2012: A Busy, Busy Year!

Well, it has been quite some time since anything was posted on this blog, and for that, I must apologize!  It has been a busy time within the Registry.  This past summer was particularly packed!  I thought I might write a bit about the things that have been keeping us busy busy busy!

1.  The 2012 Golf Tournament.

This is one of the largest fundraisers we hold, and it is always a lot of fun!  This year was no different.  The event was held at the Canyon Springs Golf Course in San Antonio. You can read about all the details here.  There are a lot of photos over there, but I thought I'd re-post a few of my favorites.

The lab team from the Chromosome 18 Clinical Research Center, manning the margarita bar!

The two ladies that started it all: Jannine and Elizabeth Cody

As we do every year, there was a balloon release in honor of the people we have lost in the past year.

The day was a fantastic success.  It was a lot of fun and also very meaningful to the golfers, the volunteers, and the Registry families who will benefit from the research this event helps to fund!

2.  The conference in San Antonio.

Every four years, the conference comes home to San Antonio.  This not only gives conference attendees a chance to visit our lovely city, it also gives the people within the Research Center a chance to meet families.

If you haven’t already had a chance to look at the summary and videos from the conference, we invite you to do so here!

3.  The conference in Milan.

In early August, The Chromosome 18 Registry & Research Society-Europe held its second conference in Milan, Italy!  One of the organizers, Sara Jackson, wrote a fantastic summary of the event, which you can read here.

As I am not physically located in San Antonio, I was not able to attend either the Golf Tournament or the Registry conference.  However, yours truly was lucky enough to be actually able to attend this conference, and I can tell you that it was fabulous.  Here are a few images I snapped from my camera.

Waiting for one of the talks to start.  Check out the fancy wall adornments!

The European conference has one huge challenge that the American conference doesn't: the language issue!  This is a photo of the translation booths.  These formidable people translated the talks into English, German, Italian, and French.

One of the favorite talks of the conference: the young adults panel!  These fantastic people took questions from the audience.  They had many questions from parents of young children!

Of course, one does not go to Milan without doing a little sight-seeing.  On the last day of the conference, a few of us took an adventure out to "Il Cenacolo" (aka, da Vinci's "Last Supper"). 

Dr. Hale, Dr. Cody, Liz, and myself, waiting to see "The Last Supper"!

As with the American version of the conference, the best part of this conference was the opportunity to see old friends, make new ones, and be connected with others who understand.  I shot the picture below through the window as I was leaving the restaurant on the last night of the conference.  You can see Dr. Cody, Denise, Sara Jackson, and other Registry members, whooping it up and just enjoying being in each other's company.

A good time.

 4.  Professional conferences.

In addition to family conferences and fund-raisers, we've been busy with attending professional conferences to keep up with the latest advances in our fields and network with other scientists.  I was able to go to the European Society of Human Genetics meeting in Nurenberg, Germany, and in a few short weeks, Dr. Cody will be attending the American Society of Human Genetics meeting in San Fransisco.

So, as you can see, it has been a busy several months!  And it doesn't look like things will be letting up any time soon!  The annual Phantom Tea Party is just around the corner, not to mention the holidays!  That being said, though, I hope to post here more slightly more frequently, just to give you an idea of the various things that are going on in the chromosome 18 community!

Step 10: Individualized Treatment Plan

The ultimate goal for all of our research is to reach this 10th and final step: the creation of an individualized treatment plan! 

With all the information we will have gained over the years, the experience for future families diagnosed with a chromosome 18 condition will be very different from those who came before them. 

Because we will know which genes are responsible for which features of each of the conditions, we will be able to offer predictive information to a family based on the deletion or duplication.  We can start screening for the specific health problems that the child is at risk for.  We can start offering targeted therapies for the developmental challenges that are associated with the condition.  For those conditions that have approved drug treatments, we can start treatment.

