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)

Growth Spurt

We had Haleigh at the Endocrinologist on Wednesday.  Her doctor has been regulating her growth hormone to see if it will help her out.  November will be one year of her being on it.  Since May, Haleigh has had the biggest growth spurt ever.  She gained just about 2 lbs.  She is now 18.2 lbs.  She also grew 2 inches.  She is just at 29 inches.  It is hard to tell at this point if this is the growth hormone, or if she had a typical 2 year old growth spurt.  She is still super lean and itty bitty.  She will be 3 on the 28th, and we are hoping to have her in size 3 diapers by then.  HA!

Being silly at her photo session.

Hard work pays off!!

Words can not describe how happy i am for this little girl.  She is such a fighter and she makes us proud every day!!

NIH Day 3 and 4

Yesterday was such a busy day, but for the most part went really well.  She saw a nutritionist in the morning.  She was very happy with her diet and impressed with her appetite.  Haleigh does have low bone density so she would like to see her take in more calcium and possible a vitamin D supplement.  No big deal.  
Neuropsych evaluated her to see where skills are based on milestones.  She did much better with this than she did with the infants and toddlers evaluation.  It was a much better environment so Haleigh was able to focus better.  She said she can tell that Haleigh knows how to perform tasks, but her motor control is keeping her from doing things.  She was given some exercises to help with this stuff and she will be starting occupational therapy soon.  
Audiology did a hearing test.  He said he feels like she has at least mild hearing loss which could be impacting her speech.  He said it is probably caused by all of her ear infections.  ENT just checked to see if her tubes were still in place.  He didn't have much to add to the cause.  
She saw Dr. Gropman from Neurology.  She saw her before at Children's.  She was very pleased with her progress and just wants to get her started with OT to get her fine motor skills refined.  
Physiatry checked her foot braces and her mobility in her joints.  He said she has really loose ligaments and a lot of movement in her knees and ankles.  Also in her elbows and hands.  He said she is strong and doing great with her movements.  
Today she had PT which was nothing new for her.  
She also had a photo session so that the genetics docs could get some shots of various body parts.  
Blood work didn't go so well.  She lost her entire breakfast because she got so upset.  They got what they needed and said if they decide they want more they will get it when she is sedated tomorrow.  
The eye doctor said her eyes look good.  She is using both of them together.  He did say her corneas look small so he did photos too.  He will also be doing an eye exam under sedation tomorrow.  
Considering how much she has been through, Haleigh is holding up really well.  Aside from throwing chow in the lab, she has been very cooperative.  
Her MRI got moved to 0800 so that will make not eating much easier.