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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.
Although we were careful not to compare our two children, my husband 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. He 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 in to 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 participate in the sessions! Holden spends many hours of his day working tirelessly to improve all of his skills.
Approximately three months before Holden's second birthday, we learned that he had a chronic fluid problem in his ears and could possibly have hearing loss, so tubes were a must. Fortunately, all of the problems stemmed from the fluid and Holden had perfect hearing…but now had to learn to hear and communicate after 22 months of not being able to do so. 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!
It 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. We were given paperwork about the Alliance and very little else. Now, here we are, with our newfound family who offers support, hope, and explanations. In such a short time, the Alliance has made a profound impact on our family, and we want to give back. We know that doctors have a lot of knowledge, and we continue to pray that doctors and researchers will work to find treatments to help make the lives of everyone living with dup15q syndrome the best it can possibly be.
So, we invite you to come to our Boot Camp fundraiser, Hope for Holden, on September 16th!
May Holden and all of his dup15q syndrome brothers and sisters remember: "Believe in yourself and all that you are. Know that there is something inside you that is greater than any obstacle."
Dup15q syndrome is a rare genetic disorder with symptoms including developmental delays, cognitive impairment, seizures, autism and low muscle tone.
Dup15q Alliance provides family support and promotes awareness, research, and targeted treatments for dup15q syndrome. Dup15q Alliance is a 501(c)(3) organization and your donations are tax-deductible as allowed by law. The Alliance is mostly run by volunteers, so your donations directly provide programs and services to families affected by dup15q syndrome.
Dup15q Alliance helps families like ours who struggle every day just to manage the care for our special children. Since our first golf event was held in 2010, many exciting things have happened. For example, Dup15q Alliance has facilitated the creation of nine dup15q clinics and held numerous family conferences and regional gatherings. Meeting with other Dup15q Alliance families helps us to feel less isolated in our journey with this rare disorder. We rest easier knowing which treatments and therapies work best for our kids. On the research front, Dup15q Alliance has funded the creation of a dup15q mouse model at Texas A&M University, an autism study at UCLA and two fellowship awards. By increasing the scientific knowledge of dup15q syndrome, our hope is that one day we will have treatments targeted specifically to the genes affected in dup15q syndrome. Together we can make a difference!