Laura Crandall was suddenly and unexpectedly confronted with the death of her healthy toddler after a nap. She has bravely turned her loss into the greatest gain for this rare disorder, which before she emerged on the scene did not have a name.
Laura is at the forefront of advancing awareness and understanding of Sudden Unexplained Death in Childhood (SUDC). She leads the SUDC Foundation and has created the largest international support program for parents and a registry of clinical and pathological data to help understand its causes.
“Everyone knows about SIDS. We are a smaller group of parents that fall through the cracks,” she says.
On what would have been her daughter, Maria’s, third birthday, Laura called New Jersey then Governor Christie Todd Whitman and initiated work on a bill that established protocols for deaths in babies and children up to age 3.
Over the years, Laura has participated with the National Institutes of Health, National Institutes of Justice and National Association of Medical Examiners, testified to Congress, and helped introduce legislation at state and federal levels to support these families and help prevent more deaths of these young children.
On December 18, 2014, Laura joined President Barack Obama in the Oval Office as he signed the Sudden Unexpected Death Data Enhancement and Awareness Act (H.R. 669). Because of Laura, SUDC is now recognized by the federal government.
“Courage is not doing what you think is amazing, it is doing things in spite of the fact that they scare you,” says Laura.
NORD is honored to tell Laura’s story as part of the 2015 Portraits of Courage celebration.
At just 13 years old, Emily Argersinger decided to climb the highest peak in the northeast, Mount Washington. She did this to raise awareness of Sturge-Weber Syndrome – for herself, and for every other patient with this rare disease.
Mt. Washington is famous for its dangerously erratic weather. Emily had never been on a major hike. However, once she came up with the idea, she never looked back.
Emily was born with a port-wine stain birthmark. Because of its location, her parents sought an MRI, which confirmed she had Sturge-Weber Syndrome. This is a rare disorder characterized by a facial birthmark with possible neurological and vision abnormalities. Severity can vary dramatically from one person to another.
Emily has had minimal medical complications. She considers herself fortunate, and with generosity and a big heart she pushes herself to help others who have more severe symptoms.
During her first climb up the 6,288-foot high mountain in 2011, she raised more than $3,500 for the Sturge-Weber Foundation and carried a banner to raise awareness.
“It was one of the best experiences of my life and even though it was hard, every step I took was for a good cause,” she says.
For her next climb, she wants to make an even larger impact and raise one dollar for each foot she climbs.
Emily is an example of having the courage to try something new, and for looking beyond her own experience to make a positive impact on others.
NORD is honored to tell Emily’s story as part of the 2015 Portraits of Courage celebration.
Today, NORD is joining the Everylife Foundation, Genetic Alliance, Global Genes, and the rare disease community in voicing our support for the OPEN Act (H.R.971), and requesting its inclusion within the 21st Century Cures Act.
On today’s day of action, we are asking you to call your Congresspeople, and ask them to support the OPEN Act, and to ask them to tell the Energy and Commerce Committee that they should include this important legislation in the 21st Century Cures Act.
Here is a sample script for your message:
Hello, my name is XXXX. I’m calling to urge you to support the OPEN ACT, HR 971, and to ask you to urge your colleagues in the Energy and Commerce Committee include it in the 21st Century Cures Act.
The OPEN Act could drastically increase the number of rare disease therapies, and could solve many of the off-label reimbursement problems that many rare disease patients face.
[please explain why the legislation is important to you as a patient]
Thank you for your time and consideration.
To call your Congressperson, call the Capitol Switchboard at: (202) 224-3121.
Together we are strong!
Below is an exchange between the dedicated Executive Director of CFC International, Brenda Conger and a mom, Tina, who has a son with Cardio-Facio-Cutaneous Syndrome (CFC). Thanks to Brenda Conger for sending the following exchange:
Written by, Brenda Conger, Executive Director of CFC International:
I often have a difficult time finding the right words to write my newsletter section titled “Message From The President”. Last night I was inspired to write an article after meeting a very special family. I am still in total shock over what has transpired in the last 24 hours. As I go through my day with my family on Mother’s Day I have found such joy in my heart and decided to share this remarkable experience with all of you who have also shared my journey in CFC land. This story has inspired me again to share why I do what I do to assist all the CFC families around the world. Happy Mother’s Day to Tina, and all our other special mothers who care for or have lost CFC children. You all have a special place in my heart.
Yesterday morning I received an e-mail from a woman named Tina who lives in our hometown of Vestal New York. She stated in her e-mail that she had been to a geneticist in another region of New York State and they still had not received a diagnosis for any syndrome. Her 13-month-old son Owen had so many of the classic symptoms that point in the direction of CFC syndrome. Cliff and I remember how hard those first three years were with our own son without a diagnosis.
I immediately called Tina after seeing pictures of her son attached to the e-mail message below. We invited them over for dinner that evening and with Tina’s permission contacted our CFC medical advisory staff from around the world sharing her e-mail and photos of Owen. By dinnertime, I had received many confirmation messages that this child indeed should be tested for the panel of genes that encompassed CFC and Noonan syndrome. Some of the doctors felt he is indeed CFC.
The minute Tina and her husband Brent came to our door with their three children, I took one look at sweet Owen and felt like I was looking at a mirror image of our Cliffy when he was a young little guy. We shared Clifford’s baby album with the parents and the look on their faces was shocking. They too felt like they were looking at clone pictures.
We now have a plan in place thanks to CFC International board member, Luba Djurdjinovic, a local genetic counselor and Program Director at Ferre Institute in Binghamton NY. Owen will move forward with genetic testing later this month. After genetic testing is done I will work with Tina on setting up a cardiology appointment for Owen and also hooking them up to local services to enroll in the New York State Medicaid Waiver program. Father Brent has already started looking at flight prices to get the family to the Orlando CFC conference this summer.
