Wednesday, February 29, 2012

Really Rare...

"It's rare, really rare."  "Don't look it up, it's probably a mistake it's so rare."

These were the words of Max's first pediatrician, relaying the striking results from the metabolic tests that had just been run on Max's blood and urine samples.  We had barely made it home from having the blood work done before the phone was ringing.

It was rare, Methylmalonic Acidemia, with Homocysteinuria.  We were told later that week that Max was 1 of about 250 known cases in the world.  We also learned later that week that Max had yet another rare disease called West Syndrome, or Infantile Spasms.

Within a matter of days, our little baby, who was perfect had the world of rare diseases paying attention to him.

He wasn't supposed to live.  That's what they've told us time and time again.  As sick as he was, he should have had more damage to his organs.  With as many seizures as he was having daily, he shouldn't have as much cognitive ability as he does.

In more recent years, the bowel issues he's had, Chilaiditi Syndrome - yes, another rare disease - could have caused severe damage or taken his life the three times it flared without fully understanding what was happening to him.  As well as the type of epilepsy he now has, Lennox- Gastaut Syndrome.  Sometimes I think we've hit the jack-pot of rare diseases with our boy.

When Max was diagnosed around this time eight years ago, I know we must have been in the ICU at the time.  We must have spent February 29th in there.  But, I had no understanding of the world of rare diseases.  I just knew I had a very sick baby, with new diagnoses that very few doctors specialized in.

We didn't know how lucky we were that he was alive.

We didn't know how lucky we were that the best doctors in the world for both of his new diagnoses were the very ones who took his case when we brought in our baby who wouldn't eat and "shook" a lot.

We didn't know how lucky we were that both of those doctors took a gamble on Max.  We didn't know then, that the treatment was cutting edge.  Aggressive treatments, for aggressive rare diseases that were trying to take over, and take our son away from us.

We didn't know those things then, but we do know them now.  And with that knowledge, we have chosen to share our story the world over.  Our story, Max's story, could have been anyone's.  Man and woman fall in love, have a baby.  It happens every single day.   We certainly had no reason to believe that we were both carrying a recessive gene that would severely disable our child and give him multiple rare diseases.

Awareness about World Rare Disease Day is important to our family.  The more doctors, medicine makers, legislatures know and truly understand the Rare Disease Community, the better the diagnosing, treatment, and support will be for those who are living with rare diseases.  The rarity of these diseases makes research more difficult.  Without research, there can be no cure.  Without a cure, those living with rare diseases, will one day die from them.


  • Less than 5% of rare diseases have treatments or therapies. 
  • 350 Million people have rare diseases; more than all cancers and aids combined. 
  • 7,000 identified rare diseases have no cure. 


(source Global Genes Project)

We were lucky.  We had doctors who were aware.  Max has been involved in studies to find a cure.  Max is treated at an exceptional hospital.  But, not everyone is lucky.  Not every child diagnosed will get the treatment they need because it's not a common childhood illness.

We are lucky, but we still must speak up.  We still must educate every new doctor on our son.  Because the diseases that are on his medical chart do not define him.   We still must educate, because the "orphan drug" medicines he's on can, and have gone away in an instant, because the companies can't continue to make them due to low demand, and low profit.

We must speak up because even though Max is a rare bird, his life still matters, just like those of his friends who share similar diagnoses.

If you would like to learn more about rare diseases, check the links below.

http://rareproject.org/

http://www.rarediseases.org/

http://rarediseaseday.us/


To take a quote from Rare Disease Day, "Alone we are rare. Together we are strong."


My friends at Miracles for Mito are having a giveaway for a bracelet from the Rare Gene Project's 7,000 bracelets of hope on their webpage.  Follow over to enter. 


1 comment:

Amanda said...

Great info and thanks for letting me use your lovely definition over at my blog, for my RARE post!