© Mowat-Wilson Syndrome Foundation
Jethro was born on 23 February 2007 after 40 hours of labour and a natural birth. He was diagnosed with Multi Cystic Dysplastic kidney when I had my 20 week scan so we knew early on that there might be further problems. I had refused an amino synthesis at my 12 week scan even though it is recommended to pregnant mothers over 35 years old in New Zealand, but I had to have one at 21 weeks to check for chromosomal abnormalities because in the 20 week scan there was evidence of fluid around his heart. The test came back negative.
The rest of the pregnancy was unremarkable.
The first thing I noticed when he was born was his ‘penoscrotal transpositioning (hypospadias) and when the pediatrician listened to his heart within minutes of him being born, he heard a pronounced murmur (his heart swishes rather than beats). We were immediately sent for a scan and he was then admitted into intensive care at Auckland Hospital as the pediatrician wanted his heart monitored. He had a hole between the ventricles and a hole between the atria and a pulmonary stenosis. During the 6 days we were in NICU Jethro underwent a lot of further testing, they did an ultrasound on his kidneys and discovered that his left kidney was not present and had been reabsorbed into his body. He had a scan of his entire spine as he had a deep pionidal sinus on his tail bone and the medical team were concerned that his spine was not connected at the base to his sacrum. This proved not to be the case, thankfully.
He had 4 echo cardiograms over a period of 18 months and his heart is growing healthily and the holes are closing on their own so no surgery is required. His pulmonary stenosis may yet require a keyhole procedure though.
Within the first 6 weeks it became apparent that Jethro was going to have further difficulties. His geneticist at the time was showing concern but not saying much. He had a divergent squint in his left eye which has been assessed and reassessed every 6 months. His eyes would alternately cross and uncross and he never wanted to look at anyone’s face, not even ours. His father would lean in to kiss him when I was holding him and he would turn his face away. This did not make it easy to bond with him or to know him in the first year of his life. His eyes started to rectify themselves when he was approximately 14 months old and as they straightened he slowly started to make eye contact with us. He still has his eyes checked biannually as the opthamologist thinks he might prove to be far sighted. His eyes can still ‘stray’ a bit but more in either tiredness or around the time when he has seizures.
Jethro has had the best medical care available in New Zealand, possibly because he is ‘interesting’ medically and no one had come across any other child with the varied symptoms that he presented (only one other child has been diagnosed with MWS in NZ and that was 10 years ago and they are not registered with this website). This has meant that he has had every Head of Department manage his case, which has in many ways been reassuring for us.
Jethro was on an antibiotic (cefaclor) to prevent kidney infection for the first 7 months of his life at which time we became insistent that he be taken off this medication as his right kidney was working perfectly and was ‘signed off’ as healthy and functioning optimally.
He had huge difficulties when he started eating solid food. At 5 months old I realized that he was not getting enough sustenance from breast milk as he was wanting to feed every hour and a half for longer and longer periods of time. I was not particularly attached to breast feeding so was quite happy to move him onto formula and to start him gradually on solids. When he was about 9 months old he started gagging and vomiting regularly when he ate. I didn’t realize at the time that it was possibly caused from his posture as he was still rather ‘floppy’ and was not sitting unsupported. But in actual fact it was caused by a delayed swallow reflex meaning that a lot of his food ‘went down the wrong way’ and was causing him enormous discomfort. This vomiting continued for many months until we were assigned a wonderful speech and language therapist and a child development neuro specialist when he was 16 months old. We were provided with a high chair (that doubles as a pushchair) that has been modified to his specific measurements and from the moment he started sitting in it to eat, his vomiting issues almost miraculously disappeared. Prior to the funding for this chair being granted we had a couple of appointments with gastroenterology and Jethro had a videoflouroscopy which meant he had to be x-rayed while eating different types of food. This showed that there were no anatomical abnormalities thereby indicating that the swallow and vomiting problem was caused by ‘something neurological’. Being a child that absolutely loves food he would happily eat until he was sick and after this happened a few times I realized that I needed to monitor how much he could eat as his tummy was not messaging his brain that he was full. I am happy to say that all of the vomiting never put him off eating and he still loves food as much as ever (he has never been underweight!). He is a mother’s dream child who eats anything put in front of him, however this led to me discovering that he is allergic to albumin in egg white and he has a sensitivity to nuts. He can tolerate eggs in baked foods but we have had a couple of scary moments when he has eaten something particularly eggy and has had a violent reaction.
