An amazing, thorough, kind neuroimmunologist with hope in his eyes...Neuro Appt 4-26
After we received the news that the NMDA receptor antibody was negative, Dr. G's nurse called to schedule an appointment with Dr. G to go more thoroughly through case history, concerns, etc. She was able to get us into an open slot due to a cancellation on Friday.
Dr. G and his nurse came in, greeted Hunter first, and sat down with a big smile and an open ear. He wanted me to review the health history, so I pulled out my now 13 page running document of every illness, procedure, symptom, diagnosis since birth. After highlighting the main points, he told me first and foremost that he is not attached to labels. There was most definitely a biological explanation for what was happening at this moment in time, but labels limit so many factors. He said that even PANDAS, although research has shown this to be a true diagnosis, has behavioral changes that are mediated by the immune system targeting areas of the brain. We can have regression with infections (like the most current one in February), but it can be a non-specific activator. In the area of PANDAS, it is hung up on strep (which is why they are working to change the name to include all viruses/infections that bring about the issues that we have seen with Hunter).
His primary questions were the following: Is there an immune-mediated process actively occurring? If so, is there a pattern to it for an appropriate treatment regimen? After the treatment, how do you measure the success after intervening?
With PANDAS, it is an antibody mediated disease. B Cells and T Cells have to both be involved; when studying it, the researchers can't make it an autoreactive T-cell; therefore, it is not a single mal-wiring (that's where predisposition comes into play). When studying the antibodies, they have never found a reproducible antibody for the basal ganglia, where it is suspected the strep virus travels in the case of PANDAS.
Hunter's Vitiligo intrigued him the most. He said that within these autoimmune disorders, they have found patterning with the Vitiligo. For example, with the NMDA antibody, they have found collections in certain neurons. The Neuroimmunology department at Mayo Clinic are finding antibodies that are binding to cells. They have seen an increased rate of binding when Vitiligo is involved.
I inquired more about the "research" part of it. I didn't want to make him part of a research project if we weren't exactly sure what we were looking for. Dr. G explained the process of attempting to find the binding...they take the neoplastic portions of a mouse brain (really- no joke) and base the slices on the types of behaviors/symptoms we are seeing in our child. Then they take serum from the blood sample (the antibodies live in the serum of our blood) and place it on the slices. They bake it, and then have their experts read the slides and determine if there are any "green dots" left on the slide. The green dots, if visible, often times will have a pattern and they can see exactly where the antibodies are binding. He said that even though he will be manipulating the brain cuts and the placement of the serum, sometimes they are not given a clear picture of the patterning (they might have never seen the type before). With PANDAS, the haven't found the antibody that creates this binding yet. However, often there will be a distinct pattern, and the diagnosis can be made clearly.
Science is amazingly crazy, right?
Dr. G coined a term that I think is absolutely perfect for our current state: he said we were in "diagnostic purgatory." We are hanging out somewhere in the middle with no clear answer.
SO...his plan was to 1) Have a repeat blood draw (which he sincerely apologized for) 2) He would individually direct the slide manipulation at the Mayo clinic and have direct contact with the researcher in charge (supposedly a well-known person, didn't catch the name). 3) They would look for several antibodies in question, and study the binding/patterning 4) God-willing, they would locate the antibody attacking Hunter's body 5) Once he had a measure (typically 14 days from now) he would quantify a treatment (typically something intravenously).
He did tell me that he wouldn't withhold a trial of therapy if the tests all came back negative (which seems to be the pattern in our journey); however, he would have to outweigh the potential gains vs. risks involved, and ultimately, that would be our decisions as Hunter's parents.
He felt that Hunter's case carried an immediate nature to diagnosing the problem due to his age and his frontal lobe development. He said that we have undertaken a "massive investment to sticking to our guns and reinforcement of behaviors within therapy and home life." He sympathized with our situation and told me what he would do as a parent...
