Patient Cracks Her Own Mysterious Diagnosis

[juniemarie]

Doctors don't always know best:

http://www.medscape.com/viewarticle/822136

Patient Cracks Her Own Mysterious Dual Diagnosis
Ron Zimmerman

March 18, 2014

SAN DIEGO — Kim Goodsell started noticing physical ailments about 20 years ago, when she was in her 30s and training for an Ironman triathlon. She said she felt "a strange instability" related to the adrenaline of training and had to drop out of the competition.
After finally being diagnosed with 2 rare diseases, "I started looking for what I called the unifying field theory to explain why I had both these conditions," Goodsell said here at the Future of Genomic Medicine VII.

"As a physician, I've never met a patient like her," Eric Topol, MD, director of the Scripps Translational Science Institute in La Jolla, California, and editor-in-chief of Medscape, said during an interview. "She was able to crack the unifying diagnosis after having been told by the top experts in the country that she simply had bad luck."

Kim Goodsell Goodsell, who is now 56, said that years after she quit training, she experienced a run of tachycardia and was given her first diagnosis — arrhythmogenic right ventricular cardiomyopathy. After she had a defibrillator implanted, she started experiencing excruciating pain. "I couldn't even hold a fork," she said.

Goodsell's second diagnosis, for the neuropathy, was Charcot–Marie–Tooth (CMT) disease type 2, a progressive degenerative muscle disease. She underwent a full hip replacement for hip dysplasia.

In 2010, Goodsell asked physicians at the Mayo Clinic whether her ailments were related. She was told no. In fact, according to Dr. Topol, the odds of having arrhythmogenic right ventricular cardiomyopathyand CMT are 4 in 10 million, which is "less than the chance of being hit by an asteroid."

She was able to crack the unifying diagnosis after having been told by the top experts in the country that she simply had bad luck.

But Goodsell wanted answers. "I started looking for what caused my CMT, what genes might be involved," she said. "I came up with the LMNA gene. Mutations in this gene can cause bone disease, cardiac problems, neuropathy, and systemic degeneration. All my symptoms were there."

Goodsell's geneticist tried to dissuade her from private genomic testing, suggesting that the $3000 cost would be of minimal benefit. But Goodsell insisted.

"Lo and behold, the test came back positive," she said.

Then the real research began for Goodsell, who went on to study the molecular pathways of the products of the LMNA gene. "I found there was a convergence with lamin A/C and desmosomal proteins, and that I had a mutation in the LMNA gene that was perturbating the downstream desmosomal proteins. I wrote a whole dissertation on it," she explained.
The results were remarkable, said Dr. Topol. "Not only did she diagnose her disease, she set up her own treatment plan."

She now follows a strict diet. She eats no processed foods containing excitotoxins (free glutamates), and no gluten or solanine, a toxin found in nightshades like peppers, tomatoes, and eggplant, which she previously loved to eat.

Goodsell now has a new outlook on life. "I've dramatically improved. I've not only attenuated the progression of the disease, I've reversed it," she said. "I had lost function in my left hand and couldn't walk without support. I was in so much pain I couldn't see the purpose of living. But I'm back to my old life, traveling the world with my husband having outdoor adventures."
"She's a great inspiration," said Dr. Topol. "Not only to the public, but also to the medical profession. We were not aware that a patient would be capable of doing what she did. Leading physicians in the country were shocked that she could decipher her own problems. We need to give more respect to consumers."
Inspiration for Doctors and Patients

What is significant about Goodsell, according to Dr. Topol, is her single-minded focus and energy. "She said, 'I'm not going to sit with this, I'm going to research this myself'," he explained. "This is a story of someone with no medical background who focused on her multiple genetic diseases and cracked the case."

This is a particularly instructive case because the technology that Goodsell used is very recent. "Five years ago, she wouldn't have been able to do that research," he explained.
This was "a great way to jumpstart the conference," said John Barnard, MD, a pediatrician and medical director of the Research Institute at the Nationwide Children's Hospital in Columbus, Ohio. "That's really what it's all about — insight on human disease," he told Medscape Medical News.

