THIS is ALD #11 — Marty

IMG_5265

I’m hoping that THIS is ALD is helping people better understand that Adrenoleukodystrophy doesn’t always follow the same path. There are several phenotypes of the disease – Jack’s form is childhood/cerebral ALD. There are also people with the same genetic mutation that are completely asymptomatic or develop adolescent ALD, just adrenal insufficiency, or AMN – a form that generally progresses more slowly than childhood ALD and effects adults.

I’ve wanted to share an AMN story to help show a different form of our disease. Thank you Marty for sharing your story with us.

THIS is ALD #11 — Marty

20156014_10213906976457352_1883540087658711490_n

My name is James Martin Luczak Jr. and I recently joined the fight for Adrenoleukodystrophy prescreening so nobody else needs to experience life the way I did.

I have AMN – that’s adult onset ALD. My symptoms started showing around age 25. First a struggle with urinary incontinence and then a limp – I started dragging my left leg. Suddenly, I couldn’t work an 8 hour day so I saw a chiropractor, and he said he couldn’t help. I saw a neurologist, and she took x-rays of my spine and sent me to a neurosurgeon. They saw a ruptured disc, so we fused them. Things only got worse after spending two weeks in a hospital bed and two more at home. Atrophy set in and physical therapy provided only a marginal improvement. I had left the hospital with crutches and continued to use them for over 10 years. Last year, I decided my hands and shoulders needed a break so I now use a wheelchair. From the waist down my legs are now useless. Lots of muscle spasms. Very painful and awkward. I’ve self-catheterized for almost 10 years. I had carpal tunnel surgery in both hands. I have a terrible memory and slow fragmented speech.

I’ve been struggling with these health issues for the last 20 years with no formal diagnose until recently. I was on what doctors refer to as a “diagnostic odyssey”. That odyssey was funded primarily by tax payers. 100k back surgery, multiple treatments, and visits to doctors and specialists. Treating symptoms instead of finding the root cause. Treating symptoms without the proper diagnosis can get very expensive. Conservatively speaking, My odyssey totaled over a half million dollars.

Today I’m 47. I got my diagnosis at age 44. What’s important to know is the way I was diagnosed. November 2014, my niece moved to NY in the 8th month of her pregnancy and gave birth to a baby girl. That baby was screened for and tested positive for ALD. A few months later, after reviewing a chart of symptoms, I noticed they mirrored mine and I became suspicious that I too had ALD. After testing, it was confirmed the following June.

Had my niece not moved to NY, I’d most likely live the rest of my life without knowing and continuing on an odyssey or even worse… Giving up. Having said that, I’m here today, more aware than I’ve ever been in my life. All because of people like Janis Sherwood with Fight ALD, Patti Chapman with The Myelin Project, and Elisa Seeger with Aidan’s Law. I must thank them because without them and their determination, me & my family would not know that there is a killer among us (that newborn screening test didn’t just expose my disease, but my mother, sister and niece all discovered they too have the mutation). And, when there’s a killer among you, you arm yourself. My ammunition in fighting ALD is knowledge. That’s what this fight is about. Knowledge.

— Marty

 

20476075_10213770940526043_1321683360092871093_n

Marty, Elisa Seeger and Janis Sherwood

**********

There’s a theme running through many of the THIS is ALD stories – newborn screening provides hope and knowledge and as Marty points out – SAVES MONEY. Unfortunately, when it comes to persuading states to add a disease to the newborn screening panel, it needs to be proved that not only will it improve the quality of life for patients and save lives, but that testing for the disease will be cheaper than NOT TESTING. Marty is proof of how expensive a “diagnostic odyssey” can be. Jack is proof of how expensive a late diagnose can me. Between his treatment, special schooling, Social Security, Medicaid, etc – Jack’s ALD has cost tax payers well over $2,000,000 to date.

Thank you Marty for sharing your story and for becoming an active participant in the fight to change the future of ALD. I look forward to meeting you in person and introducing you to Jack!

Love, Jess

 

 

 

 

 

 

 

 

5 thoughts on “THIS is ALD #11 — Marty

  1. Thank you Marty for sharing your story. What a long challenging journey to your diagnosis. My dad was diagnosed around your age as well, and it if weren’t for extreme circumstances, I would have never found out I was a carrier and my son wouldn’t have been tested. Because of this, his life has been saved. So insightful of you to point out all those we have to thank in our life’s journey and all those who have worked so hard and continue to devote their lives to newborn screening. Keep up the good and brave fight! God bless you Marty and our ALD family!

    Liked by 1 person

  2. Thanks for sharing, Marty. I’ve seen your name in the different groups, and now I know your story. Look for our story in the coming weeks. Knowledge is power, and Together we are stronger.

    Liked by 1 person

  3. Pingback: THIS is ALD #11 — Marty – THIS is ALD

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

w

Connecting to %s