This welcome letter is written with much love from a mother who understands all too well how you are feeling in this moment. I have sat where you sit and felt the pain and devastation of having my son diagnosed with Adrenoleukodystrophy (ALD) through Newborn Screening (NBS).
I felt the anguish and fear wash over me, washing away all of my hopes and dreams for my child. It felt like the world was coming to an end. Please let my words comfort and assure you that this is not the end. In fact, it is the beginning. It is the beginning of a journey you will take to ensure the health of your precious child. Early diagnosis through NBS is the key. Knowledge is power.
Life with ALD can be a full, healthy, and normal one. While it will not always be easy, I can assure you that it is absolutely possible. With NBS for ALD being new, and ALD just beginning to be diagnosed in growing numbers, there was little information available to help new parents. This booklet is our way of sharing all that we have learned to help guide you on this journey. I know you are overwhelmed at the thought of doctors’ appointments, blood work, and MRIs, which will be a big part of monitoring your child, but all of this is absolutely doable. You will have the constant support and guidance of ALD specialists and other ALD parents. You are not alone.
My story began in March of 2014 when we joyfully welcomed Patrick, our third child and second son. Through NBS, we learned that Patrick was identified as having ALD. Since this is genetic, our older children were immediately tested, and our four year old son, Gavin, was also diagnosed with ALD. While we were devastated, we quickly recognized the blessing and special gift in our precious baby. Thanks to NBS and this early diagnosis, we would have the opportunity to save both our boys.
Today I am the proud mother of boys who are energetic, fun loving, healthy and thriving both academically and athletically, and who will be able to realize their full potential in life. The doctors’ appointments, blood work, and MRIs have become a part of life and even embraced by our boys who always seem to find the fun in everything, as children can often do. This will be your son. A diagnosis of ALD in no way takes away from how beautiful and precious your baby is and the joy he brings. Always keep your hopes and dreams for him intact because they will be realized. Have faith, and believe that your story, like mine, will be a positive one.