The Big One

June brought the biggest development in Bethany's life to date; her diagnosis.

Our first genetic appointment was on the 24th June. We'd been warned, obviously, by various medical professionals that Bee may have a disorder of some kind so we felt we were prepared for anything they might tell us. Plus we knew that the initial appointment was unlikely to yield any real answers as it would just be information-gathering and examinations. It would probably be months before we made any headway with a diagnosis.

Meeting the geneticist wasn't nearly as scary as we had imagined. She was actually really friendly and reassuring, not the severe-looking doctor with the stern manner that we were expecting. Still though, that did little to calm our nerves. The outcome of these meetings would have a huge impact on all of our lives.

My Mum had accompanied us to the appointment, everyone else was in work. On arriving at the genetics department we sat in a small waiting room and tried to guess which Bethany's doctor would be from the photos on the staff 'who's who' board. After a short wait we were met by Bethany's doctor and the genetic counsellor assigned to our case and led from the department and back the way we had came to a private room just off the main corridor. It was a lovely room, nicely decorated with fake flowers and comfortable chairs. I couldn't get the thought out of my head that it looked like a bereavement room. All through the appointment I kept wondering to myself how many families had been in this room after learning their child had died. A sombre thought.

The geneticist asked us a lot of questions, not only about Bethany but about the pregnancy and birth too. We'd repeated the answers to these questions so exhaustively to so many doctors that I could almost answer in my sleep. She then asked if I could lie Bethany down on my knee while she gave her an examination. Nothing intrusive, just a closer look at some of Bee's features and a wiggle of her limbs, that kind of thing. As Bee was due to be going under anaesthetic two days later for a endoscopy it was decided that blood would be taken then instead of putting her through the trauma of it during the appointment. I was glad about that, after waiting 9 months another 2 days would not make a difference. Bethany is notoriously hard to get blood from, I've never once met a doctor that can do it on the first go and it's such a stressful experience for her. She screams and screams usually.

Coming to the end of the appointment we asked the geneticist if there was anything she could think of that Bethany's symptoms pointed to. We've always found in the past that doctors are less than forthcoming about possible diagnosis, whether that be something genetic or something as simple as a viral infection. It's almost as if the litigation culture we live in makes doctors afraid to hazard an opinion before there's any hard evidencein case they are wrong and we decide to sue. Not that we ever would of course. It can be frustrating as it leaves you clueless and guessing for much longer that is strictlynecessary . We found Bee's geneticist refreshingly honest and told us there was only one thing that jumped out at her from her examination of Bethany. She warned us that not all genetic conditions can be found using blood testing, some require a team of geneticists to examine the patient and make an informed decision about a diagnosis. Although she told us not to, as it was just an educated guess, we could help but jump straight on theinternet when we got home to read all about the syndrome she had suggested.

Two days later, on the 26th, Bethany was booked in for an endoscopy. The procedure involved having a camera down her throat to see if we could make some headway as to why Bethany struggles with swallowing and 'pools' thesaliva she produces in the back of her throat. As she has always had trouble eating, breathing and swallowing this was quite an important day for us, we really hoped this procedure would finally bring us some sort of answers. Before the op we informed the surgeon and the anaesthetist that Bethany has oxygen desaturations in her sleep and it was decided that it was best to keep her in overnight for some monitoring, just to be on the safe side. Carrying Bethany down to the surgery and having to watch as they put her to sleep was such a difficult experience. She cried as they held the mask to her face and I wanted nothing more than to pick her up, cuddle her and make the horrible doctors go away. But I had to be content with stroking her cheek and trying to whisper comforting words in her ear while the staff busied around me and generally made me feel like I was in the way. She was stillwhimpering as I was ushered out of the room, crying and clutching her dummy and teddy like a talisman. Foz was at the surgery doors, ready to receive me from the accompanying nurse. We headed back to the ward to collect my Mum and go to the cafe to wait with a fortifying cup of tea.

Bethany was gone for approximately 20 minutes. That's only a half of a half of our beloved RL but that day it seemed to go on and on. As we were standing and making to head back to the ward to finish our wait the nurse appeared in the cafe to tell us Bee was finished and ready to be collected.Foz and my Mum waited at the doors while I went in to collect her. She was tightly wrapped in a blanket and crying weakly as a nurse cuddled her. I took her in my arms while the nurse explained that everything had gone well and the surgeon would come up to the ward in a little while to go through the surgery with us. I gave Bethany the dummy we'd brought with us and took her to her waiting Daddy and Grandma.

