Teddy’s DYRK1A syndrome story

The story of Teddy

When i was 26 weeks pregnant I had an emergency scan due to reduced movements. The scan showed that my son was growing smaller then he should be, he was under the 0.4 centlie, I had a two vessel cord which I was told there is a chromosome/genetic problem and mention symptoms are a sign of Down syndrome and he could be delivered anytime from 26 weeks. I got put on weekly scans to check blood flows and babies weight. Then on to daily monitoring due to not feeling him move.
I got induced at 37 weeks, and after a very scary traumatic fast birth I delivered my baby boy at 37+1 weighing 4lb 14oz. He was took to neonatal due to respiratory distress. Other health problems then came up in neonatal and we went through some hard days when our baby was so poorly and it was hard because no one knew why he was so poorly he also went through numerous of tests. We spent 5 weeks and 3 days in neonatal before bringing our baby home.
A basic genetic test was done on my baby in neonatal which was for 4 chromosome syndromes including Down syndrome and Edwards. They came back normal. A genetic nurse came out and took mine, my partners and my babies bloods to sent away for a big genetic screening. We had to wait 5 month for the results.
While waiting for the results we where and still are constantly in hospital due to my son health he is poorly a lot so we do have a lot of hospital visits/admissions but due to not knowing what was wrong with him we used to get told “we don’t know why he is doing this and that” “we need his results back to see what’s going on” it was so scary for us as parents as no one knew why he was always so poorly. He is under a numerous of professionals so we have a numerous of appointments we have to go to and more professional are getting added to his care. This also means we do have to travel to different hospitals.
4th May was the day we finally got our results and that’s when we got told that my baby had a very rare genetic condition and not many people or professionals know about this condition. The genetic nurse also explained that me and my partner do not have the gene so our baby got it spontaneously. He was diagnosed with DYRK1A Syndrome.
What is DYRK1A Syndrome?
DYRK1A syndrome is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly. Affected individuals often have a clinically recognizable phenotype including a typical facial gestalt, feeding problems, seizures, hypertonia, gait disturbances, and foot anomalies. The majority of affected individuals function in the moderate-to-severe range of intellectual disability however, individuals with mild intellectual disability have also been reported. Other medical concerns relate to febrile seizures in infancy the development of epilepsy with seizures of the atonic, absence, and generalized myoclonic types; short stature; and gastrointestinal problems. Ophthalmologic, urogenital, cardiac, and/or dental anomalies have been reported.
My son has had feeding/vomiting problems since birth he has had a NG tube since birth. He is due to get the Micky Button in his tummy for feeding and a fundoplication. We are also under other investigation due to always been poorly with his chest and produces a lot of secretions. We are also been referred to physiotherapist because of his chest and we will be getting trained to use a suction machine as he really struggles to breathe when been sick. He is now on a long term antibiotic. He has a milk allergy so he has special milk with food thickener and sickness medication due to his vomits, he has special equipment from physio due to his muscle tone, he is behind on his milestone. He has also had an operation on his right eye and has to wear glasses and patches. Teddy is only 1 years old and he’s been through so much already and we are unsure what is to come for Teddy and for us but no matter what we will always support our baby. Teddy has his own journey and his own rule book.
We want to make DYRK1A Syndrome aware to the world, to professionals. It’s so scary as a parent when we do not know about the Syndrome and we are trying to learn about it and have to carry leaflets from the genetic nurse around with us because it’s a rare condition and people don’t know about it. It’s so scary when we say “he has DYRK1A Syndrome” and people/professionals look at us confused and say “I have never heard of that before” We follow a group online with other adults/children who have DYRK1A Syndrome and the group has just hit 600 people in the world that has DYRK1A Syndrome. It’s lovely to have support from other people from around the world as they all know as a DYRK1A mum and dad what we are going through and how we feel. DYRK1A Syndrome has an awareness day on August 21st. So please share our story, please spread awareness for Teddy let’s get DYRK1A Syndrome known to the world, to professionals. It could even help people out there who have not been diagnosed and could have DYRK1A Syndrome.
We feel that more research needs to happen on DYRK1A Syndrome and we feel that DYRK1A Syndrome needs to be a genetic condition that needs to be known by professionals so they know what they are dealing with when our miracle babies go in to hospital. As a first time mum I didn’t expect my life to change the way it did. My maternity is spent in hospital, cleaning up large amounts of sick, appointments, NG tube feeding, taking large amounts of stock out with me when leaving the house, learning the medical side of looking after my baby, training on how to look after my baby, feed my baby, my work life has changed. It’s hard mentally and physically but I wouldn’t change being a DYRK1A Mammy to my amazing strong little boy! I just wish I could change it for my boy so he doesn’t have to go through everything that he does daily but despite everything he goes through he’s such a happy little boy. We are so proud of him!!
Please search up on DYRK1A Syndrome and have a read.
Thank you