By Julie

Bethany

When Cath & Darren first told me they were having a baby I was very surprised. They’d been saving to get married and we’d all thought a baby was the last thing on the cards. I was overjoyed though, not only a grandchild to look forward to, it would be my first! Cath and I worked together so I got to see her bump growing every day; it was a very exciting time. With her partner Darren working full-time too he couldn’t always get time off work to attend Cath’s appointments with her so I often filled in. I thought it was important that Cath had some support and didn’t have to do things along, especially as they don’t have a car and manage on public transport.

At Cath’s second scan she was diagnosed with polyhydramnois, an excess of amniotic fluid. We’d always though she was large for her dates, at least now we had a reason why. She had to attend extra scans and I was lucky enough to attend the one scheduled at 34 weeks that Darren couldn’t make. Cath was huge by this time and very uncomfortable. Her bump was rock solid and she barely felt any kicking. The scan was incredible. There was my granddaughter, looking so beautiful and with, apparently, a full head of hair. It took 2 nurses and consultation with a doctor to decide that the funny shaping around the baby’s head was just hair and not anything more ominous. All stated they’d never seen anything like it! During the scan the nurse measured the depth of water Cath was carrying and it came out at 14cm. She told us 9cm was considered a lot and sent us off to the appointment with the doctor. It had always been difficult to find the baby’s heart rate because of the excess water but when the doctor finally found it the baby was tachycardic, meaning her heart rate was too fast.

He decided to admit Cath for some monitoring and steroid injections to mature the baby’s lungs, with a view to inducing labour the following week. Well I just fell apart. It suddenly hit home that my baby was about to have a baby. Unreal!  I started to cry a little and as Cath turned to me I just said “I’m not ready!” She laughed and said quite incredulously “you’re not ready? I’ve not even packed my hospital bag!” So much for being there to offer her support, she was hugging me and telling me it’d be ok. The doctor gave us a couple of hours grace to go home, pack a bag and check back in at the ward that afternoon. This was a Thursday. By Sunday morning, Cath was still in hospital and Darren was out buying nursery furniture with his dad. We were at home awaiting news. When the phone eventually rang it was Darren. Cath had rang him while he was in Ikea to say that the baby’s heart rate had still not slowed and she was being taken up to the labour ward to deliver today. What a shock! There wasn’t even enough time to process everything that was happening, we were just desperate to get to the hospital. I texted everyone in the family to let them know what was happening and promised them news as soon as I knew anything.

My husband, Ken, and I arrived at the hospital around dinnertime. Cath had already been taken to labour ward so we couldn’t see her but Darren kept us updated. An internal examination had found the baby wasn’t engaged and induced labour would have been dangerous, so emergency C-Section it would be. It was such a worrying time. Cath was only 34 weeks and I was scared for her and scared for the baby.

Our little granddaughter was born at 5:12pm on the 28th September 2008 weighing 6lbs 8oz, a good weight for 6 weeks early! We were overjoyed and very relieved. A safe delivery for both mum and baby, it couldn’t have gone any better. The baby had to be taken to the Special Care Baby Unit (SCBU) as not only was she 6 weeks early and needed to be checked over, she’d had a couple of problems that we weren’t entirely clear on to begin with.

After Cath had spent some time in recovery she was wheeled through on a bed to SCBU to see her baby. We got to see her briefly as she passed in the corridor. I was able to say a few words and more importantly, see with my own eyes that she was ok, if a little groggy from the drugs. After a few minutes spent with the baby, during which time they’d decided to name her Bethany, Cath was taken back to the ward to sleep and recover from surgery. Darren came out from the SCBU and took us in to see our new little granddaughter. There she was, surrounded by monitors and beeping, looking dwarfed by the cot she was in and bundled up against cold. I was overwhelmed by feelings of joy and pride. There was my granddaughter, such a wonderful gift that Cath & Darren had given us. I knew from the minute I saw Bethany that there was something different about her. I was really glad, all new babies tend to look very similar and I was thrilled that our little girl was something special. I’m sure all new parents and grandparents think that though! Bethany was very swollen and red, the first a consequence of the increased water pressure on her and the second because she was premature and the increased red blood cell count during pregnancy had not had the time to fall to more normal levels. And of course she has a full head of dark hair! It was kind of expected from the scan but still a surprise to see her with so much. I was desperate to hold her but we just took a couple of photos and left to allow other family members in to have a look and meet the new arrival.

To begin with Bethany couldn’t suck. This is considered normal for premature babies as the suck instinct doesn’t develop until quite late in pregnancy so it was just a matter of waiting for Bethany to catch on to what this whole bottle lark was about. In the meantime she was fed via a nasal-gastric tube, which Cath & Darren very quickly became accustomed to using. Another problem keeping her in SCBU was her oxygen desaturations. They would happen sporadically and Bethany needed an oxygen mask applying to bring her sats back up. During this early time Cath & Darren were taken into a side room by a doctor and told that Bethany had “dysmorphic features”, which were usually an indicator of a genetic condition of some kind. The doctor told them that Turners Syndrome was suspected as Bethany had excess skin on the back of her neck. What a shock. We knew Bethany was premature and had a couple of problems associated to her early birth but we were completely unprepared for that bombshell, as were Cath & Foz. They were very stoic and made the decision together that they wouldn’t read anything about Turners until they’d had a positive diagnosis. Bethany needed enough care and attention without worrying about something that may not be. I, on the other hand, couldn’t resist and my heart sank as I read all about Turners. Still, our girl was beautiful with a family that would rally round so I tried not to worry too much. It was possibly not even the right diagnosis.