We were taken to ward L2, the ENT ward and shown to Bethany's allocated cot. She was hooked up to a sats monitor and we settled ourselves down to wait for the surgeon, who arrived a lot quicker than I was expecting. He found during the op some skin was a little tight around one of the tubes in Bethany's throat so he snipped it to loosen it. Blood was also taken for the genetic testing. Other than that everything had looked fine. He gave us a sheet of A4 paper with 3 camera shots of Bethany's throat. One before the procedure, one after the snip and the third showing the entrance to her lungs which was nice and wide, so not causing her oxygendesaturations . We were relieved all had gone well but concerned that we'd really had no answers from the experience. However, that was not the surgeon's fault. He'd been friendly, reassuring and attentive and we were very grateful to him.

That evening Bee seemed ok, if a little irritable. She had some oxygen but hadn't seemed to suffer any great effects from the whole thing. The dietitian came to see us as Bethany has Failure to Thrive, a term I'm sure was invented just to make parents feel bad, and said she was unhappy with Bethany's weight. Great. So were we. Hopefully she would now try and help us sort it out. The downside? We'd be stayingin a little longer for some tests. Not that that was anything new to us, we were getting quite used to hospital time. It gets lonely and very boring but Bee takes it all in her stride, charming the nurses left, right and center. The following couple of days Bee seemed to take a turn for the worse and couldn't keep anything down. As always when this happens, she started to lose weight so thedietitian recommended (and we agreed) that Bee should have an NG tube fitted up her nose to be tube-fed. Of course we were old-hands at the NG , Bethany had had one in special care when she was born. But then, unlike now, she was too tiny to know anything about it. Now Bee has an inquisitive nature and littlegraspy hands, not a good combination with an NG . By the time we'd finished taping it securely to her face, to stop the stress of her pulling it out and having to have it re-fitted, she looked like she was dressed for a Halloween party. Cute as ever though. However uncomfortable andinconvenient the NG was it worked, Bethany stopped vomiting so frequently and started to slowly gain weight.

A few days in she was given a sats study, which isn't as academic and complicated as it sounds. She was attached to a sats monitor that recorded her oxygen saturation through the night 'in air', meaning without any oxygen assistance. It was then sent back to the respiratory team the following morning to be downloaded and looked at. The goal was to remain above 95% oxygen through the night. On a good night Bee sits between 85-90%. On a bad night she can drop as low as 78% and her lips go blue. It's been a source of constant worry for us. Every time we have a hospital stay she does this yet we're always sent home and told "not to worry" and "maybe it's normal for her". The sats study was well overdue. When the test came back the following day she had (unsurprisingly) failed it and from that day on would sleep in 0.5l of oxygen.

Now to tackle her feeding problems. Bee has always struggled with feeding, right from her birth. She coughs, chokes and eventually vomits when taking milk from a bottle. Of course health professionals had given us a variety of reasons for it from reflux to a fussy baby. None of them sat right. On the request of thedietitian the speech therapist came to see us. She asked if we'd like a video fluroscopy for Bethany, which sounded very medical and complicated. She explained it was an x-ray video of Bethany eating First solids, then thickened liquids and finally regular liquid. Hopefully this would pinpoint where Bee is having a problem. I agreed straightaway. It was booked for the followingFriday, a full week after Bee was admitted.

When Friday rolled around I had to starve Bethany before to appointment, to make sure she didn't refuse the food. I dressed her in a sleep suit, placed her in the pram and headed down to the x-ray and ultrasound department. The set-up was nothing like I had imagined. There was a screen set up with a chair placed up against it. In the chair was a baby seat, ready for Bee to sit in. Facing the screen was a large x-ray camera. All very complicated looking. I placed Bee in the chair and strapped her in. All the food from solid to liquid was a pure white colour. Not the almost translucent off-white of food and juice but pure white, almost like paint. I started with the solid and all was well so moved on to the thickened liquid. I worried the whole time that she wouldn't struggle at all and the test would reveal nothing. But she didn't let me down and started to cough. I stopped and looked at the speech therapist for guidance but she was in whispered conversation with her colleague, which I caught the tail end of: "...coughs and self-corrects." She caught me looking and tld me to move on to the plain liquid. True to form Bee didn't let me down. She coughed and spluttered like a trooper. It sounds awful to be pleased about it but I needed the speech therapist to see what Bee goes through every day just to eat. She was studying the monitor when Bee started to cough and immediately told me to stop.

