About Me

Global Genes Project

Rare disease

February is an important month for us for many reasons, but one of them is that Rare Disease Day is the last day of the month.  Those of you who know us know that one of our family members has a rare genetic disorder.

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Genetic diseases are not very well understood by the general public and for good reason.  It is only recently that the medical and scientific fields have begun to understand the human genome.  The completion of the Human Genome Project in 2003 provided, for the first time, a completed sequence of all 3 billion base pairs which make up human DNA.  The goal of this project was to provide the tools to understand genetic factors in human disease, allowing for new strategies in their diagnosis, treatment and prevention.  One of the tools that became available as a result of this project was genetic testing.

Genetic testing is a medical test that identifies changes in chromosomes, genes, or proteins of human DNA.  Once identified, these changes lead to a diagnosis of a genetic disease.

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Not all genetic diseases are rare.  Some, such as Down’s Syndrome (trisomy 21), are common and you are probably familiar with them.  Rare chromosome disorders include extra, missing, or rearranged chromosome material in smaller and more complex areas of DNA than those associated with more common genetic disorders.  Individual types of chromosome disorders can be quite rare.  When my family received a diagnosis of a chromosome deletion from one of the best hospitals in the country, we were told that there were 11 other identified cases at the time.  Currently, the availability of testing has increased this number.

Symptoms of a genetic disorder often include physical problems, health problems, learning difficulties and behavioral issues.  The extent each individual is affected in these areas depends upon the specific genetic material affected.  Even then, individuals missing the same amount and location of genetic material exhibit an array of different symptoms.  This makes treatment a challenge.  Research is greatly needed to better understand these disorders.  Currently, it is estimated that 95% of all rare genetic diseases do not have an FDA approved drug treatment.  In fact, there are less than 400 treatments approved by the FDA for the almost 7,000 rare diseases that have been identified.

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The Global Genes Project  was created to promote awareness of rare genetic disease in the general community and within the medical field.  When a patient receives a diagnosis of a rare genetic disorder it is more than likely that their general practitioner will never have heard of it.  Even local hospitals and treatment facilities are usually unfamiliar with these rare diseases.  This makes treatment of both symptoms related to the disorder and everyday illnesses very difficult.  When we received our diagnosis, our geneticist told us “we will learn from you.”

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Although individual rare disease diagnoses affect a small number of people, collectively over 30 million people in the United States have been diagnosed with a rare genetic disorder.  Help promote awareness of rare genetic disorders this February 28th by wearing jeans or a jean ribbon.

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I Did It All

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I owned every second that this world could give. I saw so many places, the things that I did. Yeah, with every broken bone, I swear I lived.

I think this is what we all try to do, right? Make the most of every moment. The boys and I try really hard to be mindful of how we are using our time and to be present and engaged in our lives. Sometimes this is not so easy!  There is a lot we can worry about if we want to. There are also so many distractions and multitasking demands that engaging sometimes takes effort.  But it’s worth it.

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It’s February! That means that Rare Disease Day is coming up. It’s always the last day of this month. This is a day to raise awareness about rare diseases and their impact on the lives of those diagnosed with them. You can read more about the rare disease that effects our family here.

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Remember to wear jeans this February 28th to support those with rare genetic conditions.

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Morning People

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I need that cup! Or Stephanie, I needed to borrow your coffee cup this morning. It was definitely a two large cups of coffee day! (It’s fair to call it two large cups and not three cups because my Keurig only makes tiny portions!) Are you a morning person? As you may have guessed, I am not. I don’t “wake up” until at least 10am, unless I am running. In all fairness though I can stay up all night with no problem. It seems like there are morning people and night people. You never really hear anyone say they are an afternoon person! What are you? I would love to know if there are any midday people!

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Did you watch the Super Bowl last night?  Such an exciting game! The commercials really got me this year. So many took on tough issues and made you think about things. This one was my favorite.

#runlikeagirl. Sometimes we just accept things without thinking. This ad really made you think about what we are mindlessly doing to young women. I don’t think most of us would actually say these things if we thought about the impact it was having. Women have come a long way in our society, but I really believe this ad is just the tip of the iceberg. The truth is that women are not given the credit they often deserve. Too often they are marginalized and told by the media and popular culture that their value is directly related to how they look rather than what they can do. I hope ads like this one and the Dove Real Beauty campaign from a few years ago keep coming!

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This weekend we had our final player development indoor soccer practice. Next, on to Futsal!

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Dane and his friends thought riding their bikes around the community center at Scouts was a great idea for a February day. My favorite was the race to ride the slowest! It is not easy to ride a bike slow – try it.

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Remember these days? This time of year I am often dreaming of summer.

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It’s actually pretty warm out today. I’m heading out for a run, of course!

So, I am wondering, do you think we (as a society) send the wrong message to girls/women?

My New Venture

This year I started a new venture that I am really excited about.

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I love coaching soccer and I even enjoyed coaching basketball for a while. And you all know how much of a crazy fitness person I am!  So it just made sense for me to help other people get healthy too. If you want to hear about it, check me out here.

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I have been using Beachbody products for a while now, so I know they work. My favorite home workout is PiYo – a low impact Pilates/ Yoga inspired workout that sculpts and strengthens your entire body – especially your core.

