THIS is ALD (one story at a time)

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For the past few months, I’ve been asking people to share their Adrenoleukodystrophy (ALD) stories to post on my blog, Smiles and Duct Tape. My goal has been to educate readers on all the different ways that ALD can affect people AND to prove the importance of Newborn Screening for ALD to help change the future of our disease.

The ALD community has been amazing — sharing honest, powerful, sometimes painful, sometimes beautiful pieces, and the stories continue to roll in. I’ve decided that it’s time to make THIS is ALD into it’s own blog.

Hopefully, we will gather so many stories here that it can become a resource for ALD families to find their community and for non-ALD folks to better understand our disease.

Welcome to THIS is ALD (one story at a time), the blog.

Love, Jess

If you have an ALD story, please contact me at jctorrey@mac.com.

 

 

 

THIS is ALD #18 — Margaret

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If you haven’t read THIS is ALD #17, go back. It’s an incredible piece showing how ALD can weave itself through a family for generations. It was shared by an ALD mother/daughter/grand-daughter/great-granddaughter. She is also a symptomatic carrier. THIS is her story.

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THIS is ALD #18 — Margaret

I first started noticing little things, symptoms, in my 20s. The first thing I distinctly remember is the feeling that ants were crawling on my lower legs. Then I had back spasms; I’d be sitting at work and my back would knot up. I attributed it to having to sit a lot at work. But then I started visiting a chiropractor who did massages and we couldn’t figure out why or how my neck muscles used to get so tight in between appointments. I then started to visit a massage therapist, leapfrogging between the chiropractor—and my neck and shoulder muscles were…

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THIS is ALD #17 — Margaret, Andy and a long family history of ALD

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This is ALD #17 — Margaret, Andy and a long family history of ALD

My name is Margaret Bray. I’m 47 years old and an ABCD1 obligate, symptomatic, carrier (more on this will be posted tomorrow). Out of my three sons, only my middle son has inherited the gene. My sister is Jamie Garrison Barlow and she’s a carrier. She passed the gene to both of her kids – a daughter and her son, Bradley Hartman, who passed away last July at the age of 21. Her daughter gave birth, with a little medical assistance, to a beautiful girl on July 1, 2017, who is not a carrier. It’s a wonderful and beautiful story!

My mom is a 72 year old symptomatic carrier. She is Jamie’s biological mom also. (Jamie was given up for adoption at birth by our mom. She was reunited with Mom and met me on November…

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THIS is ALD #16 — David

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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.jpgTHIS is ALD #16 — David

28534779_1638656542889364_254964003_nDescribing 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…

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THIS is ALD #14 – Alex

We are finally caught up with the original stories and ready to keep going. Welcome to THIS is ALD #14 — Alex (and his family).

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Alex

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.

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Miguel

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.

—Griselda Jiménez

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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.

Love, Jess

Update: Alex got out of the hospital Monday and is doing great!