“Have you noticed a rash?” As the midwife performed her new-born check she carefully asked. I had noticed it but was still reeling from his arrival. My sister had joined me for Theodore’s birth as my husband Chris, was still in Africa where he worked.
There ensued the journey of “no, we don’t think it is meningitis”, “can you see calcification?”, “yes, you are right that is brain damage”, (after this Chris arrived back), “we think it might be CMV, if it’s positive then he may need in-hospital treatment for 6 weeks”,“ his sodium level is too high, he is not getting enough milk, he needs a nasogastric tube to top him up”
“can you express and breastfeed every 3 hours?”, “his platelets are too low”, “his oxygen levels are too low, he needs to be given oxygen via nasal cannula”. “We need you to transfer to Neonatal care”, “yes you can stay”, “grandparents can visit after 11am”, “other family between 4pm and 7pm”
the CMV test is negative, we need to repeat it
“CT scan and an MRI is needed, he must stay still”, “Theodore is now anaemic, yes, most likely from the number of blood tests he has needed”, “he needs a lumbar puncture, we don’t want you to be there”, “oh, you insist, ok”, “I’m sorry to wake you but we have seen some abnormal movements, we think he may be seizing”, “he needs to be monitored, you may not touch him for 24 hours”, “ok, we have monitored him for 12 hours and we can see how distressing it is for you, we will place him in your arms for 10 minutes”, “we have another negative CMV test, we have started discussing his case with other specialist teams around the country”
it has been suggested that we test for a condition called Aicardi-Goutières Syndrome, is there any chance that you and your husband are blood relatives”
“we can move him into a cot”, “ah he got cold, we’ll put him back in the incubator, no you can’t carry him, hospital policy”, “are you sure you aren’t blood related to your husband, sorry we just have to check”, “um, no we don’t really have any way to support siblings, you could read a book to her”, “we think you should go home for a break”, “just completing that form, any chance you and your husband are blood relatives?”
Even now writing this, the thought of leaving my precious little boy makes me feel sick.
“Theodore needs to be assessed in John Radcliffe, Oxford, we don’t know how long for”, “one of you can go with him”, “one of you can stay with him in hospital”, “uh so we are pretty sure he does have epilepsy, the EEGs are consistent with inadequate brain activity for his age”, “we think it is a condition but we don’t want to tell you the name until we know”, “ oh you want to know, well AGS”, “Could you and your husband be blood relatives?”, “we need to repeat his lumbar puncture, no he doesn’t need numbing gel or sugar water, it would be better if you weren’t there, oh you insist, ok and here is the sugar water”, “I’m afraid we were unsuccessful, he moved”, “you may return to Wexham Park hospital”.
“can we go home?”,
“let’s try and sort that”.
Throughout I was breastfeeding, pump expressing, learning how to hand express and look after all the equipment which accompanies this. I was reeling from the news that my beautiful little boy was not “healthy”, the terror of losing him was painful and the fear of what the future held overwhelming. I tried to soak him up. He really was so beautiful, perfect little features and dark dark eyes. Every day seemed filled with both minor and significant pieces of bad news which was only mitigated by feeling his weight in my arms and learning everything about him.
I was missing my daughter who I was separated from for the first time in her 3 years
she was reeling too. She found the alarms of neonates distressing and was so confused that I wasn’t there to tuckle her into bed at night and that our baby needed to be in hospital. She was cared for by a mixture of grandparents and her auntie poo, all most lovingly. On my instruction bought into see us, which at least meant I could cuddle her daily, but was disorientating for her. This anxiety about the alarms meant it was fairer to her to hide in our room in the unit, thereby not seeing Theodore for long whilst she was there. Even in this traumatic environment she fell in love with him, choosing his first soft toy, a friendly fox, delighted to discover he had chosen one for her too.
Teddy, as he quickly became known was a bit wee at 5lb1oz….dropping to 4lb13oz. Somehow he felt just the right size in my arms. I have seen babies of a similar size since and they look small, how strange.
Learning about Aicardi-Goutiere Syndrome almost through internet searches because no one was willing to explain it until it was a confirmed diagnosis, was an additionally devastating process on top of a hot mess of hormones and broken expectations. My milk supply diminished with every stressful piece of news, but one of my lovely friends ensured I had lactation cookies galore. I dedicated myself to one of the only things I could control, ensuring that Teddy only had my milk, he needed the best of chances. I remember Chris realising that light comedy provided some mental relief allowing my milk to flow. He spent his time dashing from the house where he attempted to settle Constance, to be by my side on a mattress on the floor as I struggled to process the day and then the changes overnight.
Going home was such a significant transition. Although, still so much to process I remember the relief of being where we should be, there were no guarantees at one point that he would make it home and somehow 2 ½ weeks later there we were. I could make a life for him and us.
The blur of hospital appointments for procedures and checks that hadn’t happened prior to our rushed exit filled my days with Teddy, and attempting to latch and topping him up and weighing him at home. The care of the professionals around us was very special and I am so grateful to them. Chris returned to Africa after 4 days of us all being at home.
Family and friends were around and simply loved us and I approached Teddy’s introduction to life by taking him everywhere and doing everything we normally would except when I suddenly realised that I wasn’t talking to him or singing. Teddy had failed his initial hearing tests and without planning to I had gone quiet, when Chris was on one of his breaks home, he sang and Teddy reacted….he could hear!
We received his formal diagnosis. As I cried, “I am heartbroken”, I looked up to see his consultant crying with me.
We were told and untold information about his gene TREX1, “it’s the worst one”, “he has a 25% chance of dying before he is 1 year old”, “if he can’t ambulate or swallow, statistically he won’t do as well”, the barrage of bad information followed us around like a cloud, “oh, it’s not the worst one but because he developed his symptoms in utero, he will have worse symptoms”.
If I am honest much of his first year of life was survival, sleep deprivation like I had never known. Loosing the oxygen requirement was brilliant, pain and agony from his slow digestive transit was (and still is) horrible. Watching him smize, (he didn’t truly smile until he was 16 months old, and even now is a rare gift) and follow people around the room with his eyes was delightful, repeating the worst news of my life time and again was heart-wrenching and then numbing and eventually just part of having Teddy.
The day we received Teddy’s formal diagnosis I joined the Aicardi-Goutières Syndrome Support Group on Facebook. In those first few days some parents of a beautiful little boy about 2 years old posted that he had died. I was devastated and clutched Teddy tightly. In fact, that is still how I react when I hear of any of these little souls dying.
Through this group I have learnt about treatment options, research and simple tips to improve Teddy’s life. The best thing for me that has occurred as a result of this group is getting to know 2 young boys in particular and their families. Their friendship has been sustaining and enriching and their children are truly delightful. I recall telling people in Neonatal care that.
“I didn’t need a diagnosis because who cares what it is, I just love him”
What I had not realised is the doors a diagnosis opens and the people out there who can truly empathise and help you accept your new reality, of course no diagnosis changes your love, that is out of your hands. This happens without your control. How could you not love the little scrumptious scrap who folds into your arms and body, gazes at you when comfortable and arches for you when not, who is developing in beautiful little inch-stones.
Teddy is sitting beside me, comfort sucking on nothing, relaxed and happy as I write. He is now 22months old. His sister is nearly 5 and is outside picking strawberries and raspberries. We are busy making plans and living life to the full for all of us. Some days go better than others but we have transitioned from fraught, scared and shocked individuals into parents who are conscious of the balance of life and who feel lucky to have both of our children.