Round 2: Here We Go Again

Here we go again. We are now "those" people who have the Sydney Children's Hospital Emergency Department on speed dial.

After 4 days of being a bit off coloured, during which Sean would randomly throw up a meal, my gut instincts told me to take him to hospital. So, just after 10pm on 28 January, and after calling to forewarn the nursing staff of our impending arrival, we packed everyone and everything into the car and headed to the SCH ED.

Upon arrival, we were shown straight away to an area completely devoid of other patients. The doctors and nurses assessed Sean, and after a little encouragement from us, the ED doctor on duty called Dr Paul Gray, our immunologist who we considered the "head" of our medical team. During the 10 days we'd been home since our discharge on 17 January, Dr Gray had called every second day to check on Sean. Dr Gray gave us his mobile number and told us to use it as often as we needed to, and since we were sitting in the ED, and even though it was nearly midnight, we felt a call to him was justified.

After speaking to Dr Gray, the doctors and nurses sprang into action, to get us admitted and to have bloods drawn from Sean for various tests. We sat around and waited for quite some time, before I sent Jonathan home to get some sleep. It was just as well I sent Jonathan home when I did - Sean and I were finally shown to our room at 1.30am.

Dr Gray paid us a visit first thing on Sunday morning, and outlined the tests that he wanted to do. Sean was put on a few more antibiotics to try and eliminate whatever bug he had picked up, with some being administered through the cannula the nurses put in at admission. Dr Gray thought Sean may have picked up a gastro bug, and he also wanted to check Sean's Immunoglobulin G (IgG) antibodies levels, as he suspected the levels may have dipped, thus Sean's unsettled behaviour over the past few days. Dr Gray organised the bloods to be drawn yesterday, and we spent the rest of today hanging out at the hospital.

Jonathan went to work on yesterday, and Dr Gray came around with a bunch of information for me. It appeared he had a more definitive diagnosis, having received the results from the independent testing carried out by the National Institute of Health. Sean has a rare strain of X-linked SCID - rare because compared to other kids with XSCID, Sean has an immune system. A weak immune system, but nevertheless one that has been trying its very best to fend off bugs and viruses, and the only reason Sean has survived to now before the doctors discovered the disease.

Now that the diagnosis has been confirmed, the news has brought more heartache for us. Not only do we have a very sick little boy on our hands, who may or may not survive infancy, we also had to put our plans to expand our family on hold, indefinitely, if not forever. All of a sudden, the family of four that I had dreamed of having for so long was in grave danger of never being realised.

I spent most of yesterday crying, looking for someone or something to blame. Sean was up and about and happy again, as he was full of antibiotics that were making him feel better. It was hard to watch him so active and playful, knowing he was really sick. My mind was racing to every corner and every possible outcome, and let me tell you, some of the places my mind went to were not very nice.

One of the tests Dr Gray carried out was to measure Sean's IgG antibodies levels, and Sean's levels were indeed quite low. Even though we had scheduled a day stay for an IVIg infusion on 7 February, given these results, Dr Gray felt it would be best to bring the infusion forward and give Sean another dose before he discharged us. The infusion didn't started until 3pm yesterday, and it was nearly 7.30pm by the time we were finished and ready to go home. The plan going forward is for Sean to have the infusions every 3 weeks instead of 4, and Sean will now be closely monitored to see how quickly his body metabolises the IgG antibodies.

Below is the email I sent to Jonathan's family the morning of 30 January to let them know we were in hospital again. It was in response to an email they sent to check on us, after seeing my Facebook status updates noting Sean's puking.

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Hi Mum,

We're OK, a bit tired and a little bit frustrated with the little one, but we'll get there.

Sean has 4 teeth coming through at the same time. That seems to be causing some discomfort for him. The vomiting and diarrhoea were quite concerning, so we've been admitted to hospital again. We've been here since late Saturday night, and hope to be discharged today.

The doctors have given us a definitive diagnosis. Sean has a rare strain of X-linked SCID, rare because he has a better immune system than other kids with XSCID. The doctors will do a few more tests now to determine which treatment option is the best for Sean's condition.

The doctors hope to know if there is a compatible bone marrow donor in about a week or so, in case they decide a bone marrow transplant is the best option. Considering the short amount of time between when we were discharged on the 17th to now, it's amazing what they've been able to find out!

The news brings a bit more heartache for us. Baby No. 2 may not join us any time soon, if at all. We have a 50% chance of a healthy baby without this genetic mutation, and we certainly don't want to inflict pain on future generations. It's very sad for us, as we'd both been looking forward to a new baby this year. But as everyone has told us, we need to focus on Sean and getting him better, and dealing with this disease. Now is not the time to think about another baby.

Doesn't mean I'm not sad though. I cry every time I think about it. It's so unfair. Life sucks sometimes. Makes me wonder sometimes what I've done to deserve this, and then I feel selfish and horrible because so many others are also affected by this damn mutant gene, and then I cry some more.

Sorry. You mentioned I could talk to you about anything and not just about Sean's disease. I feel fine most of the time, but it can be tiring trying to be brave and smile all the time. I don't know how Jonathan is holding up. He is trying to be brave for all of us, and going to work too. He says as long as we love each other, we can get through this.

I know life isn't meant to be easy, but I do wish it was easier than what our new life is.

We're hoping to go home today, but it's nearly 11am and the people who wanted to take more blood and snot have yet to surface. Sean's having his morning sleep so I think I'll go heat up some food for an early lunch. We'll let you know once we're home.