Duke Down Syndrome Prenatal Diagnosis Study

October 22, 2013 in News

From the Duke University School of Medicine Down Syndrome Prenatal Diagnosis Study:

“If you or your partner recently received a prenatal diagnosis of Down syndrome (DS), you have an opportunity to share your story here. Kathryn B. Sheets, MS, CGC and Blythe G. Crissman, MS, CGC are genetic counselors at Duke University Medical Center in Durham, North Carolina who are conducting a study to better understand patients’ experiences with prenatal diagnosis and making decisions for the pregnancy. Participation will improve our knowledge and help us to provide appropriate information, resources, and support to individuals in similar situations. Sharing your journey could benefit other individuals or couples going through a similar experience in the future. Participation in this study involves completing an anonymous, web-based questionnaire, which is managed by a secure, Duke approved program called REDcap. You may also print a copy of the survey to take offline.”

Visit “About the Study” for patients to read more.

Grandparent Stories

October 2, 2013 in Friends and Family

We received top notch grandparent stories for our Grandparent’s Day contest and wanted to share three of those stories with you. It was nearly impossible to choose a winner among these beautiful stories because each of them is particularly meaningful in different ways — demonstrating love, sometimes sacrifice, commitment, vision, and determination. So, all of them are receiving a gift pack of books, and our first place winner, Stacey Hopper, is also receiving a strawberry gift basket from Mercier Orchards for the amazing grandparents in her life. Thanks again for all who participated!

From Stacy Hopper (Mom):

“I was 20 years old, married for less than a year and in another state, when we found out our firstborn was going to have Down syndrome. Obviously shocked and scared, I called my mom and told her the “bad news,” and she and my fathers responded, “Okay, so what’s the bad news?”

I kid you not! My family rallied around us and researched, joined groups, and called daily with encouragement and hopeful words.

My mom came out when Josephyne was born and stayed til she was 18 days old. Sadly she had to go back home before our girl came home, but she was with her everyday until she left!

When our baby was 5 weeks old, my husband was deployed to Iraq, and Joey Grace and I were all by ourselves. My family didn’t like that so my dad and two of my three brothers drove from Missouri to Coastal North Carolina to pack us up and bring us home while he was deployed. My dad had only seen her in pictures until they pulled up in front of my house … and when he saw her for the first time, it was amazing. A complete and utter love that knows no bounds and that is palpable to anyone around. Our girl is now 10, turning 11 in November, and her absolute best friends and biggest champions would be my amazing parents. Involved in every aspect of our lives, they always make sure love and time spent is equal among their 10 grandchildren but there is something between my daddy (Papa) and my girl (Joey Grace) that no one will ever understand: true and honest love that is never ending.

I come from an amazing and large family, and no one has ever treated her any different than they would any other child, and that is all due to my parents examples in our growing up and in their reaction to our amazingly genetically enhanced girl.

Low you Nana-Bean and Papa-Bean!”

Amy Allison, the Executive Director of the Down Syndrome Guild of Greater Kansas City, which is Stacy’s local Down syndrome organization, says:

In 2002 DSG received a phone call from a grandpa to be indicating his daughter was living in another state and was just informed she is carrying a baby with Down syndrome. Grandpa was concerned and anxious to get educated about the condition and the best ways he could support his daughter and granddaughter to be. I met with Grandpa within a few weeks of his call and provided him up-to-date accurate information to help him prepare. He called me a few months after his granddaughter was born to say that his son in-law was being deployed and he was concerned, so he was moving his daughter and granddaughter to Kansas City to provide help. As grandparents go, he was the biggest cheerleader and supporter I have seen. Always proud and always looking for ways to get engaged with the DSG. I wasn’t surprised at all when Stacy’s story was selected as a winner for the DSP contest!

From Christy Pate (Mom):
My kids have THE BEST grandparents!

When my loved one with Down syndrome was diagnosed with AML (leukemia), we had one week to get everything in order and spent most of the next 6 months in the hospital. Since he was so young and exclusively breastfeeding, we decided it would be best if I was with him the entire time. We were able to accomplish this because Grandma set her life on the table, and stepped right into mine. She basically moved into my house and ran my household which enabled me to stay at the hospital for 6 months and my husband to continue at work without any loss of time, pay, or vacation. My older kids did great because they didn’t have to become latch-key kids or feel neglected. She was even able to manage the complications of a high schooler and a homeschooler.

