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.
ALD first showing it’s signs when David was 6 years-old with problems with one eye, poor school performance and unstable behavior which, according to the little knowledge of the disease in Mexico, only gave David bad diagnoses.
Knowledge of ALD in Mexico is very limited. This caused a lot of wasted time. David was only given glasses for his vision and psychological therapy for his unstable behavior. Frustrated with the initial diagnosis, we were determined to find answers. An MRI indicated that there was serious problems with the myelin in David’s brain. He wasn’t suffering from major issues until in October of 2016 (less then six months from his initial symptoms) when David had a massive seizure and that caused him to lose the ability to speak and walk.
It was another two months before David was finally diagnosed with ALD. He is the first member of our family to have been diagnosed with the disease.
We and the specialists in Mexico considered all of our options and decided to perform a bone marrow transplant (I was able to be the donor). June 16, 2017, David received his transplant in a hospital in Mexico. His current chimerism shows that the transplant has been a success.
David has lost physical abilities during the 17 months of this journey, but the child that the doctors thought would die 8 months ago is still here with us, receiving love and we all feel very hopeful that he will break the cruel statistics of children, like David, diagnosed late with ALD.
Currently David attends physical therapy rehabilitation every week. He is very brave and the desire to fulfill his dream is to participate in a children’s race.
Our family continues our fight with courage and perseverance — believing that this is the beginning of a new history.
— David Alejandro Rivera
Thank you for sharing David’s story with us today. It remarkable to have received two stories from Mexico within such a short time. It emphasizes the fact that ALD is not a disease that is isolated to the United States. Although our fight is far from over here, we have made huge strides in ALD education/research (and we are not alone – there has been plenty of research/progress in other countries) – but it needs to happen EVERYWHERE!
If you would like to help new families who have been diagnosed with our disease check out the ALD Connect’s NBS SCOUT Initiative — CLICK HERE!