February 29th - Rare Disease Day

In the US, a rare disease is one that affects fewer than 200,000 people. According to the National Organization on Rare Disorders (NORD), nearly 7,000 rare diseases affect nearly 30 million Americans.

This year, February 29, 2012 marks the fifth international Rare Disease Day 


On this day hundreds of patient organizations from more than 40 countries worldwide are organizing awareness-raising activities converging around the slogan “Rare but strong together”.  Activities will take place across Europe, all the way to Russia, continuing to China and Japan, in the US and Canada, and as far as Australia and New Zealand! 

Help to bring awareness to Rare Diseases by signing this petition.  You can also show your support by wearing zebra stripes! 

We just recently learned that zebras are symbolic for rare diseases.  I will be wearing my new zebra t-shirt (thanks Threadless + GAP) and Naveen will be in black.  :)  

From Wikipedia:

Zebra is a medical slang term for a surprising diagnosis.^[1] Although rare diseases are, in general, surprising when they are encountered, other diseases can be surprising in a particular person and time, and so "zebra" is the broader concept.

The term derives from the aphorism "When you hear hoofbeats behind you, don't expect to see a zebra", which was coined in a slightly modified form in the late 1940s by Dr. Theodore Woodward, a former professor at the University of Maryland School of Medicine in Baltimore.^[2] Since horses are the most commonly encountered hoofed animal and zebras are very rare, logically you could confidently guess that the animal making the hoofbeats is probably a horse. By 1960, the aphorism was widely known in medical circles.^[3]

Please Sign!

Please help bring awareness to rare diseases by signing this petition and asking your friends and family to do the same.  Together we can make a difference in the lives of children and adults living with rare diseases and ensure that they are not denied the medication they need.


WE PETITION THE OBAMA ADMINISTRATION TO:
ensure that off-label uses of FDA approved medicines are covered by insurance companies for Rare Disease patients


Health insurance companies are denying life-saving medicine to patients who suffer from Rare Diseases. A disease is considered rare in the USA if there are fewer than 200,000 patients diagnosed. The small numbers make it difficult to research medicines and cures. However, there are medicines already approved by the FDA (for other more common illnesses) that are prescribed for Rare Disease patients. Because the FDA hasn't approved these medicines for use with a rare disease, it is considered an "off-label" use and insurance companies are using this as a means to deny patients medical coverage. Please help Rare Disease patients get the medicine they need.

morning story

Thought we would share this video of Keira reading to Akemi.

 

 It's pretty sweet how she likes to include little A in everything.

Clinic Visit/Day Hospital

Yesterday evening Keira came down with her first fever since she was 8 months old! We knew it was inevitable that she would get sick at some point. Keira has had a slight stuffy nose for a few days but it's most likely she picked up something when she was at the hospital on Wednesday for the laryngoscopy/bronchoscopy procedure. :(

Tylenol made her comfortable enough to sleep and we already had our monthly visit with Dr. Effinger scheduled for today. When we arrived at LPCH her temperature was back up so the took us over to the Day Hospital to run some tests. Dr. Effinger knew she wasn't feeling well right away, as K wasn't talking a mile a minute and running circles around the room.

Although Keira was feeling under the weather, she was super brave and cooperative. Keira had to get a "poke" so that they could run a CBC. Immune suppressed kiddos are at a much higher risk for a blood infection. They also wanted to get a urine sample to check for infection. Keira's recent potty training came in handy as she was able to pee in a cup, and she tolerated the nose swab better than most adults would.

While we are still waiting on the influenza test results, her blood work looked great. Dr. Effinger/Dr. Twist felt that we needed to put her on another steroid for a few days to help her body cope with being sick. When someone is on long term steroids, as Keira is, the body doesn't know how to regulate steroids on its own. When we get sick our adrenal glands produce a different steroid to help with the stress of actually being sick so it's important we help K's body do just that. That meant that poor K had to swallow yet another nasty tasting medication. The promise of vanilla ice cream when we got home helped make it go down a bit faster. :)

As far as her OMS is concerned we are watching her closely to look for any symptoms. We had not noticed anything unusual the days before she got sick so we are keeping our fingers crossed that this will pass without a big flare up. It's so sad to see your little one not feeling like herself... Happy thoughts appreciated as always.

ENT

Back in December I took Keira to the ENT as suggested by the Speech Therapist.  She was concerned about the quality of Keira's voice and thought it would be a good idea for the ENT to take a look at what was going on.  I figured that Keira might have some vocal cord nodules associated with "voice abuse" because she is so loud and animated but just to be sure, we made an appointment to see the ENT.

After scoping Keira's throat, the doctor felt we needed to get some better pictures of her airway through a laryngoscopy/bronchoscopy.  He was concerned that with the multiple procedures Keira has had there might be a narrowing of her airway.  This is obviously something we would want to take care of before her next MRI in April, but since I was about to have a baby, we opted to wait for a few weeks.  :)

Today's procedure went very well and Dr. Koltai was happy to report good news.  No nodules - that cute raspy voice of K's is all hers.  :)  Keira's airway also looked clear and her throat is "healthy".

As an added bonus, Dr. Koltai cleaned all the built-up wax out of her ears.  Now we will see if she is able to start using that "inside voice" we keep telling her about.  We are scheduled for a follow-up hearing evaluation in March so I guess we will just have to wait and see.

Thanks for all the happy thoughts.  It's nice to know that Keira has so many people thinking about her and sending prayers.  We know it helps!

President's Day

You've gotta love President's Day when the whole family is off from work/school. Since we were all home, we decided that we better make the most of our Monday. Naveen and I thought that it was time to brave the crowds at our favorite brunch place before kids. The line for Mission Beach is usually ridiculous on the weekends which makes it a no-go for kids, but we thought that early Monday might be the perfect time to give it a try. We did get a table right away but the place was still packed!

 Here's a pic of Naveen/Akemi and Keira in her big girl chair,


After breakfast we grabbed lattes at Four Barrel and took a walk around the neighborhood.

 We met up with Mel, Loan and Ben after nap for some fun outside at Sutro Baths. 





 We made our way down to the beach

 and attempted to keep our feet dry as Mel fearlessly lead us to Park Chalet

 Ben and Keira stumbled upon a branch and together created, Fava, the beach tree.

 We did eventually make it for drinks and dinner.



 What a perfect day!
 
  Play slideshow - 15 
View photos in flickr

Akemi's 1st Hike!

We figured it was time to get outdoors with #2... Keira has been asking to go hiking and with such great weather how could we resist. Naveen loaded up Keira + Brown Bear


and I took the little one who pretty much slept through the whole hike.
 

 Family of Four Self Portrait, a little blurry but not bad for our first try - Happy Trails!

  Play slideshow - 27 
View photos in flickr

First family hike with Akemi

Akemi - Soft Focus

February Morning With The Girls

Just hanging out with the girls on this February morning.