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February 2010 - Posts
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Don't forget to RSVP about the New England HPS get together dinner if you plan to attend. We have to order the food in advance from the restaurant so we're trying to get an accurate head count. Please RSVP by Friday. Thanks! When: Friday, February 26, 2010 7:00pm - 10:00pm
Where:
AEGEAN Restaurant257 Cochituate Road, Route 30Framingham, MA 01701Come join the HPS Network for dinner and fellowship. HPS Network President and Founder Donna Appell, and Vice President Heather Kirkwood will be in town for the event. Come get to know the rest of your local HPS family!Please RSVP before 1/22/2010 by calling 508.395.7523
For additional information please contact Carmen Camacho at 508.395.7523
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For the past few months www.igive.com has hosted a contest. Charities who can get new members to sign up with igive and visit one store (no purchase necessary) get a dollar. The catch is it's a race and thus the funds go fast. This time they've given us advanced notice. I've copied the info below - help us get the word out - and remind your contacts not to sign up until the given day otherwise it doesn't count. Also ask them to do it as soon as possible after noon central time as once the funds have been awarded, that's it. Thanks for the support! Hi Supporter,Over the last several months, we've tried something new (a series of time-sensitive challenges) to help Hermansky-Pudlak Syndrome Network and all the causes listed at iGive. It's worked better than we ever expected. To date, we've donated over $10,000 as a result of these challenges. So we've cooked up another challenge. This time we're making a change suggested by many of your peers. We're giving you ADVANCE NOTICE of the upcoming challenge to allow time to prepare your notifications to your supporters,if you decide to participate.*************************************************************************SPECIAL CHALLENGE NOTIFICATIONThe 24 hour, $1 per new member special challenge begins Wednesday, February 24, 2010 at noon Chicago time.That is about one week from the date this e-mail was sent to you.SPECIAL CHALLENGE NOTIFICATION************************************************************************To make this work for Hermansky-Pudlak Syndrome Network, it'll require your participation, but it is free and definitely easy. ********************************************IMPORTANT OVERVIEWFor each person who joins iGive using the special link below AND visits a participating iGive store (there are over 700 stores (from Amazon to Zazzle, eBay to HSN and QVC) at iGive) via iGive between noon, Wednesday February 24, 2010 and 11:59 a.m., Thursday, February 25, 2010, we'll give Hermansky-Pudlak Syndrome Network a dollar. ********************************************5,000 new members, $5,000. No purchase necessary. That's 5,000 new members for all causes, not just yours, so it's a bit of race.Of course, if these new members search more (or buy something at an iGive store) they'll earn even more money for Hermansky-Pudlak Syndrome Network. Right now, we're donating a special bonus of $5 for that first purchase plus the usual percentage, on top of this $1 special challenge.Here's where you come in. The only way Hermansky-Pudlak Syndrome Network will get new supporters and that free $1 (or more) is if you invite them. Send your friends, family, and colleagues the following link in an e-mail, tweet it, chirp it, do a Facebook posting, put up posters, shout from mountain tops (you know the drill) and let them know you think Hermansky-Pudlak Syndrome Network is pretty cool and deserves their support, especially since it's free! You can even just forward this e-mail.This is the link: http://www.igive.com/welcome/warm_reg_promo.cfm?c=33944 We've made tons of improvements recently, so we want lots of people to try it out and put it to the test. If they keep on searching or shopping after testing us out, so much the better for Hermansky-Pudlak Syndrome Network .The details: - Offer active between noon, February 24, 2010 and 11:59 a.m., Februrary 25, 2010 (Chicago time). - New members only (never have been an iGive member previously). All the normal rules of membership, searching, and purchasing apply, our site has the details. Real people only, who sign themselves up. It's not fair to hire a room full of elves who sign people up, the new member has to sign him or herself up. - Once we've given away $5,000 to all causes combined, the offer ends. - The special link is important. No link, no $1. - Visiting a store via iGive is crucial. No visiting a store via iGive, no $1.That's it. Don't forget to try our search yourself (http://isearch.igive.com) as well as checking out the over 700 stores. You may need to login or register first (personally, as an iGive member). We sent you this e-mail because you're in our records as the cause contact, not as a member personally.
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Want yet another reason to look forward to the 17th Annual HPS Network Family Conference? How about a chance to check out some of the latest in low vision technology from MagniSight! This year Dr. Miller from MagniSight will be exhibiting the company's low vision solutions, including a brand new product. Stop at their table just off of the registration area on Friday, or outside the main meeting room on Saturday, to check out the technology and to register to win a free, refirbished, color CCTV.
