Rare Genetic Disease Strikes Unsuspecting Families.
It is with sadness that I report that Richard Prete passed away on December 24, 2016. Richard and Nadia have been very special friends of LI TRIO and we appreciate that Nadia continues her volunteer service.= Mike Sosna
This story is dedicated to my brother Tony, and to his wife Trish, who was an incredible caregiver to my beloved brother’s very end. My wife, Nadia who was and is my caregiver, never fails to remind me of the fabulous Gift of Life that was bestowed on me May 17, 2008. It was in the fall of 2006 that the ‘diabetes’ my brother had been misdiagnosed with for several years was finally given its real name: Amyloidosis.
More specifically, it is called Familiar Amyloidosis, since it is usually carried in the family genes. If it had been properly diagnosed in time, he might still be alive today.
With Amyloidosis a mutated gene causes symptoms similar to diabetes and is easy to mistake for diabetes if not delved into more deeply. Although my brother had visited several outstanding neurologists in the Philadelphia area, it wasn’t until it was recommended he visit Johns Hopkins that the truth began to be revealed. To describe it as simply as possible, Amyloidosis is generally formed in the liver, where certain proteins, instead of lying flat, fold over at certain points. When they ‘fold’ they get hooked up with similar folded proteins and form a group.
This folding (grouping) has two major effects:
1 The folding prevents the ‘joined’ Amy- loids from being re-dissolved back into the body (eventually, all cells are dissolved and rebuilt after a certain amount of time.)
2 By failing to re-dissolve into the body, these groups of Amyloids invade certain other systems of the body and cause them to malfunction. The most common symptom is for these Amyloids to accumulate in the peripheral nervous system, thus giving the initial di- agnosis a push in the direction of diabetes. What happens over time, however, is that the symptoms expand to affect more of the nervous systems and can wind up affecting all of the major systems in the body.
Eventually the end result is fatal. As of today, the only guarantee of shutting down the production of these Amyloid is a liver transplant. Even though the Amy- loids are formed in the liver itself, they apparently do little or no damage to that organ. I remember accompanying my brother Tony and his wife as we made the journey on a cold winter’s day up to Boston College, which is one of the most significant research centers in the world for this rather exotic disease. Since my brother had been definitively diagnosed with this illness, the doctors on the staff asked if I wanted to be tested. Statistically the chance of me also having this illness was 50/50 %, so I agreed.
The results were the same as my brother’s results. I had started getting a tingling sensation in the bottom of my feet six months prior, and I too had been diagnosed with diabetes. Tony and I were now both placed on the national listing for livers.
To make the story even more intriguing, our older sister also carries the gene, but has never shown any symptoms. This is not totally out of the norm, as more men than women manifest the symptoms and succumb to the illness. My sister Ann then volunteered to take part in a 36 month study to help uncover why this tends to happen and to test a new drug.
Tony received his transplant in 2006, but in hindsight, it was too late. The Amyloidosis had already started attacking his other organs and to watch his demise was one of the worst experiences I’ve had. He lived in the Philadelphia area, and each time we visited, the changes became more noticeable. Finally, it was in the month of May that the disease won out, and the dreaded illness was finally gone from his house. The details are a bit gruesome, so there is no point in providing those details here.
My own transplant, so far, has gone very well and came about very quickly. In the afternoon of May 17th 2008, I received a call that I had been approved for a transplant and shouldn’t travel more than several hours from Mount Sinai. About 11 PM that evening my wife and I received a call to show up at the hospital. It seems that, tragically, a young lady had been killed in an accident and her family generously donated a number of organs to save other lives.
The operation had some complications, including reopening me for some additional “plumbing” and addressing an infection issue. Since then, however, the liver has functioned exceedingly well. The downside however, is one that many transplant recipients go through, which is suffering the consequence of a weakened immune system due to the immunosuppressant medications we must take every day. Several hospitalizations for pneumonia have followed.
As well as the excellent staff at Mount Sinai, the next hero in this story is my wife, Nadia. Without her as my caregiver, I don’t know how my recovery would have ultimately gone. The work and responsibility she took on was immense, and it was given with the utmost love and compassion.
One of the reasons I think I was chosen for a liver so quickly is that there was a possibility of having a ‘domino’ surgery, But sadly it seems as though that wasn’t meant to be; I don’t have exact details but the story seems to be that the potential recipient of my liver didn’t make it to the O.R. That was so unfortunate, since even with the Amyloidosis my otherwise excellent liver would have provided someone near end stage an extended time of life.
God bless the young woman who donated her liver and other organs to save lives. I will always be grateful to her family and her own sacrifice in extending the life of a stranger. It has been almost four years since that night and I am doing very well. I know without her sacrifice, I would have been in terrible shape by this time. Donors and caregivers, in that order, are two most critical components to a successful transplant.