I could never have been away from my home, my family, my older kids, etc. without the reassurance my mom provided by being with them. I honestly don’t know what we would have done without Grandma! My dad was behind it and gave his full support saying, “where else would she be?”
From Vickie Wood (Grandma):
I have been a special education teacher for over 20 years. It is my calling, and I love what I do. I am also a very proud grandmother of 11 grandchildren whom I love with all my heart. That said, I have to ‘fess up’ that my precious granddaughter Darcie is always going to hold a little extra special piece of my heart. Darcie was born with the rare chromosome difference Mosaic Down Syndrome. She also arrived with congenital heart defects, and we recently found out that she is profoundly deaf. Darcie has already overcome many challenges including jaundice, open heart surgery, slow growth, and feeding and digestive difficulties, but she has proven herself to be a fighter as well as a precious sweetheart full of smiles and sunshine. Our family has been enriched by her presence in our lives, and she is already changing perceptions about people with different abilities in very positive ways. She is fiercely loved and deserves all the help, encouragement, and protection we can provide. My daughter and I will be signing up for a course to improve our skills in American Sign Language so we can teach Darcie to sign and help others learn to sign so they can communicate with her. I just know that she has a LOT of very important things to teach the world!

Happy Grandparent’s Day

September 6, 2013 in Friends and Family

This week we’re celebrating Grandparent’s Day by featuring the stories of those who have grandchildren with Down syndrome. When new and expectant parents learn that their baby has Down syndrome, grandparents are sometimes unsure about the best ways to offer support in the beginning. This is why we offer the booklet, “Your Loved One Is Expecting a Baby with Down Syndrome” to help grandparents and other friends and family understand Down syndrome better and know helpful things they can say and do. So, between September 6 and September 13, anyone who donates $15 or more to the Down Syndrome Pregnancy program will receive a free, signed copy of the printed book to keep or share with friends, family, or a doctor who might find it useful.

Once the news settles in, and especially after the baby is born, grandparents often become a tremendous source of strength and joy: helping with laundry during those newborn days, cheering loudly at baseball games, and eating mushy roast beef at the elementary school Thanksgiving lunch. Whether near or far, grandparents can be an important influence in the lives of children, so we want to celebrate them this week and hear your stories. So, anyone who emails us a photo or story or posts a story in the comments of this blog post by September 12 will be entered into a drawing for a gift basket with strawberry jelly, salsa, syrup, butter, and muffin mix from Mercier Orchards in the Blue Ridge Mountains. Your stories help other grandparents know how to support their children and how to enjoy those precious moments with their grandchildren.

And look here for a list of other great grandparent resources by columnist (and Lucy’s grandma), Beverly Beckham.

Below is a story from my own mom, Bernice Hall:

When I found out that my youngest daughter was expecting her first child, I was overjoyed. The day of Andy’s birth was eventful. I was overcome with joy. However, that joy was short-lived. We were told that he had swallowed meconium and would need to go into the newborn intensive care unit right away. It wasn’t long before we were told that the doctors suspected that Andy had Down syndrome. My first reaction was to deny that my 23-year-old could have a baby with Down syndrome because I thought that only happened to older women.

The genetic testing confirmed the doctor’s suspicion. At that point, I had to say goodbye to the baby that I thought we were having and welcome this precious little boy for the beauty of who he was. Embracing that reality came quickly and with much love.

One memory that will stay with me forever involved a riding lawn mower. When Andy was about three-years-old, my husband bought the mower. He couldn’t have purchased anything that Andy would have loved more. For a couple of years, he just rode with his Papa. Then, he was allowed to steer. Andy put more mileage on that machine just riding for fun than Papa did cutting grass.

During that time, we took him to an animal park. Our means of transportation around the park was a large tractor that pulled a flat bed covered with straw. Andy was so excited that the attendant allowed Andy to sit with him. At some point during the ride, he allowed Andy to steer. He was able to maneuver through an open gate without hitting anything. The smile on his sweet face was priceless.

Andy continues to amaze me with his computer skills and his photography talent. He patiently helps me with my computer. Best of all, I love when he puts he arms around my neck and gives me a kiss on the cheek and says, “You’re the greatest Mawmaw in the world.” Of course, the love that we share just grows stronger.

