More test results!

Thanks to everyone who has been praying for our family! I received a call from Alyssa's new neuro-muscular specialist today with results from her blood work from last week. He said it showed a co-enzyme Q10 deficiency. He explained that this deficiency points to a mitochondrial disorder of some type. These disorders mean the mitochondria are unable to completely burn/absorb food and oxygen in order to generate energy. There are more than 40 different diseases in this large "classification." He has suggested going through with the muscle biopsy to try to figure out which it might be. After we have the biopsy we will begin her on coQ10 supplements. He stated the effectiveness of this supplement varies- some have no response and others have "a little" improvement. This category of disorders does include the "myopathies" that we have been suspecting. Mitochondrial diseases can vary in severity and outcome based on the organs affected. At this time is seems Alyssa is only affected in her muscles. So, although we still have a ways to go in figuring this out, at least we know we are on the right track! Thanks again for your prayers!! We have her seating clinic next Monday to order her own wheelchair. I'll keep everyone posted when we have the date for her biopsy scheduled.

Alyssa Update

I have had SO MANY people ask about Alyssa. I am sorry I have not updated everyone sooner, but we had another appt. today and I wanted to wait so I could send as much info as possible. So, here is the latest:

We went to see Dr. Mathisen (pediatric neurologist) 3 weeks ago. He went over the latest blood work and MRI information and everything came back normal. We discussed doing a muscle biopsy, but at the time, he did not have strong feelings either way as to whether we should or should not go through with it. He felt comfortable giving Alyssa a "tentative" diagnosis of congenital muscular myopathy. He felt he had done all the tests he knew of and was comfortable with the myopathy diagnosis. He then referred us to a new Pediatric Neuro-muscular Specialist (Dr. Fequiere) at Children's hospital.

We went to see Dr. Fequiere today and he did a VERY thorough work-up on her (over an hour long!). He agreed that it presents as a myopathy, but he had some other tests he wanted to run and he had a stronger case for doing the biopsy, if needed. So, we took Alyssa for more bloodwork (7 vials!!!). She didn't cry at all… we just sang songs…she is such a trooper!! Dr. Fequiere ordered a repeat of the muscular dystrophy test, as well as a wide-range of metabolic testing to look for many other conditions. These will take approximately 6-8 weeks to get back. We are scheduled to see him again in 6 months.

In the meantime, Alyssa LOVES going to school at Hand-in-Hand and enjoys her teachers. We are seeing some progress, although it is very slow. Her teachers and therapists are all enjoying working with her and I feel like she has a great team on her side. She continues to improve using her loaner wheelchair. Her doctors and therapists are all very pleased at how well she can get around. She is continuing to use her gait trainer daily and loves it, as well.

Upcoming Appts.- Alyssa's 6 month review of her IFSP (Therapy plan) is coming up and her new therapists are going to make the plan a little more detailed. We are also meeting at the end of the month for her "Seating Clinic" to order her new wheelchair. It will hopefully be delivered right around her 2nd birthday in January.

Thanks again for everyone's prayers, support, and kind words. Many of you know (especially those that know my older two boys) that Alyssa was an "accident", but she has truly been a gift from God! She continues to touch the lives and hearts of everyone she meets with her fun personality and CONSTANT smile! Thanks for your continued prayers for Alyssa and our entire family!!