Elisa Seeger: Our son, Aidan Jack Seeger, was diagnosed with ALD (adrenoleukodystrophy) on June 2, 2011; he was just 6 years old.  ALD is a horrific X-linked metabolic disease, which affects the myelin sheath in the brain and affects all neurological functioning, eventually leading to death. ALD most severely affects boys, where women are carriers. ALD usually does not present before the age of 4 and is most severe between the ages of 4-10. Aidan was in 1st grade, above grade level and running and playing as any other child his age. He started having vision problems around April and we just assumed he needed glasses. All of a sudden he started reading and writing with his head as close to the table as possible. We began by taking him to our ophthalmologist, who after a routine visit said, “Aidan has 20/20 vision”. We decided to take Aidan to a pediatric ophthalmologist who also said “Aidan has 20/20 vision, sometimes kids at this age compensate because they are just learning to read and write.” As parents, we knew there was a distinct change in our son and we returned to the pediatrician who suggested a retina specialist. During our visit with the retina specialist, the doctor did see something was wrong, but he couldn’t distinguish what the problem was. A third visit to the pediatrician, he recommended a visit to a neurologist. During the neurologist’s visit he asked Aidan to run up and down the corridor, touch his nose, asked him various questions all of which Aidan did perfectly. The neurologist felt there was nothing wrong with Aidan; maybe he was just “clumsy.” The neurologist did suggest having Aidan get an MRI to be sure. We received the MRI results within a day, as the technician did not know what he was looking at. Aidan had so much white matter visible in his MRI. This is when we received the diagnosis of ALD.  A VLCFA blood test, confirmed the ALD diagnosis. This was June 2, 2011 and a day that will be forever etched in our memories. We had never heard of ALD or adrenoleukodystrophy and received a death sentence for our 6-year-old son. This began our journey to save Aidan’s life. The only option to possibly stop the progression of the disease is a bone marrow transplant. We were on a plane the following week to the University of Minnesota, one of the hospitals with the most experience and knowledge about ALD in the world. We spent a week in Minnesota where Aidan received his work up to determine if he was eligible for transplant. We were overwhelmed with joy to hear “YES” he was still eligible for treatment, but the doctors were not certain the outcome as Aidan was late in his diagnosis and already fairly progressed in the disease.  We traveled to Duke University in North Carolina to receive a second opinion at the only other hospital with extensive experience in ALD. The doctors at Duke concurred that Aidan was still eligible for treatment and we opted to stay at Duke with our family so Aidan could receive his transplant. Aidan received his unrelated cord blood transplant at Duke University in North Carolina on July 21, 2011, also his 7th birthday. The months that followed were grueling, the bone marrow transplant was a success, but unfortunately, since he was already symptomatic and with the effects of the chemotherapy and the disease progression, Aidan lost his ability to see, hear, eat, walk and communicate.  After 10 months in the hospital, our baby lost his life on April 29, 2012. If New York and the rest of the nation had newborn screening for ALD, Aidan and so many other children’s prognosis would be different.  We have witnessed the miracles of children who have undergone bone marrow transplant before the onset of symptoms and are perfectly healthy today.   There will be 235 children born with ALD every year in this country, most will not be diagnosed until they are symptomatic and it is too late. We are so thankful that AIDAN’S LAW was passed on March 29, 2013 and EVERY baby born in New York State has been tested as of January 1, 2014.

As of September 2015; 39 babies have been diagnosed with disease in New York State not counting siblings and other family members. ALD Newborn Screening has given all of these families the knowledge they need to monitor and treat before the onset of symptoms. They have also been given the information they need to consider reproductive options when having more children.

I began Aidan’s Foundation in 2013 to fight for ALD Newborn Screening, to help families affected financially, raise awareness and fund research.

Here is a picture of the first “Aidan” baby I was able to meet. Matthew was born in January of 2014. I can’t explain the joy I experienced having Matthew in my life.

 

 

Here is a photo of Suzanne and her 2 sons Patrick and Gavin. Patrick was born in New York in 2014 and was diagnosed with ALD; because of Patrick, his older brother Gavin, then 4 ½ was also tested for ALD. Gavin also has ALD. Luckily, Gavin was not symptomatic and is able to be monitored and treated before the onset of symptoms.

 

The foundation’s work continues, as New York is currently the ONLY state testing newborns for ALD. A child’s life should not depend on their zip code and until EVERY baby born in the USA we will continue to fight. On August 27, 2015 the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (federal agency which recommends which diseases the states should test for) voted to add ALD to the RUSP or Recommended Uniform Screening Panel. Although this is a huge step forward, this committee can only make “recommendations” and not mandate the states to test for any disease.

In the last year I have traveled to Michigan, Illinois, Tennessee, Massachusetts and Connecticut to speak to legislators and newborn screening committees concerning ALD. We have had success as Tennessee and Illinois have voted “YES” to add ALD to their respective newborn screening panels. I will be traveling to Iowa, Indiana, and Ohio in the next month. I am currently working on a Federal Bill, which if passed into law will mandate EVERY state to test their newborns for ALD.

 

 

 

 

For more information:

Aidan Jack Seeger Foundation

Elisa Seeger

www.aidanjackseegerfoundation.org/

Elisaseeger721@gmail.com

917.750.9390