LGMD "Primer plano"

Nombre:  William  Edad: 62 years old

País: Estados Unidos

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

¿A qué edad le diagnosticaron:

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.

¿Cuáles fueron sus primeros síntomas?:

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

¿Tiene otros familiares que padezcan LGMD?

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

¿Cuáles cree que son los mayores retos de vivir con LGMD:

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

¿Cuál es su mayor logro?:

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)

¿Cómo ha influido la LGMD en la persona persona que eres hoy:

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

¿Qué quiere que el mundo sepa sobre la 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.

Si su LGMD pudiera "curarse" mañana mismo, ¿qué sería lo primero que querrías hacer:

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