Jethro started sitting unsupported between 16-17 months old, at around the same time that he had his first seizure. His first seizure occurred while he was having a morning sleep so we had no idea how long it had been going on, we did not even realize that he was having a seizure! His arms were twitching rhythmically and his eyes were fixed to the left but because his eyes were closed we did not immediately see how they were fixed. Following that he had an MRI which showed an underdeveloped corpus collosum and less myelination of his grey matter than would be considered normal for his age. A 2nd seizure occurred almost exactly 3 months later, this time early in the morning as we were waking up, I gave him 5mls diazepam and called the ambulance. Once again I had no idea how long it had been going on. He then had an EEG and epilepsy was confirmed. We started Jethro on Epilim after research into the many different medications on offer and long discussions with his neurologist. He was put on a very low dosage and has to have blood tests every 3 months to check that his liver is not being affected by the medication.
Almost exactly 3 months later he had 3 little ‘turns’ one morning, kind of grizzly & unhappy, not feeling too well, losing his balance while sitting, coughing and frothing and blue lips. They only lasted 20-30 seconds and could so easily have been missed. We took him into hospital to be checked that day as I wasn’t even sure they were seizures, I thought he was having difficulty breathing. They confirmed that they were seizures and sent us home. Two days later he had a grand mal seizure at 1.30am. By the time we heard him it had been going on a long time, he was blue and convulsing violently. We gave him the prescribed 5mls Diazepam and after about 10 minutes it started to subside. We called the ambulance as I was concerned about loss of oxygen and we were once again taken into Starship children’s hospital. We were advised to gradually up his medication over a period of 2 weeks which we did.
Recently he has had a few more little ‘turns’, all short and almost insignificant, except that they are not because they are still happening. Again we have slightly upped his Epilim levels. At this point in time we are right at the 3 month mark again, so we’ll see.
He is prone to chest infections, especially in winter. We have had to medicate him 4 times in 2 years for to alleviate the more severe ones. I am hesitant to medicate him too readily as I like to see if his system can combat colds and flu’s on it’s own. He also has glue ear which was diagnosed in December 2008 after 3 audiology sessions. He is now waitlisted to have gromets fitted.
I sometimes give Jethro massages after his bath and he just loves it. I am a massage therapist (shiatsu) and have started my training in children’s yoga (including yoga for children with special needs) and I try to use whatever knowledge and techniques I have to see what he responds to and how.
He has had a terrible time teething, often causing vomiting. At present he is teething his 2 yr old bottom molars and they are taking months to show themselves.
Jethro is now 2 years old and desperate to get moving. He gets bored and frustrated more easily than before. Each time he has a seizure something changes developmentally for him. The first one led to him sitting unsupported, the 3rd one to him suddenly babbling and being much more vocal (saying Mama over and over again). He can get himself into crawl position and is rocking and trying to get his balance. His standing is getting better and better and he can balance with someone just standing right behind him and not supporting him by holding his hands (if he is watching a music DVD or is being entertained). He is getting a standing frame some time in the next few weeks so fingers crossed he will get himself moving in some way over the next few months.
Jethro is a beautiful, easy going, placid, friendly little boy who has a couple of friends and likes nothing better than to be included in everything. He loves music and to be danced with, he loves Lego (although he likes to pull down everything anyone builds), books, puzzles and Thomas the Tank Engine trains. He loves to play on the trampoline with his parents and his brother and also loves the beach and swimming. He goes to a home care style daycare 3 days a week while I work (which is my blessing), with a lovely family who adore him. He goes to playcenters and music groups and loves to go grocery shopping and sit in the trolley with his brother.
We got the MWS diagnosis 4 weeks ago and I think we are only now starting to absorb the enormity of what it means.
We feel lucky that we at last have a diagnosis, at least now we know what we are dealing with. We also feel privileged that when he chose us for parents that he knew we would be able to handle it. Now I feel that I have to prove to him that we can.