Positive support from friends, family, and health care professionals

August 26, 2013 in Comments, Friends and Family, Medical Provider, Support

Katie Ryder with her grandmother Lona Kewley

We would like to hear from both experienced and expecting parents about the wonderful support they have received from friends, family, and health care professionals. We spend a great deal of time helping parents cope with negative or stinging comments, mainly because we do not have built-in coping mechanisms for those unexpected events. Sometimes when in the stress of pregnancy post-diagnosis, a negative comment can send us reeling, and may actually drown out the many positive comments we hear.

However, there are extraordinary people out there. People who rise to the occasion and give a piece of themselves to give genuine, loving support. Focusing on their words and their actions, their support can help build our confidence and reinforce the knowledge that the world is a welcoming place for our children.

Sometimes that support comes from friends and loved ones who dive in to learn more about Down syndrome and the available resources so that they understand our children a little better and how to help them achieve their potential. Other times that support comes in the form of friends visiting the hospital and bringing blankets, stuffed animals, and candy to the Newborn Intensive Care Unit. That support can also include comments that welcome our children into the world, like the nurse who says “Congratulations! You’re baby is precious,” or comments that shape our understanding about disability, like a friend who shares, “My cousin has Down syndrome, and she’s an important part of our family. We love her.”

Please share in our comments the words, actions, or attitudes of those around you who gave the best of themselves and in turn helped you cope or look forward to a bright future. If you are on Facebook, you might also want to post your comment to your Facebook status and link to this blog post. Or post a thank you (sample linked below) in your Facebook status.

Booklet for Friends and Relatives: HERE
Sample thank you letter to the person you appreciate: HERE

(Note: We recognize that some things that bring comfort to some people may not help others because of the diversity of the personalities and beliefs of our expectant parents. For general guidelines, see our Relatives booklet linked above. Supporters should tailor their comments and support to match what they know about the personalities of the expectant parents.)

Online Communities for Pregnant Moms

August 15, 2013 in Support

Between online forums, Facebook, Pinterest, etc., there are many online resources to provide a sense of community and meet some of the unique needs of pregnant moms expecting a baby with Down syndrome. These interactive online communities can help expectant parents who might have questions about medical issues, sharing the news with friends and family, or who simply want to share the excitement over ultrasound and newborn photos of their little ones.

Nancy Iannone, Co-Author of Diagnosis to Delivery: A Pregnant Mother’s Guide to Down Syndrome says, “What we hear most often from pregnant moms is that one of the biggest issues is that feeling of isolation even when surrounded by friends and family … because there’s no one around you who has been through that experience of receiving a prenatal Down syndrome diagnosis. So, many parents find it helpful to get support from others who have been through a similar experience or who are going through the experience with them.”

There are a number of interactive communities, and some parents opt to pick one that meets their needs while others use all of them to be surrounded by support.

One of the most robust online forums for those receiving a prenatal diagnosis of Down syndrome is the Down Syndrome Pregnancy BabyCenter board. The board was created in 2006 and has almost 1300 members. The group “owners” are original DSP founders Nancy Iannone, Missy Skavlem, and Amy Geoffrey who are all moms who received a confirmed prenatal diagnosis or high chances with blood tests, and they are leaders in the Down syndrome community. They provide researched information and support for pregnant moms in response to specific topics and questions and also connect pregnant parents with other parents who have faced similar medical issues, who have similar beliefs or backgrounds, or who live in the same geographic areas.

Some of the advantages of this board include the significant experience of the board moderators, the ability for users to remain anonymous or just “observe” the public conversations, and the many resources BabyCenter offers all pregnant moms. However, the online conversations can be viewed publicly unless sent as a private message, and it can be more difficult to share photos.

Other BabyCenter boards include the following:

Some of the Facebook communities for pregnant moms expecting a baby with Down syndrome include the following:

  • T21 Pregnancy Support Group
  • Has over a hundred members and is run by Joelle Kelly, a mum from Australia who received a prenatal diagnosis. This group actively provides interactive support to pregnant moms continuing a pregnancy after learning about a prenatal diagnosis of Down syndrome.

  • Down Syndrome Pregnancy Group
  • Primarily offers information about current trends in prenatal testing, news about people with Down syndrome, and references to popular pregnancy blog posts from around the web.

The advantages of these groups are that they are private, it’s easy to share and view photos, and you can make friends with people who have revealed their identities. However, it might not suit the needs of those who prefer to receive anonymous support or who aren’t ready for groups related to Down syndrome to show up in their profiles.

Another online tool is the Sidelines National Support Network that provides “international support for women and their families experiencing complicated pregnancies and premature births.” The advantages of Sidelines are that it includes pregnant women with a diverse array of complicated pregnancies and offers many community forums; however, it is not specific to Down syndrome and does not have resources about Down syndrome.

