Wednesday, March 25, 2009

I dry!

Ah, the sweet sound of those two words. Those who have been with me in potty training he** know exactly what I mean. It has been 3 days and Nicolas has not had one accident. I must tell you this is one MAJOR accomplishment for my little dude. The last few days he has greated me at the door when I come home with the following. . .

hi mom
come on, come in
mom, I dry!

His sweet little way of letting me know that he went all day without an accident. We then spend a few minutes doing the happy dance. Nicolas jumps up and down; I clap and then we have a big hug. Now, maybe I am counting my chickens before they hatch but 3, count them 1-2-3 days -- I must be in heaven!

Saturday, March 14, 2009

Meeting with Dr. Kauffman @ the Fragile X Clinic

This week we had an appointment with Dr. Kauffman at the Fragile X clinic at Kennedy Krieger. First, it is pretty amazing that we were able to schedule this appointment. When we received Nicolas' diagnosis last summer, I called the clinic, and they put us on the waiting list. The first available appointment was for the winter of 2010. That was 1 1/2 - 2 years from the time that I made the first contact to them. However, Dr. Davoli in the International Adoption Clinic was able to make a referral to the Fragile X clinic for a record review. I was a little neutral about the meeting at first because I felt like -- "what are we going to learn that we do not already know?". Well, I am very glad that we scheduled this appointment.

We met with Dr. Kauffman for about 2 hours to discuss the genetics of Fragile X, learning and behavior. He was very impressed with all the documentation that we already had for Nicolas. He started by asking us the reason the genetic testing was done. (The only way to receive a Fragile X diagnosis is through the genetic test). Our pediatrician had ordered the genetic test within a month of our arrival home from Russia. The main reason he ordered the test was because of the lack of medical background that we had received for Nicolas and his developmental delays. Our doctor had order the test to rule out anything else that might be happening when the Fragile X was discovered. What we learned from Dr. Kauffman was that as recently as last week, he and others with the national organization were meeting with Congress to try to impress the need for testing. Many more children may actually have Fragile X than those who have a diagnosis. I get a little chill just thinking about it -- we received our diagnosis within 60 days of having Nicolas home while many go untested, and our doctor had the wisdom to order the genetic test. If ever there was an example of God's hand working in my life it is this.

Dr. Kauffman was also very impressed by the Towson language study. It really helps to differentiate between the language deficiency of internationally adopted children and the deficiency that he is experiencing due to the Fragile X. If it were not for this blog and Eileen (thank you!), who let me know about the study at Towson University, we may not have such good diagnostic information. Dr. Glennen was able to work us into the study last year. They had already completed their spring intakes, but she was able to work us in before the summer break. This is another one of those instances when I know that God was in control.

The other great news is that Dr. Kauffman is going to begin the assessments to get Nicolas into the clinic. Normally, a two day assessment is conducted by a team of doctors. Scheduling is very difficult so they only schedule an assessment once a month. Since we are already patients at Kennedy Krieger, we will continue to work with them and begin to have individual assessments. So, instead of waiting until next winter, we will begin as early as late spring this year. Our first assessment will be with a behavioral psychologist. I am looking forward to this any suggestions that the doctor can provide us to help with Nicolas' tantrums.

He told us that Nicolas was a high functioning Fragile X. As testament to this we often have friends and even family who wonder if the test could have been wrong. Dr. Kauffman indicated that the test is certain but the fact that people think he is "normal" indicates that he is coping well. The further testing will give us information about anxiety and attention deficit which is common for those with Fragile X.

Finally, he gave us some very promising news. I am even a bit afraid to write it here because I am too scared to be optimistic. A drug used to treat Fragile X was approved for clinic trials which are underway (we knew about this). We were not sure what this meant but we thought that maybe by the time Nicolas was a pre-teen it might be available to us. What we learned from Dr. Kauffman was that the drug trials have been going very well. If they continue to progress, the drug might be available to Nicolas as early as 2 years from now! This drug will treat the disorder not just the symptoms. Very, very promising news for a child who is only 4!

If you pray for our family, thank God for these blessings. I know that he is alive and working in my life! And, continue to pray that we will have stamina for all the doctor's appointments we will experience this year. It does take its toll on me. And, pray that these drug trials continue to go well and the drug would become available to Nicolas.

Tuesday, March 10, 2009

New Do's

Tori and I sprung forward with a new look!

Tuesday, March 3, 2009

Snow Day!

The winter storm blew through our area yesterday. We got some nice powdery snow -- about 6". This is the type of winter weather that I can handle (forget the ice, yuck). Although I must admit that I am dreaming of green grass and 70 degree weather for March, our snow day was nonetheless fun. I slept in as long as the kids would allow which wasn't much later than normal, but we all ended up piled up in the bed for a bit. We all stayed in our jammies for quite a while after we decided to leave the bed. Then about mid-afternoon, me and the kids bundled up and headed for a nice incline at the neighbors house. I wonder what Nicolas thinks when he sees the snow. The first thing he said was "mess". The kids had a great time in the snow -- sledding down the hill and having snowball fights. Then another neighbor brought a snow tube out -- that was a blast. For next year, I really need to invest in snow suits, boots and waterproof gloves for the kids. We made due, but it was sure cold! I had to end the fun because my shoes were not built for the snow and not being a kid, I had all the cold and wet I could take for one day. When we came in for lunch, we warmed up with campbell's soup. It reminded me of the snowman commercial. I think we all felt like that snowman melting off the cold.

Sunday, March 1, 2009

All Dressed Up

This one is for GranMolly -- I know you've been waiting on this pic!