Rare Disease Day - Hug Somebody Special and Rare!

Rare Disease Day - Leap Day
February 29, 2012

An opportunity to raise awareness and to give somebody special a hug!

World Rare Disease Day is a fitting time to highlight a special video/slideshow montage of some of our NNPDF member families.

The music video, created to honor the love and support of family relationships, is set to an upbeat song from singer/songwriter Rachel Taylor, titled "Here for You Always."

Rachel is the cousin of Lorna Tyrrell (mom to Naomi, NPC).

Listen to "Here for You Always" once, and we guarantee you will be humming its catchy tune the rest of the day! :-)

See the video on YouTube, then go hug someone rare and unique!

For more of Rachel Taylor's music, visit http://www.racheltaylormusic.com/.

For more about World Rare Disease Day, visit the NNPDF's special page.

Countdown to Rare Disease Day on February 29!

The 5th Annual Rare Disease Day will be recognized on the ultimate rare day -- Leap Day -- on Wednesday, February 29.

Join with five-year-old Johnathan Spencer in raising awareness of rare diseases -- Niemann-Pick Disease in particular.

Visit the NNPDF's Rare Disease Day page for many fun and easy ideas of how you can get involved!

Leap Day is World Rare Disease Day

Please Help Us Raise Awareness!

As we draw closer to World Rare Disease Day on Leap Day, February 29, we want to remind you that there are many simple ways you can get involved and help raise awareness and funding for those affected by rare diseases, including Niemann-Pick Disease.

One super-easy way to raise awareness is to right click the Rare Disease Day logo, copy it, save it, and use it as your Facebook profile photo.

Please visit the NNPDF's NewsLine page for more easy ideas to recognize Rare Disease Day and raise awareness for those who are affected by rare diseases the world over.

Gabrielle Christine LaVerde 8/24/01 - 2/17/12

It is with great sadness we report that Gabrielle LaVerde has passed away at the age of 10 years due to the effects of Niemann-Pick Disease Type C. Gabrielle is survived by her parents, Danielle LaVerde and Joseph LaVerde, and other relatives and friends.

The visitation for Gabrielle will be Tuesday, February 21, from 5:00 until 7:00 p.m. at the Oaklawn Chapel of Baldwin Fairchild Funeral Home, 5000 County Rd. 46A, Sanford, Florida.

Funeral Services will be Wednesday, February 22, 2012, at 3:00 p.m. at Westview Baptist Church, 4100 County Rd. 46A, Sanford. The Baldwin-Fairchild Funeral Home is assisting the family.

We extend our deepest sympathy to the LaVerde family in this very difficult time.

For more information about Niemann-Pick Disease, visit www.nnpdf.org .

TREAT Act Introduced

NORD Supports
Transforming the Regulatory Environment to Accelerate Access to Treatments (TREAT) Act

U.S. Senator Kay Hagan (North Carolina) introduced the Transforming the Regulatory Environment to Accelerate Access to Treatments (TREAT) Act on February 15, and the National Organization for Rare Disorders (NORD) has issued a press release in support of it.

Senator Hagan's statement describes the bill thus: "This bill empowers the Food and Drug Administration to ensure consistent processes and a clear and effective pathway that will encourage the development of innovative treatments to benefit patients, particularly subpopulations and those with rare diseases, and improve the public health."

NORD supports this proposed legislation which, among other things:

•enhances and codifies the accelerated approval process
•addresses concerns of the rare disease community related to conflict of interest provisions
•provides greater clarity, consistency, and transparency in review processes
•encourages innovation and adoption of modern scientific tools in regulatory science

Senator Hagan's statement mentions the flexibility study conducted by NORD earlier this year and the need to ensure uniformity in the application of flexibility.

