Innerview with Kristy Colvin

Yvonne Pierre: For those of us who are unsure; Kristy, what is Mosaic Down syndrome (MDS)?

Kristy Colvin: Mosaic Down syndrome is considered a rare form of Down syndrome. According to research, 2-4% of the Ds community has MDS. However, we realize that this is based on misdiagnosis and there is a much larger percent of individuals with MDS. When a person has mosaic Down syndrome, a percentage of their cells have an extra copy of the 21st chromosome and the remaining cells are unaffected.

What is the typical age for parents to find out that their child has MDS?
Typically, a child is diagnosed with mosaic Down syndrome between the age of 1 and 3. The reason for this is because the majority of people with mosaic Down syndrome do not exhibit the strong physical characteristics similar to Down syndrome and most doctors are not aware of this even exists. However, since IMDSA has been in existence more babies have been diagnosed than ever before.

Your son Tim was diagnosed with MDS, what gave you an indication that he needed to be tested and at what age?
I had no idea that he had any form of Down syndrome. When Tim was born, he was 2 months premature, so when he was a little late at crawling and sitting, I didn’t think much of it. But, then when he turned one and still wasn’t walking, I became concerned. At 15 months old, I took him to the doctor and demanded that she “Make him walk!” Finally, at 17 months old, I worked with him for an entire day getting him to take steps towards me and by the end of the day he was walking. This satisfied me for a while, until he was 2 ½ and not talking the way other 2 year olds were. Again, I went to the doctor and demanded that she “Make him talk!” After a long battle with the doctor, I was able to talk with specialists and this was when he was diagnosed with mosaic Down syndrome.

Kristy, what was your reaction after receiving the diagnosis?
I had all the emotions that a parent goes through when they first get this diagnosis. I was angry because the diagnosis was so late and I felt as though he could have been having therapy these past 2 years and maybe he wouldn’t have been so delayed, then I was worried and scared because I didn’t know what this was all going to mean for Tim, but also I was relieved. Because, finally I had an answer to Tim’s problems in speaking. I think for quite a while, even though I felt that relief, I was still in a state of shock, and I did worry for a short time of the unknown.

What did your son Arron who was 6-year-old at the time asked about Tim?
My eldest son, Arron saved my life that day. I had been walking around in a fog for weeks. I was going through the motions of motherhood. The kids were fed, bathed, dressed, and cared for, but I was clearly not the mom they knew. I didn’t want to worry Arron with this new news of Tim’s diagnosis. Besides, how could I explain to a 6-year-old something that I barely understood myself? Since Tim’s diagnosis, our lives had changed. We were running from appointment to appointment, getting evaluations, and preparing for the Speech and Occupational Therapy that he needed. No matter how “normal” I tried to make things seem, it was obvious to Arron that something had changed because his mommy wasn’t the happy person he was used to no matter how much I tried to project that. And, he knew it had something to do with his little brother, since he became the center of attention with all the appointments.

Then, finally, one evening when I was tucking Arron into bed he said, “Mom is there something wrong with Tim?” My heart sunk. I worried about how he would take this news. I worried that I was going to project my worry onto him. But I sat down on his bed and I told Arron that Tim had mosaic Down syndrome. I told him that this was why he wasn’t talking so well, and that he may have some trouble learning. Arron looked up at me with his big, brown eyes and asked, “So, he isn’t going to die?” And, I thought, “Oh my gosh! All this time I have been worried about Tim not talking and his brother was worried about him dying!” A speech problem is NOT the worst thing that could happen! Dying is the worst thing that could happen! That night I hugged Arron as tight as I could. In his short six years of life, he taught me the importance of life. He taught me that having mosaic Down syndrome is not the end of the world! That Tim would be OK. And this would all work out! Tim wasn’t going to die!

Many times when a parent finds out their child has a disability they tend to treat them slightly different such as babying. After finding out Tim had MDS, did how you treat him change?
After I received the diagnosis, I thought about my way of raising him. I wondered if I had been doing it all wrong! But then, I realized that Tim had not changed at all. He was the same little boy that he had been before the diagnosis. The only thing that had changed was that I knew about the diagnosis. And, no matter what, Tim had to live in the same society he had to live in before this diagnosis and he would be expected to act the same way as everyone else and do the same things as everyone else. I considered the weight of changing my parenting with him and realized that if I did change anything that I had been doing before, I would only be putting limitations on him. I wouldn’t be helping him in any way to treat him differently. So, I decided at that moment to treat him the same as I would any child his age and expect the very best from him always.

