What is a Rare Disease?

 By: Sue Anganes

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Rare Disease Day takes place every year on the last day of February. This year it will take place on February 29, 2016.

In the U.S., any disease affecting fewer than 200,000 people is considered rare. There are nearly 7,000 rare diseases affecting nearly 30 million Americans. In other words, almost one in ten Americans are suffering from rare diseases. Besides dealing with their specific medical problems, people with rare diseases struggle to get a proper diagnosis, find information, and get treatment. The rarity of their conditions makes medical research more difficult.

Rare Disease Day is always the last day in February. This year it falls on February 29, which is also Leap-Year! I have a very personal interest in the day because my two youngest sons have a rare disease. None of the specialists in the Boston hospitals could figure out what was wrong with them. They had seen over fourteen without an answer. They didn’t match the symptoms of anyone else the doctors had ever seen. For ten years we had no idea what was wrong with them. Finally, in 2013, we were able to have them evaluated at the National Institutes of Health in Bethesda, Maryland. The NIH is our government’s research hospital. The boys were accepted into the Undiagnosed Diseases Program there. We were flown down to Maryland by the NIH and both boys were admitted to the hospital for a week. They were enrolled in a research study along with the six other members of our family. We all had blood samples taken for genetic testing and had to sign waivers allowing our samples to be used for research now, and in the future if needed. During the week’s stay both boys underwent more tests than most anyone would go through in a year. They had; bone scans, skin biopsies, x-rays, MRIs, MRSs, spinal taps, CT scans, eye exams, EMGs, PFTs, EKGs, echo cardiograms, and neuropsychology exams. They saw ophthalmology, otolaryngology, pulmonology, neurology, cardiology, endocrinology, anesthesiology, dermatology, pain and palliative care, physical therapy, occupational therapy, speech therapy, and physiatry. This was all in a week!

The boys were extremely cooperative. They knew that this was the greatest chance they would ever have at finding a diagnosis. Many of the tests were uncomfortable. One son had a scary reaction to being under anesthesia. The other son had complications from the spinal tap. It was very hard. We had to actually stay an extra day because of the complications. We all were exhausted when we flew back home to Massachusetts. We were told when we left the NIH that it was possible that we would never get an answer to the boys’ medical issues; we could possibly know something in weeks or months, or it could also be the case that we would not have an answer for years. Nevertheless, we were hopeful. We now had the brightest minds of the world in neurological research working to find an answer for our boys.

A little over two weeks after we arrived home we received a phone call. “We think we know what is wrong with the boys!”.  From the spinal tap they had discovered that the boys have an extremely rare neurotransmitter disease- so rare that, to this date, there is no one else in the world that is known to have the same disease with the same symptoms. We were flown back down to the NIH for a trial of medication. We were so very hopeful that this would be the “cure”- the answer that would allow the boys to live a ”normal” life.  Unfortunately, as most with rare diseases, treatments are experimental at best, and often there is no treatment at all. The trial of medicine that the boys had did not work as expected. It did not help them at all.

We are now over two years since our visit to the NIH. They are still working on answers for the boys. We are awaiting a whole exome sequencing test which my help us identify what the gene mutation of their disease is. Nothing is simple or easy with a rare disease, however, we feel so extremely fortunate to have the resources that we have here in our country, and we are hopeful with the advancement of medical technology that someday we will have a treatment or a cure.

For more information on the NIH’s Undiagnosed Diseases Program: http://www.genome.gov/27544402

For more information on Rare Disease Day and to see their official video: http://www.rarediseaseday.us/

#RareDiseaseDay

 

 


Valentine’s Day Fun!

By: Danielle McFadden 

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This year, we are getting into the Valentine’s Day spirit early because I am due with baby #2 on the 16th (maybe sooner… or later)! It’s so much fun having a two year old in the house that loves baking and arts & crafts!

Zoe and I have decorated desserts and made Valentine’s to mail to our family. It’s fun to teach her about baking, ingredients and making things for people that you love.