Other options include discussion forums, Twitter accounts, and Facebook pages hosted by local groups. You can find your local Down syndrome organization with the Down Syndrome Affiliates in Action “Find an Affiliate” tool. The advantages of interactive communities sponsored by local groups are that you can get answers to local questions like recommendations for pediatricians or where to find the nearest playgroup. You can also usually remain anonymous when viewing the Facebook page or Twitter feed.

Other online communities where you can find Down Syndrome Pregnancy include Twitter and Pinterest. We usually post news articles, prenatal testing updates, and popular pregnancy blog posts on our Twitter feed, and our Pinterest boards include Baby Shower Ideas, Books We Love, Blogs We Love, Prenatal Testing, Prenatal Websites, Toys for Baby, Playing with Baby, Mom Style, Baby Style, and Great Websites.

What online communities have you found to be helpful? What does it mean to you to get support from other moms on a similar journey?

Breastfeeding

August 7, 2013 in Breastfeeding

Our Diagnosis to Delivery book has an entire chapter on breastfeeding which is a must read for any expectant mom who wishes to breastfeed her baby.  One suggestion for those who are preparing to breastfeed their newborn with Down syndrome is to consult with an occupational therapist or lactation specialists before or shortly after birth. What types of experts did you find to be particularly helpful, and what tips were most helpful to you?  Experienced moms, what was your experience?  Expectant moms, if you plan on breastfeeding, do you have questions, concerns, or a plan?

Children’s Hospital Boston also has a presentation, “Breastfeeding and Down Syndrome,” available for viewing which will help you if you wish to breastfeed your baby with Down syndrome. The presenter is Kimberly H. Barbas, BSN, RN, IBCLC, of the Lactation Support Program at Children’s Hospital Boston. She covers the benefits of breast milk, particularly for the baby with Down syndrome. She also covers tips for the delivery room, information about positioning (with helpful photos), pumping techniques to maximize caloric intake, monitoring weight gain, supplementation, and so much more. This presentation is a “must view” for any expectant mom planning on breast feeding.

What will baby need? (It’s a Baby Shower!)

July 31, 2013 in Friends and Family, Future

Katie Ryder with her grandmother Lona Kewley

Experienced moms, help our expectant parents with their baby registry! What items did you use during infancy that will be a big help for new parents of a baby with Down syndrome? Expectant moms, ask follow-up questions, or talk about the supplies you have already.

Lets get the list started with a few of our “must have” items:

Two products for congestion are an absolute must, the NoseFrida, otherwise known as the snot sucker (I know, it looks gross, but trust us), and saline mist.

And since research shows the benefits of sign language for our kids, put Signing Time videos on your list. The videos are fun, the songs are catchy, and your other kids will enjoy them too.

Finally, every parent of a child with Down syndrome should have a copy of Will Schermerhorn’s DVD “Down Syndrome – The First 18 Months.”  Check out Will’s website to order the film.

There are many items that can be specifically helpful for babies with Down syndrome, but experienced parents of infants with Down syndrome also emphasize that they need or want the same things any baby needs. So, please help us by sharing items you found particularly useful for a baby with Down syndrome and also those things you found generally helpful, wonderful, beautiful, or clever.

We have lots of great suggestions below and would love to hear more!

Full Circle of Moms

June 28, 2013 in Book

That moment when a parent finds out that their baby has Down syndrome is etched in their memory forever. For me, isolated images are razor sharp. What I remember is my baby being whisked away to the NICU after delivery; a doctor with curly hair rattling off the symptoms of Down syndrome … something about a crease in the palm, folds in his eyes, and extra space between his toes; my 23-year-old husband crying for the first time since his mom died; and a gentle woman bringing me a book and photos of her son with Down syndrome the next morning.

When we launched the Sevenly campaign on Monday, I shared that the original inspiration for the Lettercase books was the parent support coordinator at the hospital who showed me a picture of her son on a bike. What I didn’t share was that Nancy’s son passed away from leukemia when he was 15. Josh was an anchor for his parents and brothers and sisters, and he was the inspiration for me on the day after my son was born with Down syndrome. He was funny, adventurous, loving, outgoing, impish, compassionate, and perceptive, and his death left a hole in their family.

