Our family's journey began when our 6 month old son Jack, was missing some developmental milestones.  Jack is our 2nd child and we didn't think much about his slow development, we thought that was "just Jack."  He was happy, smiley, loved to cuddle, loved to eat and was about as "normal" as any other baby. When our pediatrician saw that he couldn't roll over or pass a toy from hand to hand, he recommended that we get an evaluation from Early Intervention. That simple evaluation began our journey with Jack.   

 

After two and a half years of countless Doctor's appointments, MRI's, EEG's, Physical therapy, Occupational therapy, Speech therapy and Special Education, we went to The Kennedy Krieger Children's Institute in Baltimore, where Jack received Full Genome Sequencing.  Ultimately, Jack was diagnosed with ADSL Deficiency. ADSL is a rare genetic mutation in which both parents are recessive carriers.  Jack is literally one in a billion. ADSL is associated with intellectual disability, seizures, autistic like features, and hypotonia (low tone), to name a few. 

 

No parent wants to hear that their child has special needs. In an instant, all of the hopes and dreams we had for Jack, and our family, were altered. Our future was uncertain, and that brought out any and every emotion you could imagine. Anger, Fear, Doubt, Grief, Lots of Tears, Why Us? Why Jack? Did we do something wrong? Who can help?  What do we do next?

 

We wanted to create this site not only to share our story, but to raise awareness about rare disorders and to potentially be of assistance to other families. We are not experts, but we live this every day and we do have our own expertise in Jack. 

 

We were told by medical professionals that Jack's future is unknown. There is no known cure for ADSL and frankly no one is studying this disease because it is so rare.  Medical professionals didn't know if Jack would ever sit independently, crawl, walk or talk. We are happy to report that our little boy can sit, crawl, and he was walking independently just before his 5th birthday!  A true miracle! (see video below)

 

Today, Jack is the happiest, sweetest, most fun-loving 14 year old boy. He is still non-verbal, but is very close to saying his first words. For now, Jack communicates with his eyes and points to what he wants.  He also uses a Pro Slate device to communicate.  His big brother and little sister are his idols. Jack loves attending full-day 9th Grade, and enjoys being around other kids and adults. He is a kind soul who is curious about life and the world around him. Jack's laugh is contagious and he loves music.  Jack loves to sit shotgun on his family's pontoon boat, dance to great tunes, eat his favorite foods, and watch baseball.  Jack is known as "The Mayor" at school and loves wandering into other classrooms to wave hello.

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Jack has the most amazing team of therapists, doctors, dentists, aides, trainers, and teachers who have helped us on our journey.  We would be lost without them.  We know how much they love Jack and we appreciate the time and talent they bring to our little boy.  If Jack could talk he would tell you how much he loves you and would say Thank you!  We also have an incredibly supportive community and wonderful family and friends who help us daily.  It takes a village.

 

We invite you to continue on our journey.  We don't know where this road leads, but we realize that we have been blessed with a very special little boy.  Jack and many other children like him are a gift, a gift that should be respected, appreciated, and loved.  We are so proud of our Happy Jack and we are honored to share his story with you.

 

With the advances of modern science, we believe that you will hear more about ADSL in the future.  It is our intent to stay up to date with the latest information and research.

 

Please feel free to reach out, we would love to connect with you.  We know the diagnosis of a rare disease is hard to handle and we are here for you.

 

Life is different for those with ADSL but we assure you...life is good.  From our family to yours, thanks for visiting!

 

-The Constantino Family