Entry #4

Previously, in the introduction entry, a reference was made in regards to Sunshine Network Blog, Entry #6. Alongside was instructions to keep an eye out for a fallow up regarding the research study that my son and I entered.

Well thankfully, the wait has finally come to an end!

Before continuing, let’s look back on some key details that lead us up to this point. At that time, I had begun researching a rare form of MCC (Multiple Congenital Conjectures Syndrome) that was called Freeman-Sheldon Syndrome. This was because his medical team had been in pursuit to diagnosis him with this abnormality. Basically, my son, his dad, and I had our blood drawn for chromosomal sequencing and were anticipating results.

As anyone could imagine, months of waiting to find answers is not easy. In fact, to add to the discomfort, several weeks before being able to schedule a conference, we had the pleasure of running into Christian’s DNA study team while attending a Special Needs Banquet. Unbelievability, they excitedly proclaimed that they had found something remarkable! My heart began to fall, at that moment.  Suddenly interrupted by the notion that that was all they could say at that time because they were still waiting verification of the results from another medical research facility. Definitely, not what I wanted to hear the weekend before starting school.

..As the days passed I had anxious emotions clouding my mind until they schedule for us to come in last week. It was strange because I had spent almost two years searching for answers about what was happening to my little boy and now that the time had come to find out, I felt like running the opposite direction. Nonetheless, I bit my tongue and I am pleased to share the experience.

On November 3, 2016 Dr. Williams MGC, CGC and Dr. Zvereff MD, PhD, FACMG Identified a rare disorder, newly developed name CLIFFAHDD Syndrome. This sequencing confirmed a mutation of the NALCN protein within my son’s DNA which oddly enough had not been passed on by either parent. Exactly, the reason for it being an extremely rare condition. This meaning that the abnormality formulated before the fetal process ever began. With that, it is apparent that medical technology is not far enough in advance to be able to trace it back to the original misspelling.

Moreover, this syndrome has identically similar symptoms as Freeman-Sheldon Syndrome and is described as being related in some way. Therefore, our first suspected variant was close to being correct. 

Moving towards a closure, it seems relevant to question what it means for my son to carry such a weight on his shoulders. With the consideration that Christian is one out of ten diagnosed since March of 2015, it appears that he is going to be helping create historical values that will define CLIFFAHDD Syndrome for future patients. In addition to the other children, medically directed information will be determined by my son’s milestones, or achievements.