March 10, 2014

The results!

Drum roll please......

Just kidding!  I just feel like we all have been waiting for this moment for 2 1/2 yrs.  Oh wait, we have been!  LOL

Where to begin?  Sadie has a rare syndrome called Cornelia de Lange Syndrome (don't google yet, I'll tell ya what it is a minute).  This was a complete shock.  At no moment in time has this syndrome ever been mentioned as a possibility.  If it was not for me pushing for this test (this was admitted by the Dr's) it would have never been discovered, and she would have been misdiagnosed for the rest of her life.  After I researched the syndrome and after talking to the geneticist, Sadie fits this syndrome to a tee.  HOWEVER, this syndrome does not cover brain abnormalities (at least not these specific abnormalities).  There is no genetic reason (at least not as of now) to explain her 3 brain abnormalities (4 if you count the cranial nerve issues).

I have spoken to a couple of her Dr's since we found out the results and they are all shocked.  No one saw it, but after I told them they all said they can't believe that they missed it, because it does fit her so well.  They all said that they were looking strictly at the brain and failed to look at all of her and they never thought to separate the issues.  I can't really blame them, it's hard to get passed the brain issues.  At the same time though, it really annoys me that no one looked at "all of her".  Hopefully, every single one of her Dr's have (or will) learned something from this.  Sadie is the classic case of "you can't judge a book by it's cover".

Sadie has a mutation of gene HDAC8 which causes Cornelia de Lange Syndrome (CdLS).  CdLS was discovered (if that's the word I'm looking for) back in the 1930's.  However, this specific gene mutation was just discovered in 2012.  If we would have done this test when she was born, she would still be undiagnosed (another way God works in mysterious ways and he made me wait 2 yrs to get her blood drawn).  With this gene being so newly discovered they are still doing more research and do not fully understand this gene, but they do know it causes CdLS.  In Sadie's specific case her gene mutation is a de novo.  "A what?"  De novo means a genetic mutation that neither parent possessed nor transmitted.

Also all the tests that they ran on mitochondrial disease came back negative.  Now, this is kind of a sticky area.  As I have explained in the past diagnosing mitochondrial disease is extremely difficult because it's just not black and white.  It is an extremely, large grey area.  The tests that are known to pick up mito, can come back negative and the Dr's will still think that a person has the disease because of the way that they clinically present.  In Sadie's case, the Dr's now believe that she does NOT have a mito disease because 1. the tests came back negative and 2. all of her symptoms have been accounted for under the dx of CdLS.  Yes, the brain is still up in the air, but they are still saying no to mito.   We are going to follow up with the new neurologist/mito Dr to discuss all the finding and get her final opinion on the whole mito situation.

What is CdLS?  Cornelia de Lange syndrome (CdLS) is a genetic condition present at birth and is characterized by numerous physical, intellectual and behavioral differences. Children with CdLS usually have low birth weight, are smaller in size and height and have a smaller head circumference (microcephaly). Most experience developmental delays that range from mild learning disabilities to profound mental retardation.

Common physical characteristics of CdLS include: similar facial features (which may include an upturned nose, eyebrows that meet in the middle, long eyelashes and low-set ears); gastroesophageal reflux disease (GERD), which can make eating painful and contribute to slow growth and other intestinal differences; and upper limb differences ranging from small hands to missing fingers or forearms.

Cleft palate, diaphragmatic hernias, vision and hearing problems, excessive body hair (hirsutism), heart defects, seizures and dental issues are also common. Behavioral issues, such as self-injury or attention deficit hyperactivity disorder, might also be present. The syndrome takes its name from the Dutch pediatrician who was one of the first to formally describe it, in 1933. It occurs in an estimated 1 in 10,000 live births.

I got all this information from the center of CdLS at CHOP (children's hospital)..  You can read more here if you want to.

There are many, many symptoms that go along with this syndrome.  With the fact that Sadie does not display all these symptoms AND the fact that she has the brain abnormalities, it is kind of easy to see how this syndrome was missed by all of her Dr's.  At the same time... the symptoms that she does display of this syndrome fit her to a tee, so how was it missed by so many Dr's?  It's rare, but it's not as rare as her PCH or the PTCD.  *sigh*  I don't know, but being undiagnosed is in the past and I'm just thankful that we have one more missing piece to Sadie's mysterious puzzle.  Now, if we can just figure out the brain piece, it will be complete (I think).  Don't worry, I have new plans to help figure out her brain piece.  You didn't think I would just leave that alone now did you?  Nope, detective mom is on the loose, again!  LOL

As always thank you everyone for all the support and prayers that you guys have given us the last couple of years.  You have no idea how much all of you mean to us.


  1. Oh sister, I know exactly how you feel! I was ecstatic when we finally got a confirmed diagnosis on Taylor right when she turned three. Not that I don't have lots of good things to say about many of the doctors around here, but after she got diagnosed, I was feeling the same way. How on earth was it missed by the multitude of pediatric specialists she had seen here?! Thank God for Cleveland Clinic!

  2. You are an amazing mom and Sadie is one lucky little girl. Now let's go to PA and get more answers! Road trip! I love you ALL!!!