What type of physician deals with rare diseases

What type of physician deals with rare diseases

http://www.chacha.com/question/what-type-of-physician-deals-with-rare-diseases

*A disease is considered “rare” in the US if it affects fewer than 200,000 people

Related Questions Answered on Y!Answers

disability/ assistance/ HELP?

Q: am a 22 yr old Female, married, 1 child who is 2. I was in pursuit of becoming a RN registered nurse. I have a few health problems, but FINALLY got accepted and now have health insurance. Because of my having health insurance, I got testing done on a few physical issues that were concerning me. I was diagnosed about 1 month ago with pulmonary hypertension by an echocardiogram, heart clots, and holes are ruled out as being a cause(with a transesophageal echocardiogram) and I am now seeing a Pulmonary Hypertension specialist, who did a right heart catheterization on me 2 days ago (which is considered the golden standard of pulmonary hypertension diagnosis,and gives a direct measurement of the actual hypertension range, instead of an estimate like the echocardiogram, and the Transesophageal echocardiogram. My diastolic measurement was 83, which in a healthy persons pulmonary artery should be about 20. I know that my heart on the right side is enlarged due to the pressure build up, I know that it is pushing on that side of my lung, and I know that my prognosis is 10 years OPTIMAL –unless there is a breakthrough in medicine for this rare disease that affects 1 : 1 million people. And for me the cause is unknown which makes my diagnosis, Idiopathic Pulmonary Arterial Hypertension. However, during the right heart catherization I fell into the category of the few with this disease that have a good response to the medication. So because of that my prognosis could be better if I take the medications , and do all I can to improve my condition. The problem is, The medications I need to take to improve this are warfarin(a blood thinner)-very cheap, Viagra(yes,it was originally created for hypertension), but because folks have difficulty getting errections and I need this to LIVE, insurance won’t cover it, and I have to pay $96 for an 8 day supply. I also need to take a medication which I have not yet been prescribed, which will cost between 85-125 THOUSAND dollars a year, depending on the brand, and I know my Insurance company is trying to find reasons to change this… So does anyone know what I should do, or what I am entitled to? the only option I see is going on disability. Other than the money, I have horrible symptoms of fatigue, because oxygen isnt being pumped adequately to the rest of my body, which often causes me to faint as as result of not enough oxygen to my brain, which can be brought on by taking 4 steps, or simply standing up. it causes TONS of other symptoms, not to mention my other health problems prior to this diagnosis. I just dont know what to do because I have to take my meds to live, but can’t afford them, and there’s no way i can work right now due to my physical and mental status, even if I did work, who has over 100 thousand dollars to spend on 1 type of medicine??? If my time is limited I need to use every ounce of energy and muster up any happiness left to shed on my 2 year old and the rest of my family who are hurting. I have seen people cry (like my dad), who I have never seen cry not ONE other time in MY ENTIRE LIFE!!! I stay up at night wondering if my daughter will even remember me, and if so, hoping that I am not remembered subconsciously as a sick, weak, depressed mother who …blah…I also don’t know if I were to recieve it if it would be based on shitty part time jobs I had while I was in school, working to be something and working to save peoples lives, making the deans list Every quarter, and aspiring to prevent people from having to deal with health care workers that I have. Although they say there is no known cause, it is only because they can’t prove that my problem is due to thyroid disease. My normal TSH(thyroid stimulating hormone) should be 5 at the highest, bloodwork was done, and 2 years later I was retested by my current physician. whoever did it the first time overlooked that my TSH was 394 instead of 5 .. A SIGNIFICANT difference, which is why I have hashimotos thyroiditis, also known simply as hypothyroidism, or a leukocyte deficiency, which is known as an auto immune disease. Auto immune diseases however have been linked to PAH as as well as simply put,,, Thyroid diseases this was uncontrolled for so long and go to such a crazy range that it could be why I am where I am now. I am stuck in all of this, and my husband is stuck having to look after me and our daughter because I can’t walk 5 feet without fainting for about 3 minutes, and 4minutes and higher can cause irreversible brain damage…I’m just sooo overwhelmed, and young, and I don’t know what order, or what steps for that matter to take?? If anyone could help I would really apppreciate this.

A: I am so sorry to hear what is going on, I have been following your situation, and I can’t fathom how you are able to deal with it. Here are my suggestions.You have extremely serious problems that require you to have optimum mental as well as physical health. You have made a valiant effort to pull your weight and not become part of a social program, but there is no shame in needing it when you are suffering and dealing with the hand you have been dealt. These programs are for the exact reason of what you are dealing with. First speak with your doctor. If a medication which is considered “not medically necessary” as “Viagra” is, may well be covered if the doctor justifies why you need it. Many of them are, and once it is clarified then they will cover them. If this is not the case, and for the other horrendously expensive drugs you are needing, talk to your pharmacist. They will help you apply for discounts through the drug companies for financial help when it is so important for you to have the medication.Apply immediately for SDI. Then call Social Security and apply for SSDI. You definitely have the medical records proving you are not able to hold down a job. There is no shame in any of these, you paid into the system the entire time you worked, and would you not want anyone else you read about suffering from problems like yours, not receiving the benefits our tax dollars go to. I don’t think you would begrudge another person, so why would you not do so yourself. If you have problems with Social Security, (you may just because of your young age), then get an attorney specializing in Social Security. They work on contingency, however because your case probably will not have much back pay, you may need to find one who will handle yours pro bono. S.S. administration or your county’s health department should be able to help you locate one.This will give you the rest and chance you need to take care of yourself, and your family. The added stress you are under is just making everything a hundred times worse. Modern medicine is giving us miracles everyday, and I sincerely hope you are another one. The first step is getting the medication and financial help you need to deal with these things. Please remember, you paid your taxes and so does your husband. Use the programs you need to use to get well. Best of luck with everything, and please take care of yourself!~~

disability/assistance/HELP?

