Aaron's Story

On March 30, 2012 Aaron was taken to the eye doctor when strange looking spots were noticed in his eyes.  This was the beginning of a long, difficult road for him and our family.  Aaron began testing  to rule out several conditions that could be causing the issues with his corneas.  After being misdiagnosed by two separate specialists and being told it was an idiopathic (no known cause) condition, it was later discovered that these spots were actually lesions (tumors) in his corneas.  

In July of 2012 Aaron’s main local doctor ordered a bone age study scan when his height dropped to the 3rd percentile for his age.  It was determined that he was not growing and we were referred to a pediatric endocrinologist. 

More testing at this point revealed that Aaron’s pituitary gland in his brain was not functioning and he was diagnosed with Growth Hormone Deficiency, Central Hypothyroidism and Diabetes Insipidus.   He began medications to treat these conditions and will be on medications for the rest of his life.

On August 31, 2012 an MRI was done to determine the cause of the pituitary problems.  More than 20 tumors were discovered throughout Aaron’s brain.  He was then referred to Children’s Oncology Department.

In September 2012 testing began to figure out what these tumors were and what was causing them.  Tests were done to rule out certain cancers and although we were overjoyed when the tests came back negative, we were also devastated to not have answers. 

On September 10 Aaron was seen by a dermatologist to rule out any signs of Melanoma.  A skin biopsy was done which later came back as possible Juvenile Xanthogranuloma, a form of Histiocytosis.  This was the test result that opened the door for other possibilities for diagnosis.

September 18th Aaron underwent a biopsy of the brain.  Complications during surgery resulted in a complete craniotomy and excision and three days in the intensive care unit.  The surgeon told us “I have never seen anything like this”.   Biopsy samples were sent to pathology labs in different parts of the country to do rare tests that are not available in our area, including a lab in Pittsburgh that specializes in Histiocytosis staining. 

Additional full body scans done at this time also revealed lesions in Aaron’s hip bones. 

On September 28, 2012, exactly four weeks from the discovery of the brain tumors and six months from the date we began the search for answers we finally received the official diagnosis.   It’s an extremely rare form of Systemic Juvenile Xanthogranuloma.   Specialists in our area had never treated or even seen a case like Aaron’s so experts in the disease from around the country were consulted and a treatment plan was agreed upon. 

On October 8, 2012 Aaron began chemotherapy at Children’s Hospital in Minneapolis.  They were not able to give us a prognosis.

Updates since diagnosis

In November of 2012 it was discovered that Aaron had lost the majority of his vision in his right eye.  One of the many tumors caused damage to his optic nerve.  Although he has full field of vision in his left eye, the tumors in his corneas have caused damage that resulted in double and triple vision and smearing.  The loss of vision is permanent.    

Aaron also has significant weakness and balance impairment on his right side, and struggles with  fine motor issues.  He receives weekly physical and occupational therapy. 

In November 2012 and February 2013 brain MRIs were done to check Aaron’s progress with chemotherapy.   The tumors were responding well and are shrinking. 

In April 2013 full brain and spine MRI’s, chest, abdomen and pelvis CT scans and full body bone scans were repeated. There was continued progress with the brain and eye tumors but not complete resolvement.  The bone lesions showed no change and were stable.  It was decided that Aaron would continue with another 6 months of chemo but at a lower dose.  His vision continues to change due to the changes in the corneas. 

In June 2013 Neuropsychological testing was completed with results showing neurological delays and cognitive impairments with memory and  language skills. 

July 2013 - After scans of Aaron's brain were completed we were devastated to learn that his tumors were growing on the lower dose chemotherapy.  His treatments were increased.

October 2013 - Aaron's brain tumors continued to grow so he began a very aggressive chemotherapy regimen.   

January 2014 - Scans showed that the tumors were once again resolving, the strong chemotherapy was working. 

April 2014 -  Scans showed COMPLETE TUMOR RESOLVEMENT!   He will continue the aggressive chemotherapy for an additional six months to try to prevent the disease from causing the tumors to come back.  Even one of the world's leading specialist in histiocytosis is going by his 'gut feeling' regarding treatment for Aaron, stating that there is no data to base his treatments off of.  It is unknown if continued chemotherapy will prevent tumors from returning or if extended chemotherapy will reduce the chance of that.

Currently Aaron is still receiving chemotherapy treatments, physical and occupational therapies, he requires frequent visits with different specialists for his eyes and endocrine system, weekly blood tests and frequent MRIs and CT scans.  He takes several medications daily and requires both red cell and platelet transfusions, but regardless of how 'bad' things get for him he's always got a smile on his cute little face. 

June 2014 -  Scans showed a single tumor in Aaron's brain.  It is questionable whether the maintenance chemo is working.  The decision was made to continue with the maintenance dose of chemotherapy for an additional two months and then repeat the MRI scans on September 11th, 2014.  If the tumor continues to grow or there are more found then he will be put on a completely different chemotherapy treatment plan. 

September 2014 - Aaron's scans showed improvement in the new brain tumor but not complete resolvement and so the decision was made to continue chemotherapy but to reduce the dosage further.  Scans will be repeated in December.   In September Aaron was also diagnosed with Postural Orthostatic Tachycardia Syndrome, a dysfunction in his autonomic nervous system.  This effects his blood pressure and heart rate when in an upright position.  Efforts are being made to learn more about this syndrome and how to most effectively help Aaron.  

After a full two years of aggressive chemotherapy, in December 2014 Aaron's scans showed complete resolution of all brain and eye tumors.  His bone tumors are stable and possibly healing.  His eye exam showed no new eye tumors.  We beat the JXG beast this round!  

Because little is known about this disease and how it works, we don't have information on if, and when it could flare up and bring Aaron back to battle.  We do know there is no cure, only 'active' and 'not active'.