Today is Rare Disease Day – a worldwide event to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. I am so proud of all of the ALD folks that are in DC this week raising awareness of our (not so) rare disease!!!
Today I am sharing another story of a beautiful boy from Mexico. More proof that research, education and newborn screening for ALD is a global issue. Meet David.
THIS is ALD #16 — David
Describing ALD in David is difficult. It’s a story that I never wanted tell, as if it were a bad dream that I have not yet awakened.
The first 5 years of David’s life were similar to any child. He was very playful and talkative with a great ability to learn new things. He was a child full of curiosity about everything.
Originally posted on smiles and duct tape: ALD is a horrible disease that can take on many different forms. This family’s story is fascinating because it has clearly been present in their family for some time without symptoms that you might expect. ? THIS is ALD #15 — Kayden and Braxton We welcomed our beautiful…
We are finally caught up with the original stories and ready to keep going. Welcome to THIS is ALD #14 — Alex (and his family).
My family knows ALD and it’s damned misfortunes too well. I lost a little brother, Miguel, in 2001 when he was only 10-years-old. We lived in Mexico where there is very little knowledge of ALD and unfortunately the doctors treated my brother with a series of “experiments”. He died as a result of the doctor’s negligence.
Last year our family received more terrible news. Doctors had once again had a difficult time diagnosing odd behavior and dark tanning (two symptoms connected to ALD) in my 8-year-old nephew, Angel, and my 7-year-old son, Alex. Both the boys tested positive for ALD.
Angel, deteriorated very quickly and does not speak, walk, move or eat on his own. He is also in diapers. Just a few weeks ago we got the news that his younger brother, Adam, also has the mutation. He is only 3-years-old. ALD is a cold and controlling disease.
After my son, Alex, was diagnosed, I shared information about what was happening with my son with Dr. Eichler at MassGeneral Hospital for Children. We were relieved when he and his team gave us the opportunity to be included in a gene therapy trial. We are currently in Boston for the treatment and feel very optimistic that the treatment will stop the progression of the disease.
ALD is a cruel disease that can strike out of nowhere and move quickly through a family. As newborn screening becomes more and more common in the US, we are going to see many more “good ALD stories”, but we need to remember that there is a whole world out there that needs to be educated – about the disease itself, newborn screening and treatment options. Alex is blessed to have a family that managed to find one of the leading ALD doctors in the US and that Alex qualified for the gene therapy trial (for more about gene therapy and ALD – — CLICK HERE). Their family has been given the gift of hope.
Stay strong Alex! You are a warrior with a brilliant smile!!!! Sending love to you, your cousins and your entire family.
Update: Alex got out of the hospital Monday and is doing great!
Sorry that the you need to open the link this way. I am currently fighting with technology. If you missed the story of the Waterman boys the first time, please read this to better understand the importance of newborn screening.
Originally posted on smiles and duct tape: Last fall I went to an ALD symposium with several other families effected by our disease. Among the group was a couple, John and Kathy. I learned quickly that they had recently lost their son, Blake. I was shocked that just four months after losing their son, they…
Originally posted on smiles and duct tape: By now I hope you are starting to understand Adrenoleukodystrophy (ALD). If you know our family or have followed Smiles and Duct Tape for a while, you know what ALD looks like for Jack. THIS is ALD has hopefully helped you to better understand what the disease looks…
Originally posted on smiles and duct tape: ? THIS is ALD is gaining some traction. Not just in the ALD world, but I’ve heard from many non-ALD folks that they are appreciating learning more about the disease. ALD can look very different person to person. Here’s a story about a boy named Nicholas. Another success…