"I would continue with this medical journey. There is enough clinical evidence to look for an immune disorder. Antibodies can bind, leading to 1) destruction of cells, or 2) dysfunction of cells. We want to stop the progression now."
Somehow, we have made it to the end. We have found one of 12 pediatric neuroimmunologists who could potentially find the answer to our three year old question. And even though I left the appointment with my head spinning from the vast amount of neurological information and immunological processing, I had the encouragement not only from Dr. G as a professional, but as a parent.
If everything turns out to be normal, I don't think there is another avenue to go. We now have a team of the Neuroimmunologist, Neuropsychologist, Neurologist (specializing in AU), and our BCBA who are combining all areas of expertise to truly figure out an appropriate diagnosis, as well as a treatment regimen. We have found the best of the best- and now our trust must lie in these professionals who will bring us to the end of this journey.
The one thing that remains consistent is our never-ending, never-give-up approach to helping our son. Accepting the diagnosis is one step in grieving; however, not accepting the full limitations and projections is step one in recovery.
("I won't Give Up," Jason Mraz)
When I look into your eyes, it's like watching the night sky, or a beautiful sunrise. Oh there's so much they hold. And just like them old stars. I see that you've come so far, to be right where you are. How old is your soul? Well, I won't give up on us, even if the skies get rough. I'm giving you all my love. I'm still looking up. And I won't give up on us. Cause even the stars they burn, some even fall to the Earth. We got a lot to learn. God knows you're worth it. No I won't give up. I don't wanna be someone who walks away so easily. I'm here to stay and make the difference that I can make. Our differences, they do a lot to teach us how to use the tools and gifts we got; yeah, we got a lot at stake. And in the end , you're still my (son), at least we did intend for us to work, we didn't break; we didn't burn, we had to learn, how to bend, without the world caving in. I had to learn what I got and what I'm not and who I am. I won't give up on us, Even if the skies get rough. I'm giving you all my love, I'm still looking up. Well, I won't give up on us. God knows I'm tough enough, we've got a lot to learn. God knows you're worth it.
http://www.youtube.com/watch?v=TdN5GyTl8K0
Dr. G and his nurse came in, greeted Hunter first, and sat down with a big smile and an open ear. He wanted me to review the health history, so I pulled out my now 13 page running document of every illness, procedure, symptom, diagnosis since birth. After highlighting the main points, he told me first and foremost that he is not attached to labels. There was most definitely a biological explanation for what was happening at this moment in time, but labels limit so many factors. He said that even PANDAS, although research has shown this to be a true diagnosis, has behavioral changes that are mediated by the immune system targeting areas of the brain. We can have regression with infections (like the most current one in February), but it can be a non-specific activator. In the area of PANDAS, it is hung up on strep (which is why they are working to change the name to include all viruses/infections that bring about the issues that we have seen with Hunter).
His primary questions were the following: Is there an immune-mediated process actively occurring? If so, is there a pattern to it for an appropriate treatment regimen? After the treatment, how do you measure the success after intervening?
With PANDAS, it is an antibody mediated disease. B Cells and T Cells have to both be involved; when studying it, the researchers can't make it an autoreactive T-cell; therefore, it is not a single mal-wiring (that's where predisposition comes into play). When studying the antibodies, they have never found a reproducible antibody for the basal ganglia, where it is suspected the strep virus travels in the case of PANDAS.
Hunter's Vitiligo intrigued him the most. He said that within these autoimmune disorders, they have found patterning with the Vitiligo. For example, with the NMDA antibody, they have found collections in certain neurons. The Neuroimmunology department at Mayo Clinic are finding antibodies that are binding to cells. They have seen an increased rate of binding when Vitiligo is involved.
