Would you think, looking at this little baby, that she had a rare genetic syndrome? I’m guessing not. However, ask any parent of a PACS1 child and I bet they could see the features of PACS1 here in her face. Her little rounded nasal tip, her thin upper lip, wide spaced eyes and low set ears are key features of this syndrome. To raise awareness midwives, and neonatal doctors need to be made aware (pun intended) of these features.

Ellie was born in August 2000. Immediately she struggled with latching on my breast to feed, and the little milk she did manage to digest soon came back up again, the staff in hospital witnessed this and said many babies were sick. Which yes, is true.

Back home Ellie cried, so much. She was not a happy baby. She needed constant movement, in an upright position or she was sick, there was no way she could sleep on her back, often she slept propped up on me on her front. Ellie was diagnosed with gastroesophagael reflux, this again is a common occurrence in babies with PACS1 syndrome. I stopped breast feeding her and we gave her thickened milk through a bottle, along with medication.

As Ellie grew older it became apparent to me that she wasn’t developing as the books told me she should be. I raised my concerns to the midwife, and was told to wait and see.

I can’t remember exactly how old Ellie was when my concerns about her development were taken seriously. I do remember a speech and language therapist observing her ‘not feeding’ and telling me she would refer Ellie on to her colleagues.

When Ellie was approximately 2 years old we saw a geneticist. I left that meeting feeling utterly heartbroken at the terminology he used to describe my beautiful little girl. He didn’t see the beauty in her, he saw her wide spaced eyes, thin upper lip, long fingers…I felt he looked at her like he was looking at a meal he really didn’t like, when I questioned his terminology he looked at me saying surely I could see the ‘dysmorphic features’. I couldn’t, and told him so, I could see my precious daughter, struggling to thrive and develop. I sincerely hope not all geneticists are like him. We saw him a couple more times where he took photos of Ellie’s ‘dysmorphic’ (aka beautiful) features to show his colleagues all over the world, in the hopes that others had seen similarities in other children.

We probably saw a geneticist once every 3 to 5 years, they always did the same, took more photos to show colleagues. I began to think we would never get a definitive diagnosis, not that I thought it would change anything about Ellie.

In January 2017 we had another letter inviting us to see a geneticist, I begrudgingly went along, they never had any solid advice or answers for us. However, this day they did! So, shocked, and being hit by Ellie frequently as she was so anxious in the room I was told that Ellie had PACS1 syndrome, also known as Schuurs-Hoeijmakers syndrome. I was told they didn’t know much about this syndrome and that they thought there was approximately 19 children diagnosed with it in the world. That was it, oh, I was given a leaflet too with an explanation of PACS1.

THANK GOODNESS for Facebook! I was in a group called SWAN UK. SWAN is an acronym for ‘syndromes without a name’. I asked on there what on earth I do now. Amazingly there was another parent on there whose daughter had been diagnosed with the same syndrome, she added me to a private PACS1 Facebook group. There I met another 40 families from all over the world whose children have pacs1 syndrome. And so began the journey to meet new friends who followed the same journey as we did. I soon realised that we, the parents, actually know far more than the geneticists, for instance there weren’t just 19 diagnosed at that time, Ellie was the 41st diagnosed.

Four years after our diagnosis we now have 157 diagnosed cases that we know of in the world. This is a rare syndrome, but this doesn’t mean we should be cast off to the side, and not helped, nor no research given towards it. Here in the UK I feel we are far behind understanding, awareness and research into PACS1. I am so incredibly lucky to be a part of a worldwide community where we can share our experiences. Due to this group and the sharing of information it’s become apparent to me that Ellie isn’t the only one whose gross motor skills are declining, therefore I am in talks with our gp and geneticist over the need for an MRI for Ellie. This is just one of many reasons that awareness for rare diseases and syndromes is so incredibly important.

And there ends my personal thoughts on the real need for a rare disease awareness day. Although those that know me, know I raise awareness as much as I possibly can.

Thanks for reading. See you next time ☺️.