On Saturday we had a party with five of her cousins and friends. We made cards and decorated sugar cookies. It’s so cute to see the little ones interacting with each other (ages 1-5)! And to think… Next year I’ll have another child to love!

What are you doing to celebrate Valentine’s Day?

Hint: If you’re looking for affordable Valentine’s Day crafts, check out the $1 area at Target. I got heart cards, glitter glue, foam and glitter hearts, stickers, etc. and likely it will last us next year too!

Valentine's Zoe 2


That’s not my doppelganger… it’s my twin!

By: Michaelene Koskela 

As humans it is not uncommon for us to meet people that have an uncanny resemblance to someone we know or love. Some folks make lucrative careers resembling celebrities. Often in life we have been told that we look or remind someone of somebody yet our paths never cross.

I however, was born 2 minutes after my doppelganger, she is my twin sister. So I have had the luxury (or curse) of having a sister share in pretty much all of my life experiences.  People who learn of my twin-ness are often intrigued by the notion of having a twin, and I am often bombarded with a series of questions. 99% of the conversations go like this…

You are a twin, like Siamese twins? Yes I am a twin but Siamese means you would see her NOW attached to me. I believe you are asking if we are identical or fraternal. We are fraternal. The conversation then gets odd discussing embryonic sacks. If your interest is peaked, Google twins. The internet is somewhat accurate on twin facts.

twinsIs your twin a boy or a girl? I have a twin sister.

Do you look alike? “No” is always my response, however at times in our lives we look more alike than others.  When my sister was pregnant we certainly did not look the same as I was not pregnant. Our height sets us apart as well but this does not help if we are not together my twin is 5’4” and I am 5’7”.

Were you born on the same day? Yes same day two minutes apart. It’s possible to be a twin and be born on different days.

Who is older? Michele is older by two minutes.

Can you feel her emotions? When we were small we mirrored each other this included emotions we also, spoke our own language.  We have had some extraordinary occurrences of reading each other’s thoughts or showing up unannounced at pinnacle moments. Luck, chance, sibling intuition or clairvoyance it can be any all or none but we certainly have been and continue to be connected.

Have you tricked people i.e. Boyfriends, college professors or friends? Never intentionally, but we did fool people. Let the record state my sister and I never had the same taste when it came to our dates. However, our college days we made the fraternity party guest lists often and would be showcased in photos as book ends.  Elementary school teachers had often taken us from classrooms or lunchrooms in error believing one to be another, the looks on the teacher’s faces as they stare at two of us trying to make sense of what happened was always entertaining. Michele and I have grown up together and as adults lived separate in different states, hours apart, and currently 20 minutes from each other.  To this day complete strangers will approach me in public asking me how the family is doing and within moments its realized they know my twin.  It has been learned that it’s better in these awkward moments to go with the flow; if opportunity presents itself that I may carefully explain that I am Baby B not Baby A then I do so. Most cases the stranger is beyond embarrassed to learn that I am not who they think I am it has been better to be cordial and answer the questions as if I am her and she also does this as if she is me.

Being a twin is unique but I certainly do not know any different.

Excuse me my phone is ringing and with certainty it’s my womb mate, she will ask why I am writing about us.


Just For Today

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By: Amy Dienta

Lately I’ve been writing recipes for this blog because putting down my more personal thoughts on paper is hard. This last year has been a maze of appointments, therapists, and IEP meetings. I don’t want to stop and think about any of this. I just want to see my son for who he is… my little boy.

A boy who loves cars tremendously, and loves to cuddle with me. A boy who has his issues, but has grown and learned so much over the past year. A boy who gets mad because his pizza doesn’t have broccoli on it. That’s my son! That’s my child.

It’s not that I don’t want to see the pieces of him that are different, I just want for one day to not see them. Just for one day to drop him off at school to play on the playground and not for therapy. Just for once I would like to not have to deal with poop. I want to just forget it all.

So for today I’m going to take him to paint pottery, play video games, and out to lunch. Just me and him. I’m going to hug him and tell him how awesome he is, and how proud I am to be his mom! We will deal with the problems and issues another day! 


