Dr. Appointment in Cincinnati

On Friday, July 23rd, we headed down to Cincinnati, OH to visit a geneticist that came very highly recommended to me. In my field of work, the doctors have referred many children to genetic specialists to confirm or rule out various genetic disorders/syndromes. Since many things with Brandon appear to be a "medical mystery" to many of his doctors, and there has still been no clear answer as to why Brandon has some unusual physical features, I decided to take Brandon to see Dr. Hopkin, a genetic specialist, to see if we could get some answers. I love Brandon with all my heart and do not NEED to know any official diagnosis for why he has certain features, but being a developmental pediatric nurse I understand the benefits to research, and also how sometimes finding out more information can help parents help their children. As Brandon continues to grow and develop, I want to be able to provide him with any resources he might need to make his journey easier and more prosperous. This visit was just one more step in that process...

After a 3 1/2 hour drive we finally arrived...Brandon was acting silly in the waiting room.

Thumbs up...so far so good. Brandon was in great spirits and did very well considering the long drive and lengthy visit.

Playing with mommy as we wait in the exam room.

Finding ways to pass the time...

The doctor came in shortly after Brandon was hiding in the cabinet. Dr. Hopkin was so friendly. He greeted Brandon and kneeled down to listen to his heart and check him out as Brandon continued sitting inside the cabinet.

A little R&R after a long day. We decided it would be best to stay in a hotel that night and drive home the next day.

So...here's what we know so far. After the doctor had reviewed Brandon's history he thought of a syndrome called Opitz syndrome. He thought Brandon might qualify for this based on his reported features. After having laid eyes on Brandon, the doctor said he was shifting his thoughts towards a different syndrome called Aarskog syndrome. Brandon has very short, pudgy fingers and toes, in addition to other features which are present in this particular syndrome. Cleft lip and palate are sometimes associated with syndromes and sometimes not. Nothing has been decided. The doctor took some pictures of Brandon and will meet with his team to share and discuss further. Afterwards he will order an extensive genetic blood test to see if any specific markers show up. It is possible Brandon has one of these suspected syndromes or none. It is also possible he has something that has not yet been discovered. Regardless, those findings are more beneficial for the genetics team and their research. Whatever the outcome, it won't change who our little guy is. I love EVERYTHING about him, including his pudgy, short fingers and toes. We will continue to love, talk, read, and play with him daily...stimulating him developmentally.