Spinocerebellar ataxia type 1. Anyone here familiar with this?

[herding cats]

Hopefully this is the right spot for this.

It's a genetic disorder and my brother was diagnosed with it last year.

Spinocerebellar ataxia type 1 (SCA1) is a progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well). Early signs and symptoms includes problems with coordination and balance (ataxia), speech and swallowing difficulties, muscle stiffness, and weakness in the muscles that control eye movement. Over time, SCA1 may cause mental impairment, numbness, tingling, or pain in the arms and legs and uncontrolled muscle tensing, wasting, and twitches. SCA1 is caused by changes in the ATXN1 gene and is inherited in an autosomal dominant fashion.

His symptoms actually began about 8 years ago. They've escalated drastically the past year. I'm his support and going to be his care provider and I was wondering if anyone here has dealt with this in their family? It's a long shot, I know.

I realize this is an extremely rare genetic condition, but I thought I might ask just in case anyone here is familiar with it. It's so rare it isn't something easily researched as to what to expect. The past year has made me suspect his issues with speech and mobility might rob him of his abilities to live alone faster than we expected.

[brer cat]

1. I don't know anything about it,

just want to give you a hug!

[herding cats]

2. Thank you.

I'll take it.

Life just happens. We're all along for the ride, no matter our best intentions and planning.

[brer cat]

3. Take care of yourself. Your ride has been bumpy already,

and care-giving takes a huge toll.

[Backseat Driver]

4. I can't tell you much about what to expect, but

NAF - The National Ataxia Foundation may be able to connect you as a caregiver and patient to a support group or others about what may work best for both of you.

Could your brother possibly qualify for or consider participation in any appropriate clinical trials regarding therapies for his specific diagnosis? It's only been known since 1992, evidently; so gathering lifetime data and therapy modalities are still important for best care and caregiving.

Take good care of yourself, as well, both mentally and physically. Keeping a journal might help keep everything ship-shape; you're likely to get lots of instructions from the pros and preferences from the patient. We'll be here for you, that is for sure!

[Easterncedar]

6. Good advice!

Especially about self care. Very important, as it seems you might have reason to know.

[Backseat Driver]

7. Yes - long story; w/DH's dad - very different diseases

It's great as a patient to have a good attitude and easier if the patient understands how the body works; it's far different than being unrealistically and subbornly convinced one will regain independent living at home, but he aced physical therapy and occupational therapy checklists, and suffice it to say, he beat sepsis complications twice and later, an e. coli heart infection and pneumonia complications after surgery for Stage 4 bladder cancer at the beginning of this saga and kidney failure at the end of it. His bed was in our dining room for many months. When he could no longer pay for assisted living, he returned to our home on oxygen and the bed was switched out to the family room so he could use the half-bath for functions, urostomy bag changes, and bathing--Then his kidneys quit; 3 x a week dialysis runs. His electrolytes were often out of whack, so he sometimes didn't think right or became unconscious. He was also deaf with hearing aids he would not wear. He outlived his funds and ours. He didn't qualify for VA assistance (Navy WWII). We were thankful for Medicare's Kidney disease coverage. DH, an only child, never qualified for Family Leave; but that was unpaid anyhow then as now, so...I'm hoping your relationship is loving and you can figure out a good communication system before things get evermore challenging. Do take care of yourself. Like I said, someone's always here!

[Easterncedar]

8. Oh, that's a rough story. So sorry you had to go through that.

The medical “system” in this country is shameful. I was lucky to be able to keep my partner home, with some paid assistance and hospice care, to the end.

[Easterncedar]

5. Not the same, but symptoms are similar

My sweetheart had a rare neurological disorder, progressive supranuclear palsy, or PSP, characterized by loss of muscle control, which affected speech, swallowing, vision, walking - everything, really - by sudden falling backwards and by memory and other mental damage.

Caregiving is hard. Very hard. I was helped by an online community based in England called Health Unlocked, which is focused on movement disorders and is organized into groups supporting sufferers of various diseases and their caregivers. It saved my sanity. I hope you can find something similar. (You might check out their website.) Nothing compares to having the advice and support of folks who are going through the same experience.

Can your brother help in planning for what comes next or does this all fall to you? Is there hospice support in your area? (Quality varies, but a good hospice agency should be able to provide appropriately increasing levels of service, beginning now with counseling and advice. It’s not just for the last 6 months, as it once was.)

I wish you and your brother the best that can be. If my experience might be any help, please send me a message, any time.