The next few days passed in a blur. Cath never left Bethany’s side except to eat and sleep. She would even sit and express breast milk sitting by the cot. She wasn’t doing her own recovery any good spending those long hours sitting in the same chair but all she wanted to do was be with her baby daughter. I felt my role was to try and give her some respite, even coaxing her for half an hour at the hospital cafe was time away from the long hours at the ward. Poor Darren only had the first few days with his girls and then had to go to back to work, trying to save some of his paternity leave for when Bethany came home.

Cath was discharged after 4 days. She couldn’t face going back home without her daughter and so came to stay with us for a little while. I looked after her as best I could. We would drop her at the hospital in the morning with food, magazines and general supplies to see her through the day. She would bring the milk she had expressed every 3 hours through the previous night. We’d pick her up at teatime and bring her home for food, then back to the hospital with Cath & Darren to spend the evening with Bethany.  Sometimes we’d stay and have a cuddle with our granddaughter and sometimes we’d let them be alone. After a few days at our house Cath decided it was time to go home. Bethany wasn’t showing any signs of being discharged any time soon and Cath wanted to be in her own home and back with Darren.

Bethany was finally discharged after 18 days. She had learnt to bottle feed on demand and had suffered no oxygen desaturations for a few days so the doctors were happy for her to come home. We were thrilled and Cath & Darren were over the moon. The test for Turners had come back negative, another reason for celebration.Not long after discharge Bethany had her first check-up appointment with a paediatrician, who took one look at Bethany and referred her to genetics at Alder Hey Hospital in Liverpool, the nearest specialist children’s hospital.

The Health Visitor was the first to pick up on Bethany’s poor weight gain. She had had problems with feeding since being discharged; she would cough and choke on the milk then upset herself so much she would refuse anymore. These episodes while she was feeding would often result in sickness, Cath & Darren were despairing over how to fix it. Multiple doctors had told them multiple things from wrong bottles, trying formula instead of breast milk to Bethany just being a fussy baby. One even implied that Bethany’s poor weight gain was a result of Cath & Darren’s disregard for Bethany’s health. They were devastated and my heart broke for them. Bethany was so tiny and skinny but nobody would help them and look beyond the superficial reasons for something deeper. Still they persevered and slowly but surely Bethany gained weight, although she was still below the centile charts for her age.

Over the first 8 months of her life Bethany was in hospital 3 times, in January, March and May 2009. Each time for a chest infection with varying degrees of severity. July 2009 brought Bethany’s genetics appointment. Cath & Darren had invited Bethany’s grandparents but unfortunately only I could attend. My only thoughts leading up to the big day had been for Bethany, Cath & Darren. How they would get on and what would the geneticists find. It had never occurred to me to prepare myself for the sight of so many poorly and disabled children. To see so many children with birth defects or bald heads from cancer treatment hit me quite hard and I realised how lucky we are that Bethany is relatively healthy.

We were shown into a comfortable room, nicely decorated with couches and a coffee table instead a desk and chairs. Cath quietly commented that it looked like bereavement room and made her uncomfortable, I couldn’t help but agree. We were all very nervous and worried. Obviously we did not expect immediate answers, diagnosis could be a long process but we hoped for some idea of what could be the matter. The geneticist asked Cath & Darren to talk her through Bethany problems and the story of the pregnancy, birth and Bethany’s life so far. Then she did a through physical examination, which my lovely little granddaughter sat through quite happily. She pointed out Bethany’s dysmorphic features: widely spaced eyes, flat nasal bridge, small jaw and chin and prominent ears, of which one was not formed properly. Noted Bethany’s floppiness, diagnosed as hypotonia. It took her 7 months to support her own head and wasn’t sitting confidently until 14 months. Also her lack of growth (failure to thrive) and developmental delay, she was very obviously far behind other children her age in her milestones.

Bethany was due to go under anaesthetic a couple of days late for a small camera down her throat and Cath & Darren decided it was best to take the blood from Bethany for the tests during that, rather than upset her. At the end of the appointment Darren asked if there was anything that the geneticist thought it was more likely to be. I think we all mentally held our breath. She warned us that there was only one thing that sprung to mind when looking at Bethany, although it was only an ‘educated guess’ at this point and would take further investigation. “It’s something called Kabuki Syndrome”. Well that hit me like a brick. I could see from Cath & Darren’s reaction that they hadn’t registered the name like I had. I was so sure a gentleman Cath and myself had worked with had a daughter who died as a child, and she had had Kabuki Syndrome. I didn’t say anything, I wanted to process it myself before scaring Cath & Darren but I was so sure the geneticist had just given Bethany a death sentence. She warned us that there was no blood test for Kabuki Syndrome; a diagnosis would need to come from a team of professionals who all agreed that Kabuki was what Bethany’s symptoms demonstrated. This, she told us, was called a ‘clinical diagnosis’. The end of the appointment passed in a blur while I searched my memories for information regarding my old colleague’s daughter. Sitting in the car on the way home it came to me that she had died of Meningitis, a slight relief. Lots of children died of meningitis, most perfectly health otherwise.

