We had no idea anything was out of the ordinary all the way through my pregnancy with Katie. All the scans were fine and she seemed to be a normal, healthy baby. The only thing was that at about 31 weeks I started to feel like I was getting very big and was looking forward to the end.Then suddenly at 33 weeks my waters went when I was lying in bed at 7am. Graham, of course, had been away the night before so I phoned him to get home quick!!
Once he got home we went straight to hospital having had to ask my neighbor to look after the other 2 children as we have no family anywhere nearby. By the time we got to hospital I was having contractions. I still wasn’t really worried though – I thought 33 weeks was early, but not massively so, and so I assumed everything would be fine.I was scanned and it was discovered that there was a lot of fluid around the baby’s abdomen. It was decided this could be caused by the baby being anaemic and it would then need a blood transfusion. After a lot of to-ing and fro-ing we were ambulanced up to Kings with the blue lights and sirens in case I started to give birth en route. At this point, I still wasn’t overly worried. At King’s we had scans done by increasingly senior staff and it was decided that the baby was not anaemic.
I just kept asking them all not to tell me if it was a boy or girl – having got this far I didn’t want to find out. We were then told that the fluid could be caused by several things –and that if it was a chromosome or genetic problem the baby usually doesn’t make it. That was devastating news of course. They recommended trying to drain some of the fluid and deliver the baby the next day. Then we were bluelights and sirens back to Medway. I got very upset in the ambulance when it hit me I was going to have to tell Harry (aged 4 at the time) that the baby had died. Graham had to go home and I stayed on the labour ward. I couldn’t sleep that night and walked around my room crying – I couldn’t believe this was happening. I didn’t get much sleep at all. In the morning 2 doctors from Kings took lots of measurements and did very detailed scans. We were told that the alternatives were to drain some fluid from the baby and deliver straightaway or to do nothing and leave the baby for another week to develop. But if we did nothing the baby could die in the meantime as there was obviously a problem. Draining fluid could bring on labour and as my waters had already gone they recommended draining and delivering.
Holding the baby still with the ultrasound probe and using a needle through my tummy, the consultant drained 140mls of fluid from the baby’s abdomen. It wasn’t the right colour to indicate a ruptured bowel, or any other problem which would be bad but at least treatable. We then went back upstairs to prepare for the birth. It was quite surreal with upwards of 20 people in theatre, some for me and a lot from SCBU. When the baby was born I lost 4 litres of water in addition to what I had been losing for over a day – hence the reason I had been feeling so big and uncomfortable! At some point someone told me she was a girl!! Once I had some feeling in my legs and could get into a wheelchair I was taken to see her in SCBU. She was born on Thursday afternoon. I went home on the Monday and we finally gave her a name just before we left. I couldn’t leave her in hospital without even a name!! So she became Katie Mae.
We tried to get back to see her every day but it was an 80 mile trip and we obviously had 2 other young children, added to which I couldn’t drive for the first few weeks. Friends were brilliant, taking me to hospital and babysitting etc. Katie had a lot of tests as no one really knew what was wrong. I clung to the hope that nothing was – the fluid was ‘one of those things’ and she would be just fine. The doctors mentioned ‘dysmorphic features’ – I didn’t even know what this meant but when I looked it up I was very cross- my baby looked perfect to me. Also she was still so puffy I couldn’t really see how they could tell if anything looked normal or not.
I remember one of the doctors saying they hadn’t ruled out the possibility of her coming home. This was progress from what we had been told the night before she was born, but looking back, no one ever told us she would live. In hindsight that caused us a lot of problems later on.All the tests kept coming back normal. But a potential problem with her kidneys was discovered as well as several issues with her heart. She was also referred to a geneticist. One of the things they mentioned was Kabuki Syndrome. In the meantime we were trying to get Katie to feed. She had an ng tube but would accept a tiny amount of expressed milk from a bottle. I was told she couldn’t come home until she was feeding properly. We got very frustrated when no one seemed to be pushing her to try a bottle and at one point I was told it could take months for her to feed. That was a very low point. Among all this, somehow in one of the best neonatal units in existence, Katie caught MRSA.
