T18 Awareness Day 2017

It's Trisomy 18 Awareness Day! March is Trisomy Awareness Month and 3/18 - for 3 copies of chromosome 18 - is  for Trisomy 18 Awareness. In addition to the posts  "18 Things You Should Know about Trisomy 18" and "Why Trisomy Awareness Matters" from the last two T18 Awareness Days, this year I wanted to add ways to support families you may know or meet who are living with trisomy 18. 

3 Ways to Support Families Living with Trisomy 18:

1. Reach out. Check in. Call. Text. Visit (except during cold and flu season 😷). Caring for a loved one with a medically fragile condition such as trisomy 18 can be stressful and isolating.  Encouraging words and gestures are very appreciated.

2. Donate to organizations that support the trisomy 18 community such as SOFT (www.trisomy.org). SOFT is a tremendous resource for information about trisomy 18 and what to expect when caring for a child with trisomy 18. SOFT hosts an annual conference for families affected by trisomy which is the largest rare trisomy gathering worldwide. My family attended the conference in 2014, and we were fortunate to meet with families from this supportive community in person after having met online. We look forward to attending again in the future.

3. Support funding for Medicaid and oppose legislation that cuts Medicaid. Medicaid provides primary or secondary healthcare for people with disabilities, including trisomy 18. Cuts to Medicaid hurt many individuals and families, especially those with disabilities and medically fragile conditions.

Thank you for learning more about and supporting the T18 community!

MCM 2013: Team Julia

Marc and our friend, Josh, completed this year's Marine Corp Marathon! They ran in Julia's memory as part of Team Trisomy 18. It was a beautiful day--perfect for running the race (I'm told) and perfect for watching the race. The kids and I made signs and took the metro downtown to mile 18 to see Marc and Josh. Seeing the constant stream of runners along the Potomac River or running through the National Mall was really amazing. Thanks to modern technology, we were able to track Marc and know when he would be coming our way. We were all so excited to see them and to see that things were going so well! We are very proud of Marc (and Josh) for running for Julia! And we are thankful to so many who contributed to Team Trisomy 18! Team Julia raised $3,415 (well beyond our $2000 goal!), and the combined 11 members of Team Trisomy 18 raised over $20,000!

New Trisomy 13/18 Article

A new article about families of children with Trisomy 13 and 18 was published today in the medical journal Pediatrics. A huge thank you to Trisomy advocate and fellow Trisomy mom, Barb Farlow, for her years of hard work in bringing together Trisomy families and some compassionate members of the medical community to produce this research.
The news release from the University of Montreal: http://www.nouvelles.umontreal.ca/udem-news/news/20120723-children-with-trisomy-13-and-18-and-their-families-are-happy.html
Journal Abstract: http://pediatrics.aappublications.org/content/early/2012/07/18/peds.2012-0151.abstract
A blog post written by a well-known neonatologist regarding this article: http://neonatalresearch.org/2012/07/23/our-children-are-not-a-diagnosis-the-family-experience-of-trisomy-13-and-18/#comments

The Implications of Her Smile

In last week's Time magazine, Joe Klein wrote an interesting piece about Rick Santorum entitled "Rick Santorum's Inconvenient Truths." I usually enjoy articles written by Joe Klein and appreciate his perspective on a variety of political topics. He is not a conservative columnist and usually supports more moderate or liberal candidates. In this article, though, Mr. Klein says there is "something admirable about Santorum's near Tourettic insistence on bringing up issues no one wants to talk about." One of the issues that Mr. Klein discusses is Mr. Santorum's position on prenatal testing and his opinion that this leads to more abortions. Rick Santorum's daughter, Bella, who is three years old and has trisomy 18, has become the face of his stance on prenatal testing and abortion. According to Santorum (and the experience of my fellow trisomy parents), nearly 100% of babies prenatally diagnosed with trisomy 18 are encouraged to be aborted.

Prenatal testing is an important issue and carries more consequences than we are sometimes aware.  I do not personally oppose prenatal testing, but rather the lack of information and support given to women and families who receive a prenatal diagnosis. Parents who are already enduring the grief of having a child with this diagnosis are then faced with having to battle the medical community because of having a prenatal diagnosis.  After receiving a prenatal diagnosis as difficult and devastating as trisomy 18 and deciding to continue the pregnancy, many parents are denied medical interventions such as an echocardiogram to evaluate the baby's heart, a c-section to decrease stress on the baby, and resuscitation at birth since the child statistically is not expected to survive for very long.   Because we did not have a prenatal diagnosis of trisomy 18 with Julia, I was given a c-section (best for her compromised heart) and she was given respiratory support (she was on bi-pap for about 6 hours until she could breathe on her own). She was evaluated and placed in the NICU for observation.  Her heart and kidneys were evaluated. I do not know what our experience would have been like at our particular hospital if we had known before birth. However, I know many parents who have had to take on hospitals and fight for support. Some parents with a prenatal diagnosis have been able to meet ahead of time with NICU staff to find out their approach to babies with trisomy 18 and if they met resistance they had time to find another hospital. So, yes, prenatal testing is a big deal, or rather the knowledge than comes along with prenatal testing is a big -- a very big -- deal.

