Dup15Q

Henry was a surprise baby. When I got pregnant with Henry, we were just starting to open up to friends and family about Calvin's diagnosis of 22Q deletion syndrome. As my pregnancy progressed, big brother Calvin progressed too. I've written updates on all his doctor's appointments, his milestones - always on the late end of normal, but still within the range. As I prepared for the new baby, I hoped/prayed/expected/assumed that he would be the "normal" one. That this new baby brother would be big and strong and have the expected number of chromosomes and genes. I even worried that being so close in age, he might actually surpass Calvin in his development. I prepared myself for the possibility that baby brother would be taller and stronger than Calvin... that they might end up in the same grade if Calvin wasn't ready to start Kindergarten on time...  that baby brother might be the one helping Calvin learn to talk instead of the other way around.

Henry was born big and healthy. He appeared to be doing fine with breastfeeding. Everything seemed as expected.

But after a few weeks, Henry's pediatrician told us he wasn't gaining enough weight. I promised to work with a lactation consultant to make sure breastfeeding was successful, and the pediatrician agreed but also asked to run some blood tests. I don't remember what all the tests were for, but I know one was a genetic screening. Although Calvin has a genetic anomaly, it is just that: an anomaly. James and I have been tested and neither of us has 22Q deletion. So it wasn't even really possible that Calvin's diagnosis had anything to do with Henry. The doctor said she wanted to do the genetic screen because slow weight gain without any other medical problems (like a heart murmur, or trouble breathing... etc.) was a red flag for her. 

Turns out she was right to do that test because the results came back showing that Henry has a tiny extra piece of chromosome 15 in most of his cells. That little extra piece was in 65% of the cells in the blood sample they tested. A little extra piece of chromosome 15 can mean a few different things, so more information was needed. Another blood test that had to be sent to the Mayo Clinic. A few weeks later, those results were in, but it was another few weeks before we could get an appointment with the genetics department to have the results explained to us. 

Those weeks in between the first test result and the appointment with the genetics doctors were very hard. We had this surprising and frightening news, and we were waiting for someone to be able to tell us what it meant. We kept it mostly to ourselves because didn't want to share what we were going through without more information. To add to the difficulty of that time, the weight gain and feeding trouble continued. We struggled to make breastfeeding work, but in the end I had to let it go - again - and resort to formula feeding for my own sanity and for Henry's health. 

When we finally were able to talk to the geneticists, they were able to tell us more about the test results (and clarify some things we'd read while doing our own Googling). If the little extra piece of chromosome 15 comes from paternal DNA, it usually has no effect. Henry's comes from maternal DNA. The doctors said the egg that formed Henry may have had the little extra piece, even if no other cells in my body have it. That is a possible explanation for how Henry ended up with this little extra piece, but it is not certain. When the extra piece of chromosome 15 comes from the mother, there are several possible effects and a range in how severe each effect may be. Possible effects include: slow weight gain (check), hypotonia - low muscle tone (check), some facial features including a button nose and epicanthic folds on the corners of the eyes (check and check), delayed motor skills (check), delayed language, intellectual disability, autism, and seizures. This genetic condition is called 15q duplication syndrome or Dup15q. 

There is a website, http://www.dup15q.org/, with more information including family stories that paint a picture of life for some kids with this genetic syndrome. Honestly, when I read the family stories I kind of broke down. Although there is a spectrum, lots of kids with Dup15q don't walk until they are 2 or 3, or talk until they are 6 or 7. They likely have some degree of intellectual disability. 

We really don't know what this will mean for Henry. Just like Calvin, he will show us what his development will be. 

It was very painful to receive this diagnosis for Henry. It still hurts. I wanted so much for Henry to be blessed with normalcy. I feel guilty even admitting that because I don't want to sound as if I am ungrateful for the blessing that Henry is, just as he is. But it was so unbelieveable, unimaginable, that it would happen to us again. How could we, two normal, healthy, relatively young adults have two babies with genetic disorders? Why us? Why our babies? Why both of them?? 

It's tempting to want things to be fair. To want to believe that there's some balancing element that will make life fair for Calvin and Henry. But I don't think it is fair. Or will be fair. This idea of fairness or unfairness is something I have to let go of. The question of why is also something I have to let go of. Holding on to those things is like holding a grudge. It will only hurt me and hold me back. But the choice to let go is one I will have to make over and over again.

I try not to worry about the future. I choose to let go of my desire to agonize through every worst-case scenario. I stop myself. But in the back of my mind there will always be fear for Henry and Calvin's future. Especially Henry. I know all mothers worry and fear for their children. But not all of them have doctors reading them laundry lists of all the hardships their children are likely to face. I know I'm not the only one. I know there are other moms like me who know what I mean when I say it's not the same.

When Calvin learned to crawl, I breathed a huge sigh of relief. With every milestone he hit, a weight was lifted from my shoulders. He shows me every day that he is learning and growing. He shows me that he is all right. He is not quite like a typically developing 21-month-old, but he is funny and clever and curious and determined and thriving and happy. 

One day, Henry will learn to crawl. He'll hit his milestones in his own time and show us all that he is all right. I think it will take him much longer than Calvin. With his hypotonia, he still has some trouble holding up his head and he is nowhere near able to sit up on his own. He can roll over, but he rarely does it. He scoots a little bit on his belly and usually ends up turning in a circle :) 

Henry's smile lights up the room. And the way he smiles at me like he is so happy to see me brings me so much joy and for that moment all the fears and worries I have are forgotten. Nobody smiles at me like Henry does. I think no one in the world is as happy to see me as he is. And I am so thankful for that sweet, reassuring smile. Right now it is his way of telling me that he is all right. 

I feel like there is more to say, but that's enough for now. I waited to write about Henry's diagnosis because I have been having a hard time coping with it and I just wasn't ready to write about it. It is still hard, but I felt that it was time to share because it is such a relevant part of our life.