Rare diseases come with loneliness, isolation on top of the fear

There are times when words cannot fully express the overwhelming gratitude one feels towards individuals when assisting in providing some Mounier-Kuhn Syndrome awareness. 

We'd like to publicly thank "Nicole Bronchu" for her article appearing in today's health section of the "Florida Sun Sentinel". 

We would also like to offer our thanks to "Shari Carter" who is featured in a short video on the article's website (the HTML doesn't want to embed here, sorry), founder of the "Just Breathe Foundation".

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Rare diseases come with loneliness, isolation on top of the fear

By Nicole Brochu 

South Florida Sun-Sentinel

Cancer. Lou Gehrig's disease. Alzheimer's.

The words carry with them a sense of dread, even doom. And yet there's hope and comfort to be found, too -- in the wealth of research being done, in the vast amounts of information available, and in the large numbers of those affected offering support.

Now say "Mounier-Kuhn syndrome" in a room filled only people who know what the words mean, and the space will echo with emptiness.

Fewer than 100 people on the globe have been diagnosed with this almost always fatal, congenital disease that enlarges the trachea and leads to chronic lung infections. Mounier-Kuhn syndrome is also known by the medical term tracheobronchmegaly.

Fort Lauderdale attorney Joe Carter was an unlucky member of this tiny community. When he was first diagnosed, in 1991, doctors told him he was one of only 70 known cases in the world.

But they couldn't tell him much more. Not how he got the disease, what his life expectancy was, or even who the other 69 people stricken with Mounier-Kuhn's were, and what happened to them.

Doctors had just one long-term option to offer: a double-lung transplant, a rare, tricky operation with no guarantees of success and few available donors. Also, a double-edged requirement that the patient be sick enough to warrant the procedure -- but strong enough to endure it.

The ugly odds caught up to Carter in March 2008, when he was admitted to Jackson Memorial Hospital in Miami with the last in a series of chronic lung infections. He was coughing up blood, barely able to stand, and struggling to catch his breath.

Less than a week later, Carter was dead. At just 38 years old, he left behind a 3-year-old boy, a pregnant wife carrying the son he'd never get a chance to meet, and no real understanding of the disease that took his life.

His widow, Shari Carter, was left reeling. "You can imagine -- forget it -- my whole life turned upside-down," she says now.

But along with the grief and loss, Shari Carter also found inspiration and hope. The Broward County legal community that considered Joe Carter a gifted attorney and favorite son rallied around his family and raised money for their needs.

Carter wanted to help families like hers, too, and bring some purpose to her husband's premature death. So that December, she established the Just Breathe Foundation, devoted to supporting families affected by the disease, raising awareness and promoting research to find a cure.

The charity, started in honor of a handsome, smiling father taken from his family too soon by a little-understood disease, struck a chord. In little more than two years, Just Breathe has been able to raise $30,000 toward its goals.

But here's the tricky part of fighting such a rare killer: Carter has not yet been able to distribute the money because she can't find an appropriate outlet. She knows of no scientists willing to study Mounier-Kuhn, and she's been unable to locate a family in need of financial support.

There aren't even any doctors who are considered experts in the condition.

"You're lucky if you find someone who knows what you're talking about," said Renee Blokzyl, of Toronto, Ontario, whose husband has been fighting Mounier-Kuhn's for the past 11 years. "My husband became an anomaly. You feel like you're having to educate the system."

In fact, it took Canadian doctors months to diagnose Eric Blokzyl with Mounier-Kuhn. He had such difficulty breathing, he couldn't make it from the car to the front door without feeling the urge to collapse. He lay on the couch, unable to do much, for six months.

After months of tests, misdiagnoses and a whole lot of shrugs from lung specialists who had never seen a chest X-ray quite like Blokzyl's, a Vancouver pathologist found the answer only after scanning the X-rays into an email and sending them to colleagues around the world.

"They told him he was number 83 to be diagnosed with Mounier-Kuhn in the world since 1946," said Renee Blokzyl.