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I found the following Website and organization thanks to a friend with the Pulmonary Fibrosis Foundation. It's called Project Zero. The purpose of the grouop is to empower patients and their care givers to work with medical professionals and help reduce medical errors, preventable infections or preventable injuries. The sad truth is we don't have enough nurses in this country. They get tired and overwhelmed as more and more is expected of them. Rather than just complain, this group is trying to educate families about how they can help out when a loved one is in the hospital. The site has a ton of resources - www.campaignzero.org.
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The Social Security Administration has added 38 new diseases and disorders that are considered to be so severe that they require immediate processing of social security applications. The world of social security is very confusing. I want to start out that I am not an attorney - just a consumer who spent the last year working my way through the system to get social security disability income or SSDI. Adding Idiopathic Pulmonary Fibrosis to the list of disorders is a step in the right direction as typically, the life span from diagnosis to death is typically 3 to 5 years. To spend as much as two of those years in limbo with social security was a huge problem for many patients. For those of us with Hermansky-Pudlak Syndrome, however, I think the impact of this new rule will be slightly different. For starters, many of us get a diagnosis of pulmonary fibrosis and live much longer than this. It isn't necessarily because our disease process is in any way less severe - it's just because those of us that know we have a type of HPS that causes pulmonary fibrosis get tested regularly, and thus get a diagnosis much earlier than the average patient. (Only if we know we have HPS, and that's a whole other issue.) From this standpoint, it's important to understand what the new rule does and doesn't say. It doesn't say anyone with idiopathic PF on their medical record will automatically get benefits. It just means that your application will be picked up electronically and reviewed more quickly. In effect, you're getting pushed to the front of the line - and that's great because it can be one long line! Social security has specific guidelines about how impaired lungs must be before they are considered so sick that they cause disability according to social security. You can find those exact criteria (scroll down to the charts) at: http://www.ssa.gov/disability/professionals/bluebook/3.00-Respiratory-Adult.htmI can tell you from personal experience, you can feel sick way before you hit these numbers. It doesn't mean that you might not feel disabled even if you're not at this stage yet - it's only a government definition. It is then up to you, and your lawyer if you're working with one - to include any other factors that would have a bearing on your case. I would still strongly urge anyone with HPS who is legally blind to continue to use legally blind as their primary disability when applying to social security. Even if you don't feel your vision is your primary medical condition, this is still a better option. The reason is HPSers are more likely to hit the numbers for legal blindness as the vision is an issue from birth. Second, defining who is legally blind is a much more cut and dry thing for social security and the legal system. Either you fall under 20/200 or you don't. It's very cut and dry - and if you hit legal blindness then anything else you list on the application is just gravy. It really doesn't matter if your colitis is severe enough, or your lungs bad enough etc. Another reason is that if you qualify under legal blindness, the government is operating under the assumption that this isn't going to change (usually doesn't) and thus you are eligible to earn more income on the side if you are able to at least work a little part time. This new rule will have the greatest impact on those HPS'ers who have impaired vision, but who do not qualify as legally blind. If you can't hit those numbers, then you have to qualify based on your other medical conditions. This is harder as it's harder for a judge to determine just how your other issues are impairing you to the point of being unable to work. Now those folks, should their lungs become very sick, can look at the lung criteria and determine if they can apply. If they can, then their application will go through more quickly. Here's the tricky catch. The other patient advocacy groups that work on issues of pulmonary fibrosis tend to continue to use the term "idiopathic" as though it were part of the disease name. All that word means is "cause unknown." Just because those of us with HPS know the cause of our pulmonary fibrosis doesn't make it somehow "lesser" pulmonary fibrosis. Unfortunately, when it comes to these big government processes, you just never know who is reviewing your application and how on the ball they will be? Will they know what idiopathic means? Will they understand PF is PF? During my year-long process of getting SSDI, I was asked by a medical examiner when my congenital visual disability started. So, you can understand my cause for worry. If you must qualify for SSDI under this rule change, it will be very important that you and your doctor communicate well and are very savvy about how to fill out the paperwork. If they are willing, use the term idiopathic, even though technically PF of HPS isn't. Or compromise by putting down pulmonary fibrosis and leaving it at that. Here's the press release from the National Organization of Rare Disorders. NORD Press Release!Date: February 11, 2010For Release: ImmediatelyHeadline: Social Security Announces 38 Additional Compassionate Allowance ConditionsSocial Security Commissioner