Slow Cooker Chicken Taco Soup – RECIPE

By: Sue Anganes

What’s my new favorite go-to recipe for something nutritious and super easy to make? Chicken Taco Soup! This cold weather season I’ve already made it for a pot luck supper, New Year’s Eve, a busy-day dinner, and next, I’ll make it for Super Bowl Sunday!

It’s been a hit each time, and I almost feel guilty saying that I’ve made it because it’s so simple to put together.

photoIngredients: 

1 Chopped Onion

1 (15 ounce) can chili beans (rinsed)

1 (15 ounce) can black beans (rinsed)

1 (15 ounce) can whole kernel corn, drained

2 (8 ounce) cans tomato sauce

2 (10 ounce) cans diced tomatoes with green chilies, undrained

1 (1.25 ounce) package taco seasoning

3 whole skinless, boneless chicken breasts

1 (8 ounce) package shredded Cheddar cheese (optional)

sour cream (optional)

crushed tortilla chips (optional)

Directions:

First:
Place the onion, chili beans, black beans, corn, tomato sauce, and diced tomatoes in a slow cooker. Add taco seasoning, and stir. Lay chicken breasts on top of the mixture, pressing down slightly until just covered by the other ingredients. Set slow cooker for low heat, cover, and cook for 5 hours.

Next:
Remove chicken breasts from the soup, and allow to cool long enough to be handled and then shred them. Stir the shredded chicken back into the soup, and continue cooking for 2 hours. Serve topped with shredded Cheddar cheese, sour cream, and crushed tortilla chips, if desired.

(This recipe is fine for a smaller sized slow cooker. I have a seven quart slow cooker to feed my large family so I substitute 28 ounce cans of chili beans and black beans for the smaller sized cans in the recipe.)


Goal Setting for 2016

By: Danielle McFadden AAEAAQAAAAAAAAW6AAAAJGJmMzJmOGM2LTZjOWYtNDVmNC1hYTEyLTc5ZjAxOWJhMGVjYg

It’s hard to believe that it’s 2016 already… I have to admit, the novelty of a new year never gets old for me. It provides endless possibilities both personally and professionally (who doesn’t love a clean slate?) I always enjoy looking back at the past year to celebrate any positive changes I’ve made and to take a long hard look at why some of my resolutions and goals fell flat.

January is the perfect time to set aside a few hours to reflect and plan. Get out a notebook or your computer and ‘brain dump.” What were your successes over the past year? What were your shortcomings? What do you hope to accomplish in 2016?

This coming year I’ve decided to get very serious about goal setting so I came up with a to-do list of sorts. And like always, I’m willing to share! (Sharing is caring. ;-) ) Here are my to-dos, AKA tips:

Create a plan that includes a realistic number of goals: Come up with a carefully crafted plan that includes 1-3 longterm goals. These goals can be broken down into smaller mini-goals that will help you achieve your longterm goals in manageable bite-sized pieces. 

Be specific: The more specific your goals are, the more likely you will achieve them. For example:

  • Broad Goal: To make more money.
  • Specific Goal: To make $100,000 in my business from January 1-December 31, 2016.

By being specific you are giving yourself something tangible to work towards and this will help you with many of the other goal setting tips mentioned below.

Be realistic: Set yourself up for success, not failure, by creating goals that are tough, yet obtainable. You want your goals to put a fire under you, but you don’t want to burn yourself in the process.  

Give yourself a timeframe: When you write down your goals and come up with your plan, give yourself deadlines. By putting deadlines on your longterm goals or minigoals, you are giving yourself a specific timeframe to work towards. Simply putting by the end of 2016 gives you 365 days to procrastinate and sets you up for failure.

Review your goals regularly: Take out your phone or calendar and schedule a time once a month to review your goals. This will motivate you and make sure you are accountable to your numero uno – YOURSELF

Track your progress: Throughout the year and during your monthly reviews, make sure you track your progress by writing down your accomplishments and setbacks. No one is asking you to be perfect, but that doesn’t mean you can’t strive to achieve the goals you created during the magical transition from 2015 to 2016.

