Mid-Atlantic Regional Coordinator

Oh, man!  What is our story? I have been writing this in my head for a long time: A very long time! I was pregnant with my second child. My first would be 10 years old when the second one came. I would have 2 girls: Sisters. Wonderful stuff! I was 37 years old and thus sent the maternal-fetal specialist. He gave us TONS of extra appointments and ultra-sounds due to my “advanced maternal age.” Somewhere between 3 months and 6 months along he started mentioning and kept mentioning that the baby was small. I would smile and reply that “I was no Sheryl Swoopes.” He would leave it at that. Then he mentioned at one appointment that I really should have an amnio to see if everything was alright. I said I was having the baby either way (whether everything was “alright” or not) so I did not need an amnio. I was scared of the risks and did not need the info. At a follow up appointment I was informed that I was nearing the end of time for my options. I did not KNOW what that meant. Pregnant = delivery in my mind. He said I could still legally terminate the baby!  He said that to me. He really did. I liked him up till then.  Wow, I was a wreck, a mess, distraught…. I said, “No!” Ian was with me at the appointment. I did not consult him. I just said no. After the appointment in the car, I did think to ask him what he thought. But I was very clear that the answer was no. This was my baby, my daughter, my child. She was already part of me. She would be born and we would love her and life would be good. 

Well, those things did happen. But with a twist (or a few twists). Irene McKay had a mind of her own even before delivery. She arrived at week 31 versus 38-40 as is the norm. She was so tiny. She weighed in at 2.2 pounds, she was 14” and she was “floppy.” Well, all of this means immediate chromosome testing. I did not know. I was recovering from the emergency C-section that was her birth. Ian agreed to the testing. 

On day 4 of life, as I was facing a morning discharge to a hotel because we sold our house on day 2 of life to prepare for our move to a new state, I was informed of the test results. It was brutal. I was alone with my mother. Ian was across DC tending to moving details. My mother could not hear the soft-spoken doctor who had a terrible habit of smiling and nodding as she spoke. Those communication habits did not convey the emotions of the information being delivered. I LOST IT! Then, my mom knew something was up! The doctor told me “Your baby has chromosome 18p deletion syndrome." She gave me lists with percentages of challenges (a very OLD list); she gave me medical articles (very OLD articles); and then she told me I might need to cry about this. 

Husband arrived.  We called the OB/GYN, and she called the NICU doctor back to work…My diagnosis was at close of business on Friday… We/I had the NICU doctor go over everything again. I ticked off solutions for each challenge---no hair, wig, etc. Would make a great denial video…. 

Saw genetic counselor the following week. She was more supportive but not too much more informative. No one we met knew about chromosome 18 of any kind. Basically we had this diagnosis with, "Your child won’t, can’t, probably won’t. And a we just had to wait and see diagnosis. AND, it did not even have a REAL NAME! That part really hit me HARD. Odd thing, but I wanted a name. And I wanted answers, not just percentages of won't talk, walk, eat, etc. 

A friend of mine found the Registry online. She connected us. Ian found Catherine Burzio. She saved my life. She had a house full of 4 active kids and spent over an hour on the phone with us anyway. We asked everything. And Catherine answered everything with wisdom and grace. 

It took me 2 years before I was ready to re-connect and reach out to the registry. But, again, Kristi Street spent forever on the phone with me. Deb Yocum talked me down too. There was lots of love and understanding and support from people who “knew”, who “got it.” Thank you all. 

Then, I was brave enough to log on to the support email list. WOW.  Saved me again and again and again. Not enough words to thank you all for your understanding, support, encouragement and downright cheerleading. THANKS does not seem to cut it: But, thanks is all I have. And HUGS! 

Fast forward to today. She is 7 and ¾ years old. She is in her neighborhood school. She is reading and doing math on grade level. She is fall first grade level versus spring first grade level, but she is on grade level! Hooray! She can talk and talk and talk. She even played April Fool’s Jokes this year. She can walk, jump, climb, ride her trike, ride a scooter, and hop. She is learning to jump rope and skip. She loves to sing and dance and play pretend. She loves people, reading, playing Miracle League Baseball, and going, going, going. She loves to eat and is recovering from her feeding disorder. She loves her therapists and they love her. She loves her doctors too, all 9 of them. She is medically stable. She is gaining weight and growing. She loves and torments her sister who does the same for her. It is/has been a different kind of journey. But there is and has been much joy and delight. We love her and are so happy she is here. And, we are all better because of having her in our lives. 

So glad you are reading this and I hope it is a good day in your house. Hugs, Susan Moran