What are some signs to indicate that a parent should get their child diagnosed?
If a child has no diagnosis at all, some signs to look for are the same physical characteristics in Down syndrome, only these signs are not always as prominent. So, if the child has almond shaped eyes or very slight epicanthi folds in the eyes this could be a sign. Some children have a simian crease (one line that goes straight across the palm) in one or both of their hands. Others may have a flat bridge to their nose, or lower set ears. In a person with Down syndrome, all of these signs together make it easy to diagnose, but for a person with mosaic Down syndrome, the signs may be less prominent or there are just a few of them present. Other signs to look for are low muscle tone, difficulty nursing, delayed motor skills, and delayed speech.

However, if an individual is diagnosed with Trisomy 21 Down syndrome, and the parent suspects that this diagnosis is wrong, then they can look at a variety of things. First, if the child’s physical characteristics are not as prominent as they are for someone with Down syndrome, this could be an indication. Also, if they look back at past pictures compared to now and see that their child’s characteristic are fading over time, this is another high indicator because individuals with MDS often lose those prominent features as time progresses due to the cell rejuvenation in their bodies.

Another indicator would be to look at the developmental chart that compares those with MDS and DS. This is not an absolute, because everyone is different and develops at their own pace, but this is the average age for developmental milestones according to research.

Why is being diagnosed important?
Many parents feel that they do not want to put a label on their child, so they do not pursue a diagnosis. However, this is far more than putting a label on a child. People with mosaic Down syndrome are at risk for the same health problems as a person with Down syndrome. Some of these conditions include heart defects, thyroid disease, digestive problems, and compromised immune systems. Without this diagnosis, doctors will not know what to check for regularly and the person’s health could be in danger without this preventive care.

Also, if a child has developmental delays, but not a diagnosis, it can be much more difficult to get treatment for these delays.

Getting a diagnosis does not change whom the person is. But it will change the way they are helped and cared for, and that is the most important thing.

What are some of the myths and misconception of mosaic Down syndrome (MDS)?
There are many myths and misconceptions about mosaic Down syndrome. Probably the biggest one is that people with mosaic Down syndrome do not experience the same delays and health problems. This is not true. Because a person with MDS has a percentage of cells in their body with the extra 21st chromosome, they can, and often do, experience the same types of delays; it may just be at a different degree. On average, a baby with MDS will walk 4 months before a baby with Ds, but that milestone is still considered 9 months later than a baby without a chromosome anomaly. On average, children with MDS talk 2 months later than their peers with DS.

Another misconception is that because people with MDS do not look like they have Down syndrome, they are not affected as much. The old adage, “You Can’t Judge a Book By its Cover” holds true here. Just because they don’t have the physical characteristics of Down syndrome, does not mean that they are “less affected”. All this means is that the percentage of extra cells are not in the area that causes the physical characteristics. Because a person with MDS has a percentage of cells, and those cells could be anywhere in the body, each person is affected at varying degrees.

What inspired you to start International Mosaic Down Syndrome Association?
When Tim was first diagnosed with mosaic Down syndrome, I read every book that was available on Down syndrome searching for information on my son’s rare diagnosis. In every single book, the only thing that was written about MDS was “Mosaic Down syndrome is so rare that your child doesn’t have it.” I called my local Down syndrome Association and they had no information to give me. I was unable to find anyone who had a child with mosaic Down syndrome. I felt as though I was the only person in the world who had a child with this rare disorder. It was a horrible feeling to feel that I was completely alone!

