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Sam's Story

Last Reviewed 03/02/2015

By SWAN UK Member

When I found out in August 2010 that I was pregnant we were both thrilled and terrified in equal measure! I’d only just recovered physically from a miscarriage a few weeks earlier so to fall pregnant again so quickly was a bit of a shock. However, this was very much a planned and wanted baby so I had been doing all the things we were advised to do when trying to conceive including taking a multivitamin with folic acid.

The pregnancy was traumatic with multiple hospital visits, I had suffered a deep vein thrombosis many years previously however no cause was ever identified. As a result, and as I’d already miscarried previously, I was put on daily heparin injections from 11 weeks into the pregnancy. These were to continue for several weeks after birth to ensure that both the baby and I were protected from life-threatening clotting. The injections stung badly and the duty fell on my incredible husband to administer them into the fat layer of my stomach every evening. In addition, having heparin meant I bled more easily so there were a lot of concerns all the way through the pregnancy as I bled heavily on several occasions, the baby’s movements were erratic at times and poor information given about monitoring the movements landed us in the assessment unit frequently. I was also considered very high risk as I tested positive for Group B streptococcus (GBS) bacteria throughout the pregnancy. This is not a test routinely run on the NHS despite GBS being a major cause of neonatal septicaemia and meningitis but I suffered terribly with thrush infection so the GBS was detected on a routine swab. All the concerns about my health and that of the baby resulted in me developing antenatal depression and worsening obsessive compulsive disorder (OCD). I suffered OCD prior to the pregnancy so was already under the maternity mental health team, who were wonderful.

At 35 weeks I noticed that something felt different. Having experienced severe morning sickness throughout the pregnancy, suddenly the vomiting stopped and I started to actually look forward to this baby arriving!

I was being scanned every couple of weeks due to being on heparin however the antenatal clinic was closed that week so I wouldn’t be scanned again until I was almost 37 weeks. Being on heparin meant that I was under constant care but it also meant that it was deemed too dangerous to allow me to go into labour naturally. Instead, the plan was to induce labour at 38 weeks so I would stop the injections 24hrs before going into hospital. Again, misinformation abounded – under normal circumstances a mum due to be induced would contact the hospital in the morning to check if they were ready for her to come in, the entire induction process could last for several days and even then might fail to induce labour. Because of my medical situation this would not be the case. I would be admitted once I finished the heparin and induction would begin. If nothing occurred after 24hrs I would be admitted for a C-section, however I was told multiple different things by different midwives who compounded my distress and fears.

At 37 weeks I went for a final scan to check that baby was in a good position and to confirm the induction would go ahead the next week. After a hushed conversation the lady scanning me explained that the baby’s growth had slowed, not to worry but the obs/gyn wanted to see us again.

We were then told that the baby’s growth had totally stopped and he needed to come NOW.

They were very concerned that I could be bleeding internally but not show outward signs (if the bleed was behind the placenta it would be trapped). I was immediately admitted to the antenatal high risk ward and monitored continuously – both the baby and I were monitored closely while they waited for a space on the delivery ward to become available. It was an agonising wait of 36hrs before they could get me up there, being on heparin they had to ensure that there was a theatre available with the relevant emergency staff and blood supplies on hand if I crashed during labour… all in all it was a million miles away from the calm, relaxing home water-birth I had originally thought of!

Despite getting himself stuck at the very end of birth and needing a bit of help via forceps to turn him, the birth was a remarkably relaxed and enjoyable experience (the epidural helped a lot, as did having a calm husband and a midwife determined to make me laugh!). Samuel Nathan Voisey arrived at 8.03am on Friday 15th April 2011, weighing in at 6lb 2oz and a bit. He was absolutely tiny but very long, so they had to weigh him twice as they couldn’t believe such a tiny boy could weigh that much!

