Tuesday, July 22, 2014

When Social Media Finds the Answers to Medical Quandaries

What happens when your child has a condition so unusual that the medical community doesn't even know what it is?   What happens when genetic sequencing reveals an answer, but the medical community tells you there's no hope for further research or treatments because no one else in the world has this condition?  What happens when parents don't accept that answer? READ THIS ARTICLE.    All I can say is WOW!

Monday, July 7, 2014

New MCADD Resource

I was super excited to find this one-stop-shop resource for all things MCADD on the new Reg4All website created by Genetic Alliance.  The disease info search has a wealth of information on all the latest scientific literature and clinical trials underway for hundreds of genetic conditions.  And Reg4All is a groundbreaking new way to share medical information (however much you are comfortable sharing) in a community of researchers for the benefit of everyone with that same condition.  Check it out!

Tuesday, June 24, 2014

Newborn Screening Saves Lives Act Passes the House!

The Newborn Screening Saves Lives Act is making a march through Congress, finally!  The latest incarnation of the reauthorization includes some measure that will improve timeliness of screening.  It was passed by the House and is now headed to the Senate. Contact your Senator to show your support!

Thursday, June 5, 2014

TIP - How MCADD Parents Can Better Work With Their Primary Care Physician

I read this interview with Dr. Beaudet from Baylor College of Medicine and was thrilled to see his comment about how well-educated the parents of children with rare disorders can be about their children's condition.  He also gives some good advice on how you can use that knowledge to work WITH your primary care physician.

It's definitely important to note that the physicians who study rare conditions like MCADD are fairly rare themselves.  Therefore, when a primary care physician caring for a child with a rare condition calls that specialist to ask a question, they are usually more than happy to have a conversation.  We should all use this advice to our advantage.

Tuesday, June 3, 2014

Any Michigan Families?

As a proud alumna of the University of Michigan, I was excited to see that they have been awarded a Challenge Grant from Genetic Alliance to do awareness work for newborn screening!  They are on a quest to catalog family stories about newborn screening for their project and if you live in Southeast Michigan, they'd love for you to participate!  Find out more here!  They need to hear from you by June 15th if you're interested.

Sunday, June 1, 2014

The Challenging World of FODs

A fellow Consumer Task Force on Newborn Screening Mom recently wrote an article for CoSozo about her family's experience raising three children with MCADD.

I would love for everyone to take the time to read her article.  I really love everything she has to say!  Thanks Kelly for sharing this with the world!

In case you missed that link, here it is again -- The Challenging World of FODs.

Saturday, May 24, 2014

Colorado Vaccination Legislation

Colorado House Bill 1288 was signed into law this week.  This is the update from Children's Hospital Colorado on the legislation:

Under Colorado law today, all children enrolled in licensed child care and schools (public and private) must be immunized against a series of vaccine-preventable diseases like measles and pertussis. Parents can elect to exempt their children from these requirements for medical, religious, or personal belief reasons. This bill requires schools and child care centers to disclose their immunization and exemption rates, and also directs the Public Health Department to create an online, evidence-based education module about the benefits and risks of vaccines.
Why it’s good for kids: Requiring schools to disclose their immunization and exemption rates will arm parents with good information about choosing the right child care center or school for their child, which is especially important for medically fragile kids who are at higher risk for vaccine preventable diseases.
Why it still needs more work: Currently, a one-time parent signature is the only requirement to elect a personal belief exemption. This bill initially included a provision that would have required parents electing a personal belief exemption to either get a medical provider’s signature or complete an online education module addressing the risks and benefits of vaccines. This requirement would help spread knowledge in our communities and ensure our children don’t get sick from preventable diseases. The hospital and a strong coalition of advocates will continue to work with parents, health experts, educators, and lawmakers to improve Colorado’s vaccine requirements. This is important policy at any time, but it is especially vital now, as Colorado is in the midst of a serious outbreak of pertussis (whooping cough).

I'm excited that by the time the law goes into effect, I will be able to know the vaccination rates of the preschool that LB will attend, but I'm with Children's Hospital on wishing the law went just a little further in requiring parents to have a documented conversation with a medical provider or view scientific information about vaccinations before putting their child (and those that come into contact with their child) at risk of vaccine preventable illness.  Maybe next year?