The study showed that Bethany is aspirating food into her lungs, meaning that when she swallows she's allowing a little bit of each swallow to go the wrong way and pool in her lungs. This is what's making her cough and choke. With solid food, as it's slow moving, Bee has a cough and it comes back up and heads the right way. As liquid moves so quickly it's already in her lungs before Bee even coughs, which obviously is not good. The speech therapist suggested that the best course of action would be to give Bethany solids as normal but to have top-up milk feeds via a gastrostomy, which would require a procedure to be fitted. We were devestated. The thought that your child needs a tube just to eat is awful. It's such a basic function of life but Bee's body just does not co-operate with her. After a lot of heart-to-heart and discussion it was agreed: Bethany had her gastrostomy on the 15th July.

Once the gastrostomy was fitted there was nothing keeping us at Alder Hey, we'd been in just shy of 3 weeks and I was really ready to come home. However Bee had a bad few days after the op. She cried most of the time and vomited a lot. The doctors wanted to be sure she was coping with it before sending her home. We finally got the ok 3 days later, on the 18th and my good friend Stu came to collect us. We were finally going home, 3 weeks and 1 day after being admitted.


Not before we'd had one more piece of news though: Bethany's genetic diagnosis. About a week after being admitted I was sitting in Bethany's room. She was sleeping and I was reading a magazine. There was a light knock at the door and 6 people, plus Bee's shift nurse all walked in. I recognised Bee's geneticist and the genetics lady that had been in her CranioFacial appointment. The rest introducd themselves as members of the genetics team and asked if they could have a look at Bethany. I agreed of course and they all gathered around the bed. Bee's geneticist stood back and listed the symptoms of the syndrome that she'd found in Bee. They all leaned over and one had a good poke and prod and woke her up. there was a lot of "hmmmmm" and "aaaahhhh" noises and long medical terms I didn't understand. Bee's geneticist asked me if we'd read about the syndrome when we went home, I told her that we had and we were pretty convinced she'd made the correct diagnosis. The other geneticists all nodded in agreement, although nobody came right out and said it. I had to ask: " so are you telling me Bethany has this syndrome?" The response? "I think we can safely make that diagnosis". And with that they all left and we were alone. Alone but with an answer. Bethany has Kabuki Syndrome. I sat and cried. Reading about it on the web and recognising Bethany in the descriptions isn't the same as being told, for certain, your child has a genetic syndrome. I was not as prepared for those words as I thought I was going to be. It's a difficult process, learning your child is technically disabled and may never lead a full and normal life. It's almost like a grieving process. When you're pregnant you have so many hopes and dreams for you child, the life they'll lead, the things they'll do. To find out your child may never do any of those things, or even have a decent quality of life, was devestating. Then came the guilt. How could I feel sorry for Bethany and ourselves when feeling like that surely meant I wished my child was 'normal', which of course I would never wish bethany was anything other than herself. Without the Kabuki Syndrome(KS) we might not have the beautiful little girl we've got, but a different child. It's a complicated set of emotions and we're still feeling them. The grief and the guilt.

Still, there was no denying it. When reading through the web information we'd identified at least 22 symptoms that Bethany displayed of Kabuki Syndrome. The geneticist told us that 5 symptoms is a lot. Some of the more prevalent features that Bee has:

• Dysmorphic features
• Specific eye shape
• Hypotonia
• Failure to thrive
• Developmental delay
• High arched or cleft palate
• Long eyelashed
• Down-turned mouth
• Micrognathia (small mouth)
  
• Microcelephaly (small head)
• Clindactyl
• Feeding difficulties
• Breathing difficulties
• Blue sclerae (white part of eye)
• Malformed and prominent ears
• Prominent (pointy) finger and toe pads

There are many more and there are many that don't appear until later childhood into adulthood so we won't know how it will affect Bee completely until she is older. Thankfully she seems to have been spared the most severe of the symptoms of KS: heart and kidney defects and skeletal abnormalities. As we can hope is that KS also spares her the more severe mental symptoms like learning disabilities. But whatever happens Bethany is our whole world. Getting the diagnosis has made us even more protective of her and determined to give her a great life as she may not be able to go out and do it for herself.