Q: am a 22 yr old Female, married, 1 child who is 2. I was in pursuit of becoming a RN registered nurse. I have a few health problems, but FINALLY got accepted and now have health insurance. Because of my having health insurance, I got testing done on a few physical issues that were concerning me. I was diagnosed about 1 month ago with pulmonary hypertension by an echocardiogram, heart clots, and holes are ruled out as being a cause(with a transesophageal echocardiogram) and I am now seeing a Pulmonary Hypertension specialist, who did a right heart catheterization on me 2 days ago (which is considered the golden standard of pulmonary hypertension diagnosis,and gives a direct measurement of the actual hypertension range, instead of an estimate like the echocardiogram, and the Transesophageal echocardiogram. My diastolic measurement was 83, which in a healthy persons pulmonary artery should be about 20. I know that my heart on the right side is enlarged due to the pressure build up, I know that it is pushing on that side of my lung, and I know that my prognosis is 10 years OPTIMAL –unless there is a breakthrough in medicine for this rare disease that affects 1 : 1 million people. And for me the cause is unknown which makes my diagnosis, Idiopathic Pulmonary Arterial Hypertension. However, during the right heart catherization I fell into the category of the few with this disease that have a good response to the medication. So because of that my prognosis could be better if I take the medications , and do all I can to improve my condition. The problem is, The medications I need to take to improve this are warfarin(a blood thinner)-very cheap, Viagra(yes,it was originally created for hypertension), but because folks have difficulty getting errections and I need this to LIVE, insurance won’t cover it, and I have to pay $96 for an 8 day supply. I also need to take a medication which I have not yet been prescribed, which will cost between 85-125 THOUSAND dollars a year, depending on the brand, and I know my Insurance company is trying to find reasons to change this… So does anyone know what I should do, or what I am entitled to? the only option I see is going on disability. Other than the money, I have horrible symptoms of fatigue, because oxygen isnt being pumped adequately to the rest of my body, which often causes me to faint as as result of not enough oxygen to my brain, which can be brought on by taking 4 steps, or simply standing up. it causes TONS of other symptoms, not to mention my other health problems prior to this diagnosis. I just dont know what to do because I have to take my meds to live, but can’t afford them, and there’s no way i can work right now due to my physical and mental status, even if I did work, who has over 100 thousand dollars to spend on 1 type of medicine??? If my time is limited I need to use every ounce of energy and muster up any happiness left to shed on my 2 year old and the rest of my family who are hurting. I have seen people cry (like my dad), who I have never seen cry not ONE other time in MY ENTIRE LIFE!!! I stay up at night wondering if my daughter will even remember me, and if so, hoping that I am not remembered subconsciously as a sick, weak, depressed mother who …blah…I also don’t know if I were to recieve it if it would be based on shitty part time jobs I had while I was in school, working to be something and working to save peoples lives, making the deans list Every quarter, and aspiring to prevent people from having to deal with health care workers that I have. Although they say there is no known cause, it is only because they can’t prove that my problem is due to thyroid disease. My normal TSH(thyroid stimulating hormone) should be 5 at the highest, bloodwork was done, and 2 years later I was retested by my current physician. whoever did it the first time overlooked that my TSH was 394 instead of 5 .. A SIGNIFICANT difference, which is why I have hashimotos thyroiditis, also known simply as hypothyroidism, or a leukocyte deficiency, which is known as an auto immune disease. Auto immune diseases however have been linked to PAH as as well as simply put,,, Thyroid diseases this was uncontrolled for so long and go to such a crazy range that it could be why I am where I am now. I am stuck in all of this, and my husband is stuck having to look after me and our daughter because I can’t walk 5 feet without fainting for about 3 minutes, and 4minutes and higher can cause irreversible brain damage…I’m just sooo overwhelmed, and young, and I don’t know what order, or what steps for that matter to take?? If anyone could help I would really apppreciate this.

A: You haven’t worked enough to receive disability from SS. In order to qualify,you have to have worked 40 quarters,which is 10 years.Depending on your household income,you could qualify for SSI,which is for those who are disabled but did not work enough quarters,if you are deemed disabled by the government. If you have a spouse that has a good job,your income might be over the limit as a household and you wouldn’t qualify. If you do,I think the highest amount you can get is around $650.00 a month.Disability can sometimes take years to get. The government loves to turn people down. The average person waits around 2 years till they are approved.Once you are approved,you have to wait two years before health insurance,medicare,kicks in. If you Doctor thinks you are unable to perform any type of job due to your disability,you should file with the SS office. I would imagine your condition would qualify you for disability fairly quickly. Just wanted to let you know all the bad aspects of it. People assume that you can just go apply and get a check and insurance a few weeks later. Good luck to you and your family.