Although I am not a supporter of Rick Santorum for president, I am thankful for the debates being raised on behalf of his daughter Bella and all children with trisomy 18. And as Mr. Klein so eloquently states...

"I am haunted by the smiling photos I’ve seen of Isabella with her father and mother, brothers and sisters. No doubt she struggles through many of her days–she nearly died a few weeks ago–but she has also been granted three years of unconditional love and the ability to smile and bring joy. Her tenuous survival has given her family a deeper sense of how precious even the frailest of lives are.

All right, I can hear you saying, the Santorum family’s course may be admirable, but shouldn’t we have the right to make our own choices? Yes, I suppose. But I also worry that we’ve become too averse to personal inconvenience as a society–that we’re less rigorous parents than we should be, that we’ve farmed out our responsibilities, especially for the disabled, to the state–and I’m grateful to Santorum for forcing on me the discomfort of having to think about the moral implications of his daughter’s smile."

I Heart...Forever

Trisomy 18 Awareness

Trisomy 18 has been in the news a lot lately because of a special 3 year old little girl named Bella who has Trisomy 18. Bella happens to be the daughter of Presidential candidate Rick Santorum. Bella was admitted to a local hospital over the weekend for pneumonia, which caused Mr. Santorum to cancel some of his campaign appearances. Bella is doing much better today and her dad is campaigning again. News organizations have been featuring stories about Bella and Trisomy 18. This is a tremendous opportunity to raise awareness for Trisomy 18 and to give good information about what this chromosomal disorder is and is not. We in the Trisomy community are interested in having the public know that
1. Our children are children first...children who have a condition known as Trisomy 18.
2. Children with Trisomy 18 can live for months and years. Their life expectancy cannot be predicted at birth.
3. Children with Trisomy 18 do not live lives full of suffering. The idea that these children suffer is commonly cited by neonatologists and obstetricians although it this is not supported by medical literature or anecdotal experiences from the MANY Trisomy families out there.
4. Children with Trisomy 18 can indeed have a good quality of life.

For more information please see the following links:

http://www.trisomy18.org/site/PageServer?pagename=whatisT18_whatis

http://www.trisomyhelp.org/WHAT-IS-TRISOMY-.html


To view some of the current news coverage centering on Bella Santorum and/or Trisomy 18 see the following links:

http://www.thedailybeast.com/articles/2012/01/31/feeding-tubes-nicu-one-on-one-care-susan-hatfield-talks-about-living-with-his-trisomy18-baby.html -- this article was written by the mom of a 5 year old boy with T18.

http://bostonglobe.com/lifestyle/health-wellness/2012/02/01/bella-santorum-and-trisomy-care-has-shifted-for-genetic-disorder/k5ZH7Zxoi0q5hkJRsphs6M/story.html

http://www.pbs.org/newshour/rundown/2012/02/santorums-daughter-recovering-nicely-but-from-what.html

http://www.cbsnews.com/8301-504763_162-57368121-10391704/trisomy-18-in-spotlight-after-rick-santorums-daughter-bella-hospitalized/?tag=mncol;lst;1

http://abcnews.go.com/blogs/health/2012/01/29/what-is-trisomy-18/

http://www.washingtonpost.com/blogs/the-checkup/post/bella-santorum-has-trisomy-18-what-is-that/2010/12/20/gIQAxrOVcQ_blog.html

http://www.huffingtonpost.com/2012/01/30/trisomy-18-bella-santorum_n_1241671.html


To learn more about children with trisomy 18 and their families see the links under "My Blog List."

Reaching Out

We are not alone. There are many other families living with trisomy 18 scattered around the country but until recently we had little to no contact with any of these families. I finally found the blog of a mom with a 2 year old precious girl with t18 and an older and younger child. I emailed this mom and we began communicating. She has been very patient in answering my questions and helping me to see things in a better light. She also "introduced" me to some other t18 moms who then led me to some online support groups. These groups have been an amazing source of information and encouragement so far. I can't believe it took so long to find them! While on one of the boards one day I found a mom who also lives in Virginia and has an ELEVEN YEAR OLD daughter with t18! This family lives a few hours away but happened to be in our area for a sports tournament this weekend. I immediately invited them over for a visit and they were gracious in coming. Their youngest daughter was not with them but we were thrilled to meet this strong mom and her 2 great teenagers. They shared their story and it is definitely one with a lot of hope, joy, and love in addition to the challenges. The dedication and strength I have found in these fellow t18 moms is infectious, if that's possible. I am still overwhelmed much of the time with all of the what ifs and challenges ahead, but we are not alone.