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Paul

 Our son Paul was born on the 5th September 1957 .

It was not until the 10th April 2006, some 48 worrying and sometimes terrifying years later, that we eventually discovered exactly what his condition is and what caused it!.

As a result when the next doctor asks us what his condition is,  we will be able to inform him.  

We have worried continually throughout our married life because we have always had the fear that we might have a second son or daughter with the same problems. In fact all of our worrying and stringent preventative measures did not prevent us from having a daughter, Gemma, who thank God, is in fact very normal! As is our other son Conrad (adopted)! In the course of time Gemma eventually married, since when, she and us, have worried that she might inherit our problem and if she had children, they might be born with the same defects as Paul. She inevitably became pregnant, which prompted nine months of extreme fear and apprehension all round. The resulting twins, thankfully, and much to our surprise, turned out to be wonderfully normal in every way.

I note that these experiences are most definitely quicker, much easier to write about, and far less traumatic they were to live through!  

As a direct result of the tireless efforts of Dr. Denise Williams, Consultant Clinical Geneticist, Birmingham Women’s Hospital, and no doubt many others to whom we are indebted, we now know the truth of our son’s condition. Fortunately it appears that my wife and myself need never have worried, we might have in fact have lead a much more “normal and happy life” and our daughter also need never have worried either, as the condition is apparently not hereditary! What an enormous relief! This single piece of information, had we been aware of it half a century ago, would in fact, have transformed our lives!  

As a result we discovered that there is in existence a Mowat Wilson Syndrome Support Group formed with great foresight by Nigel Lock, to whom I feel that we all have reason to be very grateful, for it is so reassuring to have someone to turn to for help and advice and do we need it! There might also be strength in numbers, even if few in number? We made contact and as a result I was requested to tell our story.  

Paul at 48 years of age is apparently the “oldest known member” of the group. Most other member parents appear to have quite young children, the oldest in Britain being 17 years old? I understand however, that there is another aged 27 years?  There must also be many others in the world, as yet unknown to us? Obviously parents of young Mowat Wilson Syndrome children are very concerned about their future lives and how their children might develop.

Paul is the oldest known MW and is also most likely to be the most “untypical” in some respects, due to his tragic and unnecessary recent experiences? He does certainly have most, but certainly not all, of the MW traits. 

His response to events and sickness is extraordinary, indeed un-natural! Over the last 48years he has suffered from innumerable illnesses and indeterminate problems, which the medical world, “perhaps understandably”, has been unable to recognise or resolve. We have simply very often had to live with whatever he was suffering from, until it disappeared of its own accord, or developed into, perhaps a crisis situation. Most worrying!  

Paul’s birth.

48 years ago, my wife Jackie was taken into our local Maternity Home in order that her condition could be monitored prior to the birth of Paul. This was because we had lost our first child, some years earlier, a girl, at birth, who was three weeks overdue. (Just after Paul was born, we were informed that our first child had in all probability, suffered the same troubles as Paul).  

However Jackie was dutifully observed and quite unbelievably allowed, “yet again”, to go three weeks overdue, at which point things started to go seriously wrong! She displayed a “green show”! Apparently indicating that the baby was in distress? As a result an Emergency Cesarean Operation was organised, but as the Maternity Home was not a Hospital, it actually took “six eternally long and unnecessary hours” for an operating team to be assembled, in order to perform the “emergency” operation.

Jackie spent all of that time waiting and watching the terrifying sterilization of the surgical instruments etc. as it took place before her!  

Paul’s heart had been showing signs of distress, but he was eventually delivered and it was instantly quite obvious to those in charge, that things were indeed very wrong! He displayed none of the reactions that would be expected from a “normal baby”. So that trouble was identified before and immediately after birth. Although no one had the slightest idea of what the cause was!