Our little monkey, a few hours old

His APGARs were good and we went back to the postnatal ward around 6hrs after his arrival. Daddy stayed with us all day before having to go home in the evening to sleep. Sam stayed with me in our side-room. The heparin injections started again 12-24hrs after the birth once I’d been given the all clear by the obstetrician. However, it was at this that point things started to go badly wrong. The midwives frequently forgot about the injections and failed to request supplies and painkillers from the dispensary. Having had a forceps delivery and multiple stitches I was in agony and struggled to mobilise, as a result my legs swelled alarmingly around 2 days after birth. Still, it took another 24hrs and multiple requests to the staff before my legs were checked for signs of a clot – even then the midwife simply said they looked ok to her! Given my high risk for clotting this was terrifying and I just wanted to get myself and my baby home where we would be cared for properly. Adding to my distress, Sam was unable to latch on properly and wasn’t feeding well. I kept begging for help but the midwives said he was fine and that I was worrying needlessly. After three days I dragged one of them into the room and forced her to smell my child’s breath – Sam was lethargic, jaundiced and his breath smelled like pear drops, a sign of dehydration. All hell broke loose, Sam was rushed off for blood tests and put on supplementary feeds which we syringed into his tiny mouth. Still he wasn’t recovering and I was collapsing through exhaustion – I was expressing virtually constantly while in pain with the stitches and all the other issues. The next day I came back from the bathroom to find a healthcare worker attempting to take my son out of the room without parental consent, my husband was refusing to let her leave without me present but she just pushed past saying the baby had to do the NICU. Frantic, we challenged the midwives on the nurses’ station, to discover that the previously taken blood samples had been mishandled and he needed new ones taking, they’d thought they would take him and have him back before I returned! At that point my mother stormed into the ward and informed them that she was taking us all home as we were not safe there and a formal complaint would be issued. The next day Sam’s blood tests showed that his jaundice and dehydration were improving and his weight had gone up so we could go home. Despite the pain I was in, I pretty much grabbed my child and fled that place.

At home things improved massively. Sam was still not able to breastfeed as well as expected due to a reduced suckle reflex (common in early babies), so we cup fed him expressed milk in addition to his regular feeds. I was diagnosed with post-traumatic stress disorder and severe post-natal depression by my doctor, she was horrified by our treatment but confirmed that Sam was now healthy and fine. However, the pain I was in was a direct result of the stitches coming undone, this had gone unnoticed on several ward examinations. Sam gained weight beautifully, starting feeding much better and was a lovely little boy. He suffered reflux at night like many little ones but everything seemed normal enough.

Happy at home, 2 weeks old

By 10 weeks old however something was starting to gnaw away at me. My boy had only just started smiling and he wasn’t getting the same level of head control that other babies seemed to be developing.

His eyes seemed to deviate to the left most of the time, he had stopped tracking me or toys and he was showing little interest in playing. Our HV was lovely and we made an appointment for his eyes to be checked out but we never made the appointment.

The calm before the storm; Sam 24 hours before his first seizure

The next day at our children’s centre Sam had his first seizure.

It was short, a matter of seconds but the lady with me saw it and immediately knew something was very wrong – she was a former nurse/midwife/HV herself and called the ambulance while reassuring me that it was probably just the heat of that August day.

Sam fitted again on the way to hospital, resulting in the sirens and lights going on. I was anxious but not scared at this point, I’d let my parents know and they were on their way to meet us but I didn’t see the point in worrying Sam’s Dad or other grandparents. I just knew I needed my Mum with me. That day Sam continued to have seizures, eventually merging into a never-ending convulsive state called Status Epilepticus, a life-threatening situation where the brain can no longer stop the seizure on its own. Sam was given a loading dose of phenobarbital intravenously which stopped the seizure and knocked him out. He had already been put on antibiotic and antiviral drugs to protect against meningitis. He was so ill that evening that when an emergency CT scan was performed he didn’t need any additional sedation. Within 48 hours of that first seizure our 14 week old baby had multiple blood tests, a lumbar puncture, CT and MRI scans and an EEG. The MRI scan showed some not-quite-as-expected areas but nothing that was major like a tumour or stroke. I remember sobbing on my Mum as the neurologist told us the results as gently as he could. All I could think was that my baby might have brain damage. The EEG was clear – Sam had epileptic activity in the left occipital lobe area. Once the initial shock wore off, we thought oh well, could’ve been much, much worse and with the right medication he could be completely seizure free and live a normal healthy life as expected.

So very poorly, 14 weeks old

It became apparent very quickly that this would not be the case. Within a week of discharge we were back in as Sam had suffered multiple severe seizures and his breathing had been affected. A second EEG was ordered as an emergency and was performed on the ward under sedation. My professional role as a lecturer in physiology meant I had a clearer idea of what test results meant than many other new Mums. I will never forget seeing the EEG trace on the screen. Time stood still as I watched the chaotic trace on the screen, the brain waves were totally disorganised and massive, instead of being discreet and keeping to their own line on the trace there was so much activity that it looked like a trace of an earthquake. That was the moment I knew our little boy was not going to have the simple, normal life we had prayed for. Dear sweet God, what on Earth was happening to him?

