THIS is ALD #23 — Mason

Are there any GOOD ALD stories? I guess we need to define the word GOOD.

good
/ɡo͝od/
adjective
“a good quality of life”

 

Jack (THIS is ALD #1), as a GOOD ALD story. He’s happy and can walk and see and hear and laugh. Although his life is full of challenges, we’re grateful that he’s enjoying a wonderful quality of life. If you look through the previous 22 THIS is ALD stories we’ve shared, you will find other GOOD stories, but sadly ALD is not a disease known for GOOD stories. As Newborn Screening spreads across the country (the world), GOOD stories will take over. Until then, a determined family, curious doctors and a lot of luck needs to come together for GOOD to happen. Mason had all three.

 

THIS is ALD.jpgTHIS is ALD #23 — Mason

48310016_516246782203674_178482150578847744_n

Mason was born on March 19, 2011- completely healthy according to doctors. When he was 4 years old, he was admitted to the hospital for the first time. He had gotten sick out of nowhere — started vomiting and could not get out bed on his own. In the hospital, all the tests they ran were negative, so after a few nights we were sent home with no answers. They said it was just a virus.

Everything went back to normal for close to a year when the same thing happened, but this time with a fever. Mason started vomiting and became weak and dehydrated and refused to get out of bed. He was admitted to the hospital for a few days and again all the tests came back negative and we were sent home being told it was just a virus. Three to six months later, it happened again and then again in December, 2017. It was the forth time he was admitted to the hospital with similar symptoms. Luckily, that time an endocrinologist was asked to come see him. The doctor reviewed Mason’s charts and immediately ordered an adrenal test. Mason was diagnosed with adrenal insufficiency and put on hydrocortisone. Before we left the hospital, the endocrinologist mentioned the word “Adrenoluekodystrophy” (ALD), but didn’t give us many details. All he said was that Mason was not showing any signs of the disease (other than the adrenal insufficiency), but to be safe, he ordered an MRI to rule it out.

The MRI was scheduled for January 25, 2018. After Mason had his MRI, I started Googling ALD, and convinced myself he did not have it because we had no family history of the diseases and he was not showing any symptoms. His appointment with the neurologist to review his MRI was on February 19, 2018 and I was calm leading up the meeting. February 19th arrived, and we got the news I thought for sure we would never hear — Mason had ALD.

I broke down and was terrified that Mason would start showing signs of the disease quickly. Our neurologist called Dr. Lund at University of Minnesota Masonic Children’s Hospital (Dr Lund is a leader in ALD treatment). Within a couple of weeks we were heading to Minnesota for our consultation for a bone marrow transplant (BMT). We were there for a week and found out Mason’s LOES Score (a determination used to rate the severity of the progression of the disease – it ranges from 0-34) was between a 3 and 4 and he was a good candidate for a BMT.

Instead of starting the process right away, they sent us home to wait for insurance to approve the treatment. That was the longest and most stressful month of our lives. Waiting on our Michigan Medicaid to approve an out-of-state BMT that was considered a “trial or experiment” (BMT, if successful, stops the progression of the disease, but is not considered a cure). For a month, a day did not go by without me crying on the phone with the insurance company or the doctors in Minnesota.

 

At the beginning of April, we finally received approval from insurance and were told that our doctors found and 8 out of 8 cord blood match. Mason had his transplant on April 26, 2018 and it went better than doctors expected. We were discharged from the hospital only 12 days post transplant.

I know Mason’s story is a miracle and I have not heard many other ALD stories as positive as ours. We are very blessed to have had the transplant in time and that Mason continues to be symptom free (with the exception of adrenal insufficiency). Michigan does not do the ALD newborn screening yet, but will soon hopefully.

-Erica

*******

Reading Mason’s story gave me chills. My hope is that stories like his will be the new face of our disease. An early diagnose, treatment, followed by a healthy life.

I’m by no means saying that ALD will ever be an easy diagnosis. Even with the “luck” of having that endocrinologist being wise enough to test for adrenal insufficiency and then following up with the MRI which properly diagnosed Mason, his family faced a lot of challenges. Fighting with insurance companies, financial responsibilities connected to treatment/travel/etc, the pain/discomfort/agony of a transplant — all these things will never make ALD an easy diagnosis. Still, the future looks bright(er).

And, Mason’s smile is super bright!

Thank you Erica for sharing Mason’s ALD story.

Love, Jess

It’s NOT a Secret Anymore!

ThinkstockPhotos-493238528-640x213

An article I wrote about medical marijuana was published today on The Mighty – CLICK HERE TO READ IT!

If you are an avid reader of this blog you may recognize the initial story, but dig a little deeper – there’s a lot of information. Medical marijuana has been a life-changer for JackO. I hope sharing our story helps other people dealing with chronic pain/spasticity/anxiety/digestive issues – the list goes on and on and on.

Love, Jess

 

The Skimm and the Panda

panda-snowmen-puzzle-670x670

Yesterday morning, The Skimm brought me an early Christmas present.

I get most of my news from the morning talk shows. A sound bite of serious, sprinkled within hollywood gossip and seasonal recipe ideas. It’s about all I can handle, but several months ago a friend recommended I check out The Skimm. Perfection. It’s an email that arrives every weekday morning with the important news stories of the day. It’s written like a friend is telling me (for the “Jesses” out there, not the “Dans”). No Skimm on the weekends which makes it even better – who really wants news on the weekends?

Our weekday morning routine is nuts here. We rush around, as if the school bus arriving is the strike of midnight and we will turn into pumpkins. Showering, toileting, eating, medicating, hydrating, brushing and tackling Jack’s “special shoes” onto his “special feet”. When we are done, Jack and I relax, plant our bottoms on the stairs, and open up the Skimm. Jack sits up straight, puts his arm around my neck and we read the news for the day.

Yesterday, among the clutter of news about the fight against ISIS, E.coli and gun control (pro gun control/con ISIS and E. coli), was a story about THE PANDA IN THE SNOWMEN. Finally, I understood what I’d been half-hearing all morning on the Today Show. I double clicked the link so that I could check it out. I’m not great at getting through a newspaper, but I am good at puzzles and within a minute I saw him. “Jack I see the panda. How about you?”

I pointed my finger, which he took without hesitation, and he pointed directly at the panda. Seconds. Amazing.

I know that some of you are thinking that it’s cheating because I let Jack use my hand to point. I thought the same thing when the school told me that it was their latest technique for having Jack make choices. I figured that it was like using a ouija board and that whoever was in change was subconsciously directing. I assure you that it’s not. Jack is quite clear about his intentions. And, Jack quickly saw the panda.

A friend commented to me that the trick with those types of puzzles is to relax your eyes and not stress. No wonder it came so easily to Jack. Jack lives his life fully relaxed and with no stress. We should all be so lucky.

MeRrY ChRiStMaS EvE!!

 

Love, Jess