December 10, 2010 at 1:44 AM CST - Updated June 23 at 1:00 AM
For parents, knowing their child is sick may be one of the most difficult things to endure. So imagine, when an otherwise healthy child suddenly presents alarming symptoms and deteriorates until his or her death. That's what happens with Adrenoleukodystrophy, or ALD.
Phil and Melissa Golden's son has this disease. He's just nine months old. Phil says despite his son's diagnosis he wouldn't change anything. "I don't feel like there are any regrets. I mean look at him. Look at this child. He's beautiful."
Brooks hasn't even celebrated his first birthday, but already he's been dealt a life sentence.
ALD is rare. It affects one in 18,000 boys. It's an inherited genetic disease which leads to progressive neurological disability and eventually death.
ALD is carried on the mother's side. Brook's mom, Melissa, is a carrier, which means she had a 50% chance of passing it to Brooks. Melissa was adopted. Her biological brother died of ALD when he was 12. Melissa and Phil Golden didn't know she was a carrier until it was too late.
Phil says, "It's irresponsible to bring a child into this world that could possibly have such a terrible disease." For now, Brooks is asymptomatic. "Brooks is a baby, so, hopefully he's ok for another few months."
The childhood cerebral form generally appears in mid-childhood, between the ages of four and eight. Early signs include hyperactivity, handwriting impairment and even seizures. As the disease progresses, there's a deterioration of all functions including speech, hearing, sight, mobility and the ability to swallow. All of these symptoms can occur within just months of initial onset.
Currently there's no cure for ALD. There are treatment options available, and experimental tests in the works, but for now, Phil says his focus is on today and not the road ahead. "I don't see anything. I just have to look at the present."
David Cry, the CEO of the ALD Foundation calls it a "parent's worst nightmare" disorder. He has the adult form of the disease, AMN, or Adrenomyelonueropathy. David has made it his life's work to help the families of ALD, raise awareness and money to find a cure. David says, "My momma didn't teach me to give up. She didn't teach me to throw in the towel."
David has championed to get ALD included in mandatory genetic screenings for newborns, something he hopes will come to fruition soon. "Life is not so much about the things that occur, but rather how we handle the bad situations we're handed."
David says Brooks still has a fighting chance since he hasn't developed symptoms yet. As research progresses in gene therapy, David says his hope is that there may be a way to eradicate this disease by the end of the next generation. For now, Phil and Melissa say they'll enjoy each day they have with Brooks.