My dad's struggle to find a solution to his symptoms

As a family, our biggest frustration was the lack of a conclusive diagnosis while my dad's health was declining. He was a very active and participating 78 year old, in his third career, out to dinner four nights a week and involved in everything. As he grew more out of breath, unable to walk more than very short distances and more and more fatigued over a four-month period, we all understood that without a diagnosis and treatment of the cause, we would lose him very soon.

His cardiologist in Bethesda, MD was at a loss to diagnose his illness; (he insisted three times to me that it wasn't his heart and if a cardiologist can't diagnose congestive heart failure, then who can!) And his internist was too busy to listen to his symptoms and help him find an answer. We self directed his visits to specialist after specialist - pulmonology, ENT, vascular, oncology - you name it, we went.

After 4 months of non-answers, my sisters and I took him to Johns Hopkins, and checked him in on Thanksgiving eve through the Emergency Room to get him into their cardiology practice. There, they immediately did cardiac and bone marrow biopsies and gave us a diagnosis three days after he went in. The information we got was very difficult news: “get your affairs in order this is a terminal disease”. We didn't like what we heard, but at least we had an answer.

He was suffering from extreme congestive heart failure, and had to closely monitor his sodium intake to keep the fluid down. He was also on mega doses of lasix, a diuretic, both orally and by injection when the fluid got out of control. The CHF was the most important symptom to treat; there was no way to keep the amyloid from building up in his heart walls, which was thickening his heart and making pumping very difficult. Once the fluid balance was under control at Georgetown University Medical Center, he did better, but it was a delicate balancing act, and he was having a harder and harder time doing anything by himself, including eating, and getting in and out of bed to use the bathroom. We learned that physical therapy did help a little, as they taught him easier ways to get up out of a chair, out of bed and how to walk using his arms as support with a walker. Still, he couldn't improve much, and they finally gave up because it was too hard on him. He tried so hard, but he just didn't have the energy.

We learned that the delay the original cardiologist caused by his lack of knowledge of Amyloidosis was fatal in my father's case. The disease was so advanced when we finally got a diagnosis that there were very limited treatment options, and by then we basically could only treat the symptoms of CHF.

If you are diagnosed with Primary Amyloidosis with cardiac involvement, act immediately, contact Boston University Medical Center or the Mayo Clinic and get into treatment. There are air ambulance services listed in the Yellow Pages that you can use to get there - bed to bed - if you need them. The heart ejection fraction is a very important number to determining the type of treatment your heart can stand, or if a doctor will even treat you, and it can decline too low in a matter of weeks. If yours is 60%, get busy, and move fast! Early detection is the key to saving lives with this disease.

I learned that many in the medical community are too unaware of the symptoms to correctly diagnose amyloidosis; and once diagnosed they are unfamiliar with the current medical advances with the disease, especially with the successes Boston University Medical Center is having with its treatments. Amyloidosis does not have to be a death sentence if the level of local medical care is proactive and patients are referred immediately to institutions where they can get the best, immediate and experienced medical attention.

I believe that amyloidosis is not the rare disease it's said to be, but that there are many thousands of misdiagnosis’s that lead to death which are then not autopsied to determine the exact cause of death. I hope that this can be corrected in the future by education of the medical community, better and earlier diagnostic testing and proactive attitudes by physicians. But they have to be told the positive story of the successes; and early diagnosis is the beginning of success.

We are greatly saddened by the death and loss of our father. We are angered by the attitude of "small town" doctors who stood by and watched a fantastic man pass away because of their apathy and lack of education of a nasty killing disease.

Email: susan.son@comcast.net