Guest posting by Teresa (Tesi) Kohlenberg, MD
After struggling to learn to read genetic reports with help from generous people like Andrew Mitz, I thought it would be good if other PMS parents could get a little help reading them, too. So I got together with Andy who helped me write this beginner’s guide to reading genetic reports. Click here to see it. Thanks to Katy Phelan for casting her eyes over an earlier draft of the guide, and improving it. Any mistakes are my own. I will be updating it over time, adding, correcting and responding to suggestions.
Here is a little more of my story.
Our dancing girl didn’t get her PMS diagnosis until she was 16 years old, by which time life had gotten pretty complicated. Even though I’m a pediatrician and child psychiatrist, I didn’t understand the technical language or the real-world meaning of her genetic report, and our meeting with the geneticist wasn’t all that much help.
PMS Foundation staff helped, and so did Alex Kolevzon, Andrew Mitz, and Catalina Betancur, each of whom reviewed our girl’s testing with me at different points in the following two years. I went on to talk with many parents, and to do research on psychiatric illness in PMS, which required learning more about variants, small deletions and big deletions.
Four years later I am still learning, and the field continues to grow. Families now turn to me for help understanding the meaning of their child’s report. And when I am not sure, I still turn to Andy, who’s been at this a lot longer than I. Andy and I know how overwhelming it can be to look at these reports that frame our children’s lives. I hope this will give parents a head start for their conversations with genetic counselors and geneticists.
How to read a genetic report: examples from Phelan-McDermid syndrome (PMS)
arm22q13 
Hey, how’s it going? my niece Sophia has Phelan McDermid syndrome. today i met your blog that helped me clarify many doubts that Sophia’s mother had! Thank you so much! Sophia’s Intagram is @milagresophia
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