The Importance of Newborn Screening in SMA [VIDEO]

Hey DeAnn – Thanks for posting this as it’s a critically important subject. Oh, if it were 5 years ago when we weren’t even sure treatment options would be available. 🙂

Like you, I am doing well on Spinraza with little if any side effects and I (so far) have handled the injections well.  Including the initial loading doses, I’ve had a total of…[Read more]

Hey Kevin. Hope you’re doing well. Nice adaptation. 🙂

Fortunately I already have a LOT of exercise equipment at home, including weights, straps (therabands), exercise balls, a NuStep recumbent stepper as well as a Shuttle Mini Press leg press machine.  I do light weights and a host of stretching and ROM exercises.  These workouts last between 2…[Read more]

I’m getting treatments at an offsite outpatient facility at Hopkins.  I was just contacted for my next maintenance dose, scheduled for May 20th.   This will be exactly 16 weeks from my previous maintenance dose at the end of January. Also received orders for pre-treatment labs.  In speaking with others being treated through Hopkins, I’m not aw…[Read more]

Happy New Year!  Low key transition to the new year and decade for me.

Thank you, Alyssa.  Very kind of you.  And I understand these are aggressive goals, but I will continue to push myself and take advantage of every opportunity presented.  And choice in treatment protocols is overwhelming at times.  That we are here today is simply amazing.  I’m not quite at the place of Lou Gehrig when he made his “luckiest man”…[Read more]

Thanks DeAnn.  Yes,it is amazing to me that this choice is even a possibility.  I’m 40 years in from my diagnosis and lost a brother with SMA back in 2004.  That we are here today and soon with Risdiplam is incomprehensible at times.

I will not speak for her, but I got the feeling that there seems to be some indications or evidence that Ri…[Read more]

Hey Alyssa –  I just posted under Risdiplam section that I’ve had my 4th maintenance dose in October.  So far, most of my gains have been in the lower body: increased strength and muscle mass in my quads, VMO, hip flexors, and anterior tibs.  Some improvements in upper body strength, but less significant and not as measurable.  I’m still using my…[Read more]

Very sorry to hear of your loss, DeAnn.  RIP Roy.

Excellent topic.  I saw my neurologist at Hopkins just yesterday for my annual MD clinic visit, Dr. Charlotte Sumner. She mentioned both Risdiplam and Biogen’s study on increasing dosage amounts for Spinraza.  The expectation is that Risdiplam will be approved for all patient age groups and SMA types in the first few months of 2020.   It is dai…[Read more]

Hey Kevin –

Nice article.  I believe I mentioned before I do aqua therapy weekly since October 2016.  I was previously doing land appointments every other week.  Those are now also weekly.  Definitely a high light of my week, especially in the pool.  The progress in the pool has been significant since starting Spinraza in May 2018.  My home exerc…[Read more]

Thanks DeAnn.  They are a good company, but part of it is their strong social consciousness and footprint, not wanting to be viewed as unfriendly to employees, with or without disabilities.  Bottom line is I can do the job and that helps them meet their objectives – and it keeps me off the street and (mostly) out of trouble.

And hey, completely u…[Read more]

So, had my annual clinic visit at Hopkins today.  That was interesting as we discussed bone density.  Dr. Sumner wrote me a script for a DEXA scan and will meet with me after the results are available to discuss options.  So, interesting you mentioning that DeAnn.  She did mention the possibility of meeting with an endocrinologist depending on the…[Read more]

Apologies if this ends up being a duplicate.  I edited and resubmitted my original response and now it won’t display.

I have worked for the same company for almost 32 years (in November).  I was ambulatory without devices (crutches, cane, walker, etc.) at the time I started and declined over the years to where I’m using a power chair full time s…[Read more]

That’s a bit of a tricky one to navigate Ryan.  It used to annoy me a little, but I don’t want to go around being or staying annoyed about other’s ignorance or insensitivity.  That said, I never had a problem speaking up.  “Ahem, I’m right here.”

If you are regularly with a group of people, friends, family, or caregivers, let them know this bo…[Read more]

That is wonderful Ryan!  Congrats!

There were two women at work who had just attended a religious seminar on healing.  Their post seminar assignment was to perform a healing on someone.  Insert Mike as the perfect subject in need of a healing.  Bear in mind that I was still ambulatory at the time, and using a cane.  They approached me as I was heading to my car after work.  I was…[Read more]

Wow!  I’ve never heard that one “visualize”.  SMH.  Pretty funny reply Kevin.

I had an older friend of the family tell me that people have disabilities as well as general physical ailments because they don’t have enough faith in God’s healing powers.  It was all I could do to not go anywhere from nuclear to post-apocalyptic with her.  Took a couple of deep breaths and calmly explained to her the fallacy of her “logic”.  Ye…[Read more]