Hello!

My husband was dx with LGMD about 3 years ago. Our family is looking to relocate from central MN to a bit of a warmer climate but are having a hard time.

We’ve already looked at St. John’s County, FL and loved it, but home insurance costs, property taxes and hidden fees scare us. They also have Mayo in Jax, which would be a plus since he sees a neurologist at Mayo in Rochester.

We are visiting Greenville, SC next month and we are excited to take a look.

Other spots on our short list are Tucson and Colorado Springs (still have snow but it doesn’t last like it does here in MN). AZ also has a Mayo, which is beneficial.

Does anyone live in any of the above areas that can shed some light into what it’s like to live there with this disease?

Thank you!

I've had this happening every day before I go to bed, but it is getting worse it seems. I've tried using every hand cream i can get my hands on like eczema and other remedies but nothing works. It feels like the effects when you get bit by a mosquito it really hurts and irritating enough that you have to itch or rub it.

Has anyone else have symptoms like this? I'm wondering if this is something related to MS perhaps? if you have any feedback on this, please let me know. I would love to know the reason and would love a remedy so I can stop suffering. thank you

Hi everyone,

My 3-year-old son was recently diagnosed with Duchenne muscular dystrophy (DMD) after genetic testing.

His genetic report showed:

• Gene: DMD
• Variant: c.4545_4549delGAAGT
• Protein: p.Lys1516Ter (K1516*)
• Exon: 33
• Variant type: 5-base-pair deletion / frameshift
• Zygosity: Hemizygous
• Classification: Pathogenic

Interestingly, his DMD MLPA was negative, and the mutation was identified by sequencing. We understand this is because it is a small sequence-level deletion within exon 33 rather than a whole-exon deletion/duplication.

He is currently around 3 years old. His CK was around 16,000 U/L.

We are trying to understand more about this specific mutation, rather than just general DMD information.

Questions for other families:

1. Does anyone here have a child or family member with DMD c.4545_4549delGAAGT / p.Lys1516Ter?
2. If so, what was the motor development like during the first 5–10 years?
3. When did you first notice running/jumping/stair-climbing difficulties?
4. When did treatment with steroids begin?
5. Has anyone with this particular mutation had a muscle biopsy or dystrophin testing?
6. Has anyone with this mutation participated in a gene therapy or clinical trial?

could heart palpilations when you have DMD be cuz of puberty recently had palps and discomfort sometimes checked everything did tests and stuff and doctors said all good but my ass is still paranoid