3q29 Awareness Day

He’s beautifully 3q29

Our journey with a child born with 3q29 deletion is similar to many of the families diagnosed in the early days prior to the discovery of the deletion. Our son was born with relatively no complications or indications of chromosome disorder. However, there were things that we noticed as parents over the course of the first year of life that were just different. He was a small baby, did not have a vigorous suck, and had very soft connective tissue. In fact, his ears folded completely over like a puppy dog.  He was not rolling over at 10 months and began missing many other milestones, such as standing, walking, and first words. Our pediatrician was not concerned, though, because he did meet milestones within normal limits, just late. It was not until we requested genetics testing, that our pediatrician agreed, but stated he did not think we would find anything. Our son was tested for the first time at two years of age and they did not find the deletion.

Our son continued to display behaviors we now know are typical of a child with 3q29 deletion. While he was developmentally delayed, the most difficult part of the condition was the challenging behaviors. Our son would scream uncontrollably in the grocery store, spend hours looking toys, or fishing lures, or figurines in the store. Any attempt to redirect his attention was met with tantrums, screaming, cussing, and running away. It became difficult to take our son anywhere other than school. Despite not having a 3q29 diagnosis, our son was diagnosed with ADHD, speech delay, and eventually, intellectual disability. It was these diagnoses that allowed him to receive speech therapy, occupational therapy, and receive full special education services, and as a result, our son flourished. Our son learned to talk, hold a pencil, and read. His teacher, my hero, taught my baby to read and our son’s world changed. He read and talked nonstop.

And then, at a follow up appointment at the geneticist, they decided to retest our son as there were improvements in genetics testing. At seven, we discovered the root of all of these symptoms and struggles, 3q29 deletion. The physical symptoms and the behaviors all now made sense. This diagnosis, however, did not change who our son was or how he would continue to flourish. He is now 19 and still reads and talks nonstop. This year he was on the spirit squad at school running the flags at football games. He will go to prom and graduate in June. While he will not attend college or live independently, he uses a computer better than most adults, knows more about Texas history than anyone I know, and loves people and life with the greatest intensity. Yes, we have a diagnosis now, a place to put all of these “symptoms”, but he is still our son, and yes, he’s beautifully 3q29.

The month of February was a busy month- it was CHD awareness month in addition to World Rare Disease Day.  For the last several years I have participated in spreading CHD awareness through social media posts and telling my families story.  I have mostly focused on my son’s heart defect in the telling of that story- but one piece of the story that I usually mention – but do not go into as much detail is the fact that he was also born with a rare chromosomal disorder called 3q29 deletion syndrome.  The story of 3q29 is often overlooked because most people have never heard of it and when we found out about it – there was not much information about it. 

However, in the past few years- we are finally learning more and more- thanks to a very dedicated group of parents as well as the researchers from Emory University.  I have always had a gut feeling that the research was going to find a connection between heart defects, autism, and 3q29- and the research that Emory University i conducting is finally showing that maybe my gut feeling was correct!

To fully understand why I feel so strongly about this connection I must tell you a little about our story.  

Almost 12 years ago I was pregnant with my first born child.  My pregnancy seemed to be going along well- I went to all of my prenatal check ups, had all of my scheduled ultrasounds, and I honestly thought that I was going to delivery a health boy.  But – at 35 1/2 weeks when my water broke – my seemingly perfect pregnancy came to a halt.  When I went to the hospital to deliver, the nurses hooked me up to the monitors and my son’s heart rate was over 300 beats per minute.  They rushed me in for an emergency C-section and after they delivered my son they told me he was born with a heart defect called Hypoplastic Right Ventricle.  They also told me that children born with this particular defect would require 3 open heart surgeries to correct it.  As you can imagine- I was devastated!  The interesting thing was at that time, they conducted genetic testing and they told me that his heart defect was not caused by any chromosomal abnormalities.  

During his first year of life- My child spent the majority of his time in the hospital.  He had many complications and had a very hard time recovering from his first two open heart surgeries.  He also had feeding problems and ended up receiving a g-tube for feeding.  He had that feeding tube until age 5.

Once he was about 2 1/2 years old, we had a very astute pediatrician who wanted us to go see a geneticist.  My child was not meeting his developmental milestones, had some subtle concerning facial features,  could not talk, and could barely even walk at that time.  I questioned that pediatrician because I figured when they did the testing in the hospital – the results could not be wrong.  However, I was informed that during that short time, some major improvements had been made to genetic testing and that we should have it checked again.  So I did. 

About a month after our first visit with the geneticist, the results were in- my son had 3q29 deletion syndrome.  I was completely shocked!  But- what was even more shocking was that at that time, I was told the doctor only knew of about 10 cases in the world and that there was very little information about the syndrome.  The last thing she said to me was that as a parent of a child with a rare disease- I would soon become the expert and know more than most doctors about it.  To tell you the truth- that was a really hard thing to hear.  I wanted my doctor to tell me what to expect and prepare for and she had no answers for me.  I was at a loss- at least when my son was diagnosed with his heart defect the doctors had a lot of information to give me- which helped me prepare for the journey.  But with this- not having those details was a tough pill to swallow.  It was also around this same time that we got a third diagnosis of Autism.   The good news about that was that there were a ton of therapies and resources available to support us with his autism diagnosis.  

Because of the lack of information about 3q29 – I felt the best thing I could do was to get every early intervention service available to me –  and that is what I did!   My son had OT, PT, Speech, and ABA therapies.  It was a full schedule but worth every amount of time invested because we finally watched him walk, talk, and not have as many tantrums.

As I reflect on our 3q29 journey- it amazes me that there is now a facebook group with over 150 families affected from all over the world.  The similarities in our children are remarkable!  There is a common thread amongst the children and for once – I do not feel so alone- there are developmental delays, severe anxiety issues, autism diagnosis, heart defects, eye problems, learning difficulties, and feeding and eating issues.  And EVERY SINGLE ONE of these affects my son.  All of these issues are difficult  to handle- but there is always strength in numbers!  

Despite some of the difficulties of this journey – I can say that my son is doing way better than his doctors imagined!  He now can run, hop, and skip- enjoys playing with peers- has developed friendships- and despite his articulation problems- almost everyone understands him.  Although children with a heart defect are never “fixed’ – his heart is doing well and he only has one procedure on the horizon.  I am excited for the future- and to finally learn more about 3q29 deletion syndrome.  

The fact that Emory University has been studying this syndrome and has received a significant grant to help understand its effects makes me eternally happy and grateful.  What we do know is that there is a common thread of learning disorders, anxiety, developmental delay, autism, and heart defects- I just cannot wait to have the science to back it all up!  My hope is that the funding continues for this very important research and that families that are newly diagnosed are provided with significantly more information than we had in the past!