For a link to NORD's press release, including the text of Senator Hagan's statement, visit the NNPDF's NewsLine page.
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B

Back from the Clinic

It's been a wonderful couple of weeks. Our new little grandson, Andrew, was born to Aaron and Andrea. He was born at home and is healthy and well. The next day, Larry and I flew to Houston, TX to see Dr. Burzynski. There is no sign of cancer at all. He has reduced the medicine he has me on to 3 times a day instead of 4. I need to have another ct/pet scan in 6 months and will need to go back to the clinic. He wants to make sure there are no stem cells left in my body. Everything looks really good. Still in remission!
Came home from the clinic and watched Aaron and Andrea's other 4 kids for several days and then flew to Utah to be with Jonathan and Carrie and there kids. We had a great time together! On the flight home, I met a darling young lady who donated $500 towards my medicine! She is soooo sweet.
Now I'm home and Thomas is engaged! He is marrying Tannis, who is a darling girl and we love her. That happened last night, on Valentine's. This weekend, we will be meeting her parents and going out to dinner.
Our daughter, Christina and her husband found out they are expecting a girl! We are so excited. They spent the morning at the hospital though as she has been spotting. She over excercised and needs to stay down for awhile. They say the baby is fine.

NIH Clinical Trials and You

New Web Site Launched

The NIH announced the launch of a new Web site titled NIH Clinical Research Trials and You, geared for those considering participating in a clinical trial.

According to the press release announcing the new site, "Clinical trials are essential for identifying and understanding ways to prevent, diagnose, and treat disease. Research has shown that among the greatest challenges to recruitment of volunteers is the lack of general knowledge about what trials involve, where they are carried out, and who may participate."

This new Web site aims to help potential participants learn about clinical trials and make an informed decision about whether they should take part. The site includes sections on "The Basics," "Volunteer Stories," "Researcher Stories," "Finding a Trial." Also, "For Health Care Providers," "Educational Resources," a glossary of terms, and much more.

Visit the NNPDF's Clinical Trials and Research Studies page for a link to the new NIH site and to learn more.

World Rare Disease Day on Leap Day

More Than 630 Partners to Join in Marking Rare Disease Day February 29

On the ultimate rare day---February 29th---millions of people around the world will be observing Rare Disease Day. And in the U.S., more than 630 patient organizations, government agencies, research centers and companies who have signed up as "Rare Disease Day Partners" (including the NNPDF), will join the National Organization for Rare Disorders (NORD) in supporting the day!

"This year marks the 5th anniversary of Rare Disease Day," said Peter L. Saltonstall, president and CEO of NORD. "The event has grown every year and was observed in more than 60 nations last year. The purpose is to raise awareness of rare diseases as an important public health issue."

To learn more about how you can get involved in World Rare Disease Day, visit NNPDF's NewsLine or our Rare Disease Day page.

Gardening

We have a beautiful garden and I've reaping this morning. I just got 3 heads of cauliflower, 2 cabbages, radishes, tomatoes, cilantro, parsley, lots of lettuce and more. It's fun! But I miss my little grand daughter, Lily, because she is my helper when it comes to reaping. Now she lives up in Utah and I have to reap all by myself.

This weekend we leave to Houston to visit Dr. Burzysnki. I'm anxious to find out if I can start diminishing my anti neoplastins and then got off of them entirely. I'll do whatever the doctor says to do. I love going to the Burzysnki clinic. They are so positive and upbeat there, and have a wonderful spirit about them. I've packed my bags already and am ready to go.

I'm hopeful that our grandson will be born before we leave, as he was due last week. I love life and am soooo grateful for may more years ahead of me. I've been exercising and bike riding and just enjoying the beautiful weather. I've also started writing our family history. I'm eternally grateful to a loving Father in Heaven who was so merciful to me and who snatched me from an early death of cancer. I'm also indebted to Dr. Burzysnki and his staff as well as my wonderful family and friends. So many have prayed for me and paid for my pills. I want to bless other peoples lives and serve in whatever ways I can.

Semua (Masih) Gara-gara Rayap (part 2)

Pergilah kau..
Pergi dari lemariku..
Bawalah semua rekan dan saudaramu~

Shoo..shoo..shoo..

Masalah rayap di lemari sudah selesai, TAPI masalah sekunder akibat rayap belum selesai. Gara-gara rayap, lemari jadi agak rusak. Akibat lainnya adalah bau minyak tanah di kamar yang semerbak mewangi sepanjaaaaaaaang hari. Eh, jadi ingat sinetron GERHANA yak, jaman dulu sekali, haha.