The odds of having a CFC baby born in the world today are currently listed in the first journal statistics as one out of every 810,000. So what are the odds of having a neighbor who lives only 1.1 miles from your own home having a CFC baby as well? All I can say is that God works in mysterious ways and brings people into our lives for a reason. I swore when we had our child we would pull together resources to create an international organization that would never let any parent walk this difficult road alone. Tina and I only have a mile walk to each other’s house! I knew that my new knee would help be achieve better health and now I have a reason to keep walking.
May 11, 2013- Hello Brenda,
I hope you don’t mind my contacting you out of the blue like this. My name is Tina and I, too, live in Vestal, NY. My son Owen is 13 months old and has had many health concerns in his little lifetime. I stumbled across your CFC website while researching his symptoms. (Imagine my surprise when I realized we live in the same town!) Until I started to learn about Noonan’s, CFC and the other related conditions, I had never seen anything that could begin to account for the symptoms he has. We have been to specialists throughout upstate NY, including a geneticist in Syracuse. He is inclined to rule out Noonan and CFC because Owen is not short in stature. And while I am far from knowledgeable about genetic disorders, I can’t help but feel that we need to get a second opinion. I was hoping you might be able to share some information with me about your son’s diagnosis and where we might stand the best chance to get a definitive answer.
I have attached a couple pictures of my Owen so you might be able to understand why I am pursuing this avenue even though our geneticist dismissed it. In addition to having facial characteristics associated with these disorders, he also has sparse hair and no eyebrows, strabismus (which he just had surgery for last week), undescended testicles, developmental and feeding delays, some minor kidney issues, terribly dry scaly skin, and some other small abnormalities. I also had unexplained polyhydramnios during pregnancy. I know these symptoms don’t put him perfectly into either the CFC or Noonan category, but that is why I am hoping we can find a specialist who is more familiar with these syndromes so I can feel a little more confident in the answers we are getting.
If there is a particular doctor, a program, or a children’s hospital that you would recommend, I would really appreciate the information. It doesn’t matter if they are local or if we would have to travel. I’m sure I don’t need to explain the frustration we are feeling just trying to put a name to whatever it is we are dealing with, so we can make sure Owen is getting everything he needs. It is so encouraging to read about your successes with your son, as well as the other family stories on your website. No matter what Owen’s results end up being, I’m very grateful for everything I’ve learned from your organization’s website and the other informative sites and groups I’ve come across. I hope you don’t mind my reaching out like this, but I think having the perspective of a local parent who has been through this before would be so helpful as we try to figure out where to go from here. And coincidentally, my husband used to ski and has been in your husband’s store many times in his younger days! Thank you so much for reading my story, and thank you in advance for any advice you can send our way.
As part of NORD’s celebration of moms this Mother’s Day (#myraremomstory), we are honored to tell the story of these two rare moms, Brenda and Tina, who are fighting CFC together.
To make a donation in honor of a mom in your life this Mother’s Day, please visit our Donate page.
Today is CdLS Awareness Day. Cornelia de Lange Syndrome (CdLS) is a genetic disorder present from birth, but not always diagnosed at birth. It causes a range of physical, cognitive and medical challenges and affects both genders equally (cdlsusa.org). Today’s awareness day for CdLS is to shed a light on the often misdiagnosed and unheard of syndrome.
Here at NORD, to spread awareness, we would like to spotlight our volunteer Norman (we call him Norm here) Winnerman, whose grand-daughter, Alison, passed away from the syndrome in 1994.
Norm’s family was very fortunate to get a correct diagnosis within a couple of days of Alison’s birth in 1989. When Alison was transferred to a top hospital in Providence, RI, “A very knowledgeable geneticist was able to see her symptoms and diagnose her right away,” he explained. From then on the family knew that they were going to have a rough road ahead. Norm immediately got started researching ways to help Alison and learn more about CdLS.
Norm was aware of NORD and called the office to learn more about CdLS. He was referred to the CdLS Foundation, Inc., one of NORD’s member organizations that specializes in the rare disease. He then called the foundation and was given an abundance of helpful information by one of the founders and Executive Director, Julie Mairano.
When Alison was old enough to withstand the journey to a family gathering, Norm, Alison, and the whole family drove to Maine for their first family meeting. “It was great to meet other parents and children of all different ages living with CdLS. We noticed the similarities in our children and connected with the other families.”
At that patient meeting in 1991, Norm was asked by Julie Mairano to work with others to help organize a national conference that was going to be held in Boston in 1992. It would serve as a way to assist the patients with doctor consultations, give them more knowledge of the disease and create awareness. The committee, chaired by Peter and Kathy Wagner, successfully hosted their first conference in Boston where patients received free consultations with doctors and met families from all over the country.
Retiring in 1992, Norm was asked to serve as Conference Chair and served almost 18 years in that capacity. Norm continues his work with CdLS today by serving as Assistant Conference Chair and helps to plan their biennial conference. He will be working at the Annual New England Golf Tournament soon that will raise funds for the foundation and create awareness for CdLS.
When asked why Norm spends his retirement in the NORD office and traveling around for CdLS in support of the organization he jokingly states, “It keeps me out of trouble,” then takes a serious tone and says, “It’s a labor of love. It really is. CdLS is my first love [and helping these children].” Norm is a true asset to the NORD office and the rare disease community by being committed to serving not only CdLS patients but patients of various rare diseases.
To learn more about CdLS and how you can raise awareness, visit www.cdlsusa.org.
RareDisease Dialog is the official blog for the National Organization for Rare Disorders (NORD). NORD’s staff and friends will share information of interest to the entire rare disease community.
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