The diagnosis meant that Blokzyl's trachea, like Carter's, had become so enlarged and diseased that it impaired his body's ability to clear mucus from his lungs. And like Carter, he will surely die from a resulting lung infection or heart failure. No one knows when, though doctors have taken clumsy stabs at an answer.

"They originally gave him five years to live without a double-lung transplant," Renee Blokzyl said. "They keep looking at him and saying, 'Why are you still here?'"

In the vacuum of real answers is a palpable sense of fear, loneliness, frustration and a desire to fit in, even among other lung disorder patients.

"You're always a curiosity for other people," said 54-year-old Eric Blokzyl,who, with his lungs working at 30 percent capacity, is still a senior manager in the Canadian railway system. "We're frustrated with the medical field because you think you're making headway and something happens and you get blank looks, and you feel like you're starting from square one again."

So little is known about Mounier-Kuhn that the Blokzyls are convinced there are "thousands" of other sufferers who have been misdiagnosed with other lung disorders like COPD.

But without more documented cases, researchers have little incentive to study the disorder. It is a tragic predicament, made all the more isolating for the sparse community of sufferers available to support one another.

That's why Renee Blokzyl and Shari Carter are grateful. The two connected through the Just Breathe website, and they have found solace in long phone conversations spent swapping stories, sharing strategies and lending an understanding ear.

"Just being able to talk to another family, that's just huge, the support end of it," Shari Carter said. "People always say, 'I know what you're going through,' but they don't, they can't." She does know what Blokzyl is suffering, she said, "and it's awful."

There is strength in numbers, it seems, even in the small world of Mounier-Kuhn.

nbrochu@tribune.com, SunSentinel.com/health, Twitter: @nicolembrochu, Facebook: Nicole Brochu's Our Health

You can view and read the article in its original form by clicking the link below;

Rare diseases come with loneliness, isolation on top of the fear

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Newborn baby cord blood; future possibilities for MKS patients?

When speaking of life saving and/or basically single alternatives to a disease such as Mounier-Kuhn Syndrome such as lung transplantation, emotions can fly all over the map.

Last fall, our oldest daughter was expecting her new baby, due to arrive this past January. Determined to be of some assistance toward her father any way possible, her emotional thoughts swung her into action, driven to research on the wonderful possibility of saving and banking her newborn baby's blood cord in the hope that perhaps someday, it could be something invaluable in the role of saving her father's life.

When one has only one prognosis, that of a double lung transplant down the road, having to match size and blood type is of utmost importance, but to complicate the matter a bit, also carrying a rare blood type of AB negative, surely becomes quite another medical glitch.

Our daughter felt passionately about certain possibilities for her wee one's undeveloped blood type held within the newborn baby's blood from the cord and how it might just prove to be life giving someday. And then there are two other considerations, those of stem cells and blood plasma from the cord as well should they become a necessity of sorts down the road.

New mothers are often encouraged to save their newborn baby's blood cord at birth, encouraging a new mother (through the standardized practice of some coerced medical peer pressure) to consider placing this mandated step on her birthing plan to alert doctors and medical personnel to proceed with this step shortly after baby is welcomed into the world. Here in Canada, blood cord can be shipped via air flight courier to awaiting staff from blood bank businesses.

For instance, here in the Toronto region, in the event our daughter were to have her baby's blood cord shipped east for her father's usage after baby's birth, it would be couriered to Vancouver airport in the package brought to the birthing room, flown to Toronto, and then picked up by the Toronto Cord Blood Bank, who have staff members run pick-ups at the airport for future cryogenetic storage until further use is required. All for a fee of course.

There are several to choose from in Canada for cord storage, all one has to do is their homework for the best one for their purpose.

We asked the transplant surgeon his opinion on our daughter's hopeful gifted option last October, and queried how it might benefit my husband's medical journey ahead. Since it is such a cutting edge procedure still at this time, he wasn't sure just how it could be of use during such a lifegiving operation, perhaps time will tell. He just wasn't sure yet.

In the meantime, babies are continually being born each and every day.

