Path to Treatments

When a child is diagnosed with a chromosome change, families often go through many questions in a very short amount of time. “How did this happen?” “What does it mean?” “What is the treatment? What is the cure?”

Our goal at the Chromosome 18 Clinical Research Center is to answer these questions. We want to be able to tell families exactly what to expect and how to deal with complications if/when they happen. Eventually, we want to be able to prevent complications from ever happening in the first place!

However, research is a time-consuming process. If we want reliable data and solid, publishable conclusions, we have to go about it the right way. Since families are an integral part of this process, it is important that they understand how things progress. In a series of posts, we’re going to discuss the various steps on the path towards treatment.

Supporting Rick Guidotti

Many of us know Rick Guidotti, the man behind Positive Exposure. Rick takes photos of people with various genetic conditions. His photos capture the breathtaking beauty of his subjects. We have had the privilege of having him at our annual conference many times and many of our families have been photographed by him. In fact, the beautiful rotating images on the Registry's website are all Rick Guidotti's.

So, I am sure that many will be interested to know about the documentary about Rick, entitled "On Beauty"! Here is a trailer for the film, which features video footage taken from the 2009 conference in Las Vegas! (Rated PG13 for language!)



The producers of the documentary are looking for funding to finish up the film, so there is not a definite release date yet. But, you can follow the latest on their facebook page, visit their official page, or even make a donation to the film here.

Once again, thank you, Rick, for all you do!

New Year's Resolutions

Holy moly!! I did not realize that it had been so long since I have posted on this here blog! Goodness gracious! Apologies!

It is so hard to believe, but that time of year has come again. Time to make those New Year's resolutions. There are so many possible resolutions to choose from, and at some point in my life, I am pretty sure that I’ve made every resolution out there. I resolve to lost weight! I resolve to save money! I resolve to respond to emails in a timely fashion! I resolve to start a garden! I resolve to learn how to cook! I resolve to keep my resolutions!!

Well, most of the time, these resolutions are forgotten until, say, December, when I look back at the year and wonder what happened to all of my good intentions. Then the guilt sets in and I promise myself that, next year, I’ll do better.

This year, it finally dawned on me that, maybe my dedication is not the issue. Maybe I’m just setting the bar too high for myself! I spent the last week of 2010 wondering what kind of resolution I could make that would still be attainable. Then, this morning, I finally came up with my resolution!!

On the whole, I think I'm a fairly positive person. But I don’t always share my positive thoughts with people when I have them. So, here's my resolution: I am just going to be a more publicly positive person. That is to say, when I think something or someone is the bee’s knees, I’m going to be sure I tell them. Starting right here.

Today, I am grateful for the Chromosome 18 Clinical Research Center. I am thankful for the opportunity to work with a wonderful team of professionals. I am thankful for the recent developments in technology that are enabling us to move forward in the research. I love that so many families out there are willing to open up and share their lives and stories and information with us.

And while I’m on the topic, I am grateful for the Chromosome 18 Registry & Research Society. I think the administrative staff and coordinators do a great job of keeping the families up-to-speed and connected. I L-O-V-E when parents contact me with questions (even when I don’t have the answers!) I love seeing the conversations on the Facebook page. I particularly love seeing the photos there!!

As I re-read what I just wrote, it strikes me as kind of cheesy. But, I think I will post it anyway. Because, after all, who doesn’t love a little cheese now and then?!

Happy New Year, everyone! May you have a fantastic 2011!!!

How to Conquer a Chromosome Abnormality, Part 1

I'm thrilled that Dr. Cody has written another post! Today, she discusses how attitudes can make all the difference when it comes to conquering chromosome abnormalities.

When a family is diagnosed with a chromosome 18 change, the next question is, of course, “What do we do? How do we treat it?” All too often, families still hear “There is no treatment. There is nothing that can be done.” How frustrating!! It leads us to wonder if this will always be the case. Will we ever get to the point where a physician says, “Ah! Yes, I’m very familiar with this condition and the recommended treatments. Here is what we need to do,”?