Michael Astrue announced this morning the expansion of Social Security's "Compassionate Allowances" program, which provides expedited review of disability applications from people with severely disabling conditions. The announcement was made in a press release. Originally, a press conference had been scheduled for today, and NORD President and CEO Peter L. Saltonstall was to have joined Mr. Astrue at the podium. However, the press conference was canceled because of the recent snowstorms in Washington DC. The Compassionate Allowances program, launched under Mr. Astrue's leadership in 2008, began with a list of 50 diseases, including 25 rare diseases and 25 cancers. This is the first expansion of the disease list. The Social Security Administration (SSA) selected the 38 diseases from ones recommended during public hearings and a process of information-gathering. NORD's Medical Advisory Committee provided input to SSA during this process, as did medical experts from the National Institutes of Health and other organizations. Mr. Astrue has noted that he and his staff intend to continue to identify additional conditions that should be added to the Compassionate Allowances list. The following is the press release sent out by SSA just minutes ago: Social Security Adds 38 New
Compassionate Allowance Conditions
Expansion Will Speed Benefits to Thousands of Americans with Disabilities Michael J. Astrue, Commissioner of Social Security, today announced that the agency is adding 38 more conditions to its list of Compassionate Allowances. This is the first expansion since the original list of 50 conditions - 25 rare diseases and 25 cancers - was announced in October 2008. The new conditions range from adult brain disorders to rare diseases that primarily affect children. The complete list of the new Compassionate Allowance conditions is attached. “The addition of these new conditions expands the scope of Compassionate Allowances to a broader subgroup of conditions like early-onset Alzheimer’s disease,” Commissioner Astrue said. “The expansion we are announcing today means tens of thousands of Americans with devastating disabilities will now get approved for benefits in a matter of days rather than months and years.” Compassionate Allowances are a way of quickly identifying diseases and other medical conditions that clearly qualify for Social Security and Supplemental Security Income disability benefits. It allows the agency to electronically target and make speedy decisions for the most obviously disabled individuals. In developing the expanded list of conditions, Social Security held public hearings and worked closely with the National Institutes of Health, the Alzheimer’s Association, the National Organization for Rare Disorders, and other groups. "The diagnosis of Alzheimer's indicates significant cognitive impairment that interferes with daily living activities, including the ability to work," said Harry Johns, President and CEO of the Alzheimer's Association. "Now, individuals who are dealing with the enormous challenges of Alzheimer's won't also have to endure the financial and emotional toll of a long disability decision process." “This truly innovative program will provide invaluable assistance and support to patients and families coping with severely disabling rare diseases,” said Peter L. Saltonstall, President and CEO of the National Organization for Rare Disorders (NORD). “On behalf of those patients and families, I want to thank Commissioner Astrue and his enthusiastic team for creating and now expanding a program that will have a direct impact on the quality of life of thousands of individuals." “The initiative not only assists those whose applications are quickly processed, but also assists those whose applications need more time and attention from SSA adjudicators,” said Marty Ford, Co-Chair, Social Security Task Force, Consortium for Citizens with Disabilities. “We are pleased to see today's expansion and look forward to working with Commissioner Astrue on further expansion of this decision-making tool and other ways to expedite determinations and decisions for disability claims.” “We will continue to hold hearings and look for other diseases and conditions that can be added to our list of Compassionate Allowances," Commissioner Astrue said. “There can be no higher priority than getting disability benefits quickly to those Americans with these severe and life-threatening conditions.” Social Security will begin electronically targeting these 38 new conditions March 1. For more information about the agency’s Compassionate Allowances initiative, go to www.socialsecurity.gov/compassionateallowances . ###
New Compassionate Allowance Conditions
Alstrom Syndrome
Amegakaryocytic Thrombocytopenia
Ataxia Spinocerebellar
Ataxia Telangiectasia
Batten Disease
Bilateral Retinoblastoma
Cri du Chat Syndrome
Degos Disease
Early-Onset Alzheimer’s Disease
Edwards Syndrome
Fibrodysplasia Ossificans Progressiva
Fukuyama Congenital Muscular Dystrophy
Glutaric Acidemia Type II
Hemophagocytic Lymphohistiocytosis (HLH), Familial Type
Hurler Syndrome, Type IH
Hunter Syndrome, Type II
Idiopathic Pulmonary Fibrosis
Junctional Epidermolysis Bullosa, Lethal Type
Late Infantile Neuronal Ceroid Lipofuscinoses
Leigh’s Disease
Maple Syrup Urine Disease
Merosin Deficient Congenital Muscular Dystrophy
Mixed Dementia
Mucosal Malignant Melanoma
Neonatal Adrenoleukodystrophy
Neuronal Ceroid Lipofuscinoses, Infantile Type
Niemann-Pick Type C
Patau Syndrome
Primary Progressive Aphasia
Progressive Multifocal Leukoencephalopathy
Sanfilippo Syndrome
Subacute Sclerosis Panencephalitis
Tay Sachs Disease
Thanatophoric Dysplasia, Type 1
Ullrich Congenital Muscular Dystrophy
Walker Warburg Syndrome
Wolman Disease
Zellweger Syndrome
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I've been meaning to make note of this on the blog for a while now.
