Ryan - Age 5 Ryan at Minerva Terrace, Yellowstone National Park, Wyoming - Summer 2007

IDEAS - Duplication 15 Syndrome

Our family history is mostly normal with nothing to be concerned about.  Our first child, Andy, was born in 2000 and is now about to turn 6.  He has never had any problems developmentally.  Our second child Ryan was born in 2002 and was mildly delayed in all areas during his first year but was mostly within the low-normal range so nobody suspected anything, although in hindsight I always sort of knew something was different about him.  During his second year it became more and more apparent that he was way behind the developmental charts and we started Early Childhood Intervention (weekly therapy) at age 13 months.  But before his second birthday, our Pediatrician and also the Neurologist we'd been seeing still thought he was fine.  We were thinking of having another baby (we really wanted a girl!) so we asked the Neurologist and also the Geneticist that worked in his office whether there was anything to be concerned about or tested for before trying for another baby.  Both said no, everything is fine, and even if it's not fine, there's practically no chance that it could be genetic due to Ryan's normal physical appearance and our lack of any sigificant family history.  We really wanted that to be true since we really wanted another baby.  In the back of my mind, and this is hard to admit, but I thought it was irresponsible to have another baby if there indeed was something genetic, so I thought to myself, "better hurry up and have another one before we know better."  Well anyways, by the time Ryan turned 2 years in February of 2004, I was 7 months pregnant with our third child.  At that point the Neurologist said "It's not normal that he's 2 and still not talking, so we need to do a MRI, EEG and Genetic workup."  He told us that in all liklihood, none of these tests would turn up anything and not to worry about it.  But lo and behold, after waiting a month (I guess it takes that long for the genetic testing at the lab) we were told that Ryan has duplicated material on the proximal long arm of chromosome 15, from 15q11.2 to 15q12.  We were told that since it doesn't go through the Prader-Willi Anglemann Critical Region (PWACR) that it was insignificant.  My research on the internet yielded very little, but I did find the www.idic15.org web site and that was enough for me to know that it completely explains all of Ryan's delays and other unusual characteristics.  This was a few days before my scheduled C-section so it was a very rough time.  My parents also went through a divorce during this time which was added stress.  It was also around this time that, as a matter of course, they recommended that my husband and I be tested, but they told us that in the vast majority of cases, the mutation is "de novo" and arose our of nowhere so there was no reason to fear for our soon-to-arrive baby girl.

Anyways, Katelyn was born in April of 2004 and immidiately the first time I held her I saw that her facial characteristics were just like Ryan's.  There was a hint of abnormal eye and nose, but newborns all look funny so it was nothing significant.    But when she was 2 weeks old she was so bright-eyed and normal that I was really thinking everything was fine.  I got the test results back on myself and my husband and was completely in a state of shock and grief when I saw that I was a carrier.  I had already read all the literature that says that when a mother is a carrier, there is a 50/50 chance that each child will be affected, whereas when passed from the father it is silent.  And I knew that Katelyn looked just like Ryan (but so do lots of siblings, right?)  But she was so bright-eyed, and Ryan had been a sleepy, blah kind of baby.  We couldn't stand to not know, hanging on every milestone, so we had blood drawn from her at 2 weeks of age.  

By the time she was 6 weeks old, she was as on track as much as a young baby can be and I was feeling like we were lucky, we had played Russian Roulette and won.  Then her test results came back that she also has dup 15q11.2-12.  I think those days that followed were the darkest of my life.  I had not just 1 severely handicapped child, but 2.  That was not what I wanted for Andy, our oldest, when we went for that third child!  I had thought to myself, "if anything is wrong with Ryan, God forbid, at least Andy will have another sibling to help him care for Ryan when they are grown and my husband and I are gone."  But instead we had given him 2 disabled siblings.  It was a very hard time.  All I can say is that time is a great healer.  The pain never goes away, but it takes a backseat to continuing on with life.  Plus, having 3 kids made us so busy we didn't really have time to grieve like we should.

But, since that time our story has a positive twist.  For reasons I don't yet understand (nor do the researchers like Dr. Schanen or the Duke University team, the 2 studies we've participated in through IDEAS) Katelyn has developed normally.  Not only normally, but ahead of schedule!  I think God knew we needed to have a gifted child after having Ryan, or something, because Katelyn coult take steps at 7 months, walked at 8.5 months and talked well at her first birthday -- now she's going on 2 and can carry on conversations with us, name colors, animals, body parts, remember tiny details, follow 2-step instructions, you name it!  Incidentally, we had Andy (the oldest) tested and his karyotpye is normal.  The only thing to worry about for Katelyn is that when she grows up, she will need to concieve via In Vitro Fertilization (IVF) so that the "normal" eggs can be seperated out from the ones with the duplication, and we can halt this genetic mutation in our family tree.  But the technology for this is already available so I am sure that it will be more mainstream when she grows up.

We also went ahead and alerted my family so my Dad and his 2 brothers were all tested.  It turns out that my Dad and one of his brothers carries the duplication, and the third brother has a nonspecific abnormality in the region.  Of course they aren't having babies so they didn't need to know from that standpoint, BUT, my uncle's son, my cousin and his wife were trying to concieve at the time, so they were alerted and put their plans on hold until he could be tested -- and both of my cousins are normal, thankfully!  My grandparents are deceased and can't be tested, but we know that one of them carried it since 2 of their 3 children have it.  My dad's mother was somewhat of an Obsessive-Compulsive personality, and didn't relate to people very well, sort of Asperger's-like.  I suspect my Dad and his brothers inherited the duplication from her just based on personality, since I had read somewhere that carrier mothers sometimes have anxiety-related disorders, but I'll never know for sure.  My Dad's middle brother is very intelligent and successful in his career as a lawyer.  My Dad is a little OCD bur otherwise intelligent and also a successful lawyer.  Their youngest brother dabbled in drugs and alcohol as a teen and in his 20's, suffered a head injury in his 30's, and has been living in a group home due to the head injury.  He has since been diagnosed with OCD and Bipolar, which of course did not arise from the head injury or the drugs/alcohol.  I think that he always had mental problems, which lead to the drugs and alcohol, not the other way around.  But his IQ is fine, and before his head injury he worked as a Heat/AC Repairman and had a normal life, albeit a bit on the "wild side."

So, here is my theory, and it's just my opinion, but here goes:  I think that when passed from the father, this duplication is silent (like the researchers say.)  But when passed from the mother, I think it is highly, highly variable.  This would explain why my dad and uncles have some of the personality traits but have developed normally and had normal lives otherwise.  It would also explain why 2 of my children have the exact same karotype, yet 1 is affected and the other is normal.  I don't think it matters from a genetic standpoint that Katelyn is female and Ryan is male.

I also think that there are far more of us carrier-moms out there than we know about.  It's just that so many times, when Developmental Delay or Autism are diagnosed, in the absence of unusual physical characteristics, Genetic testing is not done because a Genetic cause is never suspected -- that, and it's an expensive test so you would have to have good insurance to even get it done.  More research continues to be done all the time, so I believe that eventually we will fully understand Duplicatoin 15 Syndrome but probably not before our kids grow up.