Eventually, I gave up in my search and just raised Tim the best way that I knew how. Then, in 1999, the boom of the Internet had really taken off and I got online for the first time and decided to do a search on mosaic Down syndrome not really expecting to find anything. I was pleasantly surprised to find a brand new website and online e-group with a handful of parents throughout the world who had children with MDS. As we began to talk and compare notes, we started learning more about our children and realized that we were not alone. We began making plans for a little “get together” and in this time, more and more families joined our group asking questions and needing answers. It was at this time that I realized that we needed more than just a “get together”; we needed an organization that would provide support, information, and research to help these families answer the questions that they had about their children. So, several parents got together and we studied up on how to form a nonprofit organization and IMDSA was born!

Why did you choose to make it an international company versus just focus on American families with MDS?
Mosaic Down syndrome is rare. According to research, 2-4 % of the Down syndrome community has mosaic Down syndrome. We know from our studies that the number is much larger because a large percent are misdiagnosed with Trisomy 21 and an even larger percent are living out their lives without even knowing they have these extra chromosomes. Families are spread throughout the world. The families outside of the US need the same information that the families in the US need. How could we possibly say no to one family? Our organization became what it is from the beginning from parents throughout the world. One of our co-founders is still on our board and serves as our Secretary and Webmaster and she lives in Australia.

What is Genes Day and what is the mission behind it?
Genes Day is a very special event that we at IMDSA are extremely proud of! Several years ago, World Down Syndrome Day was made for March 21st. This date signifies the 3rd copy of the 21st chromosome. To commemorate this day, IMDSA designed Genes Day to educate the community on Down syndrome and mosaic Down syndrome. A child with DS or MDS lives within the community. They go to school, they grow up, and eventually they will work within their community. Genes Day is designed to teach that community from elementary to the work place all about Down syndrome or mosaic Down syndrome, so that as this child grows, the community will understand that having these extra chromosomes does not make the person very different from them. With this event, they will learn that the person has the same feelings, wants, and needs as they do, and that they are very capable human beings.

Genes Day is designed to educate in several ways. Many local DSA’s are integrating this into their events. So, I suggest that families ask their local DSA if they are hosting a Genes Day. We will have information up on our site within the next couple of weeks telling you how to host a Genes Day event.

THIS IS HOW GENES DAY WORKS:

IN THE OFFICE

•Families encourage co-workers to donate $1 or more to wear their “jeans” on a specified day. (March 21 falls on Saturday this year, so most will do this March 20)
•Families pass out printed material educating their co-workers about Down syndrome. (IMDSA will have these downloadable documents on our site)
•Families make personal pages with pictures of their child to post in their coffee rooms and bulletin boards to encourage others to wear their jeans on the specified day and donate to have the privilege. (sometimes placing a canister on a desk or a public area is helpful to raise donations)
•On the day of the event, everyone in the office can wear their jeans and T-shirts with the special Genes Day logo to let everyone know they are wearing their Jeans for Genes Day.

IN THE CLASSROOM

•Parents speak with principal to get permission first
•Children raise Dimes for Down syndrome for 21 days (or whatever you wish to specify)
•If children wear uniforms at school, allow this to be a special day to wear their jeans
•If children wear jeans daily, then encourage them to decorate their jeans for this day (a contest can even be held for the best decorated jeans, if desired)
•IMDSA will provide you with special activities for the classroom that can be done throughout the day to help peers understand that even though their classmate with Ds does things a little differently, they still are just like their peers. (These games are simple, but are enjoyed by children of all ages!)
•Provide printed material to hand out for children and their families to learn more about Down syndrome
•Ask local Pizza place to donate Pizza party to top classrooms who raised the most money
•If parent feels comfortable with it, they can address the school and explain about Down syndrome (we have a simple “cookie recipe” to help children understand this better.
•Students and/or staff can wear their Genes Day T-shirts with their jeans.

IN THE COMMUNITY

Some families do not work outside of the home, but because this is a community event, these families can be involved as well!

•Visit neighborhood businesses and explain about Genes Day while passing out fliers and information
•Provide a jar for counters to raise money for this special day
•Encourage banks, pharmacies, offices, restaurants, and churches to wear their jeans on Genes Day
•Follow up with these businesses and be sure they are involved
•Provide T-shirts to wear with their jeans on Genes Day 

What are some other projects that your organization has going on?
The Down Syndrome Association of Greater Cincinnati is hosting our 2009 Research & Awareness Conference. We are so excited about this conference that it is very hard to go through the planning motions because we all just can’t wait for it to happen!

