Andy and Tyra were a young couple in love. Just starting off…a new home and soon to be new parents. With only a month left until the baby was born, Tyra found herself experiencing severe labor pains. Andy and Tyra went straight to the ER only to have their lives thrown into a whirlwind of chaos. Here are a list of some of her personal symptoms and a brief version of the path of Ellayna took to get a final diagnosis.

Some of the symptoms she showed over time:

The doctor gave her a shot to calm down the labor and at the request of Andy, the doctor eventually pulled out the ultrasound to check on the baby. With a shocked look, the doctor ordered an immediate C-Section.

Ellayna was born, 6 lbs, 8 ounces, with several deformaties. Some of her toes were fused together, one leg was bigger and longer, her skin had purplish discoloration…almost like a checkered board design. As the doctors struggled to find out what was wrong, Ellayna’s lung collapsed. Once stabilized, she remained in the neonatal intensive care unit. All the tests they were running, continued to come back normal.

After 10 days, the doctors finally think they have the answer…Klippel-Trenaunay syndrome (KTS), an incurable genetic disorder where the blood and lymphatic vessels grow uncontrollably which would explain the purplish skin, the fused toes and enlarged limbs. In some cases, heart failure can occur as well as eventual amputation of her leg once it grew too large. Two weeks after her birth, she was stabilized and able to go home.

Around the age of 6 months they noticed she wasn’t able to sit up right due to her larger leg. Their family doctor recommended physical therapy.

Her doctors were involved with NOVA (National Organization Vascular Anomalies) and suggested they take her to the medical convention. Finding other families like them was comforting. The doctors examined each child and informed them that Ellayna did not has KTS; the purplish marbling wasn’t typical of KTS.

The doctors suggested to take her to the Cleveland Clinic which does a lot of genetic work. There they met Dr. Rocio T. Moran, the director of general genetics clinics. After running several tests, the family went home and awaited the results. After 2 months, Ellayna was finally diagnosed.

Final Diagnosis:

Proteus Syndrome- an extremely rare genetic disorder in which parts of the body mature abnormally. In healthy people, genes act as a set of instructions to tell our body when to grow and function. Patients with this syndrome have genes that malfunction causing unusual development. Typically the overgrowth is asymmetrical, skin lesions associated with abnormalities of the blood vessels veins or arteries.

What is ahead for her:

With only around 200 people in the world with Proteus, there is no cure at this time. The physical deformities caused by the syndrome are difficult for patients to deal with. This is the same disease that affected Joesph Merrick, the subject of the well-know film, Elephant Man.

This disease is unpredictable and parts of Ellayna’s body will continue to grow, including her internal organs. Eventually, she may need to have her leg amputated. In addition, she is at risk for blood clots which could cause a fatal pulmonary embolism.

It is important the doctors keep close tabs on her and that Ellayna continue her physical therapy.

At the age of 6, Ellayna is a happy kid…experiencing all that she can. A combination of physical therapy, balance therapy where she rides a horse and great doctors, Ellayna is even able to take tap dancing. With such a loving family and great doctors, Ellayna has the support group out there.