Kenapa bisa bau minyak tanah?
Karena bapak yang membereskan lemari penuh rayap itu, menggunakan minyak tanah semacam itu lah untuk mengusir serangga-serangga itu. Alhasil, beginilah nasib dalam kamar menjadi bau minyak tanah. Hmm, ini sih pemiliknya yang 'terusir' karena minyak tanah, tidak tahan sama baunya! ckck.

Bisakah rayap 'hilang' karena minyak tanah?
Seperti yang pernah dibahas mengenai rayap, serangga yang satu ini sangat menyukai kayu dan selulosa lainnya. Orang-orang banyak menggunakan minyak tanah atau oli untuk mengusir rayap, karena memang rayap tidak menyukainya. Terbukti rayap di lemari sekarang sudah menghilang, diiringi munculnya bau minyak tanah yang sangat menyengat.
Sekarang masalahnya adalah berapa lama minyak tanah ini dapat bertahan untuk mengusir rayap? Menurut Suara Merdeka (2010), lama kelamaan lapisan minyak tanah ini pasti akan menghilang dari permukaan kayu di lemari. Dan mungkin saat itu rayap sudah bersiap-siap melancarkan serangan lagi. Who knows.
Yaah, cara paling bagus sih mengganti lemari dengan yang baru, yang pasti tidak ada rayapnya. Dan setelah itu menyiapkan obat anti rayap.

Masalah lainnya?
Okey, masih ada masalah lainnya ternyata.
1. Bagaimana nasib baju-baju saya?? terlantarkan di kasur, lantai, dan semua tempat yang mungkin.
2. Bagaimana nasib kamar saya?? berserakan barang-barang yang seharusnya diletakkan dalam lemari.
3. Bagaimana nasib saya?? menderita karena bau dan jatah tempat tidur yang sebagian diambil oleh baju-baju yang terlantar.

   

-nothing's good about cucumber-

It is PDF, not Word

Di tengah cuaca yang hampir tiap hari mendung dan hujan, bagi mahasiswa tingkat akhir bukan masalah. Hahaha. Walau badai menghadang sekali pun, semua rela dilakukan demi lancarnya skripsweet. Bahkan di hari libur, kampus tetap ramai!

Nah, kejadian tadi pagi yang akan diceritakan di sini adalah ketika saya datang ke kampus demi menyerahkan draft UP ke dosen pembimbing. Apa itu UP? UP adalah usulan penelitian yang merupakan proposal untuk melakukan penelitian dan menyusun skripsweet.

Karena dosen yang bersangkutan sedang sibuk dan saya pun tidak enak untuk mengganggu beliau, maka saya akhirnya tersangkut ke teman yang asik mengedit UP nya di kampus. Sebut saja dia X dan saya Y. X sedang mengetik di laptopnya dengan membuka dua windows dalam satu layar. Sebelah kanan adalah Word, dan sebelah kiri adalah PDF. Kami pun, X dan Y, mengobrol sambil membahasl tentang UP yang kebetulan memang seproyek dan tiba-tiba . . .

X: Loh? Loh? Kok gini sih? (sambil mengetik-ngetikkan sesuatu di laptop)

Y: Kenapa deh? (mendekat ke laptop X)

X: Ini nih, ngga bisa dihapus masa! (mencoba menghapus karakter namun memang tidak bisa)

Y: Mana? (memperhatikan) Lah! Itu kan PDF, ya ngga bakal kehapus lah..hhahaha

X: Ahaha, ah padahal selama ini udah ngga melakukan kedodolan. Tapi pas bareng Y kok malah dodol lagi yak..haha

[sesi tertawa bersama]

Yap, ternyata si X keliru mengedit. Dia berencana mengedit tulisan di Word yang telah ia ketik, namun tadi ia salah mengira PDF di sebelah kiri layar sebagai Word. Hihihi. Masih geli membayangkan kedodolan tadi :p

Aaaaaahhhhhhhhhhh, berwarna sekali hidup ini~

-nothing's good about cucumber-