It will take a lot of work, patience, and dedication on the part of both the researchers and the families.  However, it is definitely possible to make chromosome 18 conditions “treatable”, and we will continue to work to make that a reality for the families of the Chromosome 18 Registry!

Step 9: Clinical Trials

If our mouse experiments have shown that a candidate drug is safe and effective, it is time to move on to the final stage: clinical trials!

Ultimately, the clinical trials will tell us whether people get the same benefits from the treatment as the mice did.  These trials are very heavily monitored and regulated by the government to ensure that researchers gain the most information while ensuring the safety of the people participating in the research. 

Clinical trials have multiple phases, including phases to determine dosages, efficacy, and side effects of the treatment.  These trials frequently last several years and involve children and adults with the condition we are working to treat.

Once a treatment has made it through the clinical trials and has been approved by the FDA, it is finally available for treatment!

Step 8: Animal Models

Once we have identified a treatment that seems to work in test tubes and petri dishes, it is time to see whether it works in living things.  The most common animal used in these types of experiments is the mouse.  We would use a mouse that has been specifically genetically engineered to have a missing or extra copy of the gene that we were evaluating in the lab.  These mice would have similar medical problems to the ones seen in individuals missing that particular gene.  The mice experiments will tell us many things. 

First, we want to know whether this treatment is effective in a living organism.  Experiments in a test tube can be rigidly controlled.  We can control which reactions go on inside the test tube.  We can also control the amount of different substances and proteins we put into the experiment.  However, a living organism is much more complex, and no test tube experiment can fully replicate the full range of reactions and variables that are present in an animal.  We want to know whether, in the complex environment of a living organism, the drug either reduce or enhance gene expression.

Another goal of these experiments will be to see whether the drug actually makes the problems better.  Does compensation for the extra or missing gene actually cure the problem, or, at the very least, improve it?  For example, if we know that a gene is linked to dysmyelination, does treatment with this drug candidate improve myelination in these mice?

Third, we want to get an idea about the potential side effects of this drug in living organisms.  If the drug successfully treats the underlying problem but the side effects are worse than the original problem, it is probably not a good drug candidate.

Once we have determined that a particular drug is effective and safe in mice, we can move on to the next stage: clinical trials!

Step 7: Treatment Development

This step marks the beginning of our ultimate goal: the development of a treatment for chromosome 18 conditions!  Up to this point, we have…

1.  Learned all that has already been written about the condition (Literature Review)

2.  Fully investigated individuals with these conditions, both from a clinical and a molecular standpoint (Clinical and Molecular Assessments)

3.  Fully described the various medical and developmental concerns associated with the condition (Syndrome Description)

4.  Identified the genes directly responsible for the various features of the condition (Gene Identification)

5.  Created personalized management plans based on the genes involved (Syndrome Management Plan)

6.  Figured out how a change in the number of genes leads to the features of the condition. (Gene Function Studies)

We’ve come a long way from where we started, when precious little was known about each of these conditions.  At this point of the path, we will be able to predict which children are likely to have which complication, and we will be able to make up a plan specific to that person’s genetic situation.

Of course, there is still much work to be done.  We still want to develop a treatment that addresses the root cause of the issue: the deletion or duplication.  We are looking for a molecular “fix”, so to speak.

To do this, we must look for treatments that “make up” for the missing or extra pieces of chromosome.  In order to understand how we approach this challenge, it is important to have a basic understanding of genetic concepts.  Humans have two copies of each chromosome.  Genes are located on the chromosomes.  These genes code for proteins that play different roles throughout the body.  There are proteins that carry oxygen, proteins that help digest food; proteins that tell our body when to start producing certain hormones, and more!  Proteins play an important role in all of the body’s functions. 

So, what happens when there are missing or extra copies of a gene?  There may be too little or too much of the protein that the gene codes for.  This is likely the mechanism by which missing or extra copies of a gene lead to the various concerns associated with chromosome 18 conditions.  So, we want to find drugs that will either (1) increase the expression of a gene in a person with a deletion or (2) decrease the expression of a gene in a person with a duplication.

