15q duplication specialist

If you have known the Bloom boys for any length of time, you know that nothing has come super easily.  Both of my older boys went through about five years and many diagnosis before we were able to determine what exactly was the cause of their specific delays and disabilities.  For David it wasn't until we did genetics testing when he was 6 that we determined that he has a duplication on his 15th chromosome.  The good news is that this duplication will not affect his life span or cause him to deteriorate skill wise.  The bad news is that this is a little known duplication, so while it was great that we learned what was wrong, no doctors seemed to have any good answers.....that is until NOW!!!

David and I spent Tuesday and Wednesday in Boston at Massachusetts General Hospital meeting with Dr Thibert who runs the 15Qduplication clinic!  Dr Thibert was wonderful.  He answered my questions, spent time talking with David and made sense of everything.  However, as great as it was to learn from Dr Thibert, it was even better to have time alone with David!

David is the middle child, and compared to Matthew and Jacob, he is very, very quiet.  Actually, compared to most children, David would be qualified as very, very quiet.  As we started driving to Boston Monday night, it was nice to just be with David.  He was funny, and charming.  He had a book full of hotel coupons, so he started the trip looking for hotels for us, he found the Massachusetts portion of the book, and then picked which hotels he liked best.  He would read through which hotels had breakfast and would tell me excitedly why we had to choose those.  He was giddy, and chatty and fabulous to be with!

Then after we stopped for dinner, I made a few calls and finally booked a hotel, David was happy because it had breakfast, and then he helped me find the highway exit where the hotel was located.  As we drove into the parking lot, I wasn't sure it was somewhere I wanted to stay, I don't need the best of the best, but I do prefer to stay in a hotel rather than a motel.  While this was listed as a hotel, it was truly a motel and so as I started to drive out of the parking lot, I heard an amazing voice from the back seat saying, "please don't go, I have to go to bed, I am so tired, don't leave, don't leave".  Well, hotel or motel, when David speaks, I have to listen!   He is a child who uses words very cautiously, so when he says something you know he means it!  We got a hotel room,snuggled in for the night, and had a great night together!  David giggled as he put on pajamas and just seemed to be happy for us to be together.

As we got up in the morning David of course got his pancakes and then we were on the road to see Dr Thibert.  We got stuck in horrendous traffic.  Our appointment was 30 miles from our hotel and it took 2 hours and 15 minutes for us to get to the hospital.  Throughout the entire drive, David just kept telling me how he made the traffic come, and helped me navigate.  When we finally arrived at the doctor's office, David was wonderful while we chatted about him.  The doctor was wonderful.  He listened to the "story of David" and was reassuring as everything I described was similar to so many of the other children he had met. 

After meeting with the doctor, we went to the hospital for a  24 hour EEG.  David and I had talked a lot about what it would be like to get hooked up to the EEG, but he was still nervous.  As the technician came in to hook David up, you could see the tears in his eyes well up, so very sad.  He was a trooper though.  I was amazed when at one point David said, "I want a break".  He is a child who rarely  now tells me he is hungry or thirsty, and struggles to advocate for himself, so to hear that he wanted a break was AMAZING!  I knew we had to honor the request and was amazed at the caring technician who patiently waited as David and I counted to 10 for a break.  She had 29 leads to put on him, and every single time he asked for a break, she obliged and allowed him to be in control of the pace of the procedure.

David and I spent the rest of the day doing puzzles and playing games.  I was so happy when my Aunt came to spend time with us, it can be a LONG day in one room so to have company allowed me to chat with a grown up, and also gave me some time to walk around the hospital, look for some snacks for David, and just take a few moments of time for myself.

Mass General is an incredible hospital!  We have done an overnight EEG at Albany Medical Center 3 times and each time I have left in tears.  The doctors didn't seem to understand David and no one at the hospital took time to get to know David, so when they watched him on the video, the feedback was consistently that he was autistic.  David warms up to people slowly, but once he warms up he enjoys playing games, doing puzzles and being with people.  The entire pediatric staff at Mass General got to know David.  The Life specialists brought him puzzles, and even knew him well enough to know that after his blood was taken that he would love a sponge bob bandaid.  Each of the nurses made sure to spend time with David and loved getting his adorable smile and wave when they entered the room.  Even when the doctors did rounds, it was family centered, so I was an active part of the team rounds, and I was asked my opinion and thoughts as the person who knows David best.  What a wonderful experience.  It is nice to know that there is a hospital that truly puts the needs of parents and children at the forefront of the experience.

As we were packing to leave on Wednesday morning, Dr Thibert came in to tell me about the EEG results.  There is some activity in his temporal lobe which is the speech center that is abnormal, which makes sense because speech and language is a place where David struggles.  David also had some unusual night time brain activity which is affecting his sleep, so the hope is that with improved sleep, his skills will improve.

As we were in the hospital preparing to leave on Wednesday, David wanted to know when Aunt Carol was coming back!  Again, to know David, this is truly amazing!  This means so much to me to know that David loved his time with his Great Aunt.  I promised him that we would see her again soon!

After being discharged, we did a Duck Tour ride- from our hospital room we had spent 2 days watching the duck tour boats, so it only made sense that we HAD to do a duck tour before we left Boston. This was a great special time for David and me to just have a fun experience together.  He seemed to love hearing all about Boston, and enjoyed the entire Duck boat experience.

After the Duck boats it was time to head for home.  Of course, just as we start leaving.....torrential downpour!  From the back seat came the cutest, evilest giggle!  David determined that he is the one who "made it rain!" Every time the rain came and went, the same giggle from the backseat came and a winning smile from the "maker of the rain!"

As we got closer and closer to Albany, David got quiet.  As we got off at the Selkirk exit I looked back and noticed that David looked sad.  I asked if he was ready to see his brothers and again the little tears streamed down his face.  For David and me, these 48 hours alone together were a reminder.....he needs time alone with just me.  It is when his voice is best heard.  It is when the world slows down to a "David pace", and when he gets that little extra snuggle.  I think all children love 1:1 time with a parent, but for a child in a single parent family, this time is that much more important.

This trip to Boston was amazing for so many reasons, but the most important reason was that it was David and mommy time!  Carving out more David and mommy time is so important, and this just reminded me of how a little bit of time, can mean the world to any child (and mom)!