- I am so thankful for how far science/medicine has come in the last 30 years.
- I continue to be amazed how far science/medicine still needs to go and how little is known about and/or can be done to treat so many diseases (like X-ALD, PBD-ZSD, and so many others).
- I will continue to be absolutely furious that there are boys who have been diagnosed early enough (before they become symptomatic) with X-ALD, that treatment with Lorenzo's Oil could possibly hold off the progression of the disease but they are unable receive this treatment because the FDA still hasn't approved it. There is an ongoing clinical trial but only around 75 to 100 boys are able to be involved in it at any given time --- and with budget cuts there is concern that the funding for the trial won't be available for much longer. To put this into perspective: X-ALD is estimated to have a prevalence rate of 1 in 20,000 individuals which means that since there were just over 4 million children born in the US in 2008, that more than 200 people are born with X-ALD each year in the USA. While women who are the "carriers" of the disease and do not have the same types of symptoms that males experience, many women begin have a number of health issues later in life due to the disease. Lorenzo's Oil is not a cure, and isn't effective in stopping the progression of the disease in all boys, but it can provide a glimmer of hope for families and it just hurts my heart that all of the boys do not have access to something that could save their life! In addition to Lorenzo's Oil bone marrow and/or cord blood transplants are now options for some boys with X-ALD but again are the most effective if done prior to the boy developing the neurological symptoms (damage to the white matter in the brain.)
- I will continue to fight for the newborn screening that will identify boys with X-ALD and children with PBD-ZSD & DBPD! You can learn more about the fight for this newborn screening here.
- I am so very blessed to be a part of The Global Foundation for Peroxisomal Disorders (GFPD) and that we have an amazing team of physicians and researchers who believe that there is something that can be done to help our kids (even if it hasn't been discovered yet) and that our kids and families are simply not a number to them. We have had so many pioneers in our group. From the families who had children in the DHA studies over 10 years ago, those who have been/are part of the Bile Acid study, those who have courageously fought for the best quality of live for their child (no matter how much time they are here on this Earth), to the families who are looking to participate in the Betaine study in the near future and to all of the parents who have been on this journey long before there was a GFPD. And of course I don't want to forget to honor the countless numbers of families that were changed forever because of PBD-ZSD long before the doctors even had a name for the disease and all that these families knew is that their children had so many health and developmental problems and no one could tell them why (and acknowledge that this is still happening today in many parts of the world). I am so proud to be part of such a brave, strong, and amazing family. GFPD is so very dear to my heart.
- While GFPD is the main voice for the PBD-ZSD community there are other parents just like us that are fighting for the lives of their children who are impacted by other rare diseases and that we never know when a "breakthrough" in treatment for another disease might give insight for treatment options and hopefully someday a cure for PBD-ZSD.
- While today I fight for Ethan and all the children currently living with PBD-ZSD, I understand that all of this might be indeed more beneficial for the children who are not yet even born. I realize that real treatment options and a cure may not be in Ethan's future, this side of heaven, but that isn't going to stop me from working to make a difference for those who are here now, and the families like mine whose lives have been forever changed by this diagnosis. We aren't going to stop searching, supporting, and praying for treatments and a cure!
So much has changed over the last almost eight years since Ethan's birth and subsequent diagnosis with PBD-ZSD, yet at the same time so much hasn't. Unlike parents of typically developing children we find ourselves still parenting a child with complex medical needs who's developmental skills range anywhere from 9 to 18 months. Ethan still has PBD-ZSD, and right now his uncontrollable seizures are a major issue. We still fight PBD-ZSD the best we can each day with a basket full of medications and supplements and other medical interventions (feeding tube, cochlear implant, AFOs, etc), numerous therapies, school (which Ethan loves), and prayer. We advocate for him and all children and families impacted by PBD-ZSD and related peroxisomal disorders through our involvement in the Global Foundation for Peroxiso…