GAINESVIILE- Alstrom  Syndrome is a very rare genetic disorder--less than 800 cases have been reported in the world.

 

TV20's Alex de Armas met one woman with Alstrom who has been fighting the disorder for decades and recently received some big help. 

 

After 30 years of fighting her weak heart and lungs, she received a heart and lung transplant--making it much easier to live and share her story.

 

"When you go through any type of surgery like this, it makes you…have a better understanding of what it is to exist and to live," said BJ Helton. "And there's a difference."

 

A difference she knows after recently undergoing a heart and lung transplant.

 

"Anybody can exist and be a vegetable, but you have to want to live to have a desire to do something or you're not going to do it," Helton said.

 

The 30-year-old is among less than a 100 people in the country with Alstrom Syndrome. It's a genetic disorder that causes weakness of the heart and abnormality in the lungs. It can also lead to diabetes, severe deafness and blindness.

 

"Right before the transplant at the hospital, to try to make her walk was very difficult, and she would tell me…I just can't..I just can't go," Mary Register, BJ's mom said. "I would say 'but BJ you have to go, we have to keep going."

    

BJ's older brother and younger sister also had the rare disease. 

 

Rebecca died at eight weeks and Andrew at the age of 29, just two years ago.

 

"After Andrew passed away, she and I kind of bombarded Dr. Pauly's office and said we don't want to wait until it's too late…we don't want to wait until we can't turn it around," Register said.

 

And after two years of waiting to be on the donor list, and just eight weeks on it, BJ received the heart and lung she needed. 

Her immune system is still weak so she wears a mask as protection.

 

BJ's mom says she's really loved by everyone that meets her. Their home is filled with get-well cards. 

 

They seem to be working because just a little over six weeks after her surgery, BJ is out of bed and making plans.

 

"To watch her make plans again is exciting," Register said. 

 

BJ hopes to share her story with others.

 

"My message when I travel is using my experiences to maybe help someone see God's glory and God's love for them. 'And your excited to give your message?' Oh yes! I'm really looking forward to that," said Helton.

 

BJ must continue taking medications for the rest of her life and this can be very expensive.

 

If you are interested in helping BJ, contact the National Foundation for Transplants by visitng http://patients.transplants.org/faf/donorReg/donorPledge.asp?ievent=485635&supid=362650774