I was pregnant with Kurtis when we found out from scans that he was small and had an extremely small head, further tests and growth scans my baby was diagnosed with microcephaly. I had no idea what this meant or what was in store for my son.
Four weeks later at 36.5 weeks, Kurtis was born, taken straight from me my baby wasn’t crying or breathing, what felt like forever they passed me him and he was okay. He had to go straight down to the neonatal until to be checked as he was only 3.9oz and his breathing wasn’t great.
I decided to have a amniocentesis. Which first come back clear, after further checks we were told he had a duplication of a chromosome 1p36.2. We were told the prognosis would still be the same and he could have problems breathing and feeding, maybe even walking. They saw no future and offered me an abortion at 32 weeks. I knew my baby would be fine and declined.
Later that night I was allowed to go downstairs and see him lying helplessly attached to wires so small, he had a nasal gastric tube placed as he couldn’t suck, we found out Kurtis is blind in his left eye. After ups and downs with Kurtis’ breathing needing cpap and oxygen and his weight fluctuating, 2 weeks later Kurtis had a stridor when he was breathing and at 11:20 on the 30th July we were transported to great Ormond street hospital for an ENT appointment to carry out a check of his throat using a camera.
While in theatre the morning of 31st July, the doctor come out needing me to sign a piece of paper giving permission for them to insert a Tracheostomy and quick. I didn’t even know what it was but I signed otherwise I would have lost him. After theatre everything was surreal, Kurtis had such a small airway he collapsed during the procedure .
While at Gosh, Kurtis underwent blood tests for genetics and eye appointments. The genetic doctor confirmed he believed that the duplication or 1p36.2 was a coincidence and has nothing to do with anything Kurtis was going through, so he wanted to dig deeper and hoping all out bloods would help with this.
Kurtis had a lot of reflux and had to have a videofluoroscopy to check on his swallow to make sure he has a safe swallow and we could start introducing bottles while working with feeding and swallowing team.
Kurtis started to gain weight and I began training for the tracheostomy Kurtis was transferred to The Royal London Hospital until our local was trained to care for Kurtis. When he was 3 months we were allowed back to our local hospital, one month later all his equipment was delivered and set up and me and my mum was trained to care for him. Kurtis was now 7lb and allowed home at exactly 4 months and 2 days after birth.
Once we were home our life was so different, appointments, here there and everywhere. Kurtis was proving everyone wrong. He smiled, he laughed, he crawled, then walked. No one ever imagined any of these things would happen. He was so strong and an amazing miracle. Everyone loves him especially his older brother Alfie-Lee.
When Kurtis was one we were sent an appointment for genetics in great Ormond Street for the following month. That month went by very slow, knowing they had a diagnosis and we had no clue what it was.
When the following month round we were sitting with the genetic doctor being told our son has Stromme Syndrome. What is this? What’s the prognosis, what should we expect?
No one knew anything other that it was very rare and causes microcephaly, eye corneal, small stature and sometimes intestinal and bowel problems but Kurtis didn’t have the last two and was told it’s very unlikely he will get them without the problems being from birth.
Stromme syndrome is a genetic disorder that is caused for two carriers. Mother and father and there is a 1 in 4 chance is it affecting a person, Kurtis’ older brother Alfie-Lee wasn’t affected.
Stromme syndrome is very rare and I’m very glad we have been able to get in touch with people living with the same syndrome and find out a little more and share advice.
Kurtis is now 3 and beating all the odds against him.