A letter from Dr. Calhoun – 4P Support Group

*This article appeared in our August 2011 newsletter.

I first became involved with the 4p- support group right at the end of my first year of fellowship in Medical Genetics at the advice of my mentor, Dr. John Carey. It has been an absolutely delightful experience and I thought I would take a few minutes to reflect on this last year. I‘m now in my third year of fellowship and have accepted a faculty position at the University of Minnesota, which will begin in July of 2012. Once I get there, I would be delighted to see any of you who are in that neck of the woods. I am planning to continue my close involvement with the 4p- support group, hopefully for the rest of my career, as long as you are all amenable.

Dr. Carey invited me to the national meeting last year, which was an amazing experience. The kids and adults I met with Wolf-Hirschhorn and related disorders were universally engaging, vital, fun individuals. I got to see the diversity of the disorder and the truth of how well our patients do in real life. You all invited me and my family to the dinner and family party at the meeting. My husband and daughter (who are non-medical) had an incredible time. My family still talks about how much fun they had meeting your families.

Since my experience at the meeting, I have enjoyed being a resource for families and also for clinicians around the country, emphasizing that this is NOT a terminal disease and that our patients do well with good medical management. I truly appreciate the willingness of our families to share their experiences with me so that I can relay these experiences to other families and clinicians.

The support group continues to move forward in raising awareness and accurate understanding of 4p deletion disorders in the medical community. Our president, Amanda Lortz, is going to a major scientific meeting this year, and we are working on applying to the National Institutes of Health for a grant for our national meeting, which would hopefully allow us to bring in more scientists and clinicians and raise the national profile of our meeting, bringing additional attention to this important disorder.

Dr. Carey and I are continuing our work on establishing standard growth charts for individuals with 4p-/Wolf-Hirschhorn. Our research plan is currently being evaluated by the ethics board. Once this is done, we will be formally requesting more growth points. We would love whatever data you have and are willing to send to us. Future projects will hopefully include a formal Wolf-Hirschhorn/4p- registry. We will also be looking into some recent reports of cancer in some of our members.

Again, thank you for the chance to be part of this amazing organization. I am continually impressed by your effectiveness as advocates for your family members and others with 4p-.

Amy R.U.L. Calhoun, MD

Fellow Physician in Medical Genetics

University of Utah School of Medicine