This is already happening for some other chromosome conditions, namely, Down syndrome. What can we learn from the study of Down syndrome? How did the Down syndrome community get to where they are today? What has made a difference in the lives of people with Down syndrome and how was that achieved?

The average life expectancy of someone with Down syndrome has dramatically improved over the last 40 years. The graph below illustrates this point by comparing the average age at death of someone with Down syndrome from 1968 to 1997. During the period of time covered by these data, no specific treatment for Down syndrome was developed. The changes in life expectancy are merely due to a change in attitude within the medical community. Physicians used to withhold treatment for people with Down syndrome. However, as parents and families advocated for their children, the medical community started applying standard medical care as warranted for specific symptoms. Their congenital heart conditions were repaired. They were screened for thyroid problems. If they developed leukemia, they were treated.

**This graph is from the Centers for Disease Control, Mortality and Morbidity Report.

Another major shift has been the change in society’s view towards people with disabilities. Over the course of the past several decades, families with a child with Down syndrome started keeping them at home with the family instead of placing them in institutions. I don’t think anyone will disagree that a family environment is superior and provides a child with better attention their specific health needs, not to mention more varied social interactions and learning opportunities. However, the graph also unfortunately shows that not all families have the same access to healthcare or receive the same respect for their concerns. Clearly, we still have some work to do to make sure that all families have access to the resources to keep their children healthy.

The lessons for us in the chromosome 18 community are two-fold. (1) We can make great progress if we advocate that our special children be treated the same as a child with normal chromosomes who presented with the same health concerns. (2) We need to continue to change society’s views on disabilities. We have come a long way from routine institutionalization, but there is still a long way to go. We need to make sure that all our children have access to all opportunities to lead a fulfilling life. From the opportunity to develop strong relationships with friends and families to the chance to follow a dream career, we need to continue to advocate for them. We could develop the “cure” but it won’t make a difference if we do not work to correct the social and ethical issues that hold our children back from having a full life.

Tea Time!!!

Well, today's the day! Happy Phantom Tea Day!! I hope that you are enjoying a cuppa something or other, wherever you happen to be! Me, I'm sticking with the hot chocolate...


In the interest of full disclosure, this photo was taken last winter--this week-end I managed to spill an entire Diet Coke in my purse, which was holding my camera. Perhaps it is needless to say that I was unable to resuscitate the camera. But, rest assured that I drank a cup of hot chocolate today in honor of the Phantom Tea!

I hope that you all had a lovely day! And also, just because the actual day is almost over, it doesn't mean that we are no longer accepting Phantom Tea donations!! Keep sending your friends and families to the Registry website to make a donation!

The Dynamic Duo

Phantom Tea Practice continues!! Here's Dr. Jannine Cody, founder and director of the Registry and the Clinical Research Center, with her daughter, Liz, the inspiration for it all! If I'm not mistaken, they are sitting in their dining room, which is one floor above the Registry office!


Have you sent out your Phantom Tea invites? Or have you donated? Are you enjoying your cup of tea right now? Me, I'm sipping on some hot chocolate. A few more calories than tea, perhaps, but just as warm! And since it is all in the name of the Registry, those calories don't count anyway, right?!

Phantom Tea Practice...

Hard to believe, but the Phantom Tea is just around the corner!

Of course, the whole point of the Phantom Tea is that you don't really have to DO anything on a particular day...That's why it is the easiest fundraiser around! All you have to do to participate is donate to the Chromosome 18 Registry & Research Society. However, once the donation is made, you are invited to enjoy a cup of tea on December 5th in honor of all those families touched by a chromosome 18 change...

Some members of the Registry's Board of Directors have already started practicing for the big event. Here's a picture of Denise Parker, Treasurer of the Registry, and her daughter, Rebecca, enjoying a cup of hot chocolate in a tea house!


I'd love to get a collection of pictures of people enjoying tea (or other beverages!) in honor of the Phantom Tea...If you think of it, snap a picture of yourself and your tea and send it to me at seboldc@uthscsa.edu. I wonder how many pics I can collect!