LGMD “Spotlight interview”

Name:  William  Age: 62 years old

Country: United States

LGMD Sub-Type:   LGMD D1 DNAJB6-related (Formerly LGMD type 1D)

At what age were you diagnosed:

I was clinically diagnosed at the age of 40 and then 5 years later, at the age of 45, I received genetic confirmation of my LGMD 1D diagnosis.

What were your first symptoms:

As a child I was slow.  Around the age of 45, I experienced difficulty running.

Do you have other family members who have LGMD:

Yes, my brother who is 67 has LGMD1D and so does my daughter.

What do you find to be the greatest challenges in living with LGMD:

The greatest challenge for me has been adjusting to the weakness and having to gradually slow down.

What is your greatest accomplishment:

My greatest accomplishment has been starting the LGMD-1D DNAJB6 Foundation which is a non-profit public foundation whose mission is to maintain a central location for individuals diagnosed with Limb Girdle Muscular Dystrophy type 1D (LGMD1D) to meet, consolidate relevant news, and launch fundraising efforts in order to advance research.  https://lgmd1d.org

I have also established a Patient Registry for all patients diagnosed with an autosomal dominant form of LGMD.  (LGMD type 1)

How has LGMD influenced you into becoming the person you are today:

LGMD has impacted my life and who I am today.  Slowing down has made me appreciate what is around me, family, friends and connects.

What do you want the world to know about LGMD:

We need to continue to spread the word and connecting in ways that aids in a cure.  For instance, an autosomal dominant LGMD (LGMD type 1) patient registry will be vital to research and finding a cure.

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

If I were cured tomorrow, I would go dancing and play soccer with my grandgirls!!