Archive for January, 2010

As most of you know my brother is an AMAZING musician and he is working on a CD to come in the next couple of months. He released a couple songs as a sneak peek into all the glory of it. You will love it. Go listen to it

http://www.myspace.com/brianlightfootmusic

Well on Friday I had plans to write a blog about how very wonderful I am… No really I was! I planned on writing about how Ginger is 10 months old and we have NEVER missed one treatment. She has had every single breathing treatment and been clapped twice a day always. Well life seems to have a way of letting you know you’re not perfect and Friday all my big plans went right down the tube. Ginger woke up at 5am and I went in the kitchen to get her apple sauce and enzymes when I see it is snowing like crazy. We don’t see snow like this often being in California and at only 3500 feet. It really is rare. I got all excited like a kid that was going to get school called off. Why? I don’t know because things got worse and worse from that point on. Derek left for work (I thought) only to return home 20 min later because his little Scion got stuck in the snow. He had to call in to work. Then we started to hear crackling and braking. We looked out the window to see a huge 800lb branch swinging back and forth  like a windshield whipper in front of the house. We called Edison because it was right over our live electrical wire! By the grace of God it did not fall. The day was still pretty fun until the electricity went out. This is where our perfect record of never missing a breathing treatment(We still clapped her, but missed her HyperSaline) went out the window. We had no power to do it and we’re snowed in! I mean over a foot of snow in a matter of hours! This also means the heater fan on the fireplace will not work so we were freezing. We bundled up the baby (Christmas Story style) and waited… and waited. My dad borrowed a generator from his work so Ginger did get her treatment from that night on. The next morning still no power and our neighborhood water’s pump runs on electricity so the water started to run out. We filled pans for back up. Drip, drip, drip they filled. That night they got a generator out to the pump and we had water again! Thank the Lord. Long dramatic story short, the power just came on last night, and the phone just came on tonight. We are so grateful. I started to complain, but I realized how very fortunate we are to first have the best family and neighbors in the world. We had people checking that we had food, water and power to take care of all Ginger’s needs. My parents live down the street and where going through the same stuff and gave us the generator so Ginger had heat and treatments while they got ready for work in the dark and cold. We really saw who came through and who loves us and our baby. Our neighbors offered their water and came to see how we were. I just really love everyone we live by. The second reason I could never complain is I read all that the people and children of Haiti are going through and our little few days with no power seems stupid and embarrassing to even mention. My heart hurts for them. I wish I could take them into my home. Third I’m so grateful to live in this day and age when I can take care of my child and I have the medications needed to give her more time until we find a cure. I just really want to say I’m blessed and grateful for all that I have. Tonight Derek cheersed (not a word) me with a glass of wine and told me there is no one else he would rather sleep on the floor with. (we wanted to be near the baby during the storm and make sure we could hear her) I just love my family! That’s all… Oh and I’m pretty great because in 10 months I’ve only missed one treatment. Ha!

Last week we went to parents information night for our CF clinic. It was wonderful and full of great information. Honestly I think Derek and I could have put on the presentation because we read EVERYTHING we can get our hands on. We were hoping to get tons of unpublished information. Well we did not, but it all worked out better than we could have planed. When we got there Derek walked right up to the very front and center table and went to clam our seats. I told him wait that one is reserved. As we started to look for another seat one of the doctors walked up and said go ahead and sit there because a few people were not coming. They introduced us to the other couple sitting there. We sat down and started to talk to the other parents. They have a 2 year old son with CF and they were inspirational, kind and seemed to understand fully every single emotion we have struggled through in the past 10 months. It was such a relief to talk to someone in person that understood what we were going through and could honestly say it got better. I enjoyed talking to this mommy so much and by the end of the night left feeling like God put us at that table to give us hope and let us know we were not alone. This couple was the guest speakers. The mommy shared her struggles and how she has grown. She was nothing short of wonderful. The daddy was also inspiring and sang a BEAUTIFUL song to a slide show of all of the beautiful children at our clinic that are fighting for their lives until we give them a cure. It was all I could do to hold it together watching the faces go by. Now that alone with all the information from the doctors would have been a great night, but the icing on my cake was when that daddy we sat with all night got up and told the story about the the day he golfed with the CEO of the Cystic Fibrosis Foundation. He said the that Robert Beall said to him that he is in his 70’s and has a bad heart but he said he believes we will have a cure before he dies. I’m so grateful for men like him and the scientist and doctors that work so hard to give my baby and so many others a longer life and us HOPE. There are TRUE hero’s out there that you would pass on the street and have no idea they were changing lives or maybe even saving them.

