The Myelin Project sponsored California Assembly Bill 1559 – authored by California State Senator Dr. Richard Pan – in order to mandate newborn screening of adrenoleukodystrophy (ALD) in California. On September 25th, 2014, Governor Jerry Brown signed our bill into law making California the fourth state in the United States to pass legislation to screen newborns for ALD – a potentially life-threatening genetic disease that is manageable if detected early, before the onset of symptoms.
Newborn screening identifies conditions that can affect a child’s long-term health or survival. Each year, millions of babies in the U.S. are routinely screened, using a few drops of blood from the newborn’s heel, for certain genetic, endocrine, and metabolic disorders. Early diagnosis and proper disease treatment can make the difference between lifelong impairment and healthy development. Far too often when a proper diagnosis of adrenoleukodystrophy (ALD) is finally reached it is too late to save the child affected. This tragic result can be prevented if the affected individual and their doctors know they have the disease and can obtain lifesaving treatments early enough. For more information about Assembly 1559, click here.
To read updated ALD screening data in California as a result of this legislation, click here.
Do you want to fight for ALD newborn screening in your state?
Take the first steps by going to: http://openstates.org.
Find your local Representative and Senator, contact them to set up a meeting to have a Bill introduced in support of ALD Newborn Screening. It will be important to bring documentation of why implementation of ALD Newborn Screening is so important to saving lives.
Cost of adding ALD to a state’s newborn screening panel is minimal in comparison to the cost of caring for the boys that have been diagnosed too late and will need 24 hour care.
Cost Factors will depend on a variety of different factors including:
- Does your state have the equipment that is necessary?
- If not, are they willing to outsource testing to another state? (Most cost effective method for smaller states)
- Go to: Babysfirsttest.org to contact your state’s newborn screening center and find answers.
Over 80% of the current diseases tested for RUSP (Recommended Newborn Screening Panel) are rarer than ALD and some have no treatment options. With ALD it is crucial for an early diagnosis and treatment options are in place.
- The ALD newborn screening test is proven to be accurate with a false positive expected to be <.1%
- 1/17,000 children will be diagnosed with ALD
- An estimated 235 babies will be born every year in the United States with ALD
To find the number of babies born in your state: http://www.cdc.gov/nchs/fastats/map_page.htm
- Without the crucial early diagnosis these children will die from ALD or Adrenal Insufficiency
- 90% of boys with ALD will also have Adrenal Insufficiency, which is something that can present itself in the first few months of life and can be easily controlled with a pill that costs pennies a day. Non treatment of adrenal insufficiency can result in death.
- Once diagnosed with ALD these boys will be monitored with an MRI every 6 months, if any changes are detected treatment will consist of a bone marrow transplant or gene therapy
- Studies have concluded transplant prior to being symptomatic is the key to having a successful outcome,
- stopping the disease and these boys having a normal life
Cost effectiveness of treating pre-symptomatic boys as opposed to symptomatic boys is astounding. Pre-symptomatic boys going through transplant can be released from the hospital within 3 months with follow up visits, as opposed to symptomatic boys which almost always have significant disease progression and will need constant medical and nursing care.
For letters of medical support and other documentation that will be helpful, please e-mail: info@AidanJackSeegerFoundation.org
Has your child been recently diagnosed with ALD?
- Get a magnetic resonance imaging (MRI) scan of the child’s brain. This will tell you the extent of the progression of the disease, and determine next steps. It will also provide a baseline for you and physicians to use to compare with future MRI scans, which are generally performed at 6 month intervals.
- Have your child tested for adrenal insufficiency (Addison’s disease). The test for adrenal insufficiency is done by a pediatric endocrinologist. Addison’s disease is generally associated with ALD. The adrenal glands produce a variety of hormones that control levels of sugar, sodium, and potassium in the body, and help it respond to stress. In Addison’s disease, the body produces insufficient levels of the adrenal hormone, which can be life-threatening. Fortunately, this aspect of ALD is easily treated, simply by taking a steroid pill daily (and adjusting the dose in times of stress or illness).
- Consider limiting your child’s fat intake to no more than 30% of his daily diet. This is easily done by limiting red meats and using low-fat substitutes for things like milk and butter.
- If your child already has symptoms, the approved treatment for ALD is a stem cell transplant, using either stem cells derived from bone marrow or from umbilical cord blood (UCB). If done early enough, this treatment has been found to stop the neural degeneration. However, both types of transplantation are risky procedures that can also be life-threatening. Research shows that this treatment has its best chance of success when the child has no more than one diagnosed neurological deficits, and a Loes score of 9 or lower.
- A clinical trial for gene therapy is currently being administered through bluebird bio. Though currently under the early stages, gene therapy is thought to be a safer method of treatment, as the child’s own cells are being used, so no need to find a match in the bone marrow registry and no chance of rejection or the use of anti-rejection medications. For more information, click here.