Delivering a Down Syndrome Diagnosis- A Physician’s perspective

July 13, 2018 by Dawn@cedarsstory.com 2 Comments

Delivering the diagnosis is such a monumental responsibility, what is a physician’s perspective of delivering a Down Syndrome diagnosis?

“Yes, he has Down Syndrome. “

We made the appointment, we suspected he did from his physical characteristics, but a mama denies till she cannot deny any longer sometimes.

“He has Down Syndrome.” Those were the words that my pediatrician spoke but it was more her presence that spoke volumes, oh and the things she said afterward while I was feeling the shock, and the splash of the tears.

[Read more…]

10 ways I was ignorant about Down Syndrome

June 22, 2018 by Dawn@cedarsstory.com 5 Comments

10 things I’ve Learned about Down Syndrome

Before my son was born I have shared that I had a very stereotypical view of what Down Syndrome was. I simply knew that there were specific facial characteristics associated with the genetic anomaly, that it was a genetic numerical difference, and that it was also known as Trisomy 21.

My only real-life experience was when I was in high school and I saw the little yellow bus drop a few kids off in the classroom at the end of the hall. There was no inclusion then. I then would occasionally see these same kids in the hallway between classes, I remember one boy named Peter who smiled a lot and another boy who yelled.

[Read more…]

What if you have a Down Syndrome baby

June 15, 2018 by Dawn@cedarsstory.com 2 Comments

What if you have a Down Syndrome baby?

I heard some moms talking not too long ago and this was the topic of discussion. One of the moms was waiting for a blood test that reportedly had some possible concerns and the topic came up. The women exited the waiting room before I had a even had a chance to interject and I did not have my son with me at the time. So, what if you have a down syndrome baby?

Does that mean that your life is over? I know that is the first thought that crossed my mind. I thought that we would never have smiles, fun, and excitement in our lives anymore. I thought that I was going to have this little one that just stared off at a wall somewhere, drooled on himself, and had a perpetual blank slate for a face.

3 Types of Down Syndrome

June 13, 2018 by Dawn@cedarsstory.com Leave a Comment

3 Types of Down Syndrome

Did you know that Down Syndrome, otherwise known as Trisomy 21, actually has 3 types? It is a little known fact as most make the assumption when they see someone with down syndrome characteristics that one size fits all, but that is simply not the case. There are actually 3 types of Down Syndrome.

Because of the differing abilities from one individual with Down Syndrome to the next, it is often assumed that Down Syndrome is a spectrum disorder. This is not true. Down syndrome is completely different from Autism and other spectrum disorders; the two diagnoses have nothing in common unless the individual happens to receive a dual diagnosis later in life.

In order for someone to be diagnosed clinically as having Trisomy 21, or Down Syndrome, there has to have been a genetic karyotype test. This test is to determine the presence of an extra copy of the 21^st chromosome in the genetic map that makes each person an individual. This diagnosis, post karyotype test, is important because there are some children who may exhibit soft markers for Down Syndrome, but in fact, may not have the extra copy of the 21^st Chromosome.

If the extra genetic material is not there on the 21^st set, the person will not be diagnosed as having Down Syndrome. If the genetic material is there, it is important to get the diagnosis so that the child can access early intervention services and qualify for any special needs assistance that can be provided.

Let’s start with the basics, what is a chromosome exactly? A chromosome is a threadlike structure that carries genetic details in the form of genes, genes are the blueprint details that determine how you will look, what color eyes you will have, whether you will be a good musician, and so many other fine details that make each person an individual.

3 types of down syndrome — Source genome.gov

But, what happens when there is an atypical event during conception? Typically the baby is conceived with 23 chromosome pairs (46 individual chromosomes), when something atypical happens the baby is conceived and at some point, possibly during cell division, with an extra chromosome or sometimes just a piece of chromosomal material. This seemingly small event has wide reaching consequences and forms the basis for many of our genetic differences today. Specifically when the 21^st chromosome is the one affected there are then 3 types of down syndrome that can happen as the result.

Classic Trisomy 21

In these types of down syndrome all copies of the 21^st chromosome are in triplicate. This is the case for 95% of babies who will be diagnosed with Down Syndrome. The extra genetic material affects each person differently. Some individuals will function very well with no health issues to speak of and the ability to function cognitively very well. Some individuals will have more affects with their physical makeup such as heart issues, intestinal tract difficulties, and other motor and cognitive abilities.

Because there are a variety of ways in which a person is able to function and is affected by the extra material people often think that this is a spectrum disorder. Trisomy 21 is not a spectrum disorder it is a genetic difference at the very basic level of our human makeup.

