Medical Dx and Anomalies

The most common question we get from medical professional and people that work with Elias is, "did we know there would be problems prenatally?" The answer is yes we did! We were informed of most of the anomalies at our 20 week ultrasound. To learn more about that day you may visit here.
From the day Elias was born doctors have said how medically complex he is. FA researchers and doctor have commented on how unique his presentation is. Below is a basic list of congenital birth defects and medical diagnosis Elias has identified with. 

  • Fanconi Anemia (Main Overall Diagnosis)
  • Bilateral Absent Radii
  • Bilateral Absent Thumbs
  • Bilateral Clubbed Wrist
  • Atretic Ear Canal (Right)
  • Stenotic Ear Canal (Left)
  • Hearing Loss (Central Hearing Loss Suspected based on lack of response)
  • Tracheomalacia
  • Bronchomalacia
  • Tracheoesophageal Fistula
  • GERD
  • Imperforate Anus (PSARP -pull-thru, stage 2 failed colostomy take down)
  • Ectopic Kidney
  • Vesicoureteral Reflux
  • Hypospadias
  • Bicuspid Aortic Valve
  • VSD (resolved)
  • PDA (resolved)
  • Right-sided Aortic Arch**
  • Aberrant left subclavian artery**
  • Hypogammaglobulinemia (receives frequent IVIG infusion therapy) 
  • Seizure Activity (unexplained, prolonged, & unresponsive to rescue drugs)
**Right-sided Aortic Arch & Aberrant left subclavian artery created a vascular ring around the trachea causing compression of Elias windpipe and creating the tenuous airway he now has. Dissection of this ring had hopes of releasing and improving the compression. It was not successful.

He has the following appliances in place on his body:
  • Tracheostomy (PT vent dependent, overnight)
  • Gastrostomy Tube referred to as the G-Tube (aka feeding tube)
  • Colostomy - failed to reverse the first one. new one placed Nov 2010.
  • Central Venus Catheter (aka Central Line or CVC Line)
He has over 30 surgeries to date including 6 hours of life-saving surgery at less than 36 hours old. He will at some point require a Bone Marrow Transplant and is at a much more significant risk for certain cancers.

***More information & links coming soon!***

We appreciate you reading and following Elias' journey.