PCD Foundation Blog

PCD Family Day 2009–One Parent's Experience

January 19th, 2010

Dear Michele, Meghan, Lynn, the researchers at UNC and everyone else involved in the PCD Foundation,

We can’t thank you enough for all you do for the PCD Foundation. My husband, Kevin, and I were so glad we made the trip to Buffalo to attend our first Family Day. We learned a lot which led us to a better understanding of this disease. Equally important we met families who have lived the same nightmare we have lived for years, the misdiagnoses, the fear of the unknown, the stress of dealing with a chronically ill child and finally a diagnosis of a rare genetic disease. Talking, laughing and crying with our new friends was so therapeutic for Kevin and I.

We worried about our son Ryan from the minute he was born. He went through 8 surgeries, countless illnesses, doctors’ visits and was finally diagnosed December, 2008 at the age of 12 1/2 years old. I was scared and probably depressed when Dr. John Welter diagnosed him. I teach full time, have four children and didn’t know what this diagnosis would mean for Ryan and our family. Thankfully my sister- in-law went on-line and found your PCD Foundation. It was a relief to see your PCD website and have some information and guidance. My sister-in-law even called and I wonder if she spoke to Michele, in any case, the kind and caring person suggested we get in the University of North Carolina Center of Rare Diseases’ research study. It felt good to be doing something and within four months of Ryan’s diagnosis we were at UNC, sitting with a team of doctors and researchers for five hours. When do you ever get that kind of attention? Ryan’s lung functioning is within the normal range so that was good news and the best news was he should absolutely continue to play all his sports, baseball, football and basketball. That’s all Rayn wanted to hear!

I feel compelled to tell you about what a special person my son is. I wonder how that works, God thinks, “ok I’m going to give him this nasty, chronic disease but an amazing personality of perseverance and compassion to go with it”. When Ryan was only seven years old he came home from swimming with red blood dripping from his ear. Our youngest was a newborn, my husband was working and I thought I stayed very calm as our doctor in New York City told me to bring him in. We live over an hour away from NYC. As I was helping Ryan wash his hair so his ear wouldn’t get wet he quietly said, “I wish I didn’t have bad ears.” I asked him why, figuring he was going to say because he didn’t like wearing the ear plugs and ear band or that he had to go the Dr. but no Ryan answered, “Because you have to worry about me.” I didn’t expect that but I should have, coming from Ryan. Right after we got the PCD diagnosis I was talking to Ryan about it, trying to be brave and holding back tears and he says to me “Mom, did you ever think life gives you what you can handle?” In another conversation Ryan reassured his Dad telling him that in his life time there will be a cure for PCD. So with that said it seems to be the Clark’s destiny to help build awareness and help raise money for PCD research. Michele pointed out the total of CF donations but noted that there were many small donations made to equal a substantial total. Let’s do that for PCD!

Thank you again PCD Foundation.

Traci Clark

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H1N1 Prevention and Vaccine Information

October 7th, 2009

The medical advisory board of the PCD Foundation recommends that people with PCD follow the Cystic Fibrosis Foundation guidelines for H1N1 prevention and vaccination. These guidelines can be found at:

Seasonal and H1N1 FAQ

Information about Influenza

Staying Healthy Guidelines

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GMA Features Situs Inversus

September 25th, 2009

It is always exciting to hear that a national news organization is featuring a condition associated with PCD, so I anxiously awaited Good Morning America’s (ABC) segment on a man with situs inversus who needed a heart transplant. Last year, ABC Primetime News did a piece on situs inversus for their “Medical Mysteries” show and we were disappointed that they failed to mention the number one condition associated with situs inversus, Kartagener syndrome. Since we had initiated a letter campaign after the Medical Mysteries show (not just about the KS oversight, but other even more egregious problems in how other rare diseases were presented) to request that more accurate information be presented, I really hoped that the second time would be different. Alas, it was not to be. The GMA segment made no mention of KS, reinforced the misconception that situs inversus is benign (even if the condition itself is, the underlying cause for it certainly is not in PCD) and did not address situs ambiguus at all, a potentially life-threatening form of situs anomaly often mistaken for situs inversus.

At least 25% of all cases of situs inversus are linked to KS. It is hard to imagine that a thorough news organization would ignore other conditions where there is such a clear and well-documented association. So, I got out my pen (had to send it the old-fashioned pen and ink way, since their website only allows 500 characters and, as those of you who know me know, 500 characters is just a warm up for me!) and fired off another plea to the producers, asking them to talk to people who are actual experts in situs issues (Martina Brueckner at Yale, the PCD folks at UNC, etc.). This is not an entertainment issue for us, this can be life and death, and we cannot adequately fight the misinformation news outlets spread to their extensive public audience.

If you would like to add your voice to the PCD Foundation’s, here is the email for GMA (only accepts 500 characters): http://abcnews.go.com/Site/page?id=3271346&cat=Good%20Morning%20America.