His father and my mother were present in the room that afternoon as a giant of a registrar gently knelt down and took hold of my hands to tell me that my baby boy was fighting for his life against a catastrophic form of paediatric epilepsy called infantile spasm. Mercifully rare, this form of epilepsy is characterised by the devastating brain wave pattern I had seen on the screen, termed hypsarrhythmia (hyps), development delays and/or regression. Prognosis was bleak at best, the devastation of the hyps meaning that the brain simply could not develop until the chaos was stopped. The majority of children will grow out of the I.S. by the age of four years but most develop other seizure types afterwards which are often resistant to treatment. Sam’s neurologist explained that while it was crucial to stop the spasms as quickly as possible, the cause of the seizures was our greatest battle. The seizures themselves are devastating by the long-term prognosis depends on what was causing them in the first place. Treatment is only successful in around 70% of cases, of those at least 50% relapse. The treatment in question was in itself life-threatening; very high dose steroids, which would likely lead to dangerously high blood pressure, gastric problems and leave Sam at risk of infection as his immunity would be all but wiped out by the steroids. Not treating was not an option. We took a deep breath and transferred our tiny, fragile baby to a side room with its own toilet and shower (to keep him away from other patients and protect him as much as possible from infection). That evening we gave him his first dose of prednisolone, the steroid treatment favoured here as it is orally administered rather than by injection, and prayed.

The next few months are a blur and I still refuse to allow myself to think about them. Some memories are too dark, too painful and too horrifying to allow myself to remember. In a nutshell, the steroids failed to stop the seizures. As did the other medications and combinations that we tried. Sams neurologist was frustrated and disappointed – I.S. is so devastating that you need a complete cessation of the spasms to stand a chance of having a normal future and that was not happening. Sam suffered terrible side effects from the treatments, he could no longer smile or do anything other than fit, sleep and eat. He endured multiple invasive tests to look for a metabolic cause (all tested for were conditions that were life-limiting), all were negative. Our child was fighting for his life daily and we had no idea why.

Then at 11 months old, they suddenly just stopped. Overnight. And his smile returned the next day! However, the spasms evolved just as quickly into other seizure types as we had been warned to expect. Sam struggled with infections, he was aspirating on fluids when he fed due to his low muscle tone which led to repeated chest infections. In April 2012, Sam was admitted to hospital with influenza and spent his first birthday in a hospital ward (although the nurses made a huge fuss of him, so it wasn’t all bad!). Two weeks later he was rushed back in with aspirational pneumonia and a partially collapsed right lung. Once again, we sat my our child’s bed as he fought for his life – every illness made the seizures come back stronger and harder, Sam was stopping breathing with them and turning blue from lack of oxygen. And yet, he fought back each and every time and after only 2 weeks in hospital we were home again.

Sam cuddling his beloved bear, who comes to every hospital stay with him!

A few weeks later after a particular vicious seizure left Sam not breathing.

I was breathing for him and willing him to hold on while his Dad called the ambulance – rushed back into hospital I was too terrified to allow Sam out of my sight. When we came home the next day it was with oxygen delivered to our home (two cylinders, one upstairs in the bedroom we all shared and one downstairs, plus a portable cylinder for going out and about). At 13 months old Sam was like a newborn in almost every aspect, the seizures had ravaged his tiny brain. An EEG confirmed that the hyps had gone but the trace was still far from normal – the left side of his brain appeared worse than the right and his neurologist explained that this indicated some form of abnormality in his brain. As we had no formal diagnosis but he had so many signs of a neurological disorder Sam was classed as a Swan (Syndrome Without A Name). It was around this time that I found the SWAM UK group on Facebook and became a member. Through the shared experience and support of the many families in the group, we discovered that we were not alone and that many families live like ours without any formal diagnosis to explain their children’s conditions. During this time Sam was following a ketogenic diet to help control his seizures. 

Sam in February 2012, prior to starting the ketogenic diet

Although they didn’t stop, they DID improve immensely reducing from hundreds daily, to around 6 and the difference in Sam was phenomenal. Whereas before he was too ill with the seizures to do anything at all, now his eyes sparkled again and he was a little boy full of wonder at the world around him.

After following the diet for two months!

