MARTHA

Martha’s story begins at our 34-week growth scan (Thursday, 15th June 2017). Our pregnancy had been wonderful and all the tests, the 12-week scan and the 20-week scan came back clear and showed that we had a healthy baby and there was nothing to worry about. My sister had lost a baby through complications with the birth, so we were being monitored closely. Although the doctors couldn’t say for certain whether the same could happen to us, we were booked in for a growth scan at 34 weeks. We first knew that there was something wrong when the sonographer said that she had to fetch someone to get a second opinion. We tried to remain calm and hoped it was nothing. The sonographer returned with another medic and we overheard them saying that the baby was large and in a breech position. Her father is tall, so we weren’t concerned at this point. My mother is a retired midwife, so I wasn’t really concerned about the baby being in a breech position. After the scan, we were then asked to wait for a doctor in another room. It was at this point that I think we both knew that something wasn’t quite right. We were asked how quickly we could get to our nearest maternity hospital and that they were waiting for us to conduct another scan. We drove straight there and I don’t think either of us spoke. I cried all the way there and thought how could the same thing happen to the same family twice (my niece was a large baby). We waited for what seemed like a lifetime for this other scan. The sonographer didn’t say a word during the scan and we just let him get on with his job.

We were then escorted into a room with a comfy settee and tissues on a table. I knew at this point that we were going to be given some difficult news. He explained that the baby had a large brain due to excess fluid (hydrocephalus) and that the baby’s ventricles were enlarged (ventriculomegaly) and could be putting pressure on the brain. He did say that it could be due to a number of different things, ranging from a simple infection to cancer. He mentioned that the baby might need to be delivered at a more suitable children’s hospital and would possibly be in neo-natal care when it was born, if it survived the birth. At this point, we had never heard of Smith-Kingsmore Syndrome. We were referred to our nearest children’s hospital for a further scan and they would be able to give us more information. We just had to wait for an appointment. At this point, we were slightly relieved because it didn’t seem to be an emergency. The following day, whilst at work, my waters broke. I was admitted to hospital immediately given the baby’s complications. I was given steroid injections ready for an early delivery. Thankfully, they were my hind waters and labour didn’t start, meaning that the baby was still safe. It was decided that I would stay in hospital until the appointment for the children’s hospital. The appointment was on the following Wednesday. We arrived at Manchester Children’s Hospital with anxiety, anticipation and a great deal of hope. We waited to go in for the scan and parents were being escorted out in tears, which made us feel even worse. We went in for the scan, which was a lot more detailed. A neurosurgeon was also present in the scan and they both had a really good look and were talking, so we left them to it. We tried to listen to what they were saying, but didn’t understand to be honest. After the scan, we were once again shown into a room with a comfy settee and a box of tissues. We tried to remain positive, but again the wait was a killer. A nurse did come in and offer us a coffee whilst we were waiting. When they both came into the room, they said that they were happy for the baby to be born at our local hospital and that a neo-natal team would need to be there for delivery. The baby’s head circumference would also be monitored after the birth. They echoed what had been said about the baby not surviving the delivery, but that everything would be done to try and prevent this from happening. At this point, by law, we were offered a termination. However, we both believe that everything happens for a reason and there was every chance that the baby would survive. They then told us that it would be a caesarean delivery, given the size of the baby’s head. We were a little disappointed at first, but then we soon realised that it was in the best interests of the baby. The following day, we had an appointment with our local hospital and the caesarean was booked for Friday, 30th June. This would mean that the baby was 4 weeks premature, but given everything we had been through and the size of the baby, they said it was for the best. The following week was spent preparing for the arrival of the baby, attending monitoring appointments at the hospital and the pre-op. It felt very surreal that we knew when our baby’s birthday was going to be. It was hard to be excited about the birth given that we knew of the complications involved.

The night before the operation, I don’t think either of us got any sleep. I woke in the early hours with stomach cramps and put it down to nerves. However, they continued and I started to get a little concerned. I contacted the hospital and they said to go in a few hours earlier than planned and they would check what the issue was. The journey to the hospital was once again filled with anticipation, excitement and worry. Whatever the outcome, we were going to finally meet our little baby and become parents. On arrival at the hospital, I was checked over and was told that I was in labour. I couldn’t believe it. I was secretly hoping that I would be allowed to deliver the baby naturally, but they said that they would bring forward the operation. We had to go for another scan to check which way the baby was lying and whether it was still in the breech position. This wouldn’t have affected the operation, but they needed to know where the baby’s head was. I was taken to theatre and given the epidural, whilst squeezing a cushion and a surgeon’s hand tightly whilst having contractions! We were also introduced to the neo-natal team and all the other people in the room. I don’t remember speaking to Alex during the operation, but I remember the surgeon having to stand on a stool because she was really short and they were talking about their plans for the weekend. Surprisingly, this made me feel calm and relaxed. As the baby was born, Elton John’s ‘Sacrifice’ was playing on the radio and the scream of the baby was the best sound we have ever heard. The baby was alive. Martha Hope (her original middle name was going to be Grace, but when we found out about her complications, we changed it to Hope) was born at 10.53 on Friday, 30th June 2017, weighing 7lbs (3170g) and measuring 54cm in length. She was delivered at 36 weeks. Alex cut the umbilical cord and I was shown her and she was then taken by the neo-natal team, but we could see everything that they were doing. After some time, they then brought her back over, handed her to Alex and said that everything was fine and that they were going! We couldn’t believe it. After everything we had been through, we were finally a family with a happy, healthy little girl. I was able to breast-feed her and do everything other mums were getting to do.