At 7 weeks Katie was moved to the special care nursery. Although this was progress, we were told that she needed to be switched to a high calorie formula – another blow as I’d always felt, as long as I was expressing, I was at least doing something for her – now it seemed even this wasn’t good enough. After a week in the nursery we were told we could take Katie home that week as long as her appointment at the Royal Brompton didn’t show a need for any further immediate action. This was hugely exciting and the hospital arranged syringes, milk – everything we needed to bring her home. But then unfortunately the Brompton said her heart needed urgent surgery. We decided Graham would go with Katie for her surgery and I would stay at home with the other 2 children. This was very brave of him – I don’t know how I would have coped. The operation was made even more stressful than expected by a catalogue of errors made between the 2 hospitals which meant they were sent home from the Brompton only to be called back again immediately. But on 10th July Katie had surgery to try and repair her aortic valve. She stayed in PICU for 2 weeks then came back to the hospital where she was born for a week and finally came home, aged 12 weeks 1 day, on the 30th July. Then we started the still ongoing round of appointments – Speech & Language Therapist (SALT), physio, occupational therapist, dietician, health visitor, community nurses, portage. We had no idea this would be the way of life for the future – I somehow thought they’d all see Katie, sort her out and that would be that.
In August we went back for a heart scan which showed that the surgery had not been successful so Katie would have to be monitored by the cardiologist.The September after Katie was born we saw a lovely geneticist at Guy’s. He talked us through all sorts of things and again mentioned Kabuki Syndrome. He told us that a gene causing it had just been identified so we agreed to have Katie tested.In October Katie was hospitalized with bronchiolitis. When she came home she refused to tolerate either her dummy or the tiny amount of milk she had been managing. From then until the present day she has refused any food or drink whatsoever. One of Katie’s biggest problems, which we have since discovered is a fairly common Kabuki trait, is reflux. Katie could be sick up to 20 times a day. We tried various reflux medicines but none seemed to do any good – the sickness would just come and go for no discernible reason. This is just typical Katie – she doesn’t do things like a normal child eg feed, but she does her out of the ordinary things in an odd way too. For example we discovered that rather than letting her milk feed through a syringe by gravity, Katie tolerated it better if we pushed it through quickly. It couldn’t be the case, but it almost felt like her tummy had a chance to accept it before her brain registered it was there. She also tolerates feeds better lying flat on her back than sitting – again, that’s just Katie!! We had a lot of trouble with the ng tube; Katie would pull it out, or vomit it up. By the end it took 2 of us to replace it each time as she hated it so much and fought so hard against it. It wasn’t unusual to have to replace it 10 times a day. In November we were back in the Brompton for a further procedure on Katie’s heart, which was also unsuccessful.
In January, March and May Katie was hospitalized again with aspiration pneumonia. March was the worst episode – she spent 3 weeks in the Brompton on a ventilator. With exceptionally bad timing we got the call to confirm Katie did definitely have Kabuki syndrome last March, the day before she was admitted to hospital and put on a ventilator. We didn’t have time to assimilate the information and then she was taken away and stayed in hospital for 3 weeks. Although that was awful, at the same time it afforded us a much needed breathing space. With Katie effectively in a coma in London and completely unaware of anything, we were able to devote some time to the other children and I think the shock of Katie’s birth and first 10 months hit us. We realized how much we were struggling and finally that we needed help.
Katie has always had very runny nappies – again a seemingly common Kabuki trait – which has led to her having permanent nappy rash. By April last year, when Katie was 11 months old, she was having 19/20 nappy changes a day and vomiting about 12 times with her tube coming out on about half of those occasions. Her milk was changed then to Neocate Advance which, if it hasn’t solved the problem, hasn’t made it any worse either.
In September last year Katie underwent a gastrostomy. This had first been mentioned the previous November as she was totally refusing anything orally, and naively I thought it might be done by Christmas!! But we had to have a videofluroscopy done and then a ph study and then it was further complicated as Katie can only undergo a general anaesthetic at the Royal Brompton because of her heart. So we had to coordinate a surgeon from the Chelsea & Westminster to operate at the Brompton. Katie is much happier since this procedure was carried out. It hasn’t necessarily affected her reflux but at least we do not have to replace a tube several times a day.
I spent a lot of time googling Kabuki Syndrome, both before we had the diagnosis and afterwards, and everything I found depressed me more and more. Luckily I am blessed with the best friend in the world and she found a lot more positive information for me which I hadn’t found at all. Through the sites she found I contacted Gem (and Thalia) and Sally (and Harry) and suddenly I didn’t feel so alone. Being in touch with other Kabuki families has made such a huge difference to our lives. We think the children are all absolutely beautiful and love to see all their various achievements. We hope that anyone receiving a diagnosis today would find information and be able to contact other families easily and not have to feel as isolated and scared as we did. Katie’s list of medical symptoms includes the following (I may forget a few!!)
Severe Aortic Stenosis
ASDIdiopathic non immune hydrops
Long palperal fissures
Fetal finger pads
Deep set fingernails
Slightly unfolded ears
Bilateral Duplex Kidney system with reduced function in right kidney
Low T cell numbers
Katie is now almost 2. She will need to have her heart valve replaced in the not too distant future but we will worry about that when it happens. She has just this week started crawling and is such a happy and good natured little girl – we all love her to bits!