Stella Shea Roman was born August 30, 2015. When Stella was four months old we started noticing she wasn’t meeting her milestones. We took Stella to her four month well visit and her pediatrician said she was a little lazy and that we should push her more.
At her five month visit I told the Dr. that something just wasn’t right… she was flopping her head forward and had very little control of it. She was not making eye contact and didn’t really show interest in anything, not even her older brother. The doctor referred us to a developmental pediatrician and a physical therapist evaluation.
At that point we were advised to do genetic testing. Before we were able to attend our appointment with the genetic doctor, Stella started having infantile spasms and we went to see a neurologist right away. There were several possibilities to what was causing the spasms. Brain tumor, Prader Willi syndrome and cerebral palsy were all discussed. We got admitted to the EMU at Hackensack Hospital that day… I have to say that was the first of many scary days to come for us on this journey. Stella was connected to an EEG and also prepped for an MRI and we were in the hospital for about 4 days monitoring the spasms. She was put on a compounded form of Topamax. Luckily for us, her MRI was clean and we felt like we were out of the woods… but we were still waiting on genetic tests results which usually take months to receive.
We went home with Stella, at this point she was 6 months old and the spasms still occurred despite the medication. We then received the call from our Neurologist letting us know that Stella had Dup15q. He was not even aware of what it was – he told us to go on the Dup15q Alliance page to get more information and to also go see our genetic doctor for a more formal follow-up. We did go on the Dup15q Alliance page and watched the “Believe” video, and it brought us to tears… we didn’t know what to expect and reading the information on the page was very overwhelming for us since this was all so new and so much to take in at one time. We just became focused on trying to manage Stella’s spasms and I didn’t look at the Alliance page again until almost a year later – I was so focused on getting Stella set up for Early Intervention, and private therapy since we were told the only thing that will help Stella walk and talk would be intense therapy. I started making calls and exhausting any and all possibilities to get as much therapy for Stella as soon possible and we had succeeded to do just that.
The spasms though were a different story… they continued and got stronger and scarier. We tried Sabril after another 48 hour EEG connection and hospital stay… the spasms still continued. We tried a modified Akins diet – which was very close to Keto Diet… the spasms continued. We then decided to try the ACTH medication which was the most invasive for Stella and it required another hospital stay to make sure she was a candidate for it. Heart, Lungs, TTP, EEG, blood work, all was checked and the meds started while she was admitted so that she could be closely monitored. We went home from that stay and had nurses come to the house every day for 28 days to administer the medication and also check Stella’s vitals… it got really scary at this point as the spasms graduated to focal seizures, which we had no experience with and were scared to death about. We had two additional hospital stays at the EMU where Stella was brought in via ambulance after turning blue – those by far were the scariest days of the journey for sure. Shortly after that point, we found the right medication, and for over three years, we were seizure free!
In September 2019, we participated in the PRT study, run by Gaby Ruzin. She visited us for three days and trained us on this fantastic program. Stella took to it, and we are still using it today. Like anything else, she has her good days, and not so good days with it.
Fast forward to August 2020, and Stella is just a few weeks from her 5th birthday. This year, as for everybody, has brought lots of challenges. The pandemic, working from home, home schooling. We are persevering through it all as best we can. We worried how Stella would handle virtual school work, and, like most other challenges in her life, she kicked butt! She really thrived in the new environment. Since the beginning of July, we’ve slowly started introducing therapists back to our home, with all of the proper protocols, and thankfully, Stella has adapted, yet again.
Stella began having spasms again in early April, so we had the standard blood tests, did tele health visits with her neurologist, and had an in home EEG. It was determined that the slight “spasms” that she was having, were in fact, seizures. Working with her neruo, we raised her daily doses of Topomax, and after a couple of months, and almost double the dosage, we seem to be getting back to a good place. We’ve also discussed, CBD, and Stella will be starting that in a few weeks.
Stella is a walking, talking, ball of fire these days! She continues to learn so many words. We are in the midst of potty training, that while not perfect, has progressed by leaps and bounds from the beginning of the year.
Being part of the Alliance is one of the best things we have done. Family gatherings, Alliance sponsored events, just the non-judgmental environment of the Alliance has been a blessing. We couldn’t be more blessed to be a part of this family.