We start our search for a treatment in the laboratory.  We look at the effects of different drugs on gene expression.  At this point, we are just looking at the effects of the drug in vitro.  This means that we are looking at how the drug works outside of a living organism (for example, in test tubes or petri dishes).  When we find one that seems to affect gene expression, we have found a potential treatment!  It is then time to move on to our next step: Animal Models!

Step 6: Gene Function Studies

Happy Thanksgiving, everyone! In celebration, I'm finally getting around to posting the next step in our "Path to Treatment" for chromosome 18 conditions.

So far, we've talked about:

Step 1: Literature Review
Step 2: Clinical and Molecular Assessments
Step 3: Syndrome Description
Step 4: Gene Identification
Step 5: Syndrome Management Plan

Even after we have linked specific genes with specific features of the conditions involving chromosome 18, we still don’t necessarily have a good idea of HOW those genes cause medical and developmental problems. For example, we might wonder why it is that missing a specific gene causes severe language delays. Is it because the gene plays a role in how the way the brain develops? Or is it because it causes some problems with the way that the brain communicates with the muscles that control the muscles necessary for speech?

It is at this point that we really start relying on the experiences and knowledge of scientists in other disciplines. Many genes on chromosome 18 already have already had extensive information published in the scientific literature. Scientific papers might give us information about what happens when a single base pair in a gene is changed. Or it might tell us a little bit about the protein product that the gene is responsible for creating. Or perhaps where in the body those proteins are localized.

Unfortunately, there are also many genes on chromosome 18 that have very little information available. In this case, we can turn to an increasingly large variety of technologies that have been developed to understand gene function.

Once we understand how gene deletions and duplications lead to the various health and developmental concerns, we can start working to fix those problems at the molecular level. Basically, we want to find a treatment that can address the underlying changes in the genes and therefore the proteins that they code for.

Step 5: Syndrome Management Plan

We're continuing the "Path to Treatment" series today! As you may already know, the ultimate goal of the Chromosome 18 Clinical Research Center is to not to "manage" the chromosome 18 conditions, but to find treatments specifically designed for the chromosome changes. This is a long process, with many steps along the way. On this page, we have already discussed the first four steps towards meeting our goal...

Step 1: Literature Review
Step 2: Clinical and Molecular Assessments
Step 3: Syndrome Description
Step 4: Gene Identification

I also just realized that I have not posted a link that may help with the visualization of the whole process! Here's a diagram that shows the steps, in order, as well as where we are with the various chromosome 18 conditions. I'll also post a copy of the image below.

You might want to click on the image to enlarge. Or, visit this link, which will take you to a PDF that has brief descriptions of each step.

And with that introduction, I will start discussing the next step in the process: a "Syndrome Management Plan"!

Once we have identified the genes that are responsible for different features, we can start to create a management plan that is tailored to an individual’s specific chromosome change.

Right now, most chromosome 18 changes are diagnosed by a routine chromosome analysis. You can read more about how chromosome 18 changes are diagnosed here. The chromosome analysis can identify the chromosome change and the general location of that change, but it cannot determine exactly which genes were involved. So, even though we know that different genes are involved in different people’s deletions or duplications, the chromosome analysis does not give us enough information to know exactly which genes are different. Therefore, we cannot give people specific information about what to expect based on the results of the chromosome analysis. Instead, we must rely on a general description of the chromosome change to give families an idea of what types of things to expect.

However, microarray analysis has changed all this. Microarray analysis is a new technology that can give us precise information about the location of a breakpoint, as well as the specific genes that are involved in a chromosome change. It can also detect much smaller chromosome changes. Now, when the diagnosis of a chromosome 18 change is made on a chromosome analysis, clinicians can perform a microarray analysis and learn which of genes are involved in the deletion or duplication. That information, combined with our knowledge of the roles that various genes play in causing medical and developmental concerns, will one day allow us to create personalized medical management guides for individuals with a chromosome 18 change.

