LGMD "WYWIAD W ŚWIETLE REFLEKTORÓW"

Nazwa:  Natasha  Wiek: 25 years old

Kraj: Stany Zjednoczone

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

W jakim wieku zostałeś zdiagnozowany?:

I was diagnosed at the age of 23.

Jakie były pierwsze objawy?:

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.

Czy masz innych członków rodziny cierpiących na LGMD?

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

Co uważasz za największe wyzwanie w życiu z 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.

Jakie jest twoje największe osiągnięcie?:

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. 

W jaki sposób LGMD wpłynęło na to, że stałeś się osobą, którą jesteś dzisiaj:

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.

Co chciałbyś, aby świat dowiedział się o 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.

Gdyby jutro można było "wyleczyć" chorobę LGMD, co byłoby pierwszą rzeczą, którą chciałbyś zrobić:

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

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