Monday, December 8, 2008

Scleroderma Mark Buenconsejo Poway

Mark Buenconsejo, a Poway resident, who suffers one of these autoimmune horrors, is trying to raise fund for a bone marrow transplant (old technology) to try to save his life. He has less than a 75% chance of getting a fully functioning new immune system and surviving with the only technology he has access to. New techniques in clinical trials offer a far better chance but he has no access until the laws are changed. Here is the article about Mark:

Here are my comments after the article. It was my first comments with the new comment format which apparently does not allow for paragraphs. Below I have re-posted the comments with paragraphs included:

My heart goes out to you Mark Buenconsejo. Scleroderma is a terrible autoimmune disease. Bob Saget, the tall skinny father on Full House and the former host of America's Funniest Home Videos lost his sister to this horror.

My son has four autoimmune diseases which have nearly killed him twice.

Bone marrow transplants when successful can “cure” any autoimmune by replacing an autoimmune patient's immune system with a new one from the donor as the bone marrow carries the potential for making a complete new immune system. Sadly the transplants, as currently done, carry a substantial risk.

What is needed is better patient access to clinical trial medications and research breakthroughs.

If my son or Mark were lab animals (mice), there would be some forty different ways to cure or virtually cure autoimmune disease. These therapies and range from vaccines, to blocking "bad" immune signaling molecules, to introducing healthy immune cells, to fixing malfunctioning genes, to eliminating whole classes “misbehaving” immune cells using various cancer medications—one of which is Rituxan, another is methotrexate. Gleevec has had great success in certain immune dysfunctions as well.

"Orphan" autoimmune diseases like scleroderma do not have enough affected people for pharma companies to potentially make enough money to justify testing autoimmune cures on those conditions with low numbers of potential clients. Pharma starts clinical trials for promising new meds and therapies with major autoimmune diseases like Diabetes type I, RA, MS, Lupus and psoriasis.

The autoimmune “horror genes” sit and wait inside apparently healthy individuals and can go off at any time in a person's life. When those genes are expressed, life changes for the worse and changes fast.

Anyone reading this could have a genetic time bomb in their personal genome or in a loved one’s genome—autoimmune, cancer, Alzheimer’s, ALS or other. Without warning normal life stops for the entire family. Money starts pouring out of bank accounts like water in an attempt to deal with the complications that the disease brings and out of pocket insurance costs that go above and beyond medical insurance coverage.

My son was an athlete and a college newpaper editor. He had a cum laude grade point average. He was in last six months of his senior year of college when “the horror” hit him.

Fewer and fewer new drugs and procedures are approved by the FDA each year as more and more profound discoveries are being made in research. It safer for the careers of FDA bureaucrats to say no, then yes so they usually say no. The FDA has also been chronically under funded for years with not enough experienced personnel to handle the New Drug Applications.

Abigail Alliance is an organization that is trying to get clinical trial meds to more patients sooner instead of later. On TV the Boston Legal episode tonight with Denny Crane (William Shatner) trying to get Alzheimer's meds is based on case that the Abigail Alliance lost last year when the Supreme Court refused to hear their appeal to overturn lower court decision against patient access.

I urge readers to go to the Abigail Alliance site and read about Frank Burroughs (father of now dead Abigail) efforts to get legislation through Congress to give patients a right to experimental medicines. I have a site on blogspot called autoimmune news with info that can be read for local perspective as well.

One of the most promising new therapies for immune dysfunctions and blood disorders is a mixture of bone marrow (mesencymal) cells from dozens of donors that has had remarkable success in graft versus host disease, Crohn's disease and Type I diabetes. The "medication" is in clinical trials. It is made by Osiris and is called Prochymal.

The possibility of stopping these diseases by finding a way to get healthy immune cells to grow in sick patients is very real. Prochymal has stopped decades long Crohn's symptoms in as little as two weeks.

Imagine my son walking again in two weeks in time for Christmas. It could happen if he could get access. Imagine Mark being healthy again in two weeks.

If my son or Mark were mice or had the "correct" autoimmune disease and they met the inclusionary and exclusionary criteria, then they might get the med. As it is they will wait decades for FDA to approve use of these revolutionary new therapies and medications for all the diseases that could be helped. How different their possibilities would be if they had the “Right to Access” clinical trials medications!

John Stossel ABC 20/20 will have a segment about the problem of getting very sick patients into clinical trials or getting access to clinical trial drugs in the next few weeks.

I will be on a syndicated radio show (Dr. Ken). The date has not yet been set but will probably be this weekend (ten minute segment) to talk about the problem.

I am so sorry for Mark's suffering and condition. I wish him the very best. I hope the rest of you will not have to find out how badly broken the current system is until it gets fixed.

The unconscionable delay bringing new medication from lab bench to bedside is a national scandal. With luck none of you will have to watch a loved one suffer and die while medications that could give the possibility of making a difference are withheld just out of reach.

Frank Burroughs lost his daughter. I watched my son nearly die twice so far. Mark and his family must ask for money and make huge sacrifices for his only chance for life. He will not have access to the latest lab advances but at least he has some hope.

Is this the kind of society we want in America? If you do not like it. Do something. Write Congressman ask them to support Abigail Alliance’s ACCESS Act H.R.6270 or your senators. The senate version of the ACCESS Act is titled S.3046

1 comment:

Robyn said...

My son and I both have Hashimoto's. Many other autoimmune disease are actually rooted in undiagnosed or poorly treated Hashimoto's (low thyroid). You can get scholarships, disability assistance and tons of other help for all these other issues, but Hashimoto's is also an orphan disease. We have to visit Diabetes doctors as there are not thyroid specialists. Pharmaceutical politics and power plays wreck havoc with research and treatment options. Big changes in treatment and diagnosis about 30 years ago spawned COUNTLESS other issues as a result as untreated thyroid disease causes diabetes, high cholesterol, depression, ADHD, possibly autism, muscular skeletal problems, Rheumatoid arthritis, growth problems, and SO much more. But if you're "lucky" enough to be diagnosed with low thyroid, and treated enough to avoid firm diagnosis for these other issues that might get you some real help, you end up living a sub par life, with chronic pain, weakness, just barely surviving. Others actually suffer periodic paralysis (my son did for awhile at age 13) and other mystery illnesses and get referred to a psychiatrist, prescribed all kinds of psychotropic meds, and never end up with the root cause being treated. We have REFUSED the "mental" route, and have managed to keep his thyroid issues somewhat managed, but not well enough to keep him from falling through the cracks at agt times when growth spurts and big life changes provoke sliding hormone levels.

I've cried a river in just the last 3 months, watching him lose financial aid, scholarships and hope while medical professionals make excuses and insults... FINALLY doing lab work and adjusting meds. After a long wait, we got in with a new specialist and are waiting for him to go through the "process of elimination," of all the labs, etc. He has made some changes that have helped, but how do we regain what has been lost? Just adjusting to college life and increasing responsibility the FIRST time is a big deal for a kid, without having it all tumble due to illness.

We also will face health insurance issues if he is not in school full time when he turns 19, or by next semester at least. We are clawing the sides of a black hole, trying to avoid the vacuum effect.

I was once an 18 year old valedictorian.... my son was on the Dean's list last semester with full scholarships....

God, please, show us how to beat this... send help.

My heart is with you, sir. Because I am a

Concerned Mom