If doctors don't get 'genomified,' their patients will.

However, Dr. Barnard added, "my second thought was a negative one. The story is compelling, but the woman was obviously an outlier in terms of knowledge, intellect, and energy to be able to do what she did."

Dr. Barnard said he thought about Ohio, "where I'm from, and Appalachia, where there are a lot of poor people who are uneducated and ignorant about genomics. When we take genomics public, how do we take it to Appalachia, where the healthcare needs are so dramatic, and how do we take it to the south side of Chicago, east St. Louis, and east LA," he asked.

Dr. Topol said that Goodsell is probably the first fully informed genomics patient he's seen in his practice, but that doctors should be prepared for this to change. "I think she's an exemplar of the future."
Going forward, Dr. Topol noted, "there will be a lot more patients like Kim. Millions of people will have their genome sequenced. If doctors don't get 'genomified,' their patients will."

Dr. Topol is a shareholder in Cypher Genomics. Dr. Barnard has disclosed no relevant financial relationships.
Future of Genomic Medicine (FoGM) VII. Presented March 6, 2014.

Medscape Medical News © 2014 WebMD, LLC

 

[Ema]

Let's worry about Appalachia's basic problems (food (lack of good), drugs (too many bad), and general lack of educational resources before we start worrying about how we are going to take genomics to the poors. It will go down the same way everything else does.

I'm really impressed with Kim. Many of us are doing our own research. Doctors just aren't paying attention and that is why they are surprised. And hopefully in for a rude awakening as their patients get smarter and call them on their BS.

 

[Martial]

Let's worry about Appalachia's basic problems (food (lack of good), drugs (too many bad), and general lack of educational resources before we start worrying about how we are going to take genomics to the poors. It will go down the same way everything else does.

I'm really impressed with Kim. Many of us are doing our own research. Doctors just aren't paying attention and that is why they are surprised. And hopefully in for a rude awakening as their patients get smarter and call them on their BS.

Lol great post

 

[Vegas]

Interference with proteins? Vast improvement after avoiding glutamates and glycoalkaloids? Right-sided Ventricular Cardiomyopathy (Diastolic Dysfunction)? De-myelinating disease? Sounds a lot like ME/CFS. I'd be asking the questions, what factors brought about the expression of her disease process and why do the removal of these nitrogenous compounds result in such dramatic improvement of her symptoms. What if there were a way to enhance the glycosylation of lamins.

 

[Martial]

Interference with proteins? Vast improvement after avoiding glutamates and glycoalkaloids? Right-sided Ventricular Cardiomyopathy (Diastolic Dysfunction)? De-myelinating disease? Sounds a lot like ME/CFS. I'd be asking the questions, what factors brought about the expression of her disease process and why do the removal of these nitrogenous compounds result in such dramatic improvement of her symptoms. What if there were a way to enhance the glycosylation of lamins.

Well her symptoms sounded like a degenerative disease of the entire body, rather then an issue of inflammation in the PNS, CNS, and Brain alongside the other markers of CFS. People with ME may have similar symptoms based on slight inflammation but without progressive worsening damage and demyelination of the CNS system, among the other things like progressive heart and muscle issues and loss.

Damn I am just shocked that a single mutation could cause all of that, I suppose because she wasn't getting the right nutrition for those proteins in the body. Still shocked to see how such a simple change could also reverse the conditions. I suppose her mutation caused the glyco alkaloids to block the proper absorption of these nutrients for her body, but still such an inexpensive and easy fix to work with doing nutritionally.

 

[taniaaust1]

I kind of had to laugh at this article as what she did, most of us are doing and if the doctors didnt have such big egos that many think they are like gods, they'd realise just how much medical knowledge about our own illnesses so many of us have and that they could be learning a thing or two from us if they gave us a chance to share.

