New genetic mutations discovered!!!

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”