How many new mothers might think to offer their baby's cord blood to someone else for future possibilities?

How many are simply thrown in the garbage can when they might save lives instead?

"The birth of your baby grants your family a unique opportunity to collect and store Umbilical Cord Blood & Peristem Tissue Stem Cells. These precious stem cells are the fundamental building blocks of the organs and tissue of the body and have great therapeutic potential

(Over 28 disease can benefit from cord blood banking, especially bone marrow transplantation.)

Here is a thought provoking article below, a live link (just click on it to be brought to the article) to read for further research entitled;

"Choosing to Bank Cord Blood"

Just Breathe Foundation's MKS fundraiser - April 16th, 2011

In memory of a friend, this website was born. Joe Carter was diagnosed with "Mounier-Kuhn Syndrome", and after his passing, the Foundation was born to not only honor him, but also to raise funds for MKS research. 

Having been in touch with Joe's wife over the past year, after a lengthy recent telephone conversation, together we've made a pact to forge forth by working in unison towards the same passionate purpose;

2 countries + 1 goal = Awareness for;

"Mounier-Kuhn Syndrome"

If you live in the Fort Lauderdale, Florida area in the USA, we would encourage you to check out this year's fundraiser taking place this Saturday, April 16th 2011. More information is noted on their website. 

If you're not able to attend, or live in another corner of the world but wish to make a donation for MKS research, the "Just Breathe Foundation" is a non-profit charitable organization granted with the status of a "Non-profit 501 (c) (3), offering the ability for anyone to make tax deductible donations via various methods of pay on their website; Mastercard, Visa, Amex and others. 

Please visit the "Just Breathe Foundation's website" 

to learn more, check out their sponsors 

and honor a friend; Joe Carter.

When the diagnosis comes... part one

With the diagnosis I've been given for my "Mounier-Kuhn Syndrome", I've become very aware that I may be absolutely living on borrowed time until the judge and jury sounds the gavel on the desktop (lung transplant or death). but for pure optimal mental health, it remains of utmost importance to press on with the most positive attitude I can muster, even on the most difficult days.

When I was first diagnosed, my wife and I both felt helpless given that the doctors did not even recognize what it was I was presenting to them, let alone the fact that there was nothing at all available on the world wide web for me to perform any sort of timeless personal research, in the hope of preparing myself for the future.

Exposing awareness to MKS for me, has become ultimately of huge importance, if only to offer another MKS patient camaraderie and support. 

The question becomes, not what I can do for myself having already lived for this long with my diagnosis, but how can we in turn can help another struggling with this difficult still mostly unknown diagnosis? 

Awareness. 

We believe that is the key for living with this rare diagnosis.

Yes! We've been working away, planning on bringing plenty of awareness to MKS.

To make others aware of the disease, to assist those who are diagnosed with it, and to support anyone in the medical field who might be searching high and low for answers to their medical questions. If we can help them in any possible way, we are willing to step up to the plate, as are others we've met throughout the world currently also living with MKS.

Awareness is most definitely key to coping, to understanding, to moving on, to taking even the smallest step along the long medical journey ahead!

Though I am NOT a professional in the perfect sense of the word by way of respiralogy or medical personnel, by having already lived with and through this disease, it has allowed me to become an true expert on my own health journey at the very least. I have lived through double the years all the doctors thought I would, surprising a whole host of specialists by being alive still today.

My own diagnosis was very difficult to come by, a medical puzzle for an entire team of doctors, internists, respiralogists, nephirologists, and even a world renowned pathologist. I was prepared for and bracing myself for a diagnosis similar to the intensity of a confirmed lung cancer, so not sure what was ailing me, I would have been satisfied with that, knowing what we were at least dealing with. A few specialists wondered about COPD, but none were ready for the breakthrough ahead for realizing such a rare diagnosis, penned on my hospital patient chart.

Fast forward a decade, and sadly "Mounier-Kuhn Syndrome" continues to be a very rare and often unacknowledged lung disease even in the best "respiratory lung" circles.