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I am kind of known by my friends for being a “bar girl.” Protein bars, of course! So adding Shakeology to my repertoire last year ensured that I get proper nutrition even on those days when I am too busy to make a well balanced meal. It is more than just a protein shake because it is also filled with antioxidants and superfoods. As a bonus it is only 160 calories a shake!

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Of course I started with Beachbody as part of my New Year’s resolution to lose some weight last year. The 21 Day fix is the gold standard if you are looking to change to healthy eating habits long term. It teaches you what is the right portion and the ideal quality of food to stay healthy. Plus it gives you great at home workouts.

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This program also gives you an amazing support group of inspirational people that want you to succeed and will motivate you to stay on track.

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I bet you have heard of the BeachBody programs before and know someone that they worked for.

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If you are interested in getting healthy this year, let me know. I would love to be your coach.

The New Style

We have a new fashion trend going on in our house.

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Aidan joined me and our sweet little girlfriend today in the boot club. Shockingly, yes, he fractured the same ankle I did. Dane has been strictly forbidden to join us. Someone has to get all of the doors! (Poor kid).

I have discovered that it is almost impossible not to secretly race the person in the lane next you while swimming. There really is nothing else to do while you are there. Someone told me that there are water proof headphones. I wonder if they work? Today I was chatting with Annette for a while (no, I didn’t race her!) after she finished water zumba. She is in the pool now because she hurt her elbow doing yoga. Not too shabby for 84!

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Guess what I found on our latest Philly trip. One of my favorite wines! George DuBoeuf Beaujolais Nouveau. This wine is released every year right before Thanksgiving and celebrates the first wine of the new vintage. It reminds me of my first trip to Paris, a rainy long weekend in the middle of November. This new beaujolais was just released and it was being celebrated everywhere we went. Now I look for it every year around this time.

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Can you imagine having this as a Christmas tree? Its so beautiful, but probably not practical with boys. 😉

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Hope you have a great Thanksgiving!

So, I am wondering, what is your Thanksgiving tradition?

Time To Get Real

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My kids are getting pretty tired of hearing about this as we drive through the neighborhood! Unfortunately it is still going to be a while for me.

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Today is day 1. Again. My orthopedic doctor finally reviewed my MRI and decided I need to be in a boot for 6 weeks and on crutches for 4 weeks. The good news is that then my stress fracture should really be healed. A good friend of mine advised me to start a countdown and I think that is a really good idea. So I guess that makes today day 42.

The other good news is that it is winter and I can wear a real boot to match this one. I can’t even imagine wearing this in the summer! But tall boots are not a bad option at all right now!

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If you need me, you can find me in the pool for a while.

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We have a busy weekend ahead, including the Cub Scout BB gun target shooting event that I plan. I’m excited for it. Hope you have fun plans too!

Long Drives and Soccer Medals

Monday was Philly day. Aidan and I have been taking long drives like this together since he was a baby. Yesterday it occurred to me that in 10 years, we have done this a lot! We are now old pros. If you had told me even 5 years ago that we would still be doing this, I would not have believed it. But I love this special time with my guy.

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Of course while we were there we stopped for falafel.

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We now consider this “our” food truck. I don’t think the real owners would mind, right?

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Soccer medals are in! If you are on my team, don’t tell the boys. We have had a pretty perfect season. I think everyone – players and parents – would agree. If you coach or lead any type of kids group, you know it doesn’t always work out that way. I am so lucky to have such great people on the team this year.

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Aidan is getting a medal too (shh – he doesn’t know). He has been to every practice and every game, even in the rain.

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I hope our spring season goes as well.

So, I am wondering, what winter sports do your kids play?

Soccer

It’s been a while since I have told you about my soccer team.  I am still coaching Dane’s U9 travel team, the Hurricanes. I LOVE coaching him and we honestly have an amazing group of boys this year.

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One of our players was injured today and we missed him. The rest of these boys played their hearts out. We won by 4 goals and the boys definitely deserved the win. I am amazed at the progress they have made this year. They are all wonderful kids and I love watching them mature as soccer players. I am so proud of Dane’s work in goal too.

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We are having a great season with only one loss. My assistant is an old friend and a well respected coach – you might recognize him.

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So that’s my update on our season!  Can you tell I am proud of these guys?

Aidan had a great day today too. One of his friends hosted a nerf war at the local fields. What a great idea! Of course the boys loved it.

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So, I am wondering, did you get outside today?

About Me

Welcome to Cashmere Miles, my blog about running, knitting, fueling and other random things that make me happy.  This is me, Colleen, with my two favorite people, Aidan (left) and Dane (right) at my running club’s St. Patrick’s Day 5k – Shamrocks for Sandy.

Shamrocks for Sandy 5k 2013

I have been running for as long as I can remember, but just started racing in August of 2012.  In the last year I have joined a running club and completed 8 races, including my first half marathon!  This is me after I won my first third place medal in a 5k.

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I am also a knitter.  I love soft yarns in beautiful colors and turning them into something that someone will love.  I mostly knit things I think will make the important people in my life happy.  I have a fascination with knitting felted purses though.  These are a couple of my most recent ones…

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I hope my blog inspires you or brightens your day a bit.   Until next time…

 

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