A chat with DSDN- Down Syndrome Diagnosis Network Vice President- Jen Jacob

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I remember well that when Google and I became fast friends.  It was the moment that I was alone after hearing “Down Syndrome” from our pediatrician.  One of the top sites that popped up was the DSDN, Down Syndrome Diagnosis Network.  I paused, did some reading and then a little while later, I reached out to the new parent support.  It was then that I had my first contact with Jen Jacob.  She is one of the forces behind the DSDN and she works tirelessly to advocate and connect parents who learn of a Down Syndrome diagnosis by connecting them with support from the prenatal through preschool years.

I have spoken with this wonderful mama on several occasions, I purchased her book The Parent’s Guide to Down Syndrome: Advice, Information, Inspiration, and Support for Raising Your Child from Diagnosis through Adulthoodand shared some of my “touring Holland” jewelry with her.  However, I wanted to know her story, her why behind working so hard to help change the diagnosis experience for moms.

I know she has a son with Down Syndrome, but what spurned her to be not only his advocate, but the advocate for so many other families worldwide?  I asked her a few questions and she was gracious enough to take time from her exceedingly busy schedule to answer them.

Tell me a bit about your story Jen…

I was 34 when I found out we were expecting our fourth child.  At my anatomy scan, the ultrasound tech spent a lot of time looking at the baby’s profile and I couldn’t understand why. When I met with the doctor afterward, he explained that these were “difficult ultrasounds” to discuss and my heart sank.  He went on to tell me that the tech couldn’t find a nasal bone and that could be a soft marker for conditions like Down syndrome. He gave me several options to discuss with my husband, including meeting with a perinatologist to have a level two scan. 

After talking with my husband, I made an appointment with the specialist. During the level two ultrasound, they again noted an absent nasal bone and also a dilated kidney. As the doctor described it, neither of these alone would be concerning, but together (in addition to my almost turning 35) could be indicators for Down syndrome.  I was given several options: no further testing, an amniocentesis or a new blood test (cell free DNA) to know more. I decided to do the new test and they took blood that day. 

8 days later the genetic counselor called to tell me the test results were positive; my son had Down syndrome.   (Side note- knowing what I know now, this test was actually a screening, NOT a definitive test.  We moved forward with our medical team as if Ds was confirmed. In actuality, we had a high likelihood of a Ds diagnosis, but it wouldn’t be confirmed until after birth when blood was taken for testing and a karotype to confirm). 

When I heard the words “Down syndrome” from my doctor, I was so sad and scared. I had no idea what this really meant for my child. I was most worried about all of the social implications of having a child with Ds. I cried as I shared the news with my husband. He was such a rock for me and reminded me that we would be just fine and meet our newest little guy and provide him with what he needed just like our older kids. After some time of feeling sorry for myself, I knew he was right and that we would all be just fine. During the 8 day wait for results, I googled and searched so much and struggled with finding real information- it all seemed to be too wonderful or too awful. I really ached for a real story, one that told the good with the bad. I found some great reads, including one of my favorites A Good and Perfect Gift: Faith, Expectations, and a Little Girl Named Penny. Once I met moms online, like my good friend Joelle, I knew we would be ok.

I did not know anyone with Ds before having Owen. My only experience was watching the show Life Goes On. 

How was your experience with your diagnosis?

In hindsight, my doctor who first suspected Down syndrome did an ok job. He knew my values and beliefs and encouraged me to do more testing if I wanted. The perinatologist presented testing/non-testing options.  The genetic counselor, who delivered the diagnosis after the blood test offered a meeting and gave us information on Ds and local resources. 

Knowing what I know now, my team did a fairly decent job. The piece that could use the most work is in the description of the new test that I was taking. It was presented as an alternative to the amnio, which it is, but it was also presented as a diagnostic test, rather than a screening test. By both the perinatologist, the genetic counselor and the testing company, the results were relayed as “positive” for Down syndrome.  I now know so much better; the NIPTs tests are screens, not the final answer in prenatal testing. While much more accurate than the traditional quad screen, they are still a screen.  

How far into your walk with Down Syndrome did you start to assume an advocate role?

I’m not sure when I started defining myself as an advocate. I think I always have felt my job as a parent was advocating for my kids, regardless of their chromosome count. I started the first Rockin’ mom Facebook group for ’12/13 moms when Owen was a few weeks old. 

Tell us how the first ebook and subsequent paperback came about. What led you to start DSDN and did this become your full-time passion?

My journey to today began when Owen was about 6 weeks old.  I started noticing several little things that were not like what I experienced with my three older kids. I had been on the Babycenter Down syndrome birth boards throughout my pregnancy, so I asked there if any other new moms wanted to join me in a private Facebook group. Within a few weeks, we had about 150 moms from all over the world that had babies with Ds in 2012-2013. In that group, we shared celebrations and tears, questions and fears.  

The first book, Unexpected, came about when we noticed in our group discussions how many of us had different diagnosis experiences. Some were very positive. Others were not. It made us all feel much better to hear what each of us have experienced and how we felt about our diagnosis based on that experience. For many of us those words really set us on path. Some positive, others not. But we all felt like there was lots of power in those words from the doctor or medical professional delivering the diagnosis. It became really important to us to make sure other families knew that they weren’t the only ones feeling that way when they received their diagnosis. Whether that emotion was sad, terrified or happy… It was all OK and other people had felt that way too. We really wanted a book to be available immediately for families to read after getting word of the diagnosis. So we asked families to write about their diagnosis experience in their words and compiled that together and it became Unexpected: stories of a Down syndrome diagnosis. Unexpected: Stories of a Down Syndrome Diagnosis The book is housed online at missionT21.com.

