The Neverending Wait

Within the Research Center, we’ve been working on the 2010 newsletter. We expect it to go out in a few weeks! Hoorah!

We feature an interview with one of our laboratory technicians, who answered the question, “What is the hardest part of your job?” I’m not going to steal her thunder by telling you her response. However, it did get me to thinking about this question, and how I would answer it.

I love my job. I work with fantastic families. The team at the Research Center as well as at the Registry is great. I am able to work on several different types of projects, which always keeps things interesting. I find my job to be very rewarding, intellectually and emotionally. I consider myself very lucky to be working here!

I think that possibly the most challenging part of the position, though, is the waiting. Research is such a long process. You start with a research question. Then, it is a matter of finding the funding to answer the question. Once we get the funding, then it is time to collect the data. Sometimes, this means bringing families to San Antonio. For other studies, we send out surveys to the membership and wait for the surveys to be completed and returned. We may need to interview many families, which can be difficult if they are hard to reach via telephone or email. If labwork is involved, we must order the supplies, run the experiments, and sometimes re-run the experiments if they didn’t work the first time around. Then, it is time to analyze the data. No small step!!

Once the data is analyzed, and we understand what the data is telling us, we can finally write up a scientific paper. This can also be a lengthy process, as it is sent around to authors for multiple rounds of editing and approval. Then, at long last, we are able to submit the paper to a scientific journal! At that point, the process is out of our hands for several weeks or months while the journal’s editors review the paper and decide whether it would be appropriate to publish. Typically, the editors will send the paper back to us with some suggested revisions, which may include more data collection or analysis. We revise the paper,run some more experiments, then re-send it to the editors. Again, we wait until we hear whether it was accepted for publication. If it is accepted, there are another few rounds of edits as we look for typos, misprints, and so forth. Once we have gotten the paper to its final form, it is frequently several months until the paper comes out in the journal.

Of course, sometimes the paper is not accepted for publication. Sometimes this is because the editors don’t feel the paper is a good fit for the journal. Sometimes, it is because they feel we need more data. Sometimes, we’re not completely sure why it wasn’t accepted. At this point, though, we return to an earlier stage in the research process.

So, while I love the work that we do, and I think it is very important, it can be very hard to have to wait for the scientific process. I know that families have expressed feeling the same way about research!! It would be so fantastic if we could just ask the question and have it answered within a few weeks! Unfortunately, that’s not how good, reliable, useful data is collected. It is a slow and often frustrating process. But, rest assured that we’re working, even if it does sometimes seem like things are taking forever!

On a completely unrelated note, I am, again, unable to post a photo of a Registry mug in Warsaw Poland. I’m afraid that I am not sure where, exactly, the photo went, as it was not on the camera card after all! When I AM able to find it, though, I will certainly post it here!

Springtime in Germany

Before I get on to my actual post for this week, I would like to first suggest that you take a look at the comments from last week's post. Several people included links to their own personal blogs, and I loved reading through them. They are some great blogs. Don't miss them!! I am thinking a blog-roll of chromosome 18-themed blogs might be in order...

Now, on to today's blog post. I had INTENDED to make it a follow-up to my initial post about my pledge for the Registry's birthday. I want to take pictures of Registry items in various places. Why? Well, I don't really have a good reason, other than I love to travel, and I love the Registry.

The first picture was going to be posted today. It was taken in Warsaw, Poland a few weeks ago, and I just haven't posted it yet. And I won't be posting it today. You see, it is still on our camera's memory card. Which is still in our camera. Which is (presumably) in my husband's pocket. Who is currently on a Soviet-era train in Ukraine. It is a long story, involving an Icelandic ash cloud and an unexpectedly lengthy business trip to Kiev.

The end result: I don't have access to the picture of my Registry coffee mug in Warsaw. So, instead, I decided to take a picture of said mug here in Germany. This photo was taken in our backyard. I was trying to also get a picture of the autobahn in the background, but I think that effort was an epic FAIL. The only way you would know that it is the autobahn is if I told you that white splotch to the left of the mug is a semi-truck.


I think it is clear that I was never meant to be a photographer.

Anyway. Assuming the camera and its memory card appear at some point in the near future, I'll post another photo of a Registry item in a unique place. In the meantime, if anyone out there has photos with Registry paraphernalia from around the world (be it in the US, Finland, New Zealand, UK, South America) and would like them featured on the blog, send them my way at seboldc@uthscsa.edu!!! Traveling and learning about other places in the world is my very favorite hobby, and it is ALWAYS interesting to see where people are from or where they have been! In June, I'm traveling to Sweden for the European Society of Human Genetics Meeting (presuming that Icelandic volcano chills out a bit!) I'll definitely be taking some Registry pictures there!

The News

A few days ago, someone sent me a link to an amazing blog. It seems that the author is a photographer as well as a mother. She has beautiful photos on her pages, and I spent at least an hour browsing through her archives.

The reason that this particular blog was forwarded to me, however, was one entry in particular:

Nella Cordelia: A Birth Story

This post tells the story of a family whose second daughter was diagnosed with Down syndrome shortly after birth. It is a beautiful, poignant, and honest entry. And it got me to thinking.

I wondered about the experiences of families with chromosome 18 changes. When did people learn of the diagnosis? Before the baby was born? Or perhaps after a "diagnostic odyssey" involving lots of tests, referrals, and so forth? Were their experiences similar or different to the one described by this author? I wonder if it makes a difference that Down syndrome is relatively "common", when compared to the conditions we see in the Registry. Or are those feelings of shock and bewilderment universal?

I also wonder if there is anyone out there that would be willing to share a little about their experiences. I'm not talking about a novel (unless you feel like writing one!) I would just be interested to hear what people think about this woman's experience, and whether/how it is similar or different to their own.

If there is anyone that would like to let people know about their story, feel free to leave a comment here!

Everything I Do...

So, the other day, I had a conversation with a father of a child with a chromosome 18 change. As are pretty much all my conversations with families, it was lovely.

Towards the end of our conversation, he mentioned that he and his family have been contacting major sports franchises, encouraging them to learn more about their child's condition and to support the Chromosome 18 Registry & Research Society. It really got me thinking. The parents and families that I have met have impressed me so much with the lengths that they are willing to go for their children.

I think most people know about the story of the Registry's founder, Jannine Cody. (And if not, you can read about it here.)

But, as we all know, parents and families complete unbelievable feats of strength every day that don't make it into Time magazine. The mere act of balancing dozens of appointments would require a full-time assistant for most people! Friends and families organize events and fund-raisers. Parents advocate tirelessly for better services for their children. They spend hours upon hours doing research online. They lobby their government to change laws to protect and help their children.

While I was thinking about families' dedication to their children, I couldn't stop a particular song from popping into my head. Forgive my nostalgia as I dredge up this hit from the '90s!