For instance, my wife made contact with the Canadian Lung Foundation to make an inquiry as to whether or not they could include MKS in their data base system on their website, creating a link to something offering more information on it. As usual to most of our inquiries of the past decade, this is the reply we got in return;

Hello,

 

Thank you very much for your comments to the Canadian Lung Association on Tracheobronchomegaly.

 

I am sorry to hear your husband has this disease, and I commend you for your efforts in explaining it and providing support to others.

 

I can understand your disappointment at not being able to find information on tracheobronchomegaly on the national Lung Association website, www.lung.ca.  The truth is, it takes a lot of resources to research, write, translate, verify and continuously update health information. The sheer number of lung diseases is staggering- there are major long-term lung diseases like asthma and COPD (emphysema and chronic bronchitis), infectious lung diseases, work-related lung diseases, lung cancers… it’s a huge range.

 

Sadly we do not have the staff and resources to provide information on every lung disease. This is regretful; I really wish we could do more. The reality is that will small staffs and budgets we just can’t get to everything we’d like.

 

I will note in our files that there has been a request for information on tracheobronchomegaly, and will share this with my supervisor.

 

You may also want to call the respiratory health educators at the Ontario Lung Association. You can reach them toll-free at 1-888-566-LUNG (5864)

or by e-mail at info@on.lung.ca .

 

I wish you and your husband all the best.

 

 

Regards,

 

Mary McNeill

Information Specialist / Documentaliste spécialisée

National Lung Health Framework / Cadre de travail national sur la santé pulmonaire

The Lung Association – National Office / L'Association pulmonaire - Bureau national

1750 Courtwood Crescent, Suite 300

Ottawa ON K2C 2B5

** For all newly diagnosed patients, stay tuned as I'll be offering some practical suggestions in the part two of this article, coming up soon. 

Rare Disease Day - February 28th, 2011

Get involved! 

Find you more about this great designated day by clicking over to their website, located HERE. 

Still working hard behind the scenes. 

• Mounier-Kuhn Syndrome is now on TWITTER, using our handle of "MounierKuhnSynd" (**no hyphen all one word), and nicely attached to every lung association and foundation worldwide, as well as every respiratory type of doctor and professional we could find. Just getting the name circulating will assist in MKS awareness. 

• Mounier-Kuhn Syndrome Journey is now also set up as a community page on Facebook. Come on over and "LIKE" the page, also aiding in the goal to create even more awareness to this rare disease. 

 

We are hoping by this time next year, Mounier-Kuhn Syndrome will be a lung disease featured on the "Rare Disease Day - 2012". 

How are you bringing awareness and helping get the word out about MKS? 

We'd love to hear from you.

Bringing awareness to MKS

Apologies for the delay in posting here. 

May we extend a sincere new year greeting to you and your loved ones for a bright and healthy 2011. 

Here's to bringing even more exposure and awareness to MKS.

Happy New Year!

Please be assured in our absence of posting for a time, there has been much happening behind the scenes. We hope to reveal details on something new and exciting right around the corner, tweaking ideas and possibilities to create a more interactive type of website for those with "MKS".

Over the past while, it has become emotionally happy for us as we've come to the conclusion on the reality that this blog has created baby steps towards a sorely overdue platform for bringing awareness to the forefront on "Mounier-Kuhn Syndrome (MKS)". 

With that as our end goal, we will continue to post anything of informational interest to share with others with this same disease, or to assist the medical field with detailed reference items. 

We continue too to receive emails from those who either have been recently diagnosed with the disease, or who have been living with it for a while now, somehow searching the internet in their attempt to educate themselves more, finding us awaiting them here. And we will be here, available to assist (if possible) anyone who comes in contact with us.

In October, 2010 when the "Canadian Respiralogy Conference" convened in Vancouver, B.C., very obviously MKS was not noted on their agenda.

