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Sunday, June 24, 2012

Update & Diagnosis

I've been uncharacteristically quiet on here lately.  I've had so much to say, but didn't know where to start.  This isn't going to be nice & neat.  I may even ramble a lot.   We have been noticing small delays with Connor's development all along, but it was confirmed at his 15 month visit(16.5 months). At that time, Connor was not taking any unsupported steps or using any words. He also has significant weakness in his left hand.  We started the process of having him evaluated with Early Steps to receive services. In the meantime, we started back to Kindermusik with Mrs. Julianne. Connor has shown so much improvement just attending once a week classes. Thankfully, he qualified for services and has been working with Raegan for the last month.

On Mother's Day, Connor had a seizure at YaYa's house and took his first ambulance ride to the Emergency Room. It was determined that he had a febrile(due to rapidly rising fever) seizure and we were sent home with antibiotics. We went to visit Dr. B.(since Dr. J. was unavailable) the next day for a check-up just to make sure all was well and just spent the rest of the day relaxing. That is until he had another seizure. This one was more of a focal type instead of the shaking/jerking. Off to the ER we went again where he received more antibiotics and an anti-seizure medication(diazepam) to take as long as he had fever. We had already made an appointment to see Dr. W., the neurologist in two weeks. We went to see Dr. J. on that Friday and all was well with our big boy. She didn't seem to think it was pneumonia since he was feeling so much better and he never had any congestion, cough, etc. That was confirmed when he broke out in a rash the next week. Roseola?




Fast forward two weeks to our visit with Dr. W. It went pretty much as expected. Connor had an EEG in the office that came back normal and was scheduled for an MRI on June 14th.  I was a bit nervous about this since he would have to undergo anesthesia, but he was great.  We met with Dr. W. again on the 15th to discuss the findings.  Connor was diagnosed with a mild form of Pachygyria.

 
"Pachygyria is a rare developmental disorder which results from abnormal migration of neurons in the developing brain and nervous system.  In pachygyria, the gyri are relatively few and are unusually broad and flat. The condition does not affect the entire brain, and is also known as ‘incomplete lissencephaly.’ Symptoms are variable, but may include seizures, developmental delay, growth failure, small head size, feeding issues and poor muscle control.  Most cases are isolated, although autosomal dominant and recessive forms have been described. Treatment is symptomatic and supportive."

It appears that Connor's case is very mild so more than likely we are looking at needing Physical Therapy, Speech Therapy, and Occupational Therapy.  He may have some learning difficulties later on and may also develop Epilepsy.  I thank God all of these things are treatable and that my sweet boy is still here with me.  If you research this diagnosis at all, you will see that cases can be extremely severe and even shorten life expectancy to as little as 2 years.  We are so happy this is not the case  in our situation.  We are now in the process of getting another evaluation to justify adding Physical & Speech Therapy to Connor's IFSP(Individual Family Service Plan).  I am also looking into sending his medical information to a specialist in Seattle for review.

SOME GREAT NEWS:  Connor has since started taking unsupported steps.  The first time was probably around June 1st.  He took 8-10 steps in the media room & I got it on video!!!


 

 

10 comments:

mab said...

I am so glad they were able to find a diagnosis & that it is on the less-severe end of the scale! I know this has been such a roller coaster ride for your whole family. I'll be praying for Connor to continue to thrive with all of the therapy. He's incredibly blessed to have parents like y'all who are involved & willing to get him whatever help he needs to succeed!

Mommato3miracles said...

Wow I am over from Jenna's journey. I have a kiddo with some medical issues as well. I always like reading about christian mom's who focus on the blessings of their kiddos instead of the medical problems. I will certainly be rooting for your little guy

Tesha said...

O my goodness I am so sorry for all you have gone through. I know it was stressful. I am rejoicing with you that it is mild. Love the sweet video! Saying a prayer for Connor now!

Brittany said...

Stopping by from Jenna's. So glad you were able to get a diagnosis! And glad that he qualified for services! We just started with Early Intervention last week. my daughter is 6 weeks. She will also need physical, occupational, and speech therapy. Talk about staying busy! :)

Kim H. said...

I'm so glad you've got answers and know a bit of what to expect now. My older son James has a genetic condition as well - sounds a bit similar in some ways to what your son has, but opposite in others. His will only be a problem for him during the years he is growing... but we've been through the MRI and all of that too - not easy, but it went better than I expected. I'll be praying that you guys don't have any more scares, and can just get him the therapy he needs to thrive. :-)

Jaibee said...

Oh wow, what a journey! Glad they were able to diagnose your little boy and that it looks like things will work out well! Prayers for him, you and your family!

I'm popping over from Jenna's challenge, BTW. Nice to meet you!

Christi said...

Visiting from Jenna's Journey. I will be praying for your little boy, as well as, your family. It's so nice to meet you!

Brittany said...

I will be praying for you and glad you got help. I would sign your petition, but I think you have to be a LA resident. Correct?

Stoppin by from Jenna's
brittanyanddenver.blogspot.com

Brandy said...

Poor little guy. All of that must have been really scary. I'm so glad it's treatable. You have a beautiful family.

The Fabulous Foster Family said...

Life's journey is not always what we planned or expected but God is always there to carry us through the difficult times. Connor is such a cutie! I'm here for you :)