Our happy and sweet-spirited son, Ben, was around age three when we realized he had developmental delays. We needed to figure out why it was happening, and then from there, figure out what we needed to do.
Our healthcare providers kept giving me small answers, basically ascribing all of his many developmental delays to things that they thought were explainable, but we knew those explanations weren’t right. Ben would get a diagnosis like autism or apraxia or global apraxia, and then six months later he would have developed enough in one aspect that they would take away one of those diagnoses.
We got on a waiting list for a genetics clinic, which was going to be a year to year and a half wait! We accepted that’s how it was until we researched other options. We found the cheek swab laboratory and got our answer! We spoke with a genetic counselor and she said Ben’s testing showed 22q11 deletion syndrome then explained what it was (a deletion on chromosome 22), what comes with it, what we could do next for his healthcare. It was like angels coming down from heaven, helping us when we didn’t know what to do!
Two days later we were getting him checked for all of the things that come with 22q11 deletion syndrome. The cardiologist had me in the office the next day (based on having 22q11 deletion syndrome), and Ben had a defect in his heart that required surgery. This whole process has been almost unreal - how fast it’s been, how smooth it’s been. It’s been a Godsend for us. Don’t be afraid to know what’s causing it. You’ll always be able to treat the symptoms, but knowing what is causing it is invaluable, it’s priceless, and it probably saved his life.
Kadi and Todd (Ethan’s parents)
Genetic testing is something we will forever be grateful for. Ethan was not meeting his developmental milestones, so at 6 months old we started seeking out various doctors to help us figure out the cause of his delays. We met with almost every specialist and no one could direct us to a concrete answer. Finally, at 8 months old, we ended up being referred for genetic testing, fully expecting to not get any answers like the other appointments. We got a call back and the results were in: Ethan had a duplication on his 15th chromosome (dup15q syndrome). They didn't know much about this at the time and we were handed an article about dup15q syndrome, which was not a real positive article to read. After shock and sadness, we started researching online. We found a group of parents called, IDEAS (now called the Dup 15q Alliance), which had some information on the condition. It was such a relief to know that we were not alone and we decided to attend an upcoming conference to learn all that we could. We had lots of local friends who had children with autism and they were always searching for the cause. I remember feeling so grateful that my mission to find an “answer” as to why Ethan is the way he is was over. This finding propelled us into a beautiful journey. We were able to meet families from all over the world to share the highs and the lows, because they knew exactly what we were going through. It not only gave us an answer to his delays, but gave us a path and a cheering squad to support us along the way. We became very involved in the organization and helped to create 9 clinics for dup15q syndrome and a strong support system of over 1500 families from all over the world. Genetic testing not only changed our lives, but Ethan has helped to change the world. We would never have had the opportunity to champion this cause, which can happen from a simple cheek swab.
Daniel (Carson and Chase's dad)
About six months after our oldest son Carson was born in Oct. 2011, we noticed that he wasn’t reaching his developmental milestones and his movements seemed stiff compared to other kids his age. Our pediatrician told us it was probably nothing to worry about, but we were not convinced. We saw our first specialist in March 2013, and we also consulted with our local regional center, and as a result Carson was initially diagnosed with cerebral palsy. Meanwhile, our second son Chase was born in Jan. 2013, and seven or eight months into his development we started to see some of the same issues with movement and balance, and he began PT and PT as well. Our doctors suspected it was an underlying genetic condition, but had no definitive answers, and so I dove into online research to learn more about the genetic causes of movement disorders. We spent three years undergoing karyotyping, metabolic screens, two rounds of whole exome sequencing, and two gene panels, all of which came up empty. After months and months of exhausting research we were finally able to do the whole genome sequencing. In Feb 2018 we learned that our boys were two of seven patients in the world with MEPAN Syndrome, a mitochondrial disease caused by mutations in the MECR gene. That was the culmination of nearly six years of research and many sleepless nights. Getting that genetic diagnosis has allowed us to add supplements to help address their symptoms and connect with other MEPAN families. We are big proponents of using genetic testing early to help families avoid a diagnostic odyssey like ours.
Katie (Maggie's mother)
Having Maggie's genetic testing done was a breeze! It was a simple cheek swab and within weeks we had a diagnosis of Koolen-deVries Syndrome.
Maggie's diagnosis gave us a few things; first, it answered the question of why she was delayed. It also gave us a starting point. Rather than chasing her medical complications as they arose, we were able to rule out potential problems that commonly occur with her syndrome ahead of time. We were able to find and address some of her health problems earlier and get established with the specialists that we may need to see in the future because we now had her diagnosis. Having a name also allowed us to find our new “kool” family, a group of other families with children with KdVS. This group has been invaluable for medical advice as her syndrome is very rare and doctors don't know much about it yet. The group has also given us a place to relate to people going through the same thing. Lastly, having Maggie's diagnosis has opened the doors for help and resources. Her diagnosis allows her Early Intervention therapies, allows her to qualify for Social Security and Disability benefits and Medicaid waivers, etc. With her diagnosis in tow, we feel that we can better prepare ourselves and Maggie for the future.
My advice for parents considering genetic testing? Do it. It's completely painless and may give you the answer you've been looking for, as well as open doors for research, potential treatments, and ultimately improving the quality of life for your child.
Natalie (Beckham's mom)
It was like a nightmare I couldn’t wake up from. I knew something was wrong with my sweet boy and doctors couldn’t give us any answers. He had one test after another and we were continually told that “everything is fine... you’re just over-reacting.” I spent many sleepless nights researching every symptom. I would make myself sick from worry while waiting months for test results. I wish we would have known then about more genetic testing options that were available.
