Medical History

• Sep 07 Kian had blood tests taken at 8 months because of the unexplained development delay, this blood test was chased up 2 months later and the result was Kian had a deletion of the small arm of his chromosome 4. This is the condition Wolf Hirschhorn Syndrome. He also has a duplicate of chromosome 8 but we were told a deletion overides any duplicate.

• Jan 08 US Renal Area Scan /Ultrasound of kidneys and bladder - The results came back fine, though we have recently been told that Kian's kidneys should be checked yearly.

• Jan 08 Echocardiography - Kian's cardiovascular examination was "entirely normal". Echocardiograph was performed and as far as doctor could see, heart was normal. Kian had a normal ECG. At 13 months we were told Kian had a small heart murmur, this is something so small we should never have to worry about.

• Feb 08 Genetics at the Centre for Life - We have a fantastic genetic doctor, fantastic as in caring, positive and knowledgable. We were referred initially by our paediatrician, as he suggested we should get tested for the abnormality chromosome in myself or Craig, so that we could think about having another child to look after Kian when we are no longer here. We no longer see this paediatrician. Our immediate and main concern is Kian. Our genetic doctor told us lots of things, but with it being so rare and the children so different nothing was conclusive. We have saw Kians chromosomes and have his caryotpye der(4)t(4;8)(p16.1or2;p23.1). In May, myself and Craig had our blood taken to find out if we had any abnormality with our chromosomes, we felt ready to do this, and that having the test done was going to be for the correct reasons for us. Our doctor called us on such a sad week, he called saying he had good news for us. We were sad as my dad had passed away 3 days beforehand. How can you receive good news at such an awful time? Well, all our chromosomes are fine, basically it was just one of those things! We go back in 6 months.

• Feb 09 Seizures - The dreaded happened. I even dreaded this before Kian was diagnosed. Epilepsy or to see anyone have any kind of seizure is awful. Kian had his first seizure. I awakened to Kian making a quiet but terrible noise, he was fitting. I called an ambulance, though I admit I called Craig first who was working in London. I think I was in shock of this happening. The 999 operater was excellent and talked myself through it all. I have saw some seizures, all my family and friends know why, but nothing prepared me for this. It was nothing big or loud but our 1 year old baby was having a seizure. My friend came around, and was great. She was there when the paramedics administered diazepam to bring him out of the fit in the ambulance by then. I was trying to function to dress, I had to talk myself through simple instructions, this was 6am in the morning which is why I wasnt dressed. This seizure happened to be 11 days after his last routine injection. Later when I spoke to our GP, she looked it up and saw that in some cases this can happen. I was given midazolam to give Kian if he fitted again, if he fits for 5 minutes then we give him the medicine, which will bring him out of it. I did hope it was just a connection to the injection but Kian had more seizures. He had an eeg, which did not show anything conclusive. Eventually after more seizures Kian was started on anti epileptic medicines, the seizures do seem to be temperature related, but I think Kian was possibly having absences which lasted a couple of seconds before that first big siezure. At this moment of time Kian has been seizure free for 4 months. This is the longest time since they began. Another WHS parent told me of her child having grommets inserted seemed to decrease seizures. I think the grommets have helped Kian though it will be said there is no evidence of this.

• Apr 08 Ophthalmology - Kian went for a few appointments at the clinic at the RVI, Kian's vision is fine, but we will go back if we have any concerns.

• May 08 Hearing - We went to our local clinic to check Kian's hearing. It was not proving that his hearing was fine, but the doctor was unsure if it was to do with the fact he had to sit on our knee as he was not sitting independently. He had passed his hearing test in hospital before we left when he was born. He was referred to the Freemon for further testing. After 2 appointments, it was noticed that Kian had glue ear. We waited 2 months to see if it would disappear on its own. On the following appointment, Kian still had glue ear and failed his hearing test. In jan, we decided with a lovely doctor that because of Kian's difficulties we would try grommets, instead of leaving more time to see if it would clear up on it' own. His appointment eventually came through for March. Kian had a seizure the night before this operation date, he had been seizure free for 3 months, we phoned the hospital and they cancelled his operation. We then got a cancellation in April. Kian went in and had an anesthestic, I will be honest and say he was very distressed in having the injection. Whilst under he had the glue drained (there was a lot), grommets inserted, his adnoids removed and had a brain stem which tested his hearing whilst under anesthetic. Afterwards he was in quite a state, I think more because of the adnoids being removed. With lax muscles being a major issue, it takes such along time to recover from things. His brain stem showed his hearing was fine but not perfect. They took impressions for hearing aids whilst he was under, incase Kian needs them. Kian has had a further hearing test which has not proved too good, so we are now involved with a teacher of the deaf who is monitoring Kian. If he needs hearing aids then he needs and will have them, but he does appear to hear, so we need to find out more.

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!