At this point, I think that we both assumed that everything was okay and there was nothing to worry about. Yes, her head was being measured every few days and although it was above the 99.6th centile, it wasn’t growing massively out of proportion and her dad’s head also measured in the same centile. At 4 weeks old, she had a CT scan and an MRI scan to check her ventricles and the excess fluid and nothing alarming was found. She also had scans done on her kidneys and hips and they came back clear. She also had genetic testing done, but again this came back clear. The paediatrician did notice that she had short arms and coarse facial features – her philtrum is long and her ears are low, but he said that that could just be who she is. We were thrilled at how Martha was doing. At about 6 months old, the health visitor and her paediatrician noticed that she wasn’t reaching some of her milestones. However, they did say that because she was 4 weeks premature, that there would be some element of delay in her development. Martha had a second MRI scan done at about 8 months old and this showed that her ventricles had actually decreased a little. The neurosurgeon would have signed her off at this point, but he did notice that there were two small cysts – one in her brain and one under her tongue. He was not concerned about the one in the brain and said that they were very common and often benign. However, he referred her to ENT about the cyst under her tongue. However, they weren’t concerned and again said it was very common and nothing to worry about it. At 10 months old, we saw her paediatrician and he noticed that her legs were a little ‘floppy’ but we were told it was nothing to worry about. She then rolled over for the first time, which was a massive achievement for her. Due to the size of her head, she struggled lifting her head up and hated tummy-time. Her health visitor became further concerned about her development and that she seemed to have weak muscle tone (hypotonia) and seemed to be very flexible (hypermobility) and we were referred to physiotherapy, which she started in June 2018, aged 1 year. She was unable to stand and take her own weight. She wasn’t sitting at this point either. She started to sit on her own at 14 months. We were so pleased because we never thought that this would happen. All her appointments and therapies continued, but yet we still didn’t have any answers. In April 2019 (aged 22 months), we saw her paediatrician and he confirmed that she had a global developmental delay and the behaviours she was displaying were that of a child aged 9-10 months. He also said that she would never catch-up to her peers and would always be ‘behind’ other children her age. Although she was hitting her milestones, it was at her own pace and very slowly. We were then referred to occupational therapy, as she was getting too large for her pram and we were struggling lifting and handling her. She was not able to move, so we were having to do it ourselves. In July 2019, she had her third MRI scan, which came back clear. In September 2019, she was fitted for a lycra suit, which would help her mobility. After a couple of weeks of wearing the suit, which she had to wear all day, she started to bum-shuffle and finally became mobile. At this point, she was still non-verbal and we were then referred to Speech and Language, which was delayed due to the Covid pandemic. In April 2020, we had our first SALT consultation, which had to be done over the telephone. During the pandemic, we found it really difficult to get appointments and therapy for her and we were expected to do more ourselves. This was tough as we were both working throughout.

As we approached 2021 and another year in lockdown, appointments and therapy started to happen once again, but we still didn’t have an answer as to what caused Martha to be like she is and there were no guarantees of whether it would happen again if we were to have more children. At this point, we decided that Martha had to be our priority and that we wouldn’t have any more children. We were so lucky to have her and it would have been very difficult looking after Martha and a new-born. In May 2021, Martha experienced a febrile convulsion, as she has always struggled with her body temperature. Since being a baby, she was always very warm and never needed to be swaddled. In November 2021, we had to get prescription nappies for her, as she outgrew supermarket nappies. As she couldn’t stand and had no idea of when she needed the toilet, potty-training was never a possibility. The gap between her and other children her age was getting wider and more noticeable. She was meeting the milestones of a 10-11 month old child.

Although previous genetic testing had shown nothing, we were invited to another appointment to discuss taking samples of Alex’s and my blood to see if there was something that we were carrying that had passed onto Martha. This had only been possible this year, so in December 2021, we attended the appointment and all three of us had our blood taken. We were told it would be a while before we had the results due to the nature of the testing. On the 24th October 2022 we had a virtual meeting with Martha’s genetics consultant to discuss the results and after over 5 years of tests and negative results, she was finally diagnosed with Smith-Kingsmore Syndrome. All the medical professionals involved in her care had said that they had never come across a child like Martha before and that she was very unique. Now we had the science to back that up. Although we were relieved that we finally had an answer and it wasn’t anything life-threatening, it has left us with many more questions and doesn’t really tell us what her life will be like as she gets older and whether she will be able to walk and talk in the future. We are still having to take each day as it comes. One thing for certain is that she has changed our lives for the better and although we have lots of ‘downs’, the ‘ups’, her smile and her determination make it all worthwhile. She is a happy little girl who has a heart of gold. She has no idea, and maybe never will, of how much she is loved and how special she is.

Written by Rebecca and Alex, Martha’s parents