I was spoken to like I was some naive person of much lower knowledge only today by a doctor who actually had it all wrong himself. He assessed me in a wrong manner for dysautonomia issues, a laying and standing test but his standing test was done was done immediately on standing and no readings taken after that. Then he tried to lecture me about these results saying...all people get a shift in BP when they go from laying to standing and told me I was fine. I wish I'd got his name so I could send him some info on just how these tests are supposed to be done.
............

But Goodsell wanted answers. "I started looking for what caused my CMT, what genes might be involved," she said. "I came up with the LMNA gene. Mutations in this gene can cause bone disease, cardiac problems, neuropathy, and systemic degeneration. All my symptoms were there."
Goodsell's geneticist tried to dissuade her from private genomic testing, suggesting that the $3000 cost would be of minimal benefit. But Goodsell insisted.

If she'd gone throu 23andME seeing she knew what she was looking for anyway.. she may of found out the same thing for only $99.

Anyway.. great article and Im so glad she was able to make her story public.

 

[Valentijn]

Damn I am just shocked that a single mutation could cause all of that, I suppose because she wasn't getting the right nutrition for those proteins in the body.

Single mutations directly cause a lot of diseases. They're generally referred to as being "pathogenic" when that happens.

The ones discussed in methylation and such have a much milder impact, and can usually be completely compensated for with very simple dietary changes. The milder ones will also not directly cause a disease by themselves, though they might create a vulnerability.

 

[Martial]

Single mutations directly cause a lot of diseases. They're generally referred to as being "pathogenic" when that happens.

The ones discussed in methylation and such have a much milder impact, and can usually be completely compensated for with very simple dietary changes. The milder ones will also not directly cause a disease by themselves, though they might create a vulnerability.

Interesting, nut it definitely seems like hers did cause a lot of issues and a mystery type disease. That is so cool to know she was able to even reverse it all though!! The only thing that would be confusing to me is finding these mutations but the fact that you don't really know if the gene mutation is being expressed or not except by active symptoms, and then knowing if that is the single cause of symptoms or something else. Would not be an issue if you just had to adjust a couple things in life style, diet, and maybe buy some cheap supplements. However if it costed a lot of money to pursue possibilities and treatment further that could get expensive Lol. Not that it really matters though this is so cool! People finally have the power to work with themselves and heal themselves with proper knowledge, genomics really is the way of the future!

 

[Valentijn]

Interesting, nut it definitely seems like hers did cause a lot of issues and a mystery type disease.

Hers is probably pathogenic, especially since it involves LMNA, which has a lot of very nasty known pathogenic mutations. And since she was able to find the actual mutation, it's probably one that was already known to cause her disease. Otherwise it would just be guesswork, which doesn't seem to be the case.

 

[leela]

"Leading physicians in the country were shocked that she could decipher her own problems."

There's most of the problem right there.

 

[Beyond]

Too bad that avoiding processed food, glutamate, gluten and nightshades (among other much things) have proven to be a big failure to attenuate or reverse my illness but is always encouraging to see someone that made it.

 

[Sushi]

"Leading physicians in the country were shocked that she could decipher her own problems."

There's most of the problem right there.

Yes, that part got me too!

You can't win--some doctors don't want you to be medically aware and research your own illness; others don't believe that we are able to and are doing this--in vast numbers! After all, we are the ones most interested in our personal health.

Sushi

 

[Beyond]

Uninformed people probably had got more testing and better treatment than me from my copious medic visits. If you dare to use some technicism then they get into denial mode, you can even fathom it in their faces, but I cannot help but to say something to help them understand a complicate case.

However as said, if I had walked into the room saying "Feelin´bad- uh- need help doc-dunno what can be wrong-ah--too stupid to think about it :thumbdown:" I might have got more testing and better treatment in some cases.

 

[Waverunner]

If doctors don't get 'genomified,' their patients will.

Enough said.