What Color IS this Ribbon?!?!?

What color do you see?  Blue?  Denim?  Navy?  If the name wasn’t on it, would you have any idea what this is?

Liss ribbon

This week, this dress was EVERYWHERE online.  I am one of the many who debated its color.  I even had my husband in on the discussion.  (He sees blue and black, I see white and gold by the way).

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Tumblr/Swiked

It was everywhere.  People in homes, business, schools, and churches were talking about it.  It made the major news programs.  The sports talk shows were even discussing this dress in lieu of scores and highlights.

Why am I bringing it up yet again?  Because that dress got more attention in 24 hours than Lissencephaly will likely ever get in my life time.

Rare diseases like Lissencephaly do not get a lot of attention.  As parents, we are often stuck searching for information online, or from families who have gone on a similar journey.  Many doctors understand the basics, and if you explain the main issues they can quickly infer what they need to in order to help you with emergency treatment.  But unless you are fortunate enough to find a specialist who has a true familiarity with it, they don’t know a lot more than those basics.  They are stuck quoting the two-year life expectancy, because they’ve never seen it beaten.  Week after week our facebook group sees new parents introduce themselves, scared to death because all they can find are frightening statistics, and discouraging reinforcement.

This isn’t a Lissencephaly problem. This is a “rare” problem that isn’t rare at all.

Rare diseases are EVERYWHERE too.

Here are some facts that are likely NOT to go viral, because they are a bit too hard to stomach:

  • Approximately 50% of the people affected by rare diseases are children
  • 30% of children with rare disease will not live to see their 5th birthday
  • Rare diseases are responsible for 35% of deaths in the first year of life
  • Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease

(Source):  http://globalgenes.org/rare-diseases-facts-statistics/

The harsh reality is the funding isn’t there, and I sort of understand why.  I understand economics.  I understand rates of return.  I understand getting more bang for your buck by focusing on larger more common issues.  Numbers are my thing.  I GET IT.

But once you’ve been introduced to this world.  Once you’ve seen the faces of these precious children, some of whom have a genetic mutation that is so rare it doesn’t even get a name, much less a ribbon.  Once you’ve seen the heart breaking pleas of some of the hardest working, most caring parents I’ve ever encountered…YOU CAN’T POSSIBLY GET IT.

You can only wonder why there aren’t more options.  Why there aren’t more effective medications.  Why there isn’t more support.  Why you have to fight insurance companies and programs and spend more time being an advocate than a parent.  You wonder why a white and gold dress garners more attention than these two precious faces and the millions who are fighting similar battles:

RARE

The majority of you reading this likely can’t research cures, treatments, medicines, or therapies.  Maybe you think you can have no impact at all.  But you can.

You can love them despite and because of their battles.

You can help the families see that rare or not, these individuals and those who love them matter to you.

You can care about rare.

Ketogenic Diet: Our Next Normal

We’re wrapping up our first full week on the diet, and I think we’ve gotten “settled” in to our next normal.

You can read more about the ketogenic diet here.

In short, the boys are now consuming a diet of fats to protein + carb at a ratio of 3 to 1.  (3 parts fat to 1 part protein + carb).  The idea is to keep them in a state of “ketosis”, and switch how their bodies are being fueled.  Carb consumption in excess can take them out of ketosis, which would be similar to skipping a dose of meds.

I spent much of Friday going through our products to determine what is keto friendly and what is not.  The “not’ pile was far larger.  Once you start looking, it is surprising how many products contain carbs, (often in the form of glycerin derivatives, or sugar alcohols).  In addition to their food and drinks, some of the items we had to swap out included lotion, shampoo, diaper cream, chapstick, liquid medications, and toothpaste.

We’re set up for tomorrow with a day’s worth of bottles mixed, and a nice fattening snack prepared for tomorrow afternoon.  (Squash plus butter).  The powder meds are easy enough to handle.  Twice a day, we will test their diapers (via cotton balls and ketostix) to ensure they are still in ketosis.  Our next normal.

The hope is of course that this will reduce or even eliminate seizures and infantile spasms.  If it goes well enough, it would be wonderful to reduce their prescription seizure meds (Onfi, Keppra, and Sabril currently).

I know it is early, and I know I am endlessly hopeful.  But neither J nor I have seen a seizure or spasm the last couple of days.  Focal seizures are somewhat rare.  So going a few days without one is of course wonderful, but it is not out of the norm.   Spasms, however, occur daily.  Usually 5-10 times per day for Nolan, particularly when he is waking up.  There’s a good chance we missed some activity.  But even if we did, it was still “less”.  Or “better”.  A step in the right direction.

We are praying that their bodies continue to tolerate this plan well, and that we see the improvements we’ve been seeking for so long.  Thank you for your thoughtful words and support this week and always.

Some of the new "stuff" to organize

Some of the new “stuff” to organize

Who will be kicked off the island?

Who will be kicked off the island?

Ready or not, here Monday comes!

Ready or not, here Monday comes!

Not everyone is sugar free around here these days though.  I so enjoyed getting to spend time with K after a week apart.  He made these masterpieces!  Sugar or not, we’re blessed with three sweeties.

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Ketogenic Diet – Home!

In case you missed it on Facebook, we are home! We got home last night after a successful 3rd day.

Today has been a busy one, but we are getting settled, and ready for our next normal.

I’ll give you more details later, particularly some of the changes we are making.

In the meantime, here was our bundled crew ready to face the cold and head home!

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