DSDN really came to light while we were working on the book. I had started a few more groups for moms and it was becoming so clear how important resources aimed at brand new parents were. Heather Bradley, one of the moms from the first ’12/13 Rockin mom groups approached me about creating a nonprofit that would support new families and make a positive difference in the way that the diagnosis experience was delivered to families. I was in. In mid 2013 we got the 501c(3) filing paperwork sent in, added another board member, formed an advisory team of amazing women from around the world and got to work. We officially launched Down Syndrome Diagnosis Network (DSDN) on March 21, 2014- World  Down Syndrome Day.  Today we have a board of 8 members, nearly 75 volunteers and serve almost 4000 families, about 15% of those with a new diagnosis each year. 

The second book came about in an unusual way. I’ve always wanted to write but didn’t really have a vision for a book. About two years into our work,  I was contacted by a publisher. They were looking for a book about Down syndrome that would share from a parent’s point of view but also get lots of resources and information to new families. A national bookstore had requested to start carrying the book, so the timeline was very tight on this project. I was able to bring on Mardra Sikora, a co-author to address the issues of schooling and adulthood. With lots of parents’ stories and experiences, we got the manuscript written in one months time. The Parent’s Guide To Down Syndrome was published for release in January 2016 and has sold thousands of copies worldwide. 

Can you share some stories of how your activism has helped other moms? (Has anyone shared that they decided to continue a pregnancy instead of halt it)

There are countless comments and stories in the birth club groups  each week about how helpful the groups have been in helping families come to terms with that diagnosis and start moving forward with their child. It is especially meaningful to me when the parents are in an area without lots of resources and supports because we can be the support lifeline that families need, especially in the early days.  Our pregnancy board, started by my Aussie friend Joelle Kelly, also holds a special place for me because that space is so needed. Having a place to vent, cry, share, celebrate with other expectant moms riding a similar roller coaster is more valuable than anything else.  We have had stories from moms that have been undecided about moving forward with the pregnancy, but choose to continue because of the support and connections we have fostered for their family. 

One of the incredible ways I love that we help parents is to empower them to advocate for members of the Ds community. We often hear that because of the supports and resources that we offer in our groups, families are able to feel more confident and that leads them to doing work locally and supporting Ds awareness and advocacy around the world.  

Another huge way we have supported new families is in encouraging them to advocate with medical professionals for their child’s care. One of our current board members, Jenny DiBenedetto, had a long journey with her son Luca as he faced Infantile Spasms. Because another mom encouraged her to get testing when she shared about the possible seizures, she was able to quickly seek out treatment for her son. We have had many new moms experience the onset of infantile spasms without much support from their medical team. Because we have had so many moms experience this now, we are able to offer resources and encouragement so that families are better able to help their child get appropriate medical care. This is especially wonderful  because our kids can be at a heightened risk for IS and few doctors see cases of it and/or understand the connections between IS and Ds. Prompt treatment is key with this condition, so time is really of the essence when a parent sees the seizures occurring. Because we have a large network with lots of resources on IS, we are able to support families and make a big difference in this area. 

What services does DSDN offer to new families (moms)?

Our primary offerings for parents of children under four include private, moderated online pregnancy and birth club boards. Once moms and dads are a member of our birth club groups, they have access to nearly 20 subgroups with information and resources on more specific topics (like heart conditions, hearing loss, raising an only child, single parenting and more).  We are also working to complete a project that will allow for greater access to connecting locally with families slated to be completed early next year. 

Our annual event, the DSDN Rockin’ Mom Retreat happens each fall in a new location in the US. It offers moms in our groups a time and space to gather to get connected, be inspired and recharge. This year we reached capacity in record time and doubled in size. We are planning for an even bigger event in 2018!

The DSDN Rockin’ Family Fund is an amazing resource that enables us to send welcome gifts to congratulate new families, care gift cards when a family faces a hospitalization or hardship, scholarships to attend events to learn and connect and memorial windchimes after the loss of a child. 

What is your vision going forward with DSDN?

Moving forward, we hope to continue to support thousands of families around the world as the enter the Ds community and navigate the first years alongside their child.  We are also making great strides in our work to help shape the diagnosis experience for families in a way that medical professionals offer current, accurate information and resources about Down syndrome. 

Do you also blog or have a website, tell us about it.

Sure! I have not kept up my blog since I have been keeping up with my four kids instead! I do have a website with info about all of the projects above, including DSDN and the books. In the future, I also plan to be available for speaking events (so stay tuned!)  

Jen is the co-author of “The Parent’s Guide to Down Syndrome: Advice, Information, Inspiration, and Support for Raising Your Child from Diagnosis through Adulthood” and the author and a contributor for “Unexpected, Stories of a Down syndrome diagnosis” (www.missiont21.com). A former educator and professional development leader, she lives in the midwest with her husband and four children; her youngest son, Owen, has Down syndrome. Jen is also the co-founder, Executive Director and Vice President for the Down Syndrome Diagnosis Network (www.dsdiagnosisnetwork.org). As a part of her role, she creates, moderates and manages private, online groups for thousands of new and expectant parents.