The first question parents have is, “Is this conference just for MDS?” The answer is NO! This is a Down syndrome conference! Because people with MDS have the same delays and medical conditions as a person with Ds, this conference will address ALL of these issues surrounding Down syndrome and everyone will benefit from it regardless of what form of Down syndrome their loved one has.

This is a life-span conference, so no matter how old or young your child is, we have workshops for you! As a parent of an adult with MDS, I know that many parents of adults with DS and MDS feel like they have already heard it all and that there is no more help for them! This conference will address ALL the adult issues and at the same time, it will address all the baby, toddler, school age, and teen issues as well! We are planning 4 consecutive workshops to address these needs throughout the weekend with over 30 speakers presenting at the main conference.

Additionally, we have a Youth Conference and a Kid Konference for those with MDS, DS, and their siblings from ages 2-adult. (They will be separated into individual conferences according to age for maximum fun) We also will have onsite Research for those interested in participating in DS or MDS research, exhibitors, and our Student Program that helps Genetic Counseling Students get hands on knowledge that no textbook or lecture could ever teach them.
The conference will be held July 10-12, at the Sheraton Cincinnati North Hotel in Sharonville, Ohio (just outside of Cincinnati). This weekend will be, without a doubt, a family memory of your lifetime! The hotel includes a 50,000 sq ft Indoor Water Park! They have slides, pools, and everything no matter if you are 2 yrs old or 80 yrs old!

The hotel and the conference registration will be booking up quite quickly. The early registration deadline is March 31st, so I advise that everyone book their hotel and complete their registration very soon!

You can do that on our site as well as find out all the details and view the great list of our scheduled presenters at http://www.imdsa.org/Conference/conference.htm.

Once a child has been diagnosed with MDS, what should that parent do immediately?
I think that the first thing they should do is take a deep breath and know that everything WILL be OK! Then, the next step would be to call IMDSA. This is a lot of information to take in at once and we have found that in most cases the information that the parent initially received is incorrect. So, if they give us a call, we can give them the correct information, help them with their next steps on how to help their child succeed, and connect them through our Family Connect program with other families in their area, so they will know that they are not alone. Our phone number is (979) 828-4177 or if inside the US and you do not have long distance, you can call 1-888-MDS-LINK

What are some life lessons you have learned from being a parent in general?
Children grow up fast! My youngest is about to be a teenager and I am still relishing his first steps! My oldest has already given me 4 grandsons, and they are growing too fast too! The most important things that I have learned in having 5 sons is don’t say no to everything, because when it matters the most, they won’t really listen. And listen to them and give them the respect that you want them to give you. Let them know that you value them as a person and that what they say and how they feel is important. Never take a day or a moment for granted, because it could be your last. I have learned that when all else fails, Prayer works! And, that I should have started with prayer in the first place. I learned to let your child make mistakes, because through those mistakes they will learn their own life lessons.

The most important lesson that I have learned through my children is that it is the little things that matter most. If you ask any of my children what they received on Christmas when they were 5 years old, they couldn’t tell you. But if you asked them what they did that Christmas, they could probably give you every detail of the day. It is because together we make memories and it is those memories that matter and the little details of snuggling on the couch or laughing at a silly joke, those are things that we remember because life is far too short to not enjoy the simple things that make life worth living.

What are some life lessons that you have learned from Tim specifically?

Tim has taught me that nothing is impossible. Nothing is unobtainable. And everything is worth something. He has taught me how to be a strong and independent person. He has given me a voice that I never knew that I had before! He has taught me to laugh, especially when I feel like crying. He has taught me that life is what you make it. He has taught me to believe in my instincts and not what others think to be true. All of my children have made me the person that I am today, but Tim has enabled me hold my head up high and has given me the confidence that I needed to be the person that I am now.

How can people find out more about you and your organization?
Visit our website! www.imdsa.org or give me a call at (979) 828-4177 or 1-888-MDS-LINK

What additional information would you like to share that will benefit other parents?
I write a daily blog on Down syndrome and mosaic Down syndrome. Here, I answer questions, tell stories and address all the issues that face those with DS or MDS. The site is Mosaic Moments