The way I cope with challenges in my life is to find a positive to focus on and despite the MWS diagnosis initially being a real shock, I have managed to find positive outcomes. It makes things simpler to have a name for what he has, especially when trying to help my children (or anyone who’s interested) understand why he is the way he is. It will also make applying for funding for things a lot easier and will help to determine his educational needs when the time comes.
We have spent a lot of time in hospital and encounter so many children who have terribly debilitating illnesses. When I look at some of the awful things that some children have to bear I count my blessings. I fear that if I allow myself to feel self pity then I will not be of any use to either of my children and my ability to cope will desert me.
The first year was very tough. I felt guilty and so worried and like I was drowning in a sea of medical appointments and jargon that I barely understood and I felt I had no idea what was going on or why. I had post natal depression and constantly felt bad that I was not a good mother. This did not happen with my first child.
It feels like things are getting easier but I am under no illusions about the challenges that lie ahead. We are going to learn sign language to help Jethro express himself as it must be awfully frustrating not being able to.
Sometimes it’s so hard, some friends and family don’t feel comfortable and don’t know how to be around him. The amount of time we spend at medical appointments and I spend on the phone making and confirming these appointments eats into our family time in a big way.
Our hopes and dreams and expectations are adjusting and will adapt but most important to us is that Jethro knows he is loved and has a happy and fun filled life and we will do everything in our power to give that to him.
Update – 31 July 2011
Just over 2 years have passed since Jethro was diagnosed and we have moved on and our lives have changed significantly. Being given a name for Jethro’s condition has helped us all in so many ways.
His older brother now has a name for why Jethro isn’t like other children and we now feel like Jethro belongs somewhere. Before Jethro was diagnosed I think we were more concerned with what was wrong with him and all the things he couldn’t do rather than focussing on what he could do and how we could help him. That has completely changed and we are more compassionate and understanding when things are tough for him and we feel immensely proud of his every achievement.
We definitely went through a period of mourning following Jethro’s diagnosis and then we suddenly realised that we have found acceptance and that has been an amazing breakthrough. Jethro’s epileptic seizures are now a lot less erratic and we are a lot calmer when dealing with them and we tend to know when he is at risk of having a seizure more than we used to. Having this knowledge makes it easier for us to cope.
We are extremely well supported by the Child Development service and have been given incredible equipment to use to help Jethro with his development and growth. We are very fortunate to live in a country where disabled children’s medical needs are paid for by the state in its entirety. But one needs to seek out what is available and from where and we have been fortunate to have great therapists who have steered us through all the paperwork and red tape.
Jethro is not yet walking but is very able, strong and agile on his hands and knees. He can pull himself to stand at furniture but does not yet have the balance to ‘cruise the furniture’. He has little feet that turn outwards and his ankles are overly flexible in that direction. With splints on his feet and orthotic shoes he is much more balanced when standing and loves to practice walking in his gait trainer. He does not talk or have any words but de does like to make a lot of noise and we are getting better and better at deciphering his communication (this is a work in progress and probably the biggest hurdle for him and us). He is not particularly responsive to signs (doing them himself) or to pictures even when we know he understands.
Currently Jethro is going to Riding for the Disabled and enjoys music therapy at The Raukatauri Music Therapy Centre and he loves both of these activities.
He recently had his hypospadias corrective surgery which went well and he continues to see an eye specialist and have his hearing tested and his grommets checked.
Jethro is a happy, sociable darling boy who is mostly easy going. His loves are –
Playing with a ball
Being around lots of children
Going to the beach
Music (listening and playing)
Jethro goes to a mainstream kindergarten which is very stimulating and good for him. He will start school when he turns 5 in February and we are currently looking at the options we have open to us in terms of his education. I know from reading other parents emails quite what a minefield getting a good education can be for our kids.
Having a group of parents to talk to about the experiences they have with their MWS children is one of the very best things to have come from Jethro’s diagnosis and this group continues to help us and enlighten us and support us when we are feeling despairing and overwhelmed. These times are getting more few and far between as we get better at knowing and caring for our beautiful, unique completely amazing little boy.
Nick and Shelley