In the last few years we had updated our literature to reflect the findings that the pulmonary fibrosis of HPS only seemed to occur in types 1 and 4. I had been made aware of a case of a type II with pulmonary fibrosis, but it wasn't directly and I hadn't seen it documented in the literature.
This week, while checking for any new papers on HPS, I found one out of the UK. It was a case report on two non-related people with HPS type 2. They were children. One developed pulmonary fibrosis at 36 months of age.
We need to update our literature and the "Presentation in a Bag" to reflect this possibility.
HPS type II seems to be different than other forms as it involves a severely compromised immune system.
I'm not a scientist or a doctor, but I find that intriging. Am I misunderstanding that? Often problems related to pulmonary fibrosis are because our immune system in our lungs is swatting at flies with base ball bats, or so I had thought. Perhaps I misunderstood? More investigation needed.......
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Today wasn't exactly the most productive day on record. I felt so tired today, and I'm not sure why. By three in the afternoon I gave up and took a long nap. This evening I have another headache, although not as severe as the one a few days ago. What's up with these headaches? This one feels more like a sinus headache than a migrane though.
I haven't had joint pain in a while, but last night I was awake with it about 4:00 am. I got up and took a hot bath, which helped enough to get me back to sleep. No drugs required.
This afternoon I had stomach cramps and broke out in hives. I"m not sure what would be setting off my allergies this time of year, but something is. The hives are also likely partly because my skin is so dry. I keep putting lotion on it - and not the nice smelling foofoo lotion. Nope, I mean the no smelling lotion from the skin doctor. I had to drag the humidifer up from the basement this week because I was having so many nose bleeds. Thankfully I don't get some of the gushers other HPS'ers get. They usually stop in 10 minutes or so.
Okay, now for some cheese with my whine.
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 Thanks Mary Beth....
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 This painting is not for sale. Grin - it's my mom's birthday present. She used to live in Washington State, so it has some meaning for her as it seems to be a place she knows. It's 12 by 16 acrylic on canvas board. I love painting the flowers - I'm so allergic to them it's about the closest I get!
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I am very sorry to report that we’ve had to pull out of Digestive Disease Week this year.
Last year was our first time to attend this amazing event, and it was long overdue. Although severe bowel issues only affect between 15 to 20 percent of those with HPS, for those of us with bowel disease, it can make a major impact on your life – even when it’s mild as mine is now.
Over the years we’ve had to set outreach priorities. We’ve spent money on outreach to lung doctors and researchers first because most HPS’ers with types 1, 2 and 4 pass away from the pulmonary fibrosis of HPS and not the bowel disease. While the gut issues can make you down right miserable and incredibly ill at times, we don’t generally die of bowel disease.
Several years ago a protocol to study the bowel disease of HPS was opened at NIH. We were extremely hopeful about it as we hoped it would not only be a way to gain more understanding of this aspect of HPS, but it would be a way for some patients to obtain much needed treatment.
The protocol proved difficult. The exempting criteria were very stiff. The researchers also wanted to see patients with active disease; however, HPS’ers with very active disease need to be treated. Because many bleed so, they can’t wait several weeks to get into the NIH before something must be done. It was an added complication for the researchers.
So, right now very little research is being done on the bowel disease of HPS (which very closely resembles Crohn’s disease). I can’t help but wonder if there’s a major clue to HPS lurking in our guts just waiting for some ambitious investigator to figure it out.
First, however, they need to know the syndrome even exists. Then they need to find funding for research. Currently, we don’t have funds to entice them with a nice grant.
