Asmita and Kavin Mistry
Kavin is a 23-year-old young man who has a strong affinity for music. He loves to sing songs in multiple languages, from genres and artists around the world. Music motivates and energizes him, but it also calms and soothes him. He has an amazing sense of humor, and he loves to hug and kiss anyone who lets him.
Kavin was evaluated multiple times during his early childhood, however nothing much came out of those evaluations. It wasn’t until he was 8.5 years old, that a local Geneticist suspected that Kavin had features suggestive of CdLS. We took him to the Children’s Hospital of Philadelphia (CHOP), where the doctors examined him and did some blood work. His blood work did not reveal a match to any of the known markers for CdLS at the time. However, the doctors promised us that they would save his blood samples in case more markers were discovered in the future. He was formally diagnosed with CdLS at the age of 15.5 years at the CdLS Clinic in Baltimore based on presenting characteristics. A few years after that, we did receive a phone call from CHOP informing us that Kavin’s blood matched the SMC1A marker
I had just completed a master’s degree in speech and language pathology, a couple of weeks before Kavin was born. After that, I needed to stay home given all his medical and therapeutic needs. Time flew by so quickly, as every mom can attest. Between working full-time and raising a family, I had found my fulfillment, but something inside me still felt incomplete. I wanted to learn more, and do something to give back to the world. My parents brought our family to this country specifically to give us better educational opportunities, and I wanted to capitalize on that too. So, after considering and re-considering, I decided it was going to be now or never. So, in 2020, I finally mailed the application, a month before the pandemic began.
Parenting Kavin and learning about his challenges continually raised questions in my mind. I wanted to understand his condition. I thought if I understood it better, I could help him more. And of course, understanding his condition meant learning more about CdLS. Kavin turned 21 years old, precisely when the pandemic began which brought along many transitions all at once.
One of them was the transition from in-person to virtual education. Sitting next to him during those virtual classes, I saw a Kavin I had never seen before. He was quiet, frozen, like a deer-in-the-headlights. When encouraged to speak, he would open his mouth, but no voice would come out. He struggled to speak, and the tenseness was visible throughout his body. He refused to join the virtual classes and became distraught at the mention of the word “school”. It broke my heart to pieces to see him like that! Over the next few months, I observed him closely, spoke to his teachers and therapists, and tried to understand what was happening to him. I learned that the Kavin I was seeing lately was a Kavin that the school staff were familiar with.
I had no idea that he was such a different person at school! On the other hand, the school staff was also getting to hear about the Kavin that we, at home were familiar with – the chatty, funny, and social person who never stopped asking questions. We were all appalled! That was just the beginning of another journey and a newfound focus for my studies. I realized that Kavin suffered from selective mutism and social anxiety, and it had been going on for many years unbeknownst to the school or home. I was incredibly concerned that if I, a speech-language pathologist, hadn’t noticed it, how could other parents who are less familiar with communication disorders have. And where did the communication breakdown between home and school occur. I needed to find the answers.
I am about 98% done with a Clinical doctorate in speech-language pathology. I have completed a research study to understand what selective mutism looks like in people with CdLS. I also want to understand what parents’ and professionals’ experiences have been like in regards to getting a diagnosis and treatment for this infrequently discussed, but debilitating, disorder.
I would love to collaborate with the CdLS Foundation to spread awareness about selective mutism in CdLS. While conducting my research study, I met with many families like ours, and their stories are not much different. As a matter of fact, some parents hadn’t realized that their child was suffering from selective mutism until they participated in my study. It is difficult to differentially diagnose selective mutism in this population due to the spectrum of speech, language, and social communication challenges. I hope to help other CdLS families get their children assessed and diagnosed earlier so that they can receive timely help. Selective mutism is an anxiety-based disorder that has a devastating impact on one’s emotional and social well-being. It needs to be talked about and addressed, the sooner the better.
As parents, we are our children’s best advocates, but when our children have special needs, it becomes an endless task, and that can be exhausting. So, over the years, I have never refrained from getting help and finding resources wherever possible and in whatever form available.
There have been so many people involved in our son’s care, and it was important for us to build a relationship with each of them. They say that the squeaky wheel gets oiled, which can definitely be true, but my experience has taught me that it’s more effective to be a team player and have faith in the professionals who know their work. Whenever we have found ways to work together, and we made sure that my husband and I are doing our due diligence also, we learned that others are also willing to do more in return. So, it’s a win-win for our son.
Additionally, I also try to be aware of where I’m getting my information from. In the digital age, it can get really overwhelming when we try to look something up. But getting my information from reliable and valid sources has been crucial to me. It’s the only way I can have a chance of making good decisions and have a solid ground on which to advocate for my child.
We have not done much in planning for Kavin’s future care or services. And although it sounds like an excuse, the fact is, that the pandemic has delayed much of what we could have accomplished otherwise. The last couple of years have brought some unique and unexpected challenges for Kavin, and those needed to be prioritized. And that’s okay. We are just beginning to do what would have ordinarily been done two years ago. We are working on settling him into his day program, which is still not functioning at its full capacity. We are trying to make connections with organizations and people who are experienced in this area, and we are looking at what options are available for us.
Kavin is also going through a lot of changes himself. We still have a lot more work to do but one step at a time. It’s a daunting, emotional, and time-consuming process for any parent. Fortunately, there are lots of people who will always remain a significant part of Kavin’s life, no matter where he goes or what he does. For us, that’s extremely reassuring.
Kavin has taught us perseverance, patience, gratitude, and love. He has enabled us to see a whole new side of the world that we would have never known otherwise. We are truly blessed to have been part of that world which is full of angels living right here beside us.
His million-dollar smile lights up the world around him. He is strong and determined, and he has learned to stand up for himself. He is becoming more and more independent every day, and he exemplifies the notion that learning is lifelong. He’s been my number one role model in life.
Kavin is diagnosed with CdLS, and like all syndromes, CdLS comprises many symptoms, some of which do not become evident until later. CdLS also encompasses a wide range of functions, each of the physical, psychological, and communication areas, making each person with CdLS, truly unique. And because it’s a rare disorder, its characteristics are not always known to all medical, clinical, and educational professionals. All these issues combined make it difficult to care for someone with CdLS. I like to think of CdLS as a box with a 1,000 puzzle pieces and an incomplete picture. Despite all the existing research and knowledge available, the picture we have is still missing parts. And those of us whose lives are touched by CdLS, parents and professionals alike, are trying to fit the pieces together without a perfect guide, which can lead to some trial and error. More research is needed, and the findings will help to complete the picture some more.
I’d like to encourage the caregivers to set up a strong support system for themselves and their person with CdLS. If it takes a village to raise a child, our children with CdLS will unquestionably need a city. Sometimes it can include siblings or extended family; and at other times, it can include friends, co-workers, and community members. Whoever it is, it’s important to keep building the relations, nourishing and strengthening them. We can’t always do it all. And even if we can do everything today, tomorrow may be different. I am tremendously thankful to the CdLS Foundation, as a parent and as a professional. Our family has received unconditional support, understanding, and guidance over the years. We are grateful to have met all the professionals and families through the Foundation, who have now become an integral part of our city.