Translocation

Another of the types of down syndrome is when extra genetic material is attached to the 21^st chromosome, but it may not be a full and separate chromosomal piece. This can be thought of as though it is kind of like a small hitchhiker that is caused by rearranged chromosome material. So instead of a full third strand of Chromsomal material, there is a piece of chromosomal material attached to one of the other full chromosomes. The most interesting part about this specific kind of Down Syndrome is that the extra piece of chromosome 21 can actually attach itself to another chromosomal pair such as the 13^th set or the 15^th set. It does not always attach itself to the 21^st set but it is a 21^st chromosomal piece. (source CHOPedu)

This type can be hereditary but is the only type that is. According to the Children’s Hospital of Philidelphia:

3 to 4 percent of babies born with Down syndrome have translocation Down syndrome. Whenever a translocation is found in a child, the parents’ chromosomes are studied to determine whether the translocation was inherited or not. If one parent has the translocation chromosome, then the doctor knows the baby inherited the translocation from that parent. When a person has a rearrangement of chromosome material, with no extra or missing chromosome material, he or she is said to have a “balanced translocation” or be a “balanced translocation carrier.(CHOPedu)

Mosiac Down Syndrome

The last of the types of Down Syndrome is Mosiac. In Mosiac Down Syndrome, only some of the person’s 21st set of chromosomes are in triplicate and others are completely unaffected. In the microscopic world some samples of the chromosomes in a karyotype test will look like typical children and others will be affected by the presence of a 21^st chromosome.

These cases have a tendency to exhibit fewer of the physical characteristics of Down Syndrome and often it can be difficult to tell, at first glance, that they have Down Syndrome. (1-2% of cases). One if the interesting facts about Mosiac Down Syndrome is that it is not at all uncommon for someone with mosaic down syndrome to go undiagnosed until months or years after birth when some of the more noticable cognitive and developmental delays may show up.

For more information about what a Down Syndrome Diagnosis means check out these related posts:

THE BEST DOWN SYNDROME BLOGS

Premium Sterling Silver Three Twenty One Necklace

Top Down Syndrome Conferences to Attend This Year

June 9, 2018 by Dawn@cedarsstory.com Leave a Comment

Down Syndrome Conferences

If you are newer to the realm of the Down Syndrome tribe, you may not even know that around the world there are conferences that occur to unite, educate, and empower people with Down Syndrome, their caregivers, and loved ones. There is just something about being at an event with hundreds of others like you and your loved one that leaves a person empowered and uplifted. So, without further delay, here is a list of Down Syndrome Conferences for 2018.

JULY 2018

NATIONAL DOWN SYNDROME CONGRESS

NDSC Annual Convention – Sheraton Dallas Hotel, Dallas, Texas: July 12-15, 2018

What’s the NDSC Annual Convention all about?

Each year, thousands of people from across the globe attend the NDSC Annual Convention. For most, it’s to hear the latest information from world-renowned experts. For others, it’s a great vacation. However, for nearly all, there’s the one-of-a-kind NDSC “giant family reunion” feeling that permeates the convention weekend.

PARENTS learn from the best, as internationally known experts come to the convention to share their knowledge across the life span of individuals with DS.
SELF ADVOCATES join together with over 300 friends from across the world to learn, share, become empowered and have an amazing time!
SIBLINGS share and learn alongside peers, from each other, as well as from professionals.
VOLUNTEERS have the experience of a lifetime by volunteering in a number of capacities available.

Thousands of parents, educators and self advocates attend this annual event. Use it as way to learn, grow and empower your story. Make new friends and connections. Some families use this time to take vacations as well. Learn from the internationally known experts as they share their knowledge with you.

WDSC 2018

Down’s Syndrome Scotland will be hosting the triennial World Down Syndrome Congress (WDSC) in Glasgow, Scotland.

More than 1,200 people from around the world will attend the four day event from 24-27 July 2018. The venue is the Scottish Exhibition and Conference Centre and it will be the first time that the WDSC will be held in Scotland.

Registration is open, to qualify for early bird rates register before 31 March 2018.

Deadline to submit a research abstract, practice workshop proposal, lived experience presentation proposal or performance proposal is 30 November 2017.

WDSC 2018 – Scottish Exhibition and Conference Centre, Scotland: July 24-27, 2018

By attending this conference you’ll get the opportunity of a worldwide Down Syndrome community. This event is crammed full of expert speakers sharing their cutting edge research and knowledge with everyone attending. This will be an amazing event to meet and make connections from around the globe.

SEPTEMBER 2018

Rockin’ Mom Retreat – JW Marriott Desert Ridge Resort and Spa, Phoenix, Arizona: September 7-9, 2018

Rockin’ Moms has online groups for moms of children with down syndrome. Click HERE to connect with a group. This will be their 4th annual conference. The goal of this conference is to gather together from around the country to connect, recharge and inspire moms of children with down syndrome. This event is for moms only, so plan ahead for childcare.

NDSS Buddy Walk on Washington Advocacy Conference – Registration for the 2019 Buddy Walk on Washington will open September 2018

The Buddy Walk on Washington Advocacy Conference is an annual two day event that brings the Down syndrome community together to advocate for legislative priorities that impact the lives of people with Down syndrome and their families. During the first day of the conference, advocates receive training. They head to Capitol Hill on the second day to meet with Members of Congress and their staff to discuss legislative issues that would advance education, research andhealth care opportunities for people with Down syndrome.

Canadian Down Syndrome Conference: Annual event held in May

The Canadian Down Syndrome Conference acts as a platform to share current developments and information from experts in their respective fields, as they relate to Down syndrome. Information in the fields of education, aging, health care, research, and advocacy will be shared with members of the community in the form of plenary/keynote speakers, panel discussions, and presentations.

