LGMD "SPOTLIGHT INTERVIEW"

Name:  Natasha  Alter: 25 years old

Land: Vereinigte Staaten

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

In welchem Alter wurde bei Ihnen die Diagnose gestellt?:

I was diagnosed at the age of 23.

Was waren Ihre ersten Symptome?:

Our subtype is late onset so I currently have no symptoms although growing up there were small things that make more sense now that I know of my diagnosis.  Growing up, I couldn’t run as fast as my peers and I had trouble in dance getting up from the ground without using my hands, as example.

Haben Sie andere Familienmitglieder, die LGMD haben?

Yes, my dad, uncle (on my dad’s side of the family) and my paternal grandfather all have the same diagnosis.

Was sind für Sie die größten Herausforderungen im Leben mit LGMD:

The greatest challenge for me has been knowing that one day my mobility will be less than it is now and that I may not be able to continue leading the active lifestyle that I currently like to lead.

Was ist Ihre größte Errungenschaft?:

I am not sure of my greatest accomplishment…I’d have to say the familial and friendship bonds I’ve maintained.  Plus the community we have and are building for the dominant forms of LGMD  through 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  We have also established a Patient Registry for all patients diagnosed with an autosomal dominant form of LGMD. 

Wie hat LGMD Sie zu der Person gemacht, die Sie heute sind? Person, die Sie heute sind:

I find myself always thinking of the future, how my actions now will impact my body, the people I love and the family I hope to raise.  It’s made me wake on my patience and try to lead a less physically intense lifestyle.

Was möchten Sie der Welt über LGMD mitteilen?:

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.

Wenn Ihre LGMD morgen "geheilt" werden könnte, was wäre das Erste, was Sie tun würden, um:

If I were cured tomorrow, I would go dancing to celebrate!!

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