by: Jacqueline Hadaya, Mom
Justin Hadaya, Dad
Justin had an uneventful birth and was a great infant with no issues aside from poor breastfeeding. We started to notice that Justin was not smiling at about 3 months old, always appeared tired and somewhat of a “floppy” baby. At 6 months old during Justins well baby visit to the pediatrician the Doctor was slightly concerned he wasn’t rolling over yet or tracking items so she recommended we start early intervention. I am a NICU nurse so after that visit I immediately made a Neurology appointment at Boston Children’s Hospital. Did I mention we are from the Boston area? We started early intervention and we started to see Neurology. Justin saw Neurology at children’s Hospital Boston from 7 months old to about 17 months.
When Justin was 15 months old and with showing minimal progress the Neurologist wanted genetic testing done. Knowing what that meant I was so upset and scared of what they were going to find. Two months later, on July 7th, 2011, we got the devastating news that Justin had Dup15q Syndrome. We got a karyotype done on Justin and saw Genetics who told us Justin had idic15. We were given a photocopy of 4 pieces of paper of info they got from the Dup15q Alliance website. They let us know that a clinic may be opening in the next two years in the Boston area, advised us to not get pregnant for a while and sent us on our way. Around this time I noticed that Justin was having these episodes of stiffening his body intermittently and his eyes were diverted. Along with that were other episodes of losing all tone and dropping his head. I recorded them on my phone and showed Justins Neurology Fellow, who told us it looked behavioral. What? I’m a NICU nurse, you are telling the wrong person it’s behavioral. The fellow showed the Attending Neurologist who thankfully said we needed to get a 48hr take home EEG. Around this same time I got a hold of Len Poore, Chairman of the Dup15q Alliance at the time and a Dad who lived in Massachusetts. I asked him if he knew of a clinic that was going to open in the future. He said that there is a clinic at Mass General Hospital that has been open for a few months and it’s run by a Doctor by the name of Ron Thibert who sees about 20 families in New England. I made an appointment for Justin with him for the end of September, 2011. I was still perplexed by the fact that I was given false info about the clinic. Justin then had his take home EEG about mid September. He had a seizure about 1 hour before we were to get the EEG leads removed at Children’s Hospital Boston. I was happy knowing that they would see this and start meds quickly. We had a follow up scheduled for a week after the EEG. The day of the appointment Children’s called me to let me know we wouldn’t be seen that day per the Neurologist and to come back in November to see a different Doctor. I was confused and angry, I said I wanted the results of the EEG and again was told they would see me in November. So I went to Children’s that day anyway and got all of Justins records and his EEG on a CD because I was seeing Dr. Thibert at the clinic in two days.
I was so excited to meet the seizure Guru as I called Dr. Ron, and in looking him up I realized I had worked with him at Floating Hospital for Children at Tufts Medical Center a few years earlier. When he met us he instantly remembered me so I knew Justin was in great hands. I handed him the CD of Justins EEG , he popped it in his computer and within 30 seconds he diagnosed Justin with epilepsy. After 15 minutes of assessing Justin he diagnosed him with Autism. Justin started Keppra that day and within 2 weeks he was crawling. Needless to say I never brought Justin back to Children’s. Don’t get me wrong, Children’s is a great Hospital but MGH is the right place for Justin to be at this time.
Justin had seizures for almost 2 years. We stayed on Keppra and also started Banzel for the 20 or so head drops he would have per day. Banzel was not working so we began to wean Banzel. We then started a slow increase of Lamictal which took 3 months to get Justin to his target dose. We noticed a decrease in the drops and he no longer had the tonic seizures. On December 31st, 2013 Justin had his last head drop. Around this time he started to walk with assistance just 2 Months shy of his 3rd Birthday. He continues to be mostly seizure free requiring some minor med increases for weight gain.
Justin had Early Intervention with PT, OT and Speech services from 7 months to 3years. He then started preschool in a multi handicapped, substantially separate classroom with and extended school year and continues the same classroom setting now in elementary school in the Malden Public School System. He also started ABA services at home starting at 18 months to 3 years and continued with ABA style teaching in preschool and now in elementary school.
Justin diagnoses include Dup15q Syndrome, Epilepsy, Autism, Non verbal, profound global delays, sensory processing disorder and anxiety disorder. Justin has great receptive language skills and we use a multi system communication approach of Pecs, verbal commands, and signing. Justin sees 6 specialist which are: Neurology, Neuropsychiatry, GI, Orthopedics, Physiatry, and Ophthalmology.
Justin loves music, any toys that light up and sing, he loves school, barefoot book videos on YouTube, he loves giving hugs, getting tickled and swinging. His favorite thing in the whole wide world is swimming. He takes an adaptive aquatics class at our local YMCA through a program called EMARC. Justin is starting to toilet train, jump and run. He is the sweetest kid you will ever meet.
We have met so many amazing people in our Dup15q family in this country and all over the world. The support groups have given us so much love, support and understanding. We have been to 2 Dup15q Conferences where we experienced such amazing love and acceptance and the only time we truly feel free living with this syndrome.
The one thing that helped us tremendously was when we learned to accept Justin for who he is not try to fix him. For example, when we stopped focusing on trying to get Justin to speak and rather learn how to communicate with him the way he can communicate it was as if the Heavens Opened.
This life is extremely hard but we love an accept the life we were given and we love Justin more than he will ever comprehend. We learned from the get go to take it one day at a time.