ICAN Conference 2013

View driving into Chicago

View driving into downtown Chicago

We are back from Chicago! I wanted to write a post ASAP so things would be fresh on my mind. Also, I have had so many people ask me already how the conference and trip overall went that I wanted to follow-up with everyone. The short answer is: GREAT!!!

First off, Faith had an incredible four days! She was so happy and content the entire trip! She did great in the car to and from Chicago and she had some good stretches of sleep at night at the hotel. Faith doing so well helped us to be more rested and less stressed which I believe helped us get so much more out of the conference. We are in the middle of a medication change right now and started an increase of diazepam (valium) the morning we left so that could be a big part of Faith doing so well. We are trying diazepam to see if it will help get the chorea under control. Faith is still moving a lot but we still have a minimum of one more increase if not more to see if the diazepam is going to work. So far, Faith just seems less agitated. It is definitely much better though to see her happy and moving then agitated and moving!

We arrived in Chicago Thursday afternoon. After reorganizing and getting settled into the hotel, we ventured out for a walk. We ended up walking lakeside and spent a little time at the Ohio Street Beach. Faith enjoyed putting her feet in the sand! Then, we walked down to the Navy Pier area. It was a beautiful day to be outside!

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Saw this along the walkway to the Navy Pier. Great thought to start our trip!

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On Friday, we headed to the University of Illinois-Chicago(UIC) campus for the medical clinic which was held at the Illinois Eye and Ear Infirmary. We met with teams from genetics and oculoplastics. The genetics team from Einstein in Philadelphia (Tanya-certified genetic counselor & Dr. Schneider) direct and coordinate the Anophthalmia/Microphthalmia Research Program and have created a registry for cases and help with genetic testing. They are doing as much research as they can to help families! I’m not sure where we would be without their help and support and I’m sure I speak for many families! Tanya has guided many families in their early grieving days and helped so many of us get a diagnosis as well. ICAN families have been helped tremendously by the Einstein genetics team!

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At the clinic we met with genetics first and discussed what has been going on with Faith. We have known for awhile that Faith has the majority of the manifestations associated with SOX2, i.e.-bilateral anophthalmia, swallowing issues, sensorineural hearing loss, brain abnormalities, growth issues, developmental delays, etc. Faith’s excessive movement(chorea) has not been seen before in any other cases of SOX2 in the A/M registry. It is possible that some of these other issues are due to something else besides SOX2. We have wondered this for awhile-is something else going on? Are we missing something? So, we have some next steps. First, we are sending Faith’s most recent brain MRI to a neuroradiologist. If there is anything that can picked up from looking at her brain images it could give us some helpful info and direction. The second thing we are going to do is to request a whole genome sequence. This is very new and actually just recently came available from what we just heard at the conference. So, how does it work and what will it tell us? I will do my best to explain! 🙂 When Faith was born we took her cord blood and sent it to a lab to start genetic testing. SOX2 was the first gene tested since it is the most common in bilateral anophthalmia cases. Since Faith tested positive there was no need to continue testing for any other anophthalmia related genes. Faith’s DNA is still available as it is part of the research project so that is what will be used to conduct further testing. If there is any other gene mutation, addition, or deletion in Faith’s DNA that has been described and published then it should be able to be detected. We are curious if Faith could have another gene mutation that is causing the chorea and other issues. The genetics team agrees that it is worthwhile to pursue. If we do get new information, it could be very beneficial in helping manage and treat Faith. It is possible that nothing will come out of the testing in the short-term and it could take a very long time even if she has something that has been described and published. However, there is also the chance that we could find out something relatively quick. If finding out wouldn’t change things then I  don’t think we would be as eager to pursue this but if there is effective treatment out there that could help Faith then we have to do everything we can to try to get answers and pinpoint what is really going on and what things we can do to manage and treat it. So, the waiting begins…

Next, we met with the oculoplastics team for a second opinion. We discussed the current situation with Faith’s conformers and the idea of surgery. They also felt that extensive surgeries would be needed and there are no guarantees for success. We also discussed Faith’s other medical issues increasing the risk for multiple surgeries over a short period of time. There are options and ideas but the overall theme from everyone we have talked to in oculoplastics is that it would be a very long process. At this time, we are not planning on doing any surgeries. We have no evidence or expert opinion to believe that Faith would have additional ear, nose, or throat problems if we don’t do surgery. Our thoughts are the same as before about doing surgery just for cosmetic purposes considering everything else that is going on with Faith right now.  We are putting our focus on keeping Faith healthy and happy and our energy into helping her make as much developmental progress as possible. Besides, she is just so incredibly beautiful already! What an incredible smile!

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On Saturday morning, we got on the bus and headed back to the UIC campus for the 8th Annual International Children’s Anophthalmia(ICAN) Conference. Conference topics included:

  • Ophthalmology Issues in Anophthalmia/Microphthalmia
  • The Genetics Revolution
  • Helping Your Child Succeed: Tips from a blind adult
  • Low Vision Technology
  • Emotional and Psychological Impact of Parenting a Child with A/M

There was a banquet Saturday evening which gave us the opportunity to connect and reconnect with other families who have children with A/M. There was a DJ and karaoke for the kids. Faith enjoyed listening to the music!

Faith listening to the music at the banquet.

Faith listening to the music at the banquet.

The conference wrapped up with a breakfast Sunday morning. We said our good-byes to other ICAN families and headed back home to St. Louis. We truly had a great trip!  It was inspiring and therapeutic to spend time with families who understand some of our daily challenges and struggles. We learned a little, got some new ideas, have some next steps in place, and even feel a bit rejuvenated! Hoping we will be at the next ICAN conference in 2015!!

Keeping the faith,

Bridget