Hello All.
It has been a while since
my last post. What can I say, it has been a very busy summer. Family
birthdays, reunions, wearing multiple hats at work, all make time fly
by. I'm updating this blog to share some information that may as yet
hold some promise for Lori's unique case. On my links page there is
now a link to a new article published in the New England Journal of
Medicine called Somatic HIF2A
Gain-of-Function
Mutations in Paraganglioma with Polycythemia. I have read the entire
article and it makes for some very scientific reading. There is a
table located in the article that lists the symptoms of the 2
patients with the newly discovered mutation. I have included some of
the symptoms listed, the two patients included in the study and
Lori's symptoms and how they match up. It is my belief this is the
mutation Dr Pacak thought Lori might have when we first went to NIH
in April. Since UH hospitals have yet to provide NIH with any
unstained tumor blocks for genetic testing, we may not know for sure
if Lori has this mutation or not. In part of the article it mentions
how the mutations were isolated. Unfortunately the only way is with
genetic samples of the actual tumors since the mutation was not not
found in DNA from samples of normal tissue. Thanks again UH.
|
|
|
|
|
Patient 1 |
Patient 2 |
Lori |
|
|
|
|
| Age at onset of diagnosed condition |
|
|
|
| Polycythemia |
At birth |
At birth |
6yr |
| Multiple paragangliomas |
14yr |
18yr |
47yr |
| Multiple somatostatinomas |
29 yr |
No |
No |
| Recurrent paragangliomas on imaging |
Yes |
No |
yes |
| Metastatic tumors on imaging No No |
No |
No |
yes |
| Age at onset of clinical characteristics |
|
|
|
| Abnormal redness of the body |
8yr |
At birth |
As long as she can remember |
| Blue feet No |
No |
1yr |
No |
| Red cheeks and lips |
8yr |
At birth |
yes |
| Growth or developmental abnormalities |
No |
No |
No |
| Marfanoid habitus, gothic palate, arachnodactyly |
Yes |
No |
No |
| Cardiac systolic murmur, mild cardiomegaly |
Yes |
No |
yes |
| Dilatation of ascending aorta |
Yes |
No |
Unknown |
| Headache |
14r |
12yr |
As long as she can remember |
| Anxiety attacks |
No |
12yr |
As long as she can remember |
| Palpitations |
14yr |
No |
As long as she can remember |
| Pertinent family history |
No |
No |
Not Yet |
UH
isn't alone in dropping the ball with Lori's case, there are too many
doctors to list. What I can say is that the current state of the
medical profession, from costs to care provided, is definitely in
need of an overhaul. When patents get processed through a doctors
office like burgers through a fast food joint there is definitely
something wrong with the system. I can honestly say at this point I
don't know how to fix it. As for the Obamacare Law I think it sort of
compares to the current state of Major League Baseball. There is no
balance between the teams and MLB's version of revenue sharing”
definitely is not working. Until MLB owners and players agree on a
hard salary cap with revenue sharing like the NFL, baseball will
remain broken. So it is with the government and health care. Until
they can agree, the general public loses like the fans do in
baseball, a substandard product at ourageous prices. Make no mistake,
I am not advocating more government involvement in healthcare. Take
Lori's case for example, she has 3 small hernias along her incisions
from the most recent abdominal surgery. Included with that is a
diagnosis of complex regional pain syndrome from all the nerve damage
done to her abdomen over the years. One of the surgeons who did the
cutting said he would not fix the hernias until Lori had her pain
under control. The pain management doctor indicated she needs a pain
pump surgically inserted near her spine to inject morphine into the
nerves affected. A pain pump however, would prohibit Lori from
getting scanned for the tumors. In addition,the small mesh used to
fix hernias would only get in the way in the event Lori needs to be
opened up in the future to remove the tumors. The end result is Lori
has to to deal with all of it while I try and pick up the pieces, put
on a happy face and pretend like nothing bothers me when I pick up
the phone at work to do my job. As I am one of the thousands of
customer/technical service persons you may interact with on the phone
in the near future, try and remember a “normal hectic” day for
you, simply may not compare to the next person you speak with on the
phone, even if you have had to wait an extended period of time. Since
everyone wants what you want, the “latest and greatest consumer
gadget,” demand will most certainly exceed suppy as it almost
always does. Most of you will have to wait, and there will be nothing
the persons on the other end of the phone will be able to do about
it. Ok, now that I've begun to ramble about my job, its time to wrap
this up. I need my sleep. Until next time, or as Joe Tait used to say
“Have a good night everybody”
