Long Time No Post

It has certainly been a while since we have posted.  The summer came and went in the blink of an eye.  It was pretty uneventful.
Haleigh followed up with most of her specialists with little to report.  The cardiologist is ok with the hole in her heart because she still has no symptoms.  Even though he is still wanting to fix it, he will continue to wait until she is bigger.
Our most recent issue has been with Ortho.  She had a hip x ray done to see if her left hip was subluxating.  The x ray came back saying her right hip has a subluxation (weird i know since her left foot is the issue).  We see ortho on Monday to follow up and see what we do next.  I did a little reading on the internet and we all know that gets us nowhere.  I will update as soon as we know something.

Haleigh also had her 4th birthday in September.  It is hard to believe that 4 years has gone by.  She is still not talking or walking but she is making great progress.  Some progress is better than no progress.  She is starting to make sounds now.  She says half words but she is realizing that she can make the words herself.  Sign language is still a big part of our communications.

Hopefully things will begin to progress a little more.  I promise to update more.

Round 2 results

Round 2 was bitter sweet.  The eye exam shows signs of  disease in the retina.  We will follow up with the eye doctor every year and repeat the eye exam in 3-5 years to see if she has changes.  This disease could cause degeneration of her retina which could eventually cause her vision to go.  He is mostly concerned with her night vision because most of the changes were caused in the dark room.  
The EMG and Nerve conduction test came back normal which is great.  All 3 of us were tested and we are all "normal".  
Now unfortunately we have to wait.  They can't do much more with the testing because we have gone as far as science will allow for the time being.  When new testing procedures are developed they will re examine what they can.  Until they we still sit with no diagnosis and no answers as to why she is developing the way she is.  
We will continue to move forward and be grateful she is making progress and be grateful she is a super happy person.  Thank you to all of our friends for your continued support.  We really couldn't do this without you all!  

NIH round 2

This Thursday and Friday Haleigh will be returning to the NIH for more testing.  She will be sedated on Friday as they perform an Electroretinography test. 
We were also informed that the first round of chromosome sequencing came back and she has a marker on a chromosome related to Peripheral Neuropathy. (Peripheral nerves carry information to and from the brain. They also carry signals to and from the spinal cord to the rest of the body.  Peripheral neuropathy means these nerves don't work properly). To test for this they will do an EMG and Nerve Conduction test.  (An electromyogram (EMG) measures the electrical activity of muscles at rest and during contraction. Nerve conduction studies measure how well and how fast the nerves can send electrical signals).  Josh and I will also get this test done since it is a Dominant gene.
No diagnosis yet but things are starting to come back so its a start.  The nurse said the lab will now start the next level of breakdown with the DNA.  Fingers crossed. 

New News!

A lot has been going on in the last few months.  Haleigh is doing wonderful.  So far (knock on wood) she has made it without getting sick.  Not even a cold!!! 
On the 28th of December she had her ear tubes replaced and her adenoids removed.  This should also help her stay infection free.  I think last year she picked up most of the childhood viruses so she should be good this year. 
She saw the endocrinologist yesterday.  She is 19.1lbs and 32 inches.  Still growing on her curve but she is making great progress. 
We still have not heard anything from the testing at NIH.  We go back at the end of this month to stay for a few more days.  She will be getting an eye test done.  They had some concerns with the color of her retina when she was there in June and the test requires her to be sedated. (again)

Not many new developments in PT.  She is still taking a lot of independant steps but she is not steady enough to walk full time.  We really are hoping it will happen so that she can run around this summer.  We have noticed she has developed "clonus" (Clonus (from the Greek for "violent, confused motion") is a series of involuntary, rhythmic, muscular contractions and relaxations. Clonus is a sign of certain neurological conditions, particularly associated with upper motor neuron lesions involving descending motor pathways, and in many cases is, accompanied by spasticity (another form of hyperexcitability).^[1] Unlike small, spontaneous twitches known as fasciculations (usually caused by lower motor neuron pathology), clonus causes large motions that are usually initiated by a reflex. ) in both of her ankles.  The doctor is going to monitor it.  Right now they are not concerned with it being brain related.  I think they are unsure if it is developing or if she always had it and they just didn't notice. 

My computer will not let me upload a picture today but most of you are on my facebook so i am sure you see alot!  =o)