Gathering: Chapter Two

Eva and Robert just as focused on
Dr. Koolen as their parents

So we will continue with Thursday afternoon.  I had just picked up Dr. Koolen from the airport and we took him back to the house.  I had asked two different families to come to the house to meet with Dr. Koolen that afternoon for an informal discussion time.  When we all were together, I was noticing that he was so genuine, patient and obviously knowledgeable to any  question that was asked.  His demeanor was so softly spoken yet had everyone's ears of complete undivided attention.  He talked about the differences between KANSL-1 gene, mutations, and deletions.  I found out that children can have only one of these when it comes to a specific diagnosis.  For example, if you have the C17 deletion, you can not also have the KANSL-1 as well.  We all also discussed parental genetic testing.  I was told by our genetic doctor that either Scott or I must be a carrier of this "deformed" gene and that it would be beneficial to do a blood test to see who the carrier was as well as the other girls to make certain for their future family.  We opted not to do the testing and knew that when the girls were old enough to have them be tested.  Dr. Koolen completely trumped that by saying that neither one of us could be a carrier.  It was just a "chance" that this chromosome had the deletion.  He also stated that there is no way possible that the other girls would be a carrier and there is no need to get testing for them.  Here was another wow moment for me that day: It was just before four and the older two were coming into the front door.  Elizabeth entered first.  Dr. Koolen, turned and looked to see who was coming into the door and from his mid-stride genetic sentence he was in stood up, walked toward her, held his hand out and said "Hello Elizabeth, I am Dr. Koolen. It is wonderful to finally meet you in person."  Then Victoria walks in behind her and he also held his hand out and said after she was closed the door, "Victoria, your just as beautiful in person as your are in your pictures, it is so nice to meet you."  Not only did my heart jump a beat but now he had reached my respect for him on a much higher level.  Wow.  Just, Wow.  Our other families left around six and our sitter was here so that we could take Dr. Koolen out for dinner.  He decided on Italian.  Yummy of course. 
Now we're at dinner and I had to just put this out there so I said "OK, enough shop talk, lets just get to know each other".  So, that is what we did.  No medical discussions what so ever.  We learned all about the Netherlands, the size, the culture, the laws of course, more of a compare/contrast between the two countries.  We also found out a little about his family, his hobbies, and of course his favorite is going on holidays.  On thing that sticks with me is that he has never been to Australia.  Maybe one Australian Gathering we could promote it large enough for many families to attend, including Dr. Koolen and his staff.  Dreaming big but it just might happen. 
After dinner we took him to the hotel.  We arrived, walked into the doors and about 30 people from our group was standing in the lobby area.  Some were in awe, others cried, many hugs were exchanged, and finally after introductions and an hour of socializing, Scott and I had to get back to our girls and relieve our sitter.  I know deep down I wanted to stay all night, just get to know so many more families, their children, the siblings.  Find out how parallel our lives really are but, we left, with sore cheeks from laughing and smiling so much and our eyes were completely teared out.  I took the sitter home and went to bed.  Scott and I could not stop talking but we finally gave up.  We had so much adrenaline for what was coming for tomorrow.  Who were we going to meet? How many new families could I introduce to each other? 
To Be Continued...