The Diagnosis

Kian was born at 39 weeks. We were induced and had a pretty straight forward delivery, though I didnt think that at the time. He was 4lbs 15 born and had no noticable physical problems. He had to be encouraged to feed by bottle as he at first struggled with it. He looked perfect and I had never held something so precious and small. We went home after 5 days as Kian was feeding fine by bottle and unbeknown to us there was no other concerns.

Over the next 5 months Kian slowly put on weight and was making progress on the weight centile line. He was a pleasure but with not having any other children, myself and Craig did not see any delay, though at baby groups people would just say he was small and he would catch up. Our health visitor referred us to a paediatrician at 6 months. This was because he did not have much head control, and maybe she had noticed other things, but did not say.

On our first visit we were told that Kians development was behind, but the paediatrician did not feel investigations were appropriate just yet. Our next appointment was 2 months later where we were told the developmental gap had widened. Kian was 8 months at this time and had not long rolled for the first time and could not sit unsupported. His weight was slow but it was increasing slowly. His head circumference was quite small. We were referred for investigations. Kian had lots of blood taken and we were told that if we heard nothing back in 2 months then those tests were negative.

We went back to the paediatrician 3 months after the previous appointment. Kian had made progress but the gap in development was still increasing. There was also one blood test that had not came back with a result, this was going to be chased up. More investigations could be done but it could be that Kian had developmental delay with no other explanation.

We received a phonecall at home that night to say that the blood test that was chased up had came back with an abnormality. The paediatrician would not tell us the condition of what Kian had, as he said he wanted to find out more about it. He would visit us in 3 days time. He told us that there was no cure, no treatment for Kian but lots of support would be given. What we heard that day would lead our lives into a completely different direction to the one we anticipated. 3 days we waited to hear of wolf hirschhorn syndrome and how it could and would affect our little boy. We were told Kian may or may not walk, speech would be little or nothing, epilepsy occurs in over half the children and that he would never live independently. Also myself or Craig was possibly a carrier of the gene.

This feels such a long time ago now and so much has happened in that space of time. Life does not feel sad or worthless, though receiving the diagnosis was one of the most devastating times of our lives. We are very proud of Kian, he is developing, no matter how slow, he tries very hard, and has quite a personality. We do come across many challenges along the way but our family are strong enough to deal with what arises. Things could be so much worse and we appreciate that we have Kian and love him to pieces!