Middle Ages – In medieval folklore, infants with salty skin, a symptom of cystic fibrosis, are considered “bewitched” because they routinely die an early death. “Woe to that child which kissed on the forehead tastes salty. He is bewitched and will soon die.” This bit of folklore, handed down through the ages, is an early description of the disease now known as cystic fibrosis. This is one of the earliest references to cystic fibrosis. Folklore from the Middle Ages, from Germany and Switzerland, made this reference. The earliest documented reference in the literature is from 1606, Alonso y de los Ruyzes de Fonteca, professor of medicine in Spain, wrote that it was known that the fingers taste salty after rubbing the forehead of the bewitched child.’ This is a clear reference to the fact that children with cystic fibrosis have very salty sweat, due to the abnormal protein manufactured by the cystic fibrosis gene. This protein regulates the movement of sodium and chloride from the body’s cells. Sodium and chloride are two components of salt. The sweat glands of a person with cystic fibrosis secrete too much salt, and the person tastes salty. This is also a reference to the fact that in earlier days, people with cystic fibrosis did not live past infancy.

1936 - Fanconi refers to the previously nameless condition as “cystic fibrosis with bronchiectasis.”

1938 – Andersen of Columbia University develops the first comprehensive description of cystic fibrosis symptoms. CF also named Mucovicidosis.

1949 – Lowe establishes that cystic fibrosis is a recessive genetic disorder.

1953 – After observing excessive dehydration of cystic fibrosis patients during a New York City heat wave, di Sant’ Agnese of Columbia University formally reports to the American Pediatric Society that CF patients secrete excessive amounts of salt in their sweat. This observation leads to development of the sweat test as a diagnostic standard for cystic fibrosis.

1955 – A group of volunteers, including parents of children with CF and physicians meet to form the CF Foundation, headquartered in Philadelphia; among the group is Milton Graub, M.D., a pediatrician and father of two children with CF, who later becomes the CF Foundation’s third president and who remains active in the CF Foundation today; life expectancy for people with CF is 5 years old.

1961 – The CF Foundation establishes the first CF care centers; CF Foundation hosts first conference of CF care center directors.

1962 – Additional CF centers established, bringing total to 30. Predicted median survival increases to about 10 years.

1965 – CF Foundation begins clinical fellowship program; George Frankel, a CF Foundation founder, establishes Guidance, Action and Projection conferences, a fellowship program to bring basic scientists into the field of CF research.

1966 – CF Foundation establishes Patient Data Registry, which tracks the histories of patients treated at CF care centers.

1968 – CF Foundation hosts first National/International Medical Conference.

1972 – First national seminar on needs of young adults with CF held by CF Foundation.

1978 – Headquarters moves to Washington, D.C. to be close to the federal government and the National Institutes of Health (NIH); first nationwide fund-raising event held, called Bowl for Breath, nearly doubling the fund-raising dollars for CF. The number of Cystic Fibrosis Foundation-accredited care centers now total 125.

Early 1980’s – Researchers associate organ damage caused by CF with a malfunction of the epithelial tissue.

1980 - Robert J. Beall, Ph.D. comes to the CF Foundation as medical director from NIH.

1981 – Satellite CF care centers for adults were established for the first time; life expectancy reaches 20 years.

1982 – The CF Foundation creates the Research Development Program (RDP) to encourage leading academic and scientific institutions to establish centers of excellence in CF research; Doris Tulcin, Chairman Emeritus of CF Foundation, launches a capital campaign—the first of its kind by a voluntary health agency—to raise $15 million to support the creation of the RDP; Robert K. Dresing becomes volunteer president of the CF Foundation, later becoming the first president and CEO.

1983 – Scientists show that cells lining the lungs fail to properly move chloride into the airways; the Orphan Drug Act is signed into law and provides companies with financial incentives for developing drugs for rare diseases like CF; Frank Deford, sportswriter and novelist, writes the book, Alex: The Life of a Child about his daughter who died from CF at the age of 8; Deford becomes Chairman of the CF Foundation’s Board of Trustees.

1984 – American Airlines, Outstanding Corporate Partner of the CF Foundation, hosts the first Celebrity Ski event to benefit the CF Foundation.

1985 – Life expectancy reaches 25 years.

1986 – The movie, “Alex: The Life of a Child” appears on ABC putting CF in the national spotlight; CF Foundation tops $20 million in fund-raising.