I inquired more about the "research" part of it. I didn't want to make him part of a research project if we weren't exactly sure what we were looking for. Dr. G explained the process of attempting to find the binding...they take the neoplastic portions of a mouse brain (really- no joke) and base the slices on the types of behaviors/symptoms we are seeing in our child. Then they take serum from the blood sample (the antibodies live in the serum of our blood) and place it on the slices. They bake it, and then have their experts read the slides and determine if there are any "green dots" left on the slide. The green dots, if visible, often times will have a pattern and they can see exactly where the antibodies are binding. He said that even though he will be manipulating the brain cuts and the placement of the serum, sometimes they are not given a clear picture of the patterning (they might have never seen the type before). With PANDAS, the haven't found the antibody that creates this binding yet. However, often there will be a distinct pattern, and the diagnosis can be made clearly.
Science is amazingly crazy, right?
Dr. G coined a term that I think is absolutely perfect for our current state: he said we were in "diagnostic purgatory." We are hanging out somewhere in the middle with no clear answer.
SO...his plan was to 1) Have a repeat blood draw (which he sincerely apologized for) 2) He would individually direct the slide manipulation at the Mayo clinic and have direct contact with the researcher in charge (supposedly a well-known person, didn't catch the name). 3) They would look for several antibodies in question, and study the binding/patterning 4) God-willing, they would locate the antibody attacking Hunter's body 5) Once he had a measure (typically 14 days from now) he would quantify a treatment (typically something intravenously).
He did tell me that he wouldn't withhold a trial of therapy if the tests all came back negative (which seems to be the pattern in our journey); however, he would have to outweigh the potential gains vs. risks involved, and ultimately, that would be our decisions as Hunter's parents.
He felt that Hunter's case carried an immediate nature to diagnosing the problem due to his age and his frontal lobe development. He said that we have undertaken a "massive investment to sticking to our guns and reinforcement of behaviors within therapy and home life." He sympathized with our situation and told me what he would do as a parent...
"I would continue with this medical journey. There is enough clinical evidence to look for an immune disorder. Antibodies can bind, leading to 1) destruction of cells, or 2) dysfunction of cells. We want to stop the progression now."
Somehow, we have made it to the end. We have found one of 12 pediatric neuroimmunologists who could potentially find the answer to our three year old question. And even though I left the appointment with my head spinning from the vast amount of neurological information and immunological processing, I had the encouragement not only from Dr. G as a professional, but as a parent.
If everything turns out to be normal, I don't think there is another avenue to go. We now have a team of the Neuroimmunologist, Neuropsychologist, Neurologist (specializing in AU), and our BCBA who are combining all areas of expertise to truly figure out an appropriate diagnosis, as well as a treatment regimen. We have found the best of the best- and now our trust must lie in these professionals who will bring us to the end of this journey.
The one thing that remains consistent is our never-ending, never-give-up approach to helping our son. Accepting the diagnosis is one step in grieving; however, not accepting the full limitations and projections is step one in recovery.
("I won't Give Up," Jason Mraz)
When I look into your eyes, it's like watching the night sky, or a beautiful sunrise. Oh there's so much they hold. And just like them old stars. I see that you've come so far, to be right where you are. How old is your soul? Well, I won't give up on us, even if the skies get rough. I'm giving you all my love. I'm still looking up. And I won't give up on us. Cause even the stars they burn, some even fall to the Earth. We got a lot to learn. God knows you're worth it. No I won't give up. I don't wanna be someone who walks away so easily. I'm here to stay and make the difference that I can make. Our differences, they do a lot to teach us how to use the tools and gifts we got; yeah, we got a lot at stake. And in the end , you're still my (son), at least we did intend for us to work, we didn't break; we didn't burn, we had to learn, how to bend, without the world caving in. I had to learn what I got and what I'm not and who I am. I won't give up on us, Even if the skies get rough. I'm giving you all my love, I'm still looking up. Well, I won't give up on us. God knows I'm tough enough, we've got a lot to learn. God knows you're worth it.
http://www.youtube.com/watch?v=TdN5GyTl8K0
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