Dylan and Logan
Our sons, Dylan (8) and Logan (6), were diagnosed in March 2015 by CHOP with a rare genetic disorder called MED13L. The long journey to get to this diagnosis was filled with lots of tears, frustration, incredible joy and an amazing bond with our wonderful genetic team. From the start, we knew that our family would be unique but we didn’t realize just how unique until much later.
It was during my first ultrasound that we were told our baby was presenting with various deformities.
Dylan was born at CHOP’s Fetal Center, was diagnosed with a Congenital Diaphragmatic Hernia (CDH) and underwent surgery at one week. We thought the issue was solved and we could move on with our healthy little boy. However, Dylan showed global developmental delays. As new parents we were not sure what was “normal” as far as milestones and initially hoped the delays were due to Dylan’s start in life, as major surgery at one week old can be very difficult on the body. Our physicians told us that the CDH was a “fluke thing,” that we didn’t do anything wrong and it just sometimes happens. So we carried on and loved the heck out of Dylan Maximus (Maximus after the Gladiator) because to us he was a warrior to have fought so hard already in life.
Moving forward, we wanted to peruse our dream of having a big family. We welcomed our second son, Logan Matthew, to the world 22 months after Dylan was born. Once again during early ultrasounds there were indicators of birth defects. This news was devastating to us. Quite frankly this hit us hard. It is difficult to explain, but with Dylan we were numb to what was going on because it was new and unknown but for Logan we were now well aware of the challenges ahead of us to have a child with medical issues.
Logan was born with a Cystic Hygroma and webbed penis. We were incredibly happy to meet our newest son but could not believe that we had another child born with birth defects. Of course we wondered how this could have happened. Our medical team ruled out the obvious concerns that can interfere with a healthy pregnancy. Not being just a fluke thing, our goal became to figure out the reason behind both of our son’s medical abnormalities.
Shortly after Logan was born we met with several CHOP physicians and we were told that there was not a correlation between the CDH and Cystic Hygroma or the developmental delays. Essentially, it was like being hit by lightning twice. When we left that meeting my husband and I looked at each other and said hit by lightning twice …lets go play the lottery! Ryan and I really believe that in times of heartache laughter can be a great way to overcome. Laughter has gotten us through many difficult days. We were not going to overcome this completely without more answers and we knew in our hearts there was something more to this story. We forged ahead and contacted the genetics department at CHOP. Dr. Krantz’s team has worked endlessly to help us find answers. Honestly, two brothers? Multiple medical issues? We knew there must be a link! Dr. Krantz and his team jumped right in and conducted numerous tests, measurements, and collected clinical and developmental information. Several known syndromes were tested for but results were negative. In the summer of 2014 we were asked to partake in the PediSeq Exome Research Study and we were also enrolled in the clinical Exome sequencing. Finally, in March 2016, we received the results from the CHOP PediSeq Exome Research positive for MED13L gene deletion, and those results were confirmed in a clinical lab.
The diagnosis took about 5 years, all while we were desperate for answers and worried sick about the future of our kids. Receiving a diagnosis was an indescribable feeling as it was filled with so many mixed
emotions, including joy, fear and total amazement regarding the science technology and perseverance shown by the genetics team. How could something so rare be discovered? How could both of our boys have it? Even though it took 5 years, we were so grateful to have been given an answer.
MED13L is characterized by intellectual disability, developmental delays, speech problems including being non-verbal, poor muscle tone, behavioral issues, cardiovascular issues, and neurological issues and common facial characteristics. There is a wide range of presentation and severity associated with MED13L. Both of our sons are non-verbal. Dylan and Logan have approximately 50 words that they use on a non-consistent basis. Some of these words I have only heard a handful of times. We are lucky to have received communication devices to help eliminate the frustration of not being able to communicate. However, these devices are a challenge for Dylan and Logan to learn as their intellectual disabilities hinder the learning process.
At the time of our diagnosis we were told there were only about 15 other medically published cases in the world. Only 15 in the world and we have two living under our roof! When we were diagnosed the genetics team recommended that we try to find other families and learn from each other. The genetics team expressed their support to help us in any way that they could and still continue to support our family.
Dylan and Logan both need one-on-one around the clock care which has been a challenge for us as a family. During assessments it has been noted that both boys are developmentally around the age of two years old. Safety is a huge concern for us, as they often escape the house and have no understanding of hazardous situations. For example, they are fearless when it comes to water safety or even something like touching a hot stove. We recently started ABA therapy which has been a tremendous help, especially when having the extra adults being there for one-on-one care. Sadly, only received the ABA therapy as a result of the kids being diagnosed with Autism. It is our hope that one day those diagnosed with MED13L will receive the necessary therapies and medical care/equipment due to their MED13L diagnosis, not just based on an additional diagnosis.
Once again we were in amazement about our “luck,” to have a diagnosis as rare as MED13L. However, having the name “MED13L” gave us the ability to move forward and learn whatever we could. We first searched the NIH's Rare Disease website and when we discovered they didn’t have anything on MED13L we encouraged them to look into it after all how could the NIH not have anything on MED13L? Shortly thereafter MED13L was added as searchable Rare Disease. Since the diagnosis we have been able to connect with families all over the world through Simons VIP Connect and social media.
In the Fall of 2017 we established a 501c3 nonprofit MED13L Foundation. We are committed to provide a means of support for families diagnosed with MED13L and want to help facilitate awareness for MED13L. Dylan and Logan are our love bugs and they have completely changed our perspective on so many things in life. It is truly amazing how challenges in life can actually provide clarity to other things. Some worries in life no longer apply. We cherish every moment deeply like the first time Dylan said his name at the age of 4 or the first time Logan stood on stage with his peers without running off. Sometimes you have to take a leap of faith and that’s what we did when we conceived our daughter in 2015. Maggie Jane was born March 2016 and is healthy and is adored by her brothers.