1988 – CF Foundation establishes Cystic Fibrosis Services—a specialty pharmacy—to provide availability, access and assistance with the complex insurance issues faced in obtaining CF medications.

1989 – Francis Collins, M.D., Ph.D., John Riordian, M.D., and Lap-Chee Tsui, Ph.D. discover the CF gene with support from the CF Foundation’s RDP; CF Foundation hosts first GREAT STRIDES walk-a-thon, now a $20 million+ annual fund-raising event. A Team led by Tsui and Riordan of the Hospital for Sick Children in Toronto discover the gene responsible for CF and name its protein product cystic fibrosis transmembrane conductance regulator (CFTR). The gene is mapped to chromosome 7q.

1990 – CF researchers achieve test tube “proof of concept” for gene therapy.

1993 – FDA approves Pulmozyme, the first biotech drug designed for CF, which breaks down thick CF mucus following studies in CF care center network; first gene therapy tested in person with CF—shows gene therapy corrects CF cells in nasal passages; CF Foundation and NIH establish nine gene therapy centers for CF studies; Beall becomes president and CEO of the CF Foundation; The Boomer Esiason Foundation redirects its mission to support the CF Foundation when Esiason’s son, Gunnar, is diagnosed with CF.

1996 – The Seattle Breath of Life Gala, which has raised more than $24 million since its inception in 1984, becomes the CF Foundation’s first “million dollar event,” raising $1,002,500 in one night; CF Foundation forms public policy alliance, a grassroots group of volunteers who inform policy decision makers.

1997 – FDA approves TOBI, an inhaled antibiotic, after CF Foundation-supported studies showed safety and efficacy; CF Foundation establishes the Therapeutics Development Program (TDP) with seven centers in the Therapeutics Development Network (TDN); CF Foundation forms Adult Task Force to address specific issues facing adults with CF.

1999 – Bill and Melinda Gates Foundation gives the CF Foundation a $20 million grant for drug discovery; Cam C. Cooper is named Chairman of the CF Foundation’s Board of Trustees.

2000 – CF Foundation-supported researchers complete map of Pseudomonas aeruginosa genome; CF Foundation establishes CF National Bioinformatics Center to help spur discovery of new treatments; CF Foundation awards contract to Aurora Biosciences for up to $46.9 million for CF drug discovery (the largest grant of its kind by a nonprofit organization); CF Foundation establishes Cystic Fibrosis Foundation Therapeutics, Inc. to govern CF Foundation’s drug discovery and evaluation efforts.

2001 – Tom Marsico, CEO of Marsico Capital Management, LLC, commits $25 million over several years in support of the TDP; CF Foundation makes first multi-million award for drug development with Altus® Pharmaceuticals, Inc. to develop TheraClec TM Total, a potentially more efficient pancreatic enzyme.

2002 – Results of CF Foundation-supported clinical trial on azithromycin show that the drug is effective in improving lung function in people with CF; the TDN expands to 18 centers.

2003 – Targeted Genetics, Inc., with CF Foundation support, begins a Phase II CF gene therapy trial that represents the largest and most advanced gene therapy trial for CF to date; CF Foundation tops $150 million in fund-raising; CF Foundation launches Volunteer Leadership Initiative, to bring 2,003 new volunteers to the CF Foundation in 2003.

2004 - Results from Inspire Pharmaceutical’s CF Foundation-supported clinical trial of INS37217 to restore ion transport demonstrate both safety and improvement in lung function in people with CF; pipeline of CF therapeutics in development includes nearly two-dozen potential therapies; CF Foundation recommends nationwide newborn screening for CF at North American CF Conference, which now includes nearly 3,000 attendees; life expectancy increases to the mid-30s.

2005 – Predicted median age of survival increases to nearly 37 years.

2006 – Cystic Fibrosis Foundation Therapeutics-supported studies in Australia and UNC show that hypertonic saline helps clear CF mucus and becomes a therapeutic option.

2006 – The first compound for CF, discovered through high-throughput screening at Vertex Pharmaceuticals, begins clinical trials.

2006 - Inspire Pharmaceuticals begins Phase 3 clinical trials of its innovative denufosol drug to hydrate and clear CF mucus.

2007 – VX-770, a potentiator candidate developed by Vertex Pharmaceuticals, entered Phase 2 testing. This drug may restore the function of the CFTR protein. Vertex also is working to develop corrector candidates, which aim to improve the function of the CFTR.