Personally I have no doubt that six hour delay involved in waiting for the Emergency Cesarean Delivery, was probably a major contributing factor to Paul’s appalling brain condition at birth and for the rest of his life. I am inclined to believe that he possibly suffered from some degree of oxygen starvation and that his Brain Functions need not have been quite so poor? Quite unbelievably one of the best Maternity Hospitals in the country was only a five minute ambulance drive away! In which incidentally, many years later, I was destined to spend the most pleasant working years of my life, on its Neonatal Unit!  

During the twenty-five days before discharge which followed, it was noted that Paul had heart problems.

He could not suck from a teat with a conventional hole and required a teat with several holes, so many that suction was not necessary. In fact when the bottle was offered it sprayed his face like a garden watering can! It seems that he had a Cleft Palate, but no Hair Lip, which we were told normally, accompanies the condition. His feeding problems have continued throughout his entire life. We quite simply have to “spoon or finger feed him” at one end and mop it up at the other! (This latter situation is somewhat embarrassing, when dealing with a man in excess of six feet tall!).  

Physically his body at birth and for some considerable time afterwards, was absolutely “floppy”, he had no control over any part of it! Neither did he appear to have the desire to move voluntarily and in any case simply could not as he had not got the strength. Neither did he respond to any form of stimulation. Basically and most worryingly, he just lay very quietly and immobile wherever he was placed.  

He had an undecended left testicle and Hypospadias.  

The initial worries were concerned with his heart condition and it was also doubted whether he had any “sight” or hearing! He did not cry and never has, other than from an emotional standpoint!

When we were eventually allowed to bring Paul home, I cannot possibly begin to describe my feelings of utter disbelief, isolation, desolation and apprehension at the thought that we had been left totally alone to cope with the apparent fact that we had brought into our world, a seemingly “one off human being”, (about whom the medical world were totally at a loss), who was unable to do quite literally anything for himself. This appeared to be a situation which no medic could understand, let alone us his parents!
We quite simply struggled totally unguided, on a day by day basis, very much in the dark, and alone in our world, to cope with the innumerable problems that came with our inoffensive and very quiet son! And it has continued in much the same vein to date almost half a century later!    

Half a century ago our GP had no idea of what the problem was, so he referred Paul to a Pediatrician, who also had absolutely no idea, and I feel was just not interested anyway, in my son. He advised us to take Paul home, “put him away”, and “get on with our lives”! How very understanding caring and helpful? He also considered Paul to be a candidate for a lifetime in a spinal carriage! (I must say however, that many times during the last forty-eight years, I have had cause to remember and ponder his “extremely disagreeable and unfeeling advice”!). What turned out to be our final visit to him soon afterwards, was a complete disaster. The appointment was for 2pm , but after waiting more than two and a half hours without being seen, we left in disgust and have never seen or heard from the specialist since! He very effectively, got rid of us in a stroke!, which I believe was his aim probably due to his complete lack of experience with human beings such as our beloved son!  

Paul’s early progress.  

By the time Paul was about eighteen months old, I had indeed become very seriously worried about our ability (or rather inability) to interpret what his requirements were at any particular stage, and to know what to do in caring for his totally immobile and passive physical and mental state! Furthermore I was most concerned as to how we were going to cope with him when he got older and larger, a worry for any parent of an immobile child, because by this time we had more or less accepted the fact that he would be most unlikely to ever be able to walk!  

Our GP, Dr. Crombie, one of those very rare, “wonderful and caring old time doctors and a perfect gentleman”, informed me that he felt that I should perhaps not worry too much about Paul’s future as he thought it quite possible that his life span would probably not extend past his fourth year! (He is forty-eight now and we cope onwards, still in comparative, or rather complete ignorance, but thankfully with the guidance of our GP and the wonderful support of Paul’s sister and adopted brother, the only experienced experts, up to now, known to us!).  

Fits

Paul had his first fit when he was about eighteen months old, it was very frightening! Once started, they soon became very regular, very nasty and predictable occurrences. After a while we recognised that there was a very distinct pattern to the fits. They always occurred between 3am and 7am whilst sleeping and at no other time! He was put on Phenol-barbitone which we were unable to get him off for twenty-eight years! I believe that this had its disastrous aspects also!  

