Angelman Syndrome Clinic in Colorado provides hope to families

Yahoo

15-05-2025

(COLORADO SPRINGS) — When a child is born, so is a whole host of hopes and dreams.
'When you hold your child for the first time, the first time you hear their cries… you play out their lives completely,' said Emanuel Prodan, a father of three, 'and you hope it's the most incredible version of a life that they could possibly want.'
That's what happened when his son Jonah came into the world on Dec. 18, 2020.
'And you think about all the fun times you're going to have with them growing up,' said Emanuel. 'And then kind of just as quickly, that goes away.'
Early on, Emanuel and his wife Jayme could tell their son was different.
'I started noticing around five months that he wasn't meeting milestones,' said Jayme. 'He wasn't rolling; he wasn't even trying to sit up. There was so, so much information on the internet… and delays do exist with no underlying medical condition, and that's what I was just really hoping for.'
Initially, doctors downplayed their concerns, but Jayme said she knew something wasn't right. 'I had to fight for a referral, and I had to fight for a neuro consult.'
'As time went on, we were starting to notice more and more things,' said Emanuel.
For more than a year, they pushed their doctors. 'My gut knew something more was at play,' Jayme explained.
'Finally, they did a neurological test and then they did some genetic testing, and then that's when they realized, okay, he's got Angelman syndrome,' said Emanuel.
Finally, the Prodans had an answer, but so many more questions.
'Angelman syndrome is a genetic development disability,' said Dr. Wendy Pierce, Pediatric Rehabilitation and Medicine Specialist at Children's Hospital Colorado. 'It's an inherited disability that affects all aspects of speech, the ability to perform activities of daily living, and mobility.'
'When I explain it to people, I say it affects mobility in every way, and when you think about mobility in every way, you don't really think about coordinating chewing, coordinating your tongue to speak, coordinating swallowing,' said Emanuel.
'It's kind of like just a complete lack of coordination in your body,' said Jayme. 'I think in a lot of instances Jonah can understand what I'm asking of him, but it's like he's trapped in a body that cannot coordinate all of the things to do, even the simplest of tasks.'
According to Dr. Pierce, symptoms of Angelman Syndrome range in severity. 'There is a big spectrum,' she said. 'There are folks who have Angelman who actually do not have the ability to walk, and there are kids who have the ability to walk; most kids have speech challenges.'
When Jonah was diagnosed, Emanuel, a pilot in the U.S. Air Force, was stationed in Mississippi.
'There just wasn't specific care for Angelman there, and so we just kind of sprang into action. We got that first bit of shocking news and went, 'Okay, how do we help him? I think we need to move,'' said Emanuel.
Luckily, they landed in the Centennial State, home of the Chromosome 15 and Related Disorders Clinic at Children's Colorado, a designated Center of Excellence and one of only three clinics in the world to earn this distinction for its level of care. 'We have a multidisciplinary clinic specifically for this diagnosis,' said Dr. Pierce. 'So all of the providers that are in that clinic are experts and see Angelman.'
'They knew Jonah's syndrome before we came in,' said Jayme. 'They had treated children with Angelman Syndrome.'
'It's been spectacular. I mean, every time we've met with them, especially the first time, was just unbelievable,' said Emanuel. 'Getting to meet eight or nine different doctors who were just there to talk about Jonah.'
Providers include neurologists, physical, occupational, and speech-language therapists as well as genetic specialists, dieticians, and more.
'It serves as a one-stop shop for families so that way, families can just take one day off of work and see multiple different specialties together,' said Dr. Pierce. 'And especially for families with complex needs, it's nice when you know all your providers are together and they are talking with one another so that way they don't feel like they have to be the go-between for their different specialists.'
'We felt such a sense of relief. It went from this nameless, faceless thing… and then boom, we've got this whole care team,' said Emanuel.
'It's changed our entire life, and I cannot, I cannot say that enough,' said Jayme.
'It's been fun watching him progress as he's been learning to improve upon his mobility,' said Dr. Pierce. 'He's still very young, and he still has a lot of potential.'
A potential that Jonah works hard every day to reach. Jayme said he has multiple appointments every week with physical, speech, and occupational therapists.
'He's just an amazing little boy,' said Jayme. 'He challenges himself all the time to just go harder, go faster.'
And he does it all usually with a smile on his face, a classic characteristic of those with Angelman Syndrome. 'He smiles a lot,' said Jayme. 'I think it's like the instinctive, like 'Oh, this is awkward, I'm just going to laugh through it,' kind of thing because very often we will find him laughing at situations that are not funny at all.'
The Prodans will be the first to admit that life isn't always heavenly, but they have their own little angel helping them see the light.
'I remember really struggling; I just want him to live a full life,' said Emanuel. 'And I remember thinking to myself, like, 'What do I mean by that? Does going to college mean having a full life?' Plenty of people don't go to college, and they live full lives. Does being married make you have that? No. Does having kids? No.'
What initially seemed like a devastating diagnosis has opened the Prodans' eyes to a whole new world.
'I want people to know that there is hope beyond the diagnosis,' said Jayme. 'It doesn't have to be the worst possible thing.'
'If I told myself four years ago what my day would look like, I think it would be kind of crushing to four years ago me,' said Emanuel. 'But today, it's normal. We're growing with him.'
And when times do get tough, they lean on their faith and ask, 'What would Jonah do?'
'People do hard things every single day, and Jonah does hard things every single day,' said Jayme. 'And I can meet him there and do those hard things with him.'
'If he overcomes it every single day, who are we to sort of lie down and go 'I can't take this anymore? I have to give up,' He's so resilient,' said Emanuel.
Jonah will never fly planes like his father or teach at the Air Force Academy, but he teaches those around him important lessons every day.
'Everything that he produces is from a place of compassion, from a place of love,' said Emanuel. 'He has never met somebody he doesn't care for. He loves everybody. And that gives me the perspective of, if he can be that way, then innately we all have that capability.'
Emanuel said Jonah's love of life and contributions to society have also caused him to completely reevaluate what he used to consider important.
'I think I've always sort of come from a perspective of, we need to be productive and be at work… and Jonah kind of shattered that for me in the sense that I don't see him as a person of value based on what he can produce or what he can't produce,' said Emanuel. 'He's valuable. He contributes. It just looks different than what we're used to being told contribution and value look like in society. He's a joy to be around.'
The Chromosome 15 and Related Disorders Clinic provides care for people of all ages from before birth through adulthood. According to Children's Hospital Colorado, 1 in 12,000 to 20,000 people have Angelman Syndrome, and approximately 500 to 1000 cases occur annually.
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