Even though a diagnosis can be scary, once we had ours --Pelizaeus-Merzbacher disease -- we were able to move forward with a better treatment plan for Beckham. We became knowledgeable about his disease which helped us make more informed medical decisions for him. We were also able to find a support group of other families going through exactly what we were. Having that support group was life changing. We went from feeling helpless and alone to comforted and hopeful.
If we could do it over again, we would get the genetic testing done sooner. That would have eliminated a lot of fear, worry, and sleepless nights. Time is so important... our advice to any parent who’s concerned about their child’s health would be to not wait to do genetic testing. Get answers now and do everything you can to better your child’s life. The peace of mind that comes from finally having an answer is PRICELESS.
Calleen & Alan (Maia's parents)
Finding a genetic diagnosis (Phelan-McDermid syndrome) for our daughter, Maia, that explains so many of her symptoms has relieved our family of years of worry and guilt. It’s given us answers to questions we never knew we had!
We can look at her health, both emotionally and medically, with a new perspective that has given us a better direction in the services we provide for her. Our whole family is seeing the differences in how each of us view her behaviors and we are learning how to better support Maia's needs and care for her more specifically to those needs.
We have also been given a new community to learn from and lean on. It’s been a great comfort to know that there are other families that know our experiences, our celebrations and challenges.
The science this knowledge comes from is amazing and I hope more families can take advantage of genetic testing and find answers to better help their families.
Jason and Gina (Camden's parents)
When our son Camden was born it was easily the greatest day of our lives. This was something we had waited and prayed and worked for (seven IUI's, countless fertility appointments, and two failed IVF’s) and for it to come to fruition was just the greatest feeling in the world. Upon his arrival, we noticed his cry was a bit softer than what was expected of newborns but his Apgar scores were spot on and everything else checked out fine. We were even reassured by two doctors and several nurses that we would soon learn to appreciate that smaller cry because of overnight feedings, dirty diapers, and what have you.
As time went on, though, we saw that Camden was dropping behind his peers in terms of development. He was a little more wobbly than others his age, his eye contact wasn’t as good as others, and he didn’t love to eat. We weren’t overly concerned because no professionals seemed concerned.
We enrolled Camden in Early Intervention services in hopes of getting him to catch up, but we were also persistent in getting the opinions of specialists. Mostly it was our hope to cross things off of a proverbial list, Camden’s not lactose intolerant, check, has no allergies, check, you know, that sort of thing. Once again, everything checked out except his development. That was still the big question, "Why is he still behind?"
I’m not going to sugar coat anything, to know deep in your heart that something is probably up is a feeling no parent should ever, ever be allowed to feel. And while we were scared, even safe to say in a bit of denial, we knew that it wasn’t about us, it was about Camden. So we pushed and we got what we wanted in terms of testing.
It wasn’t until Camden was ten months old that we got our diagnosis from genetic testing and it was Cri Du Chat or 5P Minus. That was a starting point and from there, at least there was direction. Today, with the therapy and love and tremendous support from family, community, and teachers, Camden is flourishing. We have found that he is on the more mild end of Cri Du Chat even though an identical sized deletion of chromosome number five affects each individual differently. He’s walking (he wasn’t supposed to), he speaks (he wasn’t supposed to), and he’s living an incredible life (he wasn’t supposed to do that either).
What got us to where we are today was one hundred and fifty thousand percent the genetic testing. If we hadn’t pursued it, we’d most likely still be spinning our wheels. If we hadn’t been brave, we wouldn’t have been able to get Cam the help he needed. We have genetic testing to thank for Camden’s progress. We also have genetic testing to thank for Camden’s perfectly healthy younger sister Renna.
When Camden’s diagnosis came through, we were tested as well in case we were by chance carriers who might pass the syndrome on if we had other children. Through genetic testing we were reassured that the deletion was a fluke and that we were indeed fine. When the time comes, Renna will also be tested to be sure she can’t pass it on as well. There is no ”taboo” with this testing and we have it to thank for our progress and peace of mind. The sooner you get tested, the sooner you can plot your path because, good news or not, it sets you in the right direction. It's not easy and it can be scary, but it's for them. It's a starting point, but its more importantly a starting point that sends you to the right finish.
Jon (Nathan's father)
When we first noticed Nathan's development was behind, I was initially thinking that he would catch up and improve, but my wife knew something wasn't quite right compared to how our other sons developed and was determined to do everything she possibly could. Being in the dark and not knowing why your child is behind is a horrible experience for any parent. When we learned about the chance to possibly find an answer through genetic testing, we jumped on it as soon as possible. It identified a diagnosis of GRIN2B, which changed everything for us. We went from trying to figure out why our son isn't where he should be to trying to get as much information on his diagnosis as possible. It has actually made us much happier with every milestone and achievement he makes and we have learned not to take anything for granted. While GRIN2B is not an extremely well known diagnosis, it has given us the opportunity to reach out to parents and also read and learn what we should watch out for. Nathan has achieved more than we imagined and being able to explain Nathan's diagnosis to his autism class teachers has greatly helped.
Genetic Testing has been a blessing for our family. Before we had Nathan tested, we could not find any answers or explanations for Nathan's delay. Providers would constantly tell us that he will catch up eventually or they simply do not know. Since getting tested, everything has changed. The results we received provided us the ability to participate in studies and connect with other families that share his diagnosis to help us be much more informed parents. This has helped us cater his home life and autism school experience to greatly improve his development. With the ability to compare his progress to others with his diagnosis, we are able to have an idea of things to watch out for and work on. We have also become much happier with every milestone he reaches as he has blown past many of the milestones older kids with his diagnosis have plateaued at. At age 7 now, he knows his numbers (1 through 20), letters, letter sounds and can even read some 2-3 letter words! I have no doubt that without Genetic Testing, my family would still be in the dark and Nathan would not have made anywhere near the amount of progress that he has today.