We were saddened to find at last year’s Digestive Disease Week that there was not a single abstract, poster or session mention of HPS as a cause of bowel disease. Not one.
This outreach is needed badly.
We started to make some headway last year. We found a researcher who has HPS mice with bowel disease (something that’s been much needed.)
This year, however, like so many non-profits, our fundraising is down. As we look ahead at upcoming fundraisers, what we guess they might yield etc. we estimate we’ll have to raise an additional $60,000 to $70,000 from new sources just to maintain our current efforts – not even to expand them.
We simply have to make budget cuts.
Many of our other outreach efforts for the year either already have a significant investment made that we don’t want to lose, or are coupled with additional commitments that cannot be broken.
I’m sure other cuts will be forthcoming, although from where I’m not sure.
I’m choosing to focus on where our minor miracle – the money – can be found.
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I am very sorry to report that we’ve had to pull out of Digestive Disease Week this year.
Last year was our first time to attend this amazing event, and it was long overdue. Although severe bowel issues only affect between 15 to 20 percent of those with HPS, for those of us with bowel disease, it can make a major impact on your life – even when it’s mild as mine is now.
Over the years we’ve had to set outreach priorities. We’ve spent money on outreach to lung doctors and researchers first because most HPS’ers with types 1, 2 and 4 pass away from the pulmonary fibrosis of HPS and not the bowel disease. While the gut issues can make you down right miserable and incredibly ill at times, we don’t generally die of bowel disease.
Several years ago a protocol to study the bowel disease of HPS was opened at NIH. We were extremely hopeful about it as we hoped it would not only be a way to gain more understanding of this aspect of HPS, but it would be a way for some patients to obtain much needed treatment.
The protocol proved difficult. The exempting criteria were very stiff. The researchers also wanted to see patients with active disease; however, HPS’ers with very active disease need to be treated. Because many bleed so, they can’t wait several weeks to get into the NIH before something must be done. It was an added complication for the researchers.
So, right now very little research is being done on the bowel disease of HPS (which very closely resembles Crohn’s disease). I can’t help but wonder if there’s a major clue to HPS lurking in our guts just waiting for some ambitious investigator to figure it out.
First, however, they need to know the syndrome even exists. Then they need to find funding for research. Currently, we don’t have funds to entice them with a nice grant.
We were saddened to find at last year’s Digestive Disease Week that there was not a single abstract, poster or session mention of HPS as a cause of bowel disease. Not one.
This outreach is needed badly.
We started to make some headway last year. We found a researcher who has HPS mice with bowel disease (something that’s been much needed.)
This year, however, like so many non-profits, our fundraising is down. As we look ahead at upcoming fundraisers, what we guess they might yield etc. we estimate we’ll have to raise an additional $60,000 to $70,000 from new sources just to maintain our current efforts – not even to expand them.
We simply have to make budget cuts.
Many of our other outreach efforts for the year either already have a significant investment made that we don’t want to lose, or are coupled with additional commitments that cannot be broken.
I’m sure other cuts will be forthcoming, although from where I’m not sure.
I’m choosing to focus on where our minor miracle – the money – can be found.
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 This is one of my recent paintings. As before, although I usually sell my artwork to raise money for the HPS Network, right now I'm selling it to raise money for Heather as the Network can't afford to hire me right now, thus I need some supplimental income. I must confess - I've debated about whether to post this painting. It isn't my favorite. I was experimenting. An artist friend of mine insists she likes it and that I don't because most of my work has more detail in it. I was playing a bit with this one. It's acrylic and on 8 by 10 canvas board, so it isn't very big. I'm asking $30.
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 Zumba for HPS!
Friday, March 5, 2010
8:00pm to Midnight
Li Greci’s Staaten, 697 Forest Ave. Staten Island
Entrance Fee: $20.00 donation
RSVP required
Dance for the Cure! Come out and enjoy an evening of Zumba for HPS on Friday, March 5th at Li Greci’s Staaten, 697 Forest Ave, Staten Island. Tickets must be purchased in advance. Visit Bubble’s Playhouse, 2102 Clove Road, to purchase tickets. Call them at (718) 447-7779 or e-mail Liz Diaz at: liz69diaz@aol.com. A cash bar will be available as well as several surprise performers! Thanks to our event sponsors, Li Greci’s Staaten, Bubbles Playhouse and HiNrG Sound Pros.
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