INDIA INTERNATIONAL DOWN SYNDROME CONFERENCE: May 31st – June 2nd 2018

The goal of this conference is to not just connect with others, but to reach out to the people in India and around the world to talk about Down Syndrome and to provide the right kind of information to them to enable them to lead better lives. They hope to better educate the public in India about the possibilities and potential of all people with Down syndrome. One of their goals is to facilitate networking opportunities and assist in providing direct support for persons with Down syndrome and their families throughout the country. They want to try to bring to the mainstream individuals with Down syndrome in India in the field of quality education. Another goal is to empower persons with Down syndrome to become effective self-advocates who can speak for their rights and abilities.

Down Syndrome Association of Middle Tennessee: Vanderbilt Kennedy Center – September 12, 2018

This is a one day event, in the evening. Join advocate, former lawyer, and SEAC Executive Director Erin Richardson and DSAMT Executive Director, Alecia Talbott to learn how to be a better advocate for your child with special needs. Attendees will learn how to best prepare for IEP meetings, when to use an advocate and how they can help, and how to successfully advocate yourself. There will be plenty of time allowed for questions & answers. A light dinner will be provided. Childcare will NOT be provided.

DSAIA Down Syndrome Affiliates in Action Conference: Feb 28th – March 3rd 2019

The Down Syndrome Affiliates in Action Conference is focused on improving the way Down syndrome organizations deliver programs/services and operate as a nonprofit. The conference also helps deepen the connection the many DS leaders have within the community while allowing them to learn and network with the best in our community.

The DSAIA Conference is designed for new AND veteran leaders from established or growing Down syndrome-focused organizations across the country and the globe. This is a great conference to attend if you are looking to connect with community leaders.

NADS: National Association for Down Syndrome Conference: Chicago, IL Saturday, August 11, 2018

This will be a packed event! Several expert speakers with topics like Speech & Language Support, Reading & Writing Skills, Positive Behavior Supports, Dual Diagnosis, Sibling Support, Employment ,Physical Therapy, Nutrition, feeding and Oral Motor, Legal and Future Planning, ABLE Act, Education and IEP’s, Special Needs Yoga and even a special break out session only for older teens and adults with Down Syndrome. Conference attendees will find numerous opportunities to broaden their knowledge about Down syndrome and expand their personal network of contacts.

Down Syndrome Association of Florida: Annual Event

This 2-day annual conference presents state-of-the-art information and best practices concerning children and adults with Down Syndrome, their families, and professionals that serve them. The pre-conference sessions, reception, and workshops are all designed to meet the needs of family members, educators, advocates, health care providers, and Self Advocates. The conference includes workshops intended to serve every audience. This is an annual event with nationally acclaimed speakers and resources! They also offer several summer fun groups and programs.

MDSC Annual Conference: March 23, 2019

Each spring, hundreds of people with Down syndrome, their family members, health care professionals and educators from across New England attend the MDSC Annual Conference.Attendees gather to hear the research findings and important information from national and local experts on a range of topics related to Down syndrome. They also share stories, celebrate victories, advocate for acceptance and inclusion, and reunite with other MDSC families.

DSG of Kansas: January 26, 2019

This is a one day conference withl over 300 attendees. This conference is geared towards Educators, Speech-Language Pathologists and Parents. They will have around 15 sessions with a huge range of topics spanning the lifespan. This is a great event to learn, be inspired and connect with other families.

Why attend a Down Syndrome Conference?

Whether you attend a down syndrome conference for the latest expert advice on health, learning skills, and support or you enjoy making new friends that just get it, wrap the event up with a mini vacation and you’ve just created an amazing opportunity to learn and be inspired within the Down Syndrome community. These conferences are a great way to make memories and gain knowledge that will last a lifetime.

What Down Syndrome conferences have you attended? What did you love about the conference?

Delivering a Down Syndrome Diagnosis- A Physician’s perspective

Delivering the diagnosis is such a monumental responsibility, what is a physician’s perspective of delivering a Down Syndrome diagnosis?

10 ways I was ignorant about Down Syndrome

10 things I’ve Learned about Down Syndrome

What if you have a Down Syndrome baby

What if you have a Down Syndrome baby?

Related Post: What Does it feel like to find out your baby has Down Syndrome?

Related posts:

The day a stranger recognized my son’s Down Syndrome

Thankful for Down Syndrome (this one has pictures and video of lots of kids)

5 lies about Down Syndrome

3 Types of Down Syndrome

3 Types of Down Syndrome

Classic Trisomy 21

Translocation

Mosiac Down Syndrome

For more information about what a Down Syndrome Diagnosis means check out these related posts:

THE BEST DOWN SYNDROME BLOGS

Top Down Syndrome Conferences to Attend This Year

Down Syndrome Conferences

JULY 2018

NATIONAL DOWN SYNDROME CONGRESS

What’s the NDSC Annual Convention all about?

WDSC 2018

SEPTEMBER 2018

Why attend a Down Syndrome Conference?

Top Posts & Pages