One night, after suffering many years of extremely frightening fits, we were woken by a massive and very loud reverberating tummy rumble. My wife thought that it was me; I thought that it was her! But no, quite unbelievably it was Paul. About half an hour later he was having a massive fit!

About three nights later, it happened again, a loud tummy rumble followed half an hour later by a very nasty fit! I felt that his stomach must have been totally empty, yet he had eaten normally prior to going to bed!  

The following day I discussed my feelings with Jackie and together we decided that after we had given him his normal evening meal we would also give him something substantial, “immediately before going to bed”, in order to observe the results, if any. We gave him quite a large “breakfast type of meal”, consisting of easily digestible cornflakes, milk and loads of sugar! He has never had a fit since! And importantly we were eventually able to convince our doctors to get Paul off the “stupor producing” and I am inclined to believe retarding effects of phenol-barbitone!

At that time was I totally lacking in medical knowledge (and nothing much has changed since), but I am of the impression that Paul was suffering from sugar deficiency, or something similar?

Paul’s Peculiarities:-

Speech

Paul does not speak although it has not always been that way. There was a time when he could in fact speak with a limited vocabulary. But he suffered some type of illness which the specialists, as usual, “were not quite sure”, but suspected may have been a Brain Hemorrhage? There was a sudden deterioration in the speech that he had and which eventually disappeared along with some of his other very limited attributes too. He does still make happy or miserable sounds, as and when required, depending upon his mood, which fortunately for us is invariably happy.  

He is a very emotional human being in matters concerning cars, music and in particular, small children, in whose company he is totally and continually happy, literally at his very best!  

He has an unbelievable capacity to absorb pain, without a murmur! This is actually a major problem, and creates many difficulties for us (and him). For example, even when he suffered a broken hip, he did not moan or cry, he simply suffered it in silence, lay on the ground and refused to move, or be moved! But he certainly “did pull a face”! This went on for four days due to the fact that the hospital failed to discover the fracture at its first attempt!  But he most certainly does feel pain, it shows on his face and in his reluctance to move when hurt.  

Even if we are aware from his facial expressions, that he is suffering pain somewhere between his head and his feet, we are most unlikely to be able to discover the source. Other than by luck or more likely when matters have reached a crisis point, as with the broken hip. It could be anything from toothache to stomach ache, or cancer? It becomes a question of sitting and observing his movements, or lack of, and making “educated” guesses, which are never satisfactory or quite good enough!  

He cannot feed himself, in fact does nothing for himself and asks for nothing. When food or drink is offered to him his initial reaction is invariably seen to be a refusal, by turning his head away! However the second offer usually results in him devouring whatever he had, seconds before, refused point blank to accept!  

(This presents major problems when he is in the care of medically qualified others, because his refusal is seen to be very positive and if he was a “normal intelligent human being” hospital staff, perhaps quite understandably, would and do let him have his way! This in spite of being pre-warned via a notice over his bed and everyone has been given all relative facts concerning his care! This is very worrying and leads me to my personal dreadful conclusions! I believe that it is essential that parents of children such as mine, need to spend the whole day in hospital at the bedside, in order to ensure that our children get the attention which they require, for the continuation of health and life. It must be fully understood that there are far too few nurses, who are invariably overworked, have far too many patients, many of whom are elderly and require enormous nursing attention in connection with normal daily body functions etc. The fact is that they have only one pair of hands, usually perhaps four nurses to some thirty six patients! Not easy!)

Problems associated with Paul’s condition

We most definitely do not choose, or like to “eat out” with Paul, having had several quite nasty experiences with so called “normal human beings”. Restaurants have actually refused to serve us. A holiday caravan site owner ejected us as my son was apparently spoiling other holiday maker’s vacation! The fact is that we still, at forty-eight years of age, have to spoon feed him! It is