding our way.
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