Hello, I do not know if this will reach the right person, but asking desperately for some help. My brother is a 26-year-old Mentally handicapped individual with some SERIOUS health issues going on and noone can come up with anything, which has now left him oxygen dependent and on Lasix to keep fluid off his lung and heart, and no signs of getting any better. Let me start from the beginning as I believe this is all linked someway somehow. About 4 months ago, my brother presented with severe leg swelling on one leg from knee to ankle. My parents took him to Dr, and they treated him with infection from a scratch on his leg. The swelling did not get better and he was having troubles walking. Please keep in mind that all his symptoms have been observed as due to his mental challenges, he never tells us when anything is wrong, without much prodding, (life is good in his eyes) . My parents took him back and they tested him and the sore on his leg had MRSA , therefore they started treating him for MRSA. Again he did not get better, and the finally did a ultrasound of his leg to discover he had a severe DVT from the knee to the ankle. He was therefore put on blood thinners which the DVT eventually did resolve and they were going to keep him on blood thinners for 6 months then take him off and do further testing to see what may have caused this in such a young, active young man. Then at the end of June my parents noticed he was having trouble breathing. When they asked him what was wrong, he said nothing initially, and as they observed him longer they realized he was really struggling to breathe. Therefore, they took him to the ER, and discovered he had a pericardial and pleural effusion . They drained the fluid and ran cytology tests on it which came back negative, but the color of the fluid was milky. They also created a pericardial window to drain the fluid off his heart. His white count was elevated and initially he had blood and high protein in his urine as well, which later cleared. They sent him home on a Sunday. Within 2 days he could not even get out of bed without heavy breathing and again he thought he was okay, so they took him back to the doctor. They did a chest x-ray to discover he had a massive effusion in his chest already. He was admitted and due to the severity they had to put a chest tube in each side and be had to be intubated to keep his oxygen levels up. They drained 2 L of fluid off one lung and 1 L off the other. His white count was elevated. They began running more tests on his heart, from echo to ultrasounds to many other tests. This showed his heart was working extra hard to pump. Eventually he stabilized was extubated still with tubes draining a lot, and they did an MR of his heart which showed his pericardium was thickened to 9 mm. They thought they would have to perform a pericardiectomy due to constrictive pericarditis . They did a heart cath to verify and it showed that his heart was constricted, and by the time they did the cath, his heart actually was pumping ok. The pericardium was still obviously thickened and showed some abnormalities; however was not constricting the heart, so they did not perform the pericardiectomy. They could not pull the chest tubes though as he was still putting out a lot of fluid, but now was clear, with a bloody-tinge. At this time his white counts started dropping as well as his hemoglobin. They ran several blood tests and discovered he was extremely protein malnourished (which is hard to believe as my brother is 6 foot 3 inches and weighs 300+ pounds). He was also severe anemia and had very low lymphocytes, monocytes. They tried iron supplementation and discovered this was making his iron levels worse. They even tried IV iron and still made his iron levels lower therefore they discontinued the iron. He was taking protein shakes for the protein, and this helped stabilize his protein levels. They also did a CT scan of his abdomen and discovered he has splenomegaly. His liver function tests were normal. His CRP and Sed rate were elevated. At this time, they transferred him to a higher level of care as they could not figure out what was going on with him. The University Medical Center ran even more tests, and said everytime they ran a test they ended up with more questions than answers. They were sure it was some kind of inflammatory condition such as lupus or rheumatoid arthritis as my mom has rheumatoid; however all these tests came back negative. Rheumatology signed off on his case saying it was not a rheumatologic condition. The fluid eventually slowed in his lungs and they pulled one tube and then the next. He still requires at least 2 L of oxygen via nasal cannula, but hospital had to send him home as that was his only requirement and insurance would not allow him to stay longer. One week after discharge of being in hospital for nearly 3 weeks total, he is still protein malnourished with anemia. His white cells are still extremely low. They ran immunoglobulin tests on him and discovered they were nearly non-existent. Therefore between his low white count and immunoglobulins, he has no immune system. His lungs have began filling up again in his lungs, and therefore the doctor put him on Lasix to help get rid of fluid. We will not know until next week if this seems to be helping. My parents believe it is helping with his breathing however his ankles are still swelling. He is still requiring his Oxygen. He also had a bone marrow test done, this came back negative for cancers. However, they did say they are still waiting for the iron studies of the bone marrow, but I am not sure what that will really show, except his iron deficiency. Everyone is at a loss as to what is going on. None has any answers and every doctor keeps passing the buck to another and now we are back to his primary care, which I am not confident at all he can handle this. To me it seems this is above so many doctors heads, we need to know where to go. We are treating symptoms as he is now on blood pressure medicines and a medicine to keep his heart rate down as it gets too high, and oxygen and Lasix. This is a 26-year-old, how can he live like this for life. There has to be someone who can help us. Any advice would be greatly appreciated, or anything we can suggest they test for. Obviously this is something rare no one has seen, so we just need to get to the right doctor or someone who has seen this before and can help.
Asked On : Sun, 12 Aug 2012