Holden – Dup15q Family Story

January 6, 2017

 

IMG 9502

Meet Team Weissberg: Marc, Lauren, Reid, Holden, Jonas, and Darcy the dog 🙂

When Holden was born, he was such a good baby.  He didn’t wake up too often in the middle of the night for feedings, was quiet and content–the complete opposite of his big brother! We just assumed that after 2 years of not sleeping, we were finally being given a gift.  We described Holden as being chill, with his serious demeanor and love for cuddling.

IMG 9508Although we were careful not to compare our two children, Marc and I could not help but notice that Holden was not reaching his developmental milestones.  We were always open and honest with our pediatrician at the monthly visits, but our doctor never seemed concerned.  As we approached his 1st birthday, the doctor did comment that Holden was not pulling to stand and recommended that we give him three more months before referring Holden for a PT evaluation.  When Holden turned 15 months and could not crawl or pull to stand, we were given a referral for PT.  Though we often wonder if we should have pursued an evaluation sooner, it seems that fate was on our side because a wonderful therapist was brought into Holden’s life.

In June 2015, at 17 months of age, Holden had his PT evaluation and we were told that he had hypotonia.  What did that mean? We had no idea, but we were sure one hour a week of PT was going to fix it.  But it didn’t. IMG 9513 Holden could barely sit up without falling over.  Holden’s therapist, Dr. Nicole recommended that we call Early Intervention (EI) for an evaluation and we soon learned that Holden had global developmental delays and qualified for OT, PT, Speech, Vision, and Developmental Intervention.  As parents with full-time jobs, we wondered how we were going to integrate all of these therapies into Holden’s life, but with the help of the fabulous owners and teachers in his daycare, we were able to work everything out–and the teachers even participated in the sessions!  We were getting a handle on the therapies but still struggled to find answers.

Dr. Nicole, who we now refer to as the quarterback of our family, came to the rescue once again and recommended seeing a physiatrist and a neurologist.  And thus began the scariest few months of our lives. Poking, prodding, MRIs of the brain–waiting with bated breath for phone calls from specialists with results.  In December, we were told Holden’s MRI was clear…so, we assumed everything was fine and he just needed time to catch up.  Our poor baby had been through so much in such a short period of time, but there’s no doubt this boy is a champion!

IMG 9507 1It was recommended that we see a geneticist–an appointment we would wait nearly 4 months for. We were not expecting anything to come up because the geneticist said it’s extremely rare that you find something in the first round of testing.  At our February appointment, our neurologist diagnosed Holden with Cerebral Palsy.  We tried to come to terms with what this would mean for Holden and our family. Needless to say, it was an emotional time for us.  We pushed for as much therapy as we could get to give Holden the best possible chance. Holden was and continues to be the hardest working little nugget we know.  He tries so hard in all of his therapies and truly has the heart of a champion.  We can rest assured that no matter what happened; Holden was going to have a fighting chance. Just as we were starting to accept the CP diagnosis and begin to move forward, our genetic testing results came in.  While we waited for our appointment, the nurse told us, “Nothing life-threatening was found, but we have an explanation for the low tone.”

On May 16, 2016, we learned that Holden had an isodicentric duplication of his 15th chromosome and was formally being diagnosed with Dup15q syndrome.  The doctor handed us a piece of paper with the website of the Dup15q Alliance and had nothing else to share with us. How do you even begin to process something even your doctor knows nothing about?

We gave ourselves a full month to process this information–sharing the diagnosis with only our parents and my siblings–before we knew it was time to spring into action.  We began to network and research programs that Holden would benefit from participating in. Swim therapy, the Friendship Circle’s “Friends at Home” program, and ABA

Two months later, I had this crazy idea to have a kickboxing class and small basket auction to raise awareness IMG 9509 and money for the Dup15q Alliance.  That little event raised $10K and landed me a position on the Executive team of the Dup15q Alliance.  I have worked with the Dup15q Alliance since 2016 as an Outreach and Awareness Coordinator and a member of the Board of Directors.  Over these past 4 years, I have put together large fundraisers which brought in over $100K in donations to be used for research and clinic funding, developed and implemented campaigns for family use and for social media, assisted families with fundraising and advocacy efforts, contributed to and lead team calls, provided updates on current and upcoming projects, and worked with team members in planning, managing, and executing successful campaigns to further the financial growth of the Alliance.

IMG 9506Since Holden’s diagnosis in May 2016, we have been hit with many subsequent diagnoses: Autism, Cortical Visual Impairment, Cognitive Impairment, and most recently, Epilepsy.  Each diagnosis was a punch in the gut and we grieved them as we saw fit, but we never lost sight of what mattered most–meeting