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!!

School Has Begun

Where did the summer go??? It seems like only a few weeks ago and we were getting out for summer and now we are back at school. The summer was very busy with trips to the lake, the beach, the pool, and MANY doctor and therapy appointments for Alyssa. So, here is a brief recap of the summer and start of school...

In June, Connor went to Boy Scout Camp and had a blast!! He earned many awards, including his "Bull's Eye" Award in archery and his "Sharp Shooter" Award in BB Guns. We all went to the lake almost every weekend and Alyssa had weekly therapy visits. Alyssa learned to turn in a circle (only to the right) and began standing at a table for longer periods of time. Austin learned to tie his shoe and kept practicing his swimming.

In July, the kids went to Bible School. The theme was Crocodile Dock. They had lots of fun and sang wonderfully in the final program. We had a great cook-out at the lake for the 4th of July, followed by several fireworks displays. I took the kids to the beach for my aunt's wedding. We had a good time, although Walt was unable to go, due to his work schedule. Alyssa continued her therapy. She got her foot braces and special shoes, her wheelchair, and an adaptive chair. That was a crazy week. She also had her MRI which showed no abnormalities. It ruled out CP, seizures, strokes, and several other brain disorders and injuries. They did some blood tests, which we are still waiting for results.

In August, we went on a week-long trip to the beach with Walt's family. The kids had a ball with their cousin, Jordan. We got some great pictures and made MANY memories. While on the trip, Alyssa got pretty good in her wheelchair. She can move it around on hard surfaces and really enjoys the freedom. She is tolerating her foot braces well. I started school on the 10th and got my new room ready. It took many late evenings with Walt having to watch the kids, but it got done... just in time for the students to come. Austin started kindergarten and Connor started 2nd grade this year. They both have wonderful teachers and have had a good start. Alyssa starts at her new school on Monday. I have met with the therapists several times and the facility is wonderful. She will receive all of her therapy at school. I think the many activities will be excellent for her. She will receive PT, OT, and speech therapy at the school. Her class is made up of 14 kids. Only 3 of them have disabilities and Alyssa is the only one in a wheelchair. I think that will provide her with wonderful role models... I'll keep everyone updated.

For now, the year is looking good. I have a fairly light caseload and am enjoying my students. This weekend will consist of relaxing, a quick day at the lake, and a busy Sunday with my 3 and 4 year old Sunday School Class. Walt will take the boys bowling with the Cub Scouts on Sunday and we will be "back in the saddle" for school on Monday.

I hope this has gotten everyone caught up on our summer activities. I will try to do better about updating, especially with news about Alyssa...
Love to all,
Susan

Off to the Beach!!!

Well, the car is packed, the kids are ready, and they are all in bed. Tomorrow morning we will leave for the beach on our annual "Lee Family Beach Trip." We will be gone for a week and when we return it will be time for school to start back. I can't believe how fast the summer has flown by!! We met Alyssa's teachers today and she got to meet her PT, also. I am very pleased with everything at the new school. I am eager to see her progress once she begins attending 3 days/week. Well, I am off to bed!! Thanks to everyone who stops by to read my lowly blog...
Susan

WOW!!!

What an exhausting week I have had. We went to the beach for my aunt's wedding. I took the three kids by myself and stayed in a hotel. They loved the beach and were well-behaved for the most part. They really enjoyed riding the ferris wheel at the Wharf...this was a first for all of them. Alyssa had quite a bit of time to use her wheelchair and has gotten better pushing it.

Now that we are back, we only have a few days before we go to the beach with Walt's family. It has been non-stop!! I have been to the school twice...still a mess, but I won't be able to get back until school starts! Alyssa's MRI went well and nothing was found by that. She had more blood work done and it should be back in 2 weeks. Alyssa's foot braces have come in and they are really cute with pink all over! Tonight I have Alyssa's Parent Night at her new school and tomorrow she gets to go meet her teacher and see the classroom.

Somewhere in all this craziness I have to pack for the beach, shop for school supplies, return library books, and anything else that comes up!!!

Well, I will try to post again before the beach trip, but everyone enjoy the rest of their summer!
Susan

We Got It!!

We got the loaner wheelchair. It looks great and works well for Alyssa. She has already figured out how to make it move and she likes the independence it gives her. Walt and I had to figure out how to make some handle bars on it so we could help her steer and move. That was the only thing that the chair was missing. We went to Home Depot several times and met a man who has a son in a chair. He was an excellent help and after several hours there, we had everything we needed... WE THOUGHT!!! We got home and didn't have a metal filer. Walt went to Wal-Mart at 10:15 and got the file. Then we started filing the metal pipe. We filed, and filed, and filed, and filed... FINALLY we got the pipes filed down enough and got it painted. I put it together this morning and it looks very good and the handles work well. Mom made a cover for the back. It had the name "Annie" on it from it's previous owner, so I am taking it today to have her name monogrammed on it. I think this chair will work well until we get her custom chair when she turns 2. This chair will also allow us to see what things are working for her and what we might need to change. Thanks to everyone who helped out with this endeavor!!

Special Children- a poem

I was sitting in the waiting room of a therapy office, waiting for Alyssa and I to be called back for her appointment when I saw a new hanging on the wall. It had not been there before and as I read it, tears filled my eyes. It was so touching, I couldn't take my eyes off of it. It was as if God had put it there for me to see, just at that moment, just on that day. The day I was feeling so tired, so disappointed, so helpless, so hopeless. After reading it MANY times, I realized I wanted to share it with other moms who has special children. I frantically took out a pen and scrap paper from my purse (pen was hard to find, but there is ALWAYS scrap paper in my purse) :-). I started writing as quickly as possible, hoping they would not call me until I got it finished. I hope it touches you, inspires you, and brings hope as it did for me.
Special Children
God gave this special child to you,
To guide, to love, to walk through life beside.
A little child so full of charms, to fill a pair of loving arms.
God picked you out because He knew,
How safe HIS child would be with you!
Author Unknown