Wally was born at 34 weeks October 16th, 2014. He was diagnosed with Syndrome Cantú at four months old.

In early 2016, genetic results came from Holland. Wally has a new mutation in the gene ABCC9 called p.V1490E, which has not been registered in anyone else so far. It is one of the 100 documented cases in the world with this syndrome, and the only one in Argentina. Last June we traveled to Washington University in Saint Louis to participate in the annual clinics that perform with patients suffering Cantú to include Wally in research and collaborate so they can find more patients like him.

Suspicions that led to them to think Congenital Hypertrichosis Cantú were:

  • dysmorphic craniofacial abnormalities with macroglosia skeletal radiology
  • mild osteopenia with widening of the metaphyses
  • delayed bone age
  • elongated sella and skull base verticalized
  • wide ribs
  • impaired cardio-torácica relationship
  • DAP associated with cardiomegaly, pulmonary hypertension and pyloric cardiomiopatía
  • Hipertrofia operated
  • Tortuosity of the vessels of the retina at the back of an eye.

Currently, Wally has a tracheostomy but without oxygen dependency, we have home care and he is followed by the endocrinologist, cardiologist, pulmonologist, orthopedist, geneticist, immunologist (Wally has no defenses so he gets a dose of gamma globulin weekly), neurologist, pediatrician, physiotherapists (he has two daily sessions of respiratory kinesiology seven days a week for lung broncodisplacia), speech therapist and early stimulation.

We are hoping that research in Saint Louis will finally reveal a medication that can be used to treat impaired potassium channels, the main cause of all disorder that causes multiple organ Cantú. Our advice to other patients is to not stop investigating, to look, there is always another way and someone out there who could know more.

Our government has helped us a lot, and they are available to Wally so that he can move forward in the investigation and possible treatment for Cantú.

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