Getting home I think we all did the same thing; jump on Google. As I read about the syndrome I became more and more convinced that the geneticist had been right: Bethany fit it perfectly. Not everything was correct, she didn’t have any organ problems or physical defects but the feeding problems, floppiness, developmental delay and, most importantly, her features all fit the bill. When I spoke to Cath later that day she told me Darren and herself had been pretty convinced by what they’d read too. We knew we were in for a bumpy road but on the plus side we hadn’t read anything regarding a shorter lifespan. What a relief. Two days later brought Bethany’s small camera down her throat. We arrived back at Alder Hey and made our way to the day surgery ward. The procedure was quick, only 20 minutes yet Bethany was admitted overnight as a precaution because of her tendency to have oxygen desaturations during sleep.

Bethany was there a total 3 weeks and 1 day. Whilst there she was seen by the dietician, speech therapist, respiratory nurse and numerous doctors. She had a video fluroscopy and an overnight ‘sats study’. Cath & Darren were thrilled that the staff at Alder Hey were taking them seriously and doing some serious investigations into what the problems were with Bethany, why she couldn’t feed properly without choking and why her oxygen levels would drop during sleep. At 9 months old Bethany was well overdue some answers! During this time the team of geneticists came to confirm the original suspicion of Kabuki Syndrome. I happened to be visiting when they arrived and was glad, as Darren was at work and I wouldn’t want Cath to go through something like that alone. They all trooped in the room, about 8 of them in total including the original geneticist we’d seen. They gathered around the cot and made a lot of ‘ummmm’ and ‘aahhhh’ sounds, none of them addressing any of us, only each other, using long medical words we didn’t have a hope of understanding. They asked Cath a couple of questions and did some poking and prodding, Bethany just smiled through it, the little trooper. Eventually they all began to nod amongst themselves and Cath, finally tired of their reticence I’m sure, asked the question: “so are you telling me my daughter has Kabuki Syndrome?” The answer? “Yes I think we can safely make that diagnosis.”

So there it was. Confirmation. Our beautiful little girl has Kabuki Syndrome. Since reading about it on the internet we’d been pretty convinced but it was still a shock. Cath had a good cry and I comforted her as best I could. Bethany was oblivious. She’s such a happy child, nothing fazes her. The next few days were hard, it was almost like a grieving process. Like we were grieving for the child that Bethany might never be. All those dreams I’d had for my grandchild were turning into an impossibility. I knew Cath & Darren felt the same. But that grief was tempered by guilt: as if we wished Bethany was someone other than herself. We didn’t. At all. Bethany was, and is, such a beautiful, happy, loving child and brings joy to us every day. How could we wish she didn’t have Kabuki Syndrome? That would be wishing she was someone else and we love her just as she is.

Bethany finally left Alder Hey Hospital after 3 weeks and 1 day with a gastrostomy tube and oxygen fitted at home for use during sleep. It turns out Bethany aspirates her food and so is nil-by-mouth until she is strong enough to swallow properly and not into her lungs. The oxygen desaturations are also of a frequency and duration to require oxygen through sleep. It’s such a relief to finally have some answers and know that Bethany is getting the things she needs.

Bethany is now 18 months old and since having the gastrostomy tube has come on in leaps and bounds. She’s sitting unsupported, although still can’t catch herself when she falls, and standing if you hold her. She doesn’t yet pull herself up and tolerate being on her tummy but she’ll get there. Just recently she’s started to clap her hands and wave, which is just precious and we’re very proud that she understand how to do these things. Bethany’s not letting her developmental delay hold her back. Bethany sees a lot of professionals: a physiotherapist, speech and language therapist, dietician, occupational therapist, play therapist and the usual array of doctors. Cath works very hard with her at home on exercises given by various therapists and slowly but surely we’re starting to see the results.  I try and see Bethany every day, she is my whole world and, as family of Kabuki children I’m sure you know, so sweet-natured and happy all the time. She really is a joy.

Donate

Donate to SAKKS

Thank You

Thank You

Entertainment Books

Buy your Entertainment book

Newsflash

A Dream come true for Jack

Click here to find out what happened...

Josh is a Superhero

Kabuki syndrome sufferer Josh Concilia shows the world he’s as tough as they come. Read the story here.

Sophie learns to ride

Horse rider Linda Gaffaney overcomes serious injury to teach at riding school for the disabled. Read the story here.

Ollie's Family & Friends to race

Three-year-old Ollie McKinnon has Kabuki syndrome and his family and friends will race in Herald Sun’s Run for the Kids. Read the story here.

Find us on Facebook

Search SAKKS

Login to SAKKS