If you tend to be a bit wordier, like me, here is the mailing address:

Good Morning America
1500 Broadway,
New York, NY 10036

I also sent a letter to my local ABC affiliate, asking for the opportunity to present the full picture about PCD-related situs issues. If you would like a copy of the letter to use in your own area, please email me at info@pcdfoundation.org.

Thanks,

Michele Manion

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PCDF Family Day cancellation due to increase in H1N1

June 23rd, 2009

As many of you are aware, there has been a recent outbreak of H1N1 (aka ‘swine’) influenza in the Buffalo, New York area. As with all contagious disease outbreaks, it is impossible to know at this point whether this is a typical flu scenario or is an indication of a larger infection problem in the region. After reviewing the Centers for Disease Control (CDC) guidelines pertaining to infection containment, the board of the PCD Foundation has reluctantly decided to err on the side of caution and cancel our scheduled PCD Family Education Weekend in Buffalo, June 26-28. Paramount in this decision are the CDC recommendations (quoted below) and recent published statements from the Erie County Department of Health indicating that there has been a recent increase in H1N1 activity in the area.

We are heartbroken at this decision, as it is both disappointing and costly for us. We are committed to rescheduling the event. We will make every effort to reimburse individuals for out of pocket expenses already incurred for attendance. Please contact Lynn Ehrne or Michele Manion with any questions or to request reimbursement.

Lynn Ehrne
585-621-8915
linnie1@frontiernet.net

Michele Manion
623-215-2032
michelemanion@gmail.com

Sincerely,

John Carson, PhD Michele Manion
President, PCD Foundation Executive Director, PCD Foundation

Guidelines from the CDC:
Interim Recommendations
Decisions regarding large public gatherings in the context of this novel influenza A (H1N1) outbreak should be made based on local influenza activity, evolving information about severity of illness from this virus, and identification of high risk groups, and other local considerations. However, given the current information on disease severity and spread, CDC recommends that:
1. Persons with influenza-like illness (ILI) (i.e., fever with either cough or sore throat) should be advised to stay home for 7 days after the onset of illness or at least 24 hours after symptoms have resolved, whichever is longer. See additional guidance for persons with ILI.
2. Persons who are at high risk of complications from novel influenza A (H1N1) infection (for example, persons with certain chronic medical conditions, children less than 5 years, persons 65 or older, and pregnant women) should consider their risk of exposure to novel influenza if they attend public gatherings in communities where novel influenza A virus is circulating. In communities with several reported cases of novel influenza A (H1N1) virus infection, persons who are at risk of complications from influenza should consider staying away from public gatherings.
3. All persons should be reminded to use appropriate respiratory and hand hygiene precautions.
4. Based on currently available information, for non-healthcare settings where frequent exposures to persons with novel influenza A (H1N1) are unlikely, masks and respirators are not recommended.
Large public gatherings offer a good opportunity for public health officials and event organizers to deliver key educational messages about measures attendees can take to help reduce the spread of novel influenza A (H1N1) infection. Event organizers should consider communicating to attendees about the need to remain home if ill and to use good hygiene practices while at the event. Such information may be communicated through a variety of means such as letters, newspaper notices, public service announcements, Web site postings, and text messages. More information is available.

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Potential Genetic-Based Therapies for PCD

June 12th, 2009

New Research on Potential Treatments for PCD.
Larry Ostrowski, PhD
University of North Carolina at Chapel Hill

Recent developments in two active research areas are beginning to show potential for novel treatment approaches to PCD. A new class of drugs is being developed to allow some production of a normal protein from genes that are mutated in a specific way. Normally, this type of mutation (nonsense mutation) causes the machinery that synthesizes proteins to “stop” at the site of the mutation. Drugs are being developed to allow the machinery to “read-through” the mutation and continue to make the rest of the protein. At least one of these drugs is being tested in Phase II trials in cystic fibrosis patients (Lancet. 2008 Aug 30; 372 (9640):719-27. Epub 2008 Aug 20.). Importantly, some of the mutations that cause PCD have been identified as this type of mutation.

In another approach, researchers at the University of North Carolina-Chapel Hill have submitted an abstract to the upcoming American Society of Gene Therapy’s annual meeting in which they report that they were able to restore ciliary activity to mouse PCD cells using a gene transfer vector expressing the normal ciliary protein. Drs. John C. Olsen and L. E. Ostrowski caution that this is a proof of concept study, and much more work remains to be done. It should be emphasized that these two studies would not have been possible without the tremendous amount of basic research that has been performed to identify the genes and the specific mutations involved in PCD. Additional funding for both basic and translational research is needed to further improve the diagnosis and treatment of PCD.

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Information on Respiratory Masks

April 30th, 2009

In response to the outbreak of the H1N1 (swine) flu, the American Thoracic Society has provided information about respiratory masks. It is important to note that not all masks are the same and masks that do not filter for particles the size of viruses will provide little or no protection against influenza.

