Tag: RUSP

Categories
Clinical Care Education General Newborn Screening Policy

Mld Family Conference™ – Register Now!

MLD Family Conference™ - Pittsburgh 2014 - low
MLD Family Conference™ – 2014 Pittsburgh … click to enlarge

Registration for our 2105 MLD Family Conference in Newark Delaware is underway and closes in just a couple of weeks.  If you are a MLD Family we’re anxious to have you register.

Many of your MLD Family will be there to meet, share, and socialize with.
Please bring your MLD loved one with you – we not only want to meet them, we have a special professional photographer to take your family’s photo while capturing the spirit of our special loved ones and the MLD journey through photography.
You will again find familiar faces in the Respite room to care for your other children and your MLD loved ones.
Those with MLD angels are always lovingly encouraged to attend – you have so much to share with the rest of us and you will surely find folks that “just get it”.
Conference details and an agenda are here: http://mldfoundation.org/mldfc/mld2015-de.php  We’ve organized some travel grants as well as registration scholarships if you need some help.
Some other highlights:
* Dr. Biffi will be attending (in person) and sharing/discussing the Milano gene therapy clinical trial.
 
* Shire will be discussing their ERT clinical trial status and sharing some interim results.
 
* Newborn screening … updates on the assay development, federal/state policy & actions, and the RUSP Roundtable we are organizing … and how you can help!
* On Saturday, as usual, you will drive the Practical Care agenda, … including a discussion about medical marijuana  & CBD oil .
* We’re working hard on a special fun Saturday evening event, a memorial butterfly release, the traditional MLD “bashing”, and MLD After Hours.
We have many of the global MLD experts attending so you can meet them and ask any questions you may have.
With travel support and scholarships available, all you need to do is register!  You can defer paying the modest registration fees for a few weeks if you need to, but we want to know you are coming so we save the right number of sleeping rooms!
Categories
Advocacy Newborn Screening Policy Research

Newborn Screening – Should a Viable Therapy be a Requirement for a NBS?

The requirements for adding a Newborn Screen (NBS) to the RUSP (Recommended Uniform Screening Panel by the SACHDNC/DACHDNC (Secretary’s Discretionary Advisory Committee on Heritable Disorders in Newborns and Children) consists of four primary criteria:

  1. An acceptable treatment protocol in place that changes the outcome for patients diagnosed early with the disease
  2. An understanding of the condition’s natural history
  3. An understanding about who will be treated as a patient
  4. A NBS screening test that is reliable for both affected and unaffected patients and is acceptable to the public.

We are slowly becoming better at identifying and diagnosing Rare Diseases, unfortunately diagnosis occurs most often after symptoms are presenting. The great majority of the 7,000+ rare diseases do not have efficacious therapies. More than half of all rare diseases affect children and 30% of those children will not live to see their 5th birthday (1).

“There is always a therapy – it may not be a cure or a disease specific treatment, but we can always do something to optimize quality of life.” Paraphrase of Dr. Marc Patterson from the Mayo Clinic, Rochester MN.

With MLD and many other rare diseases, the diagnostic odyssey can last years and usually there are multiple misdiagnoses along the way.  If we don’t know what disease we are dealing with we can’t be sure we are providing the best care. A NBS for MLD, even without a treatment, would avoid the diagnostic odyssey and allow parents to know up front what to anticipate for the best care of their child – resulting in an optimized quality of life for their child and for the family.

There are good arguments for requiring a viable treatment before formalizing a NBS as well. Test and treat – don’t create a sense of helplessness and panic where there is no therapy. Don’t cause parents to take desperate actions to “do anything” for their child.

In the absence of a viable treatment a whole slew of questions come to mind … who is going to follow up with and provide social and medical care for the family, is there a financial impact on society for increased earlier care, would the role of the family support organizations change, what about the ethics of detecting a disease with a later onset, or parents that want to opt out except for disease with viable therapies, etc. …

Parents and families are starting to clamor for more medical knowledge sooner so they can better care for their children and industry is also awakening to the advantages of a pre-viable-therapy NBS – the potential negative this would have on the ability to capture natural histories that are necessary to get therapies approved being traded off for the identification of patients for potential study and real disease prevalence information.

I am calling for a NBS Therapy Summit or series of summits in the near future, perhaps starting next fall or winter, to encourage all interested and affected parties to share their concerns, views, issues, and thoughts.  An open discussion will give us all indications as to if the viable therapy requirement should be reconsidered.  If you are a public health official,  researcher, policy/regulatory person, SACHDNC committee member, parent, advocacy group member, an industry representative, clinician, or just interested in this topic I encourage your participation.

Follow this blog and I will keep you posted on any progress towards a summit..