Browsing the archives for the cancer tag

Take This Moment…

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News, feelings

Ok, so, again, I am just soooo not good at keeping on top of a blog. I think I have to accept the fact that I will never be one of those people who write something here every day. We have had so much happening of late… the last month or so has just been utterly chaotic.. but I will talk more about that later… maybe.

Right now, I want to talk about a friend.

This friend probably isn’t what a lot of people would consider a friend. I have never stood in the same room as her, nor have I heard the sound of her voice. I have never held her hand or hugged her, I don’t know what sports she follows or what music she listens to, but we share a common ground that is so deeply entrenched in our hearts and souls that none of that seems to be very important.

We both have daughters that are HRAS positive.

Our precious daughters are almost the same age, they even share some of the same traits… the same gorgeous smile, the same big eyes and the same sunny outlook on life… but that’s about where the similarities in our lives end.

Tonight, as I watch my daughter sleeping in her bed and reflect on how far we have come and how far we have to go, my friend is watching her daughter sleeping and reflecting on the fact that her life is nearing an end.

You see, my friend’s beautiful, precious little girl has cancer that cannot be treated and they have made the heart wrenching decision to let nature take it’s course.

I cannot even begin to fathom the immensity of this decision, or the emotions that they struggle with on a daily, or even hourly basis, yet she does it with poise and grace. I read her emails and I cannot help but cry because even now, in her deepest hour of need, she is not only a friend, but a teacher, using her own pain to help guide others on this journey.

And with such a good and gracious person as a teacher, how can I not be a student?

Indeed, from her words, I have learned a great many things, some of which I already knew that have been reinforced in my heart, and some which are new words of wisdom that I am holding fast to.

I have been reminded that every moment is precious. We never know that is just around the corner. It is time now to hug my children, play with them, make them smile, make them laugh. Revel in the joyousness that is the foundation of new life, spend time with my partner and just delight in the little things that make us both smile.

I have learned to appreciate therapy and medications and doctors visits and all of the other stuff that comes with this life that I have had thrust upon me, for even though I may curse these things for being the bane of my existance on a day to day basis, but each time I curse these things I am also reminded that I have her in my life. I may despise therapy, but every day we do it is another day that I still have my daughter.

I have learned that even in the face of adversity that may seem impossible to overcome, I will find a way to get through. I have the strength and courage of a family with wisdom that spans half a century and encompasses the face of the globe, all of whom will be standing with me when I need them.

Nicola and her medical complexity may have turned my life inside out and upside down, and it may have challenged everything I ever thought I knew in my life, but it has also brought me friends and family who have become an important part of my life.

I may not see them every day, or even every other month. I am lucky if I see some of them every other year. I may not know their faces or hear their voices, but they are still in my thoughts every day. I laugh with them in their moments of happiness and I cry with them in their moments of pain, but most of all, I am just thankful that I have them as friends.

Now… with that, I have three sleeping children, medication has been given and feeds are up to date… so I am going to go and enjoy a few moments of precious sanity, savour a nice warm shower in this faux winter and then curl up in bed with a good movie and enjoy some nice spacious sprawl time before all of my off spring end up in my bed, which will be in about two hours and thirty seven minutes, give or take a few seconds.

But I leave you with this…

Take this moment and own it. Cuddle your children, kiss your partner, eat that piece of chocolate, and revel in the small things… don’t take a single moment for granted, because you never know what tomorrow will bring.

Posted By Jodi B, Australia

So What is the Ras/MAPK pathway

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News, fund raising

 

On September 10th 2010, we will be launching a new network in the UK, the RASopathies Network. The launch is being held at the house of Lords in front of an invited audience of health professionals, and families effected by one of the syndromes that make up this class of genetic disorders. So what are ‘RASopathies’.

Recently a class of developmental syndromes, the ‘RASopathies’, is caused by germline mutations in genes that encode protein components of the critical signal transduction cascade, the Ras/mitogen activated protein kinase (MAPK) pathway. At present, these syndromes include:-

  1. Noonan syndrome
  2. LEOPARD syndrome
  3. Hereditary Gingival fibromatosis
  4. Capillary malformation-AV malformation syndrome
  5. Neurofibromatosis type 1
  6. Legius syndrome
  7. Costello syndrom
  8. Cardio-facio-cutaneous syndrome
  9. Autoimmune lymphoproliferative syndrome

The Ras/MAPK pathway is essential in the regulation of the cell cycle, differentiation, growth and cell senescence, all of which are critical to normal development. Therefore, it is not surprising that its dysregulation has profound effects on development. Each syndrome is this calls of developmental syndromes, exhibits unique phenotypic features, however, since they all cause dysregulation of the Ras/MAPK pathway, there are numerous overlapping phenotypic features among the syndromes, including characteristic facial features, cardiac defects, cutaneous abnormalities, neurocognitive delay and a predisposition to malignancies.

Dr. Kate Rauen
UCSF
June 28, 2009

That is a LOT of syndromes, and collectively around 1 in 1000 people will be effected by one of these syndromes.

Understanding this pathway is very important for the simple reason that through the understanding of the RASopathies provide  a valuable insight into normal human development, including many aspects, of Cancer, and other human disorders .

We  need your donations which will be used to develop the new RASopathies network, a long term aim is to develop a research trust,  but to do so we need your help, please make a donation to the International Costello Support group who are one of the lead organisations working to build this unprecedented network.  all donations no matter how small,  will help.

It is easy to donate, and any donation cab be gift aided to us, making your donation worth 20% more then you give.

Thank you

Visit the following links for more information

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2743116/
http://www3.interscience.wiley.com/journal/123210941/abstract?CRETRY=1&SRETRY=0
Noonan International
CFC International
The Neurofibromatosis Association


Helaina’s Story

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about, feelings, random ramblings

Thank you dear reader for visiting this small place on the internet.

I was asked a question today about the significance of the dance video I posted yesterday.   It is hard to express in words why this simple act of dancing in a competition was such a significant event.  So I finally decided to make this short video public. The video was made for the medical symposium held along side the 2009 conference.  I will leave the video to express the feeling and emotions as to why the dance competition was so important.

ZACKARY ADAMSKY – Fighting Childhood cancer one cup at a time

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News

hero_adamsky_zackaryZackary Adamsky was born on October 14, 2005. In 2006 he was diagnosed with Costello Syndrome, which is a multiple congenital malformation syndrome that has only been reported in about 300 people around the world.

The gene that mutates in Costello Syndrome is the H-Ras gene which is a cancer gene. Zackary was diagnosed with Rhabdomyosarcoma of his abdomen and lung on May 9, 2007.

Because of the complexity of Costello Syndrome, Zackary suffered many surgeries and other life threatening illnesses beside the cancer, such as Hypertrophic cardiomyopathy, 2 brain bleeds, 2 broken femurs, a tracheostomy and relied on a ventilator to help him breath.

Zackary spent a year and a half at AI duPont Hospital for Children, only going home for a total of 3 weeks. Zackary endured so much pain and suffering; he was a very strong little boy who had big brown eyes and a beautiful smile. Everyone who took care of Zackary instantly fell in love with him and was inspired by his will to live. Zackary relapsed in August 2008 and became an angel on September 29, 2008.

Written by: Andrea Adamsky, Zackary’s Mother
Posted: 01/09