There are only two ways to live your life. One is as though nothing is a miracle. The other is as though everything is a miracle.” (Albert Einstein)
I begin with this quote because that is how I feel about Chris’s life. It is so easy to get caught up in the roadblocks rather than focusing on the amazing miracles that have been placed in our path.
Chris was born 4 lbs 4 oz and from the start Jeff and I knew something was not quite right. He had low blood sugar at birth, was hypotonic, and had feeding difficulties. When he was discharged from the NICU, we began a long, confusing journey. He was not growing and had frequent emesis. He was treated for reflux which didn’t resolve the feeding problems.
We were referred to a geneticist early on who pointed out that he had several dysmorphic features including clinodactyly, simian crease, bilateral dimples on his shoulders, downturned “fish” mouth, high palate, low tone and reflux. After many visits to specialists and unanswered questions, we began to worry as he was only 12 pounds at one year old. It was during that year after a 4 day hospitalization in the PICU that he had a gastrostomy tube placed to supplement his growth. This actually gave us some relief because all we were doing was feeding him and trying to get him to eat more.
Despite the feeding tube, the reason behind his lack of growth was baffling. I spent many sleepless nights researching what condition he could have. We had some doctors mention primordial dwarfism, progeria, and just small for gestational age.
We started food therapy because he had sensory issues and an aversion to food. At the same time we had Physical and Speech Therapy because his speech was delayed.
I reached out to the MAGIC (major aspects of growth in children) foundation and we flew to the convention in Chicago when Chris was 3 years old. Even though he did not have the obvious asymmetry that typically comes with Russell-Silver syndrome, it was there he was diagnosed by Dr. Harbison. We were relieved. We had answers!
After Chicago, we saw an endocrinologist who placed him on growth hormone shots daily. He began to grow and respond to the growth hormone.
As he grew, he began to meet more developmental milestones and we were only dealing with frequent ear infections and some crowded teeth.
He is no longer tiny, has grown out of the dysmorphic features, and is on the chart (upper level-actually chubby!). He looks like a different kid. He has had 7 sets of ear tubes and was treated for precocious puberty at the age of 9. Sometimes I wonder “does he really have Russell Silver? Was he misdiagnosed?” I’ve been told many parents feel this way about Russell-Silver Syndrome when the usual features and symptoms become softer with time.
I have gone from people literally stopping me in the grocery line asking me what’s wrong with my child or if I am feeding him to friends and family now saying “He looks normal! Nothing is wrong with him!”
About a year ago he started having “choking” episodes..food getting stuck. He was scoped and diagnosed with Eosinophilic Esophagitis. A severe form of food allergy when the esophageal cells attack the esophagus. He has been taken off egg, dairy, wheat, fish, shellfish, nuts and tree nut. He is on scope #3 and is trying out soy. It will be a long road and is another facet to his journey. Once we are able to find out what he is allergic to, we will be able to avoid just that food group (s).
Is this new diagnosis related to Russell-Silver Syndrome? We do not know.
That is our story. It has been a long road, but I would not trade it for anything. Chris has taught us more than we ever knew possible about adversity, resilience and humor.