This is probably best explained with an example. In the future, we will be able to say something like this: “Gene A is responsible for foot abnormalities, Gene B causes growth hormone deficiency, and Gene C leads to kidney problems.” Then, when a routine chromosome analysis identifies a deletion of the tip of chromosome 18, we will perform microarray analysis to get additional information about exactly which genes are involved in the deletion. Microarray results for this newly diagnosed individual may tell us that Gene A and Gene B are deleted, but Gene C is not deleted. Using this information, we can be sure that the family has a thorough orthopedic evaluation to detect any problems and start necessary treatments as soon as possible. We will also be able to tell the family that there is a high probability the child will develop growth hormone deficiency. We therefore will need to closely monitor growth and refer to endocrinology at the first sign of a problem. We can also tell them that a renal ultrasound is not necessary, because the gene for kidney abnormalities is not deleted, and therefore they are at no greater risk for kidney problems than any other children.

In this way, we can create individualized management guides that are specifically tailored to a person’s chromosome change.

While this is a step in the right direction, an individualized management guide is not the same thing as a treatment. From this point onwards, our efforts will be focused on identifying treatments that are specific to each chromosome change.

Step 4: Gene Identification

Today, we're continuing the "Path to Treatment" series here on this blog! The aim of these posts is to talk about the various steps that researchers go through in the question for treatments of the chromosome 18 conditions. You can read the previous installments here:

Step 1: Literature Review
Step 2: Clinical and Molecular Assessments
Step 3: Syndrome Description

The fourth step, gene identification, pulls together information from the clinical and molecular assessments. In essence, this step involves trying to link different features of the condition with specific genes on chromosome 18. We take a group of people with distal 18q- (or other chromosome 18 condition) that have the same feature, for example, growth hormone deficiency. We look at the data that we gathered during the clinical assessments and identify all individuals that did not respond to the growth hormone stimulation test, and are therefore growth hormone deficient. Because there is no common breakpoint on 18q, everyone has a different deletion involving different genes. We compare the deletions of the patients with growth hormone failure and determine which area of chromosome 18 is deleted in all those particular patients. This area is called the “critical region”. We would assume that the gene responsible for growth hormone failure is located within this region.

Usually, the critical region will contain several different genes. The trick is to determine which one is most likely to cause a problem when deleted or duplicated! We expect that only 5-10% of the genes on chromosome 18 will actually be responsible for the features of the chromosome 18 conditions. Considering that there are just over 300 genes on chromosome 18, we expect to identify about 15-30 genes that actually play a role in causing the medical and developmental concerns associated with the chromosome 18 conditions.

We have a number of different ways to determine whether a gene is in fact the one that we are searching for.

(1) We research the genes in the critical region. This usually involves several visits to the medical school library! We look at what has been reported in the scientific literature to determine where the gene is usually expressed, what its function is, and whether it makes sense that a deletion or duplication of the gene could lead to the feature we’re examining.

(2) We look at animal models. These are animals (usually mice) that have been bred to be missing a particular gene. We then look at the animal to see what problems it has. If it has the same issue that we are examining, such as growth hormone deficiency or a heart defect, then this is evidence that we have the right gene!

(3) We search for people with gene deletions of or single base pair changes in the gene of interest. For example, if we think that a particular gene is the cause for growth hormone deficiency, we might look at that gene in people with isolated growth hormone deficiency. If we can find changes in the gene in any of those people, that is even more evidence that we’ve found the right gene!

Once we have found the genes that cause the features of the chromosome 18 conditions, we can progress to the next step: the creation of an individualized management plan!

Blog Maintenance

Hi, everyone!