It seems for all intensive purposes, the mighty two lung diseases which seem to carry the most scientific study are; COPD and Pulmonary Fibrosis. In reality though, there may be more population diagnosed with these two diseases, however there are actually many dozen more lung diseases topping "The Canadian Lung Disease's" own lists, and it's mind boggling that still in 2010, MKS has not actually been documented on such worldwide lung diseases informational lists yet.

Interestingly, the same group of Canadian respiralogy professionals will meet up again next month in Niagara Falls, Ontario, so we can only hope a continued possible growing "awareness" of MKS will eventually be brought to their conference forum.

What little information currently rolling round our globe is from people like you and I who have either been diagnosed with MKS, or from helpful doctors of MKS patients trying to get what information they can into their fields of study by way of using medical journals to record them. Truthfully and sadly though, and often I've seen it as the norm, there are some who may be working on a different agenda, hoping to document their findings or patient diagnosis for the purpose of gaining only possible medical notoriety. I'd like to think these are few.

Always interesting; if worldwide medical journals were filled with actual patient findings to offer further diagnostic and practical advice for MKS patients, then one has to wonder why the only prognosis (still many years later), is to only suggest one things - a life saving operation of a double lung transplant for their futures.

While walking the journey of MKS the past eleven years, I can only suggest a helpful solution would be to continue bringing even more awareness to this disease for rendering further immediate understanding amongst every medical field out there from the paramedic to the hospital emergency wards, and permeating through every professional beyond that.

If two Internists, and an entire team of  Respiralogists were initially unable to even read a simple chest xray of my lungs in my early diagnostic stages, then it's obvious continuous education needs to ripple throughout every single department of all medical fields.

Very recently we received the note below, left as a comment to one of our blog posts.

Immediately our hearts went out to the author, because that was us eleven years ago now, grasping anything we could find to learn how to cope with the MKS diagnosis given to me.

 My name is W. and recently my husband was diagnosed with MKS. Unfortunately he was seen (and diagnosed) by the most incompetent medical staff you can imagine. I am desperate to find a doctor that not only treats this, BUT KNOWS WHAT IT IS!!! 

Please, if you have ANY information that may lead us to who we need, it would be greatly appreciated. Thank you so much for creating this page and; I wish nothing but the best for you and yours.

 Sincerely, W.

Our sole comfort for those who may be recently diagnosed like W's husband, is to please be assured - due to the abundance of lack of information available to medical personal, let alone the lay person, this is the sole reason why this MKS blog was born in the first place.

We know there are others like us around the world who would greatly benefit from having an actual support system for our disease, so if for any reason, this is our hope, that we may offer a tangible way to bring something into cyberspace which may assist another with the whole topic of MKS.

With MKS awareness in mind and for this very reason, I accepted the invitation last summer to have a professional photographer follow me around during my regular respiratory physiotherapy session. Photos were taken throughout my workout while following my usual regime and directive from my physiotherapist during the afternoon.

I am told over 250 photos were taken of me, and I was perpetually teased about becoming the new poster boy for the program. If that's what it takes, to have my medical diagnosis made public, and to have my photo taken while I am trying to keep physically active for possibly being able to fend off any bit of continued digression of the disease, then of course I will participate.

To my fellow "MKS" patients out there, I want to issue you a 2011 new year challenge;

How are you bringing further awareness to our shared disease? 

Let's get our diagnosis more known shall we?

If there is something you're currently part of, or you have an idea to get something rolling, we'd love to hear from you. ,

In the near future, we hope to have an informational video posted on YouTube and we have a few other ideas rolling round our heads. Your further suggestions are very welcomed, please feel free to email us with them. er

Also, we will be hosting MKS stories behind a special tab at the top of this blog, stories by and from those who have been diagnosed with MKS, or from a medical personnel who may be currently treating one. We invite your submissions, which we ask to remain anonymous with the exception of sex, age of diagnosis, country and general geographic area. These will be collected and posted here on this blog for others to read for support, possibly finding similarities in cases to further assist the development research for better prognosis in the future. Entries should be to the point, so they aren't too lengthy.

Have an MKS story you want to share with others?

We invite you to bring it forward.