Sam followed the diet until August 2013 when we weaned him off of it because the side-effects were becoming troublesome for him. Almost a year on and the benefits of the diet continue, although Sam’s seizures are still not under control they have reduced to 2-3 on a good day, to around 12 when he’s unwell. He currently takes two anti-epileptic medications to keep the seizures under some form of control; Omeprazole, to control his reflux and movicol and a probiotic, to help with his gut motility. (Like many children with low muscle tone, constipation is a constant issue. Constipation also prevents the absorption of his medications so makes seizures worse. Reflux is also common in low tone children and again the pain of the reflux triggers a particular type of seizure for Sam). We still have oxygen at home and whenever we leave the house the portable cylinder comes too. We also carry a pre-filled syringe of midazolam with us wherever we go – midazolam is a powerful benzodiazepine used to stop a seizure that isn’t stopping on its own, in Sam’s case it is reserved for life-threatening emergencies such as a grand mal seizure (tonic clonic) which goes on for over 5 minutes. These are the seizures that stop his breathing so at that point it is a medical emergency. The medications themselves often have horrific side effects. One of Sam’s anti-epileptic medications has the potential to irreversibly damage his vision. Midazolam can cause respiratory arrest in children who have previously taken it without any issue, so we are always watchful of anything that could indicate that a situation is becoming serious.

I have never stopped looking for new therapies and treatments to help Sam.

He attends Brainwave (a physiotherapy-based centre) and Snowdrop (neurodevelopmental therapy) twice annually and we carry out an intensive set of therapies at home. Sam loves swimming, horse riding (hippotherapy) and being outside in his SN pushchair. Life is about as far removed from what we expected it to be as is possible but that does not mean that it is a bad life – far from it! There have been many difficult, distressing times along the way and we as a family have had to make many difficult decisions. Sam is now three years old, has a few words, is gaining the ability to sit independently for a short time, has a smile that would melt the hardest of hearts and is the light of our lives. After the hyps stole his hearing and vision, the intensive Snowdrop therapy has allowed him to regain these senses and he continues to defy the medical profession and develop skills they didn’t dare believe he could – his neurologist who has been with us since the very start has admitted to looking forward to seeing Sam in clinic so he can see how well he’s doing! Sam is in no way the non-interactive, non-verbal profoundly disabled child we were cautioned to expect, yes he has disabilities (he is unable to walk or talk just yet) but he is still Sam.

In Summer 2013 a second MRI scan identified an area of abnormal cortical development in the left side of his brain called polymicrogyria (PMG), the left hemisphere of his brain is smaller than the right and the frontal and occipital lobes are not as they should be. We have never found a cause of these abnormalities but we do know that they are developmental, happened early on in the pregnancy and are not because of anything we did or didn’t do. They just happened.

We have been warned that it could just be a one off event, genetic in origin or something totally random but we will in all likelihood never know.

In the meantime we are focusing our love and energy on Sam, to ensure that whatever his potential is he is given the opportunity and chance to achieve it. For me, having a disabled child is the most emotionally charged, difficult and rewarding experience of my life. Having Sam has shown me just how pointless much of what I once stressed about really is. He has shown me what love really means. Through Sam, we have seen incredible kindness from total strangers, met incredible people we would never have encountered otherwise and have made some of the strongest friendships of our lives. Some days it is a real struggle to not wallow in grief at the what-might-have-beens and the what-ifs and the tears still come although not as often as they did. Don’t get me wrong – I still feel sadness and grief daily that my son does not have the life that every child deserves – one free from pain and seizures but being grief-stricken will not help him. Instead, his Dad and I channel that anger and pain into determination that he will have the best life possible and use it to his advantage. It means I have become much sharper and harder than I used to be with other people; I will no longer allow myself to be fobbed off by medical persons who do not know my son anywhere near as well as I do but who still want to pigeon-hole him as “the little boy with a seizure disorder”. Sadly, I have experienced times when medical professionals have not been concerned about a seizure increase; as Sam is likely to already have learning disabilities, they don’t see that it is as urgent to stop the seizures as it would be with a child who doesn’t have a learning disability, to me that is utterly abhorrent and I will not hesitate to apply pressure to ensure that he is treated as any other child would be. I will not tolerate fools, or those who wallow in self-pity because I see daily what my son deals with and how he still manages to have a smile, giggle and a cuddle for us despite it all.

I am incredibly proud of my son and don’t care who knows it!

We're always looking for stories to share - if you'd like to share yours get in touch: info@undiagnosed.org.uk.

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