Get others involved: Increase your accountability (and chances of success) by sharing your goals with others. This may mean getting your staff involved, telling your spouse or significant other (ask them to join you during your monthly review) or utilizing your social media following by giving them regular updates (you could even use #2016Goals when posting).

Celebrate your successes: Find something that motivates and excites you and make that your celebratory treat! It could be as simple as a pedicure or night out at the movies. Anything that symbolizes you giving yourself a pat on the back.

Be positive and believe in yourself: If you don’t believe in yourself, how can you expect others to believe in you? There are so many people that will play a role in helping you achieve your goals this coming year, both directly and indirectly. Stay positive and believe in yourself and others will naturally be drawn to that.

What are your goals for 2016? I’d love to hear them in the comments below or tweet me at @DMcFaddenLowell.


Staying Healthy This Winter

If you’ve tuned into the news lately, you’ve probably been hearing a lot about the norovirus. Over 120 cases of the highly contagious virus have been reported in Boston after several people were infected at a local restaurant.

sink-400276_640In an effort to keep everyone healthy, we’ve put together this helpful guide:

How It Spreads:
Norovirus is highly contagious and is spread by contaminated food, improper hygiene, and contact with contaminated surfaces. You can get the norovirus illness multiple times in your life. One reason for this is that there are many different types of noroviruses. Being infected with one type may not protect you against other types. Norovirus can spread quickly in closed places like daycare centers, nursing homes, schools, and cruise ships. Most outbreaks in the United States happen from November to April.

Symptoms:
If you come down with a norovirus infection, you’ll probably go from being completely healthy to feeling pretty miserable within a day or two after being exposed to the virus. Typical symptoms include:

  • Diarrhea
  • Vomiting
  • Nausea
  • Stomach cramps
  • Fever
  • Headache
  • Body aches

Treatment:
If you suspect you have the norovirus, you should consult your physician immediately. Typical treatment includes, drinking plenty of liquids to replace fluid lost from throwing up and diarrhea. This will help prevent dehydration. If you think you or someone you are caring for is severely dehydrated, call the doctor.

Prevention:
Good hygiene is the key to preventing an infection with norovirus, especially when you are in close surroundings with a lot of other people. Wash your hands often with soap and water for at least 15 seconds, or use an alcohol-based hand sanitizer, especially after going to the bathroom or changing a baby’s diaper and before you prepare or eat food. Carefully dispose of any contaminated items (such as dirty diapers). If you have norovirus, don’t prepare food for at least two to three days after you feel better. Try not to eat food that has been prepared by someone else who is sick.

By learning a little bit about how the norovirus spreads, what causes it, and what you can do to lessen the risk, there’s a good chance you can help keep this menace in check.


Spinach and Broccoli Calzone – RECIPE

By: Amy Dienta

I love this recipe and surprisingly my kids eat it too! It has lots of vegetables and I usually serve it with a salad. 

Ingredients: 

2 cans of refrigerated pizza dough 

1 bag of shredded mozzarella cheese 

1 bag frozen broccoli 

1 bag frozen spinach  

1/2 stick butter 

1 onion diced

1 tsp crushed Garlic 

Salt and pepper 

This makes 2 large calzones 

Instructions: 

- Preheat oven to 350 

- In the microwave defrost the frozen broccoli and spinach then strain all the water out of the vegetables, by pressing on the strainer with a spoon. 

- In a fry pan add a pad of butter and the diced onion, crushed garlic and salt and pepper 

- Add vegetables to the fry pan 

- Heat on low for 5 minutes stirring occasionally 

- Spray a cookie sheet with cooking spray 

- Open the can of pizza dough and spread on the cookie sheet 

- Add the cheese to the pan and mix everything together 

- Pour over the vegetable and cheese mixture on one side of the crust and fold the rest over the top

- Seal the corners by folding the dough and pressing it together 

- Melt butter in the microwave and brush on top of crust 

- Bake for 15 minutes or until the crust is golden brown 

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