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.

32 comments:

Anonymous said...

YEA! That's great news; God is good! Trust me, as someone with a disabled 'high functioning' child, I know how tuff it is. It seems like everyone see the good and you get the little terror behind closed doors :) Hang in there, there's a miracle on the way ;o)

Troy and Rachel said...

This post is truly a testimony to how hard God is working in your life. Reading adoption blogs has really solidied my belief that God is doing so much. I'm glad Nicolas is coping so well and I hope everything turns out the way it souds like it might.

Eileen said...

Wow- Kennedy Krieger is hard to break into, and you have found your way in- good for you!

I am glad that the information in the appointment was helpful, and hopeful too. You guys are being great parents in seeking out all resources that will help your little guy navigate through this big world.

It takes a lot of physical and emotional energy to go to all those doctor's appontments, but is worth it! Don't forget to take care of yourself once in a while...

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