Just a note that I've added a few more chromosome 18 blogs to the list on the right of this page. When you have a few minutes, I hope that you will make a quick visit to their pages! They are some very talented and honest writers. And, of course, the photos they post on their blogs are simply fantastic.

Step 3: Syndrome Description

So far, we have gathered information about the effects of chromosome changes through (a) a literature review, and (b) a thorough series of clinical assessments. Now, it is time to pull together a syndrome description. This description is a comprehensive collection of all the different things that we’ve found in a group of people with a particular chromosome change. Some things might be quite common, such as strabismus in people with tetrasomy 18p. Other things might be seen in a minority of individuals, such as holoprosencephaly in people with 18p-. Other things might only be reported once, and it is unclear whether it is a consequence of the chromosome change, or perhaps it is completely unrelated to the chromosome change.

Once we’ve got the syndrome description, what do we do with it? Well, the first thing we want to do is share our description with others. We can do this in a couple of different ways. We write scientific papers for publication in medical journals to share information. We make presentations at various scientific conferences. We also share information with patient advocacy groups. In our case, this is mainly through the Chromosome 18 Registry’s website as well as at the annual Registry meeting.

The syndrome description gives families and providers an idea of what kinds of issues and concerns may arise in someone with a particular chromosome change. This gives them an opportunity to screen for problems, prepare for various possible outcomes, and just have a better idea of what kinds of things might pop up as a person ages. However, as most parents will tell you, a syndrome description is useful, but it most certainly is not the end-all, be-all. Although we are able to describe the different features that have been seen in people with chromosome changes, we cannot predict precisely who will get which features. There are still several steps that must be completed before we are able to provide personalized information based on a person’s specific genetic change.

Once we are able to fully describe the range of features that are associated with a condition, we can then start to figure out which ones are associated with different breakpoints. For example, we can ask questions such as, “What is different between people who have a breakpoint in 18q23.1 versus those with a breakpoint in 18q12.3?” In fact, this question leads us directly into the next step on the path to treatment: gene identification.

Step 2: Clinical and Molecular Assessments

Once we have completed the literature review, we can move on to the next step in the process: the clinical and molecular assessments.

Clinical Assessments. Using the information from the literature review, we can design a series of evaluations aimed at clarifying and expanding our understanding of the condition. The ultimate goal of this step is to understand how, precisely, the chromosome change affects a person. How does it affect development? What about bone structure? Does the chromosome change lead to any hormonal issues? How about vision? And hearing?

The information gathered in the literature review is critical in helping us with this step. Because we have been able to identify gaps in knowledge about the conditions, we can design assessments to fill in those gaps! Thanks to the literature review, we also know which features have already been described but still require additional investigations. For example, thanks to the literature review, we recognized that many people with distal 18q- have short stature. This led us to question WHY they have short stature. Is it because of a change in their bones? Is it because they are missing certain growth factors? We developed assessments that would help us answer these questions. We included bone surveys and growth hormone testing. We learned that many people with distal 18q- often have growth hormone deficiency! With that knowledge, we were able to start treating people, which, in many cases, led not only to an improvement in growth, but also an improvement in cognitive ability!

As you might have guessed from the example above, the phrase “clinical assessments” may refer to a pretty wide range of possible evaluations. It might involve an examination by a medical professional, such as a geneticist or an ophthalmologist. It might involve imagine studies, such as x-rays or an MRI. It could involve some blood work to look at different hormones and other substances in the blood. Surveys might be used to determine whether behavior and intelligence are affected by the chromosome change.

In addition to deciding which assessments to complete, it is also important to determine who will perform those assessments. Obviously, we want only highly-qualified professionals performing these evaluations. They should have advanced training in their area of expertise, and they should also have experience in working with people with intellectual or physical challenges. This is where our team of clinical investigators comes in. We have assembled a team of professionals who help us design informative evaluations.

