LGMD "SPOT IŞIĞI RÖPORTAJI"

İsim:  Natasha  Yaş: 25 years old

Ülke: Birleşik Devletler

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

Kaç yaşında teşhis konuldu?:

I was diagnosed at the age of 23.

İlk belirtileriniz neydi?:

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.

LGMD hastası olan başka aile üyeleriniz var mı?

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

En büyük zorluklar olarak neleri görüyorsunuz? LGMD ile yaşamda:

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.

En büyük başarınız nedir?:

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. 

LGMD sizi nasıl etkiledi? Bugün olduğun kişi:

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.

Dünyanın LGMD hakkında ne bilmesini istersiniz?:

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.

LGMD hastalığınız yarın "tedavi" edilebilseydi, ne olurdu? yapmak isteyeceğiniz ilk şey:

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

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Daha fazla "LGMD Spotlight Röportajı" okumak veya gelecek bir röportajda yer almak için gönüllü olmak için lütfen web sitemizi ziyaret edin: https://www.lgmd-info.org/spotlight-interviews