Intervista con i riflettori della LGMD

Nome:  William  Età: 62 years old

Paese: Stati Uniti

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

A che età è stata fatta la diagnosi:

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.

Quali sono stati i primi sintomi:

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

Avete altri familiari affetti da LGMD:

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

Quali sono, secondo lei, le maggiori sfide nel vivere con la LGMD:

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

Qual è il suo più grande risultato:

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)

In che modo la LGMD l'ha influenzata nel diventare la persona che persona che siete oggi:

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

Cosa volete che il mondo sappia della 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.

Se la vostra LGMD potesse essere "curata" domani, quale sarebbe la prima cosa che vorreste fare? sarebbe la prima cosa che vorreste fare:

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