On Monday afternoon, Nancy called me to say that her daughter was pregnant and just found out from an ultrasound that the baby has soft markers for Down syndrome. Despite the pain of losing Josh, they were thrilled at the prospect of having another baby with Down syndrome in their family. But, she wanted to make sure her daughter was prepared, just in case, so she asked if I could send her a copy of the the Lettercase “Understanding a Down Syndrome Diagnosis” book and Down Syndrome Pregnancy’s “Diagnosis to Delivery: A Pregnant Mother’s Guide to Down Syndrome.”

Thirteen years ago, Nancy shared a vision of the future with me by giving me a book and a photo. She and Josh inspired me to do the same for other expectant parents with our books, and now I have the opportunity to support her daughter. This is the full circle of moms, and it’s just one of the legacies of Josh Boldt.

It’s true that sometimes life with Down syndrome can be downright hard. Almost all of us grow emotional callouses: the first time we see our friend’s baby take their first step before our child; the first time we have to look a teacher hard in the eye at an IEP meeting and tell her our child will be included in a regular classroom and that it can be done; and the first or fiftieth time we hear someone casually toss around the word “retarded.” For a small minority, like Nancy, they cope with health challenges that can be all-consuming.

And yet, 99% of parents say they love their children with Down syndrome, and Nancy and her daughter were excited to find out that the baby has soft markers for Down syndrome — even after battling leukemia for years with Josh.

The thing is that, most of the time, life with Down syndrome is remarkably ordinary and includes family vacations, sibling squabbles, outings with friends, and school activities, with a few extra doses of therapy, annual IEP meetings, health insurance battles, and medical appointments thrown into the mix.

What I’ve learned is that people with Down syndrome are unique individuals with their own strengths and challenges, and this has given me a greater appreciation for the individuality of all people. My son truly struggles with reading and math, but he’s an amazing photographer, an avid mountain biker, and tech wiz like his dad. I’ve also learned that people need information and support right away in a moment of crisis, and the compassion of others can change our lives in profound ways. For that, I’m grateful for the extraordinary full circle of moms, especially Nancy and Josh.

Moms Make a Difference!

June 10, 2013 in Blog, Book

We’re so excited to share that we reached our fundraising goal so that we can send copies of “Diagnosis to Delivery: A Pregnant Mother’s Guide to Down Syndrome” to all prenatal genetic counselors nationwide in July! We are so thrilled that one family who used both Lettercase and Down Syndrome Pregnancy launched this campaign, and we appreciate all of you who joined in this effort with your stories and your donations to make this happen. We’re also grateful to the National Society of Genetic Counselors for their support in providing us with the contact information for the genetic counselors, and we appreciate Woodbine House as they print our books! We’ll keep you posted via Facebook and Twitter and share photos of our mountain of books as we prepare for shipping.

The Power of Moms

May 28, 2013 in Book, Diagnosis, Resources

Since May 1, we have raised $8100 towards our goal of earning $10,000 to provide “Diagnosis to Delivery: A Pregnant Mother’s Guide to Down Syndrome,” to prenatal genetic counselors nationwide. This Mother’s Day campaign was launched with a $5000 contribution from a donor who wasn’t a large organization, a corporation, or a famous philanthropist. This donor was a mom and dad who received the Lettercase book from the geneticist after their baby was diagnosed with Down syndrome and who used “Diagnosis to Delivery” and the Baby Center board throughout the pregnancy. This mom is the same mom who said these resources were her lifelines during her pregnancy that gave her hope and that she wished every prenatal genetic counselor also had a copy of “Diagnosis to Delivery” to give their patients.

This is also a mom I was able to meet in person in the Newborn Intensive Care Unit just days after her son’s AV repair a couple of months ago. I was able to hug her and rub the head of her sweetly resting boy with the tubes still attached to his resilient body. Her son is regaining his strength after surgery and so has his mom as she put into action this effort to help other families.

Since that first donation, other moms and dads have joined us in this campaign … and shared their stories with us along the way. Some of them had a wonderful experience upon receiving a prenatal diagnosis and were given support and information immediately from a compassionate healthcare provider. They want to make sure other families get the same. Others received little to no information and felt abandoned and alone. They want to make sure no other mom or dad ever feels that way.

This is the power of moms: to move past the initial shock and grief of receiving a prenatal diagnosis of Down syndrome and launch efforts to support others. To give support, compassion, understanding … and then hope for a beautiful future.

So, our mom who provided the initial funding has once again generously offered in this last week of the campaign to match donations until we reach our goal on Friday, May 31. Please join us helping her to give a lifeline today.

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