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Swine Flu Update

April 27th, 2009

As expected, the CDC now reports the number of cases at 40, up from 20 over the weekend. Just a thought–if you’re going to wear a mask or other protective gear, make sure 1.) It is actually effective against viral pathogens (check filter size) and 2.) Put it on according to manufacturer instructions. Check out this guy waiting for a train in New York. Appears he is trying to prevent infections that fall from the sky, but is not too worried about those that might sneak up under his chin…

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Swine Flu

April 27th, 2009

As of Monday morning, April 27, there have been 20 confirmed cases of swine flu in the United States representing states from all geographical regions of the country. The CDC anticipates this number will rise. There have been no deaths from swine flu in the US and only 2 of the 20 cases resulted in hospitalization, the others have been mild and managed at home. Since no vaccine is currently available, the US Department of Health and Human Services recommends taking the same precautions for this flu that are used during the annual flu season, such as frequent hand washing, covering your mouth when you cough or sneeze, avoiding crowds, etc. People who have recently traveled to Mexico or have been exposed to an infected individual need to be especially vigilant for early signs of infection.

The above paragraph pretty much represents what is actually known about this outbreak. A quick Internet search this morning convinced me it was important to separate the actual situation from some of the more alarming news reports and personal blog sites disguised as real news sharing “statistics” and misinformation about the illness and vaccination. Emerging illnesses tend to be frightening anyway, and the recent outbreak of swine flu in Mexico, with isolated incidents being reported in the United States and Canada, is sure to generate some legitimate concern. However, they also tend to bring out every conspiracy theorist (some of them resurrecting a nearly 30 year old grudge from the swine flu vaccination program in the 1970s) and armchair MD eager to grab their 15 minutes of fame at the expense of fact and reason. There are several trustworthy sites for up-to-date information on the outbreak: The Centers for Disease Control (CDC) is maintaining a swine flu update site and the World Health Organization (WHO) is also providing public information on the outbreak.

The bottom line is that this is a type “A” influenza bug (”A” strains tend to be more dangerous) for which there is currently no vaccine. Viruses are amazing evolutionary lifeforms with the ability to mutate rapidly, making vaccine production an enormous challenge. It is this ability to mutate that causes great concern among health officials, since it can be impossible to predict the course of the virus. Right now, it appears that the infection is milder in the United States and Canada–possibly due to our intensive annual flu vaccine programs that some speculate might have conferred at least partial immunity to some elements of the virus. It is really impossible to know which way this will go and we have had other public health scares that never materialized. For now, it is important to stay informed through credible sources about the evolving public health situation, take precautions against exposure and seek treatment right away if symptoms develop. Anti-viral medications (so far this strain of flu responds to two medications) are only effective if used within the first few days of infection, so be alert to early signs and symptoms as listed on the CDC site and seek testing right away if you suspect infection.

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ATS Guide for Parents: PFT’s in Children

April 10th, 2009

Here is a nice overview of pulmonary function testing (PFT’s) in children provided by the American Thoracic Society.

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Social Networks- Facebook & MySpace

April 6th, 2009

What a week it has been on Facebook. Ashli, a wonderful young adult PCD patient, made a Facebook cause page months ago. Some of us less tech-savy PCDF’ers didn’t know how to use these services. Last week we took the plunge and dove in head first. Building on Ashley’s idea, I sent out a challenge- There were already 137 members. If we reached 240 members by my 40th birthday (April 19- shameless plug, I LOVE birthdays) I would donate $40. We reached that in a day and a half. I put out the same challenge again for 340 members. We reached that in the same amount of time. The new challenge is 1000 members by July 15th and I will donate $50. Folks have asked what the significance is. It is my son’s birthday. Growing up with PCD I was told I wouldn’t be able to have kids. My son would disagree!! Other folks have set up similar challenges at the page too. Props to all of you.

In 7 days our membership has grown from 137 to 565. Folks have donated over $600 dollars. It is just incredible. Everyone is recruiting people to our cause page which is helping to raise awareness 1 member at a time.

Big shout out to Ashli!! Thank you for starting the page and allowing the PCDF to manage it.
The funds raised so far from the page are going to help families attend the PCDF Family Education Weekend in June.

We are doing great things together….keep spreading the word! Check out our Facebook cause page and share it with everyone. You never know who you may helping.

http://apps.facebook.com/causes/1394/31056371?m=cc366e79

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PCD Foundation Blog

PCD Family Day 2009–One Parent's Experience

H1N1 Prevention and Vaccine Information

GMA Features Situs Inversus

PCDF Family Day cancellation due to increase in H1N1

Potential Genetic-Based Therapies for PCD

Information on Respiratory Masks

Swine Flu Update

Swine Flu

ATS Guide for Parents: PFT’s in Children

Social Networks- Facebook & MySpace

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