Philadelphia Recap

We went to Philadelphia not to see doctors, but to meet with other families just like ours who have the same rare genetic disorder Henley has. Some of you are thinking "Wait, what? I thought she had Chiari". The answer is that she has BOTH Chiari AND a rare genetic disorder. The genetic disorder is basically that she is missing a chunk of her 16th Chromosome and this "deletion" of information is quite rare. When we found out about Henley in December of 2011 she was one of only a couple hundred people in the world to have this same thing. Now she is one of about 500. Every year there is a family meeting in which the organization that puts together a giant amount of research for these kiddos puts on. The organization is called SimonsVIP and its a fabulous group of 34 researchers in different fields compiling their different expertise to try to figure out what we are dealing with when you have this specific genetic deletion. The group has only met for 4 years and this was our first time to go. We will do our best to never miss another meeting because we found this time to be invaluable! 

When we were in Philadelphia with Henley I had a few "ah-ha" moments. One of which was when I saw the list of common complications that the kids with her same genetic deletion have. "Seizures" Come to find out there are several of these kids who all have unexplained seizure activity that are also not able to be caught on an EEG....just like Henley. I instantly felt like we were not alone. When we looked at the list we felt like we were reading Henley's personal medical records. These are all of the ones that applied to Henley: 

Hypotonia (Low Muscle tone) 
Constipation
Frequent Ear/ Upper Respiratory Infections
Clumsy (Henley trips and falls almost daily) 
Head Size larger than normal (Check) 
Reflux (As a baby it was awful, we have it under control now) 
Diarrhea  
Seizures
Immunodeficiency/Recurrent Infections
Failure to Thrive
Vertebrae Anomalies (She has an extra vertebrae in her lumbar spine) 
Congenital Heart Disease (I'll come back to this) 
Chiari/Syringomyelia (DING DING DING) 
Abnormal Speech Articulation
Abnormal Agility (EDS. Ehlers Danlos Syndrome...which Henley & I both have) 
Sacral Dimple (Noticed this at 3 days old by pediatrician...sign of a birth defect) 

If you know Henley like we do then there is a check mark by each one of these items. There are about 3-4 other things that Henley does not have, one of which is ASD (Autism Spectrum Disorder) One of the things I listed was "Congenital Heart Disease". This one kind of stopped me in my tracks when I read it. As a lot of you know Adam has some heart issues and so does a few limbs of his family tree.  
A woman at the family meeting was talking about her daughter and it sounded vaguely similar to Henley. All of a sudden something sparked in my brain and I remembered that when Henley was a baby that at one of her well check appointments our Pediatrician thought she might have heard a heart murmur (which Adam had as a child too). We didn't think much of it at the time because (at the time) Adam was also fine and had never had any heart issues. We were told at that meeting that we should take this list we were given and check everything off so that we knew what we were dealing with with each of our children.  

We came home on Sunday and on Monday morning I called our Pediatrician. We got an immediate referral to a pediatric cardiologist and scheduled an appointment. We then were told to call our neurologist and have them call in the orders for an Echo-cardiogram and an EKG. We will be doing both of these test on September 10th. We are not "scheduled" to meet with a cardiologist to go over the results until October 20th, but we are pushing to get the testing done early so that if there is something serious that we will know about 5 weeks beforehand.  

In addition to this testing on Henley's heart (Which I am SURE they will find that its made of solid gold) we will also be doing Henley's yearly MRI for brain and complete spine on September 3rd. There are a few things that I am doing to be looking for specific answers to. One of which will be looking for Tethered Cord Syndrome, which COULD be causing her back and leg pain. We will meet with the Neurosurgeon after the MRI to go over the results.  

As always we would so greatly appreciate your prayers. We pray that in Jesus Name that she has NO heart defects and that her heart is perfectly normal. We also pray for clear cut answers regarding her back and chiari. We are so thankful for each and every person that walks with us on this journey. We are so grateful for the support and encouragement we receive from each of you.