In addition to designing the evaluations, our team of clinical investigators is also responsible for performing those evaluations. It is very important that every person we see is evaluated using the same protocols; ideally, the same professional would perform the evaluation as well! This is important because we want to make sure that any differences that we identify between study patients are not due to different procedures. In other words, by ensuring that every study patient goes through the same evaluation process completed by the same clinical investigator, we ensure that we are collecting the most reliable data!

One last word about our team of clinical investigators. All of our clinical investigators collaborators have one very important quality: the ability to think outside of the box. In addition to performing evaluations and making treatment recommendations, our clinical investigators must also be able to take their findings and move them to the next level. In other words, they need to understand underlying biological and molecular mechanisms and use that knowledge to identify novel treatments. This requires them to keep abreast of all the latest developments and technologies in addition to seeing patients, interpreting complex data, and writing manuscripts! No small feat!

Molecular Assessments.

While our clinical investigators are busy evaluating patients and interpreting clinical data, our laboratory technicians are busy examining the molecular basis of the chromosome 18 conditions. The molecular assessments we complete in the laboratory are focused on chromosome 18 and provide us with more data than tests run in clinical laboratories. This is important for two reasons.

First, we must confirm that everyone in a particular study group has the same chromosome change. We have to make sure, for example, that individuals in the 18p- study group do not also have a duplication or deletion on another chromosome. If there are other non-18 chromosomes involved, it is more difficult to determine the effects of a chromosome 18 change. For example, if a child with a heart defect has both a deletion on chromosome 18 as well as a duplication on chromosome 6, we would not be able to determine whether the heart defect is due to the missing genes on chromosome 18, the extra genes on chromosome 6, or a combination of the two!

The second reason that a molecular assessment is so important is that it allows us to determine which genes are involved in the chromosome 18 change. We use the latest technology to identify the precise locations of the breakpoints involved in a deletion or duplication. This is a critical step in understanding which genes lead to a medical or developmental problem. This in turn will tell us about the underlying biology of those problems, which will hopefully lead us to treatment and prevention options.

Once we have thoroughly assessed and evaluated many people with the same condition, it is time to pull all of our data together to create a syndrome description. This is the next step along the pathway to treatment.

Step 1: Literature Review

In order to plot out our research course for the future, we have to know where we’ve already been. What has already been studied? What questions have already been answered? What remains unknown? We answer these questions by completing a review of the medical literature.

Sounds easy enough, doesn’t it? We just need to do a quick search on PubMed (which catalogs all the manuscripts published in most academic journals). Then, we just read them all and VOILA! Literature review complete!

Unfortunately, this is not the way it works.

The first step in performing a quality literature search is the search itself. We often have to use multiple different search terms and weed through the results to find the articles that are relevant to our research questions. This is often easier said than done. For example, let’s say we want to look for all the articles ever published about 18q-. We would have to use multiple search terms, including “18q-“, “deletion 18q”, “de Grouchy syndrome”, and several others in order to capture all the articles that have been written about this condition.

Once we’ve created the list of articles we wish to review, we actually have to track down those articles! This is pretty straightforward, but it can be time-consuming! Some articles are available online, but many (especially the ones published several years ago) have to be manually located and copied. Or, if the library does not subscribe to a particular journal, the article must be ordered from another institution.

Usually, the stack of articles is at least several inches thick, if not more. Now the REAL work can begin! We read each article carefully and thoroughly, looking for information that is relevant to our research questions. We’re looking not only for information about the clinical features of the condition, but also information about the molecular nature of the genetic change. It is important to read all manuscripts with a critical eye and ask the question, “Does this relate to the questions we’re asking? Did the authors use appropriate methods to get their data? What are the conclusions of this paper? What impact does this paper have for the direction of our research?”

Of course, the literature review is not something that is every truly completed. Hundreds of articles are published every month, so we must repeat our original searches every so often to make sure that we catch any new information that is out there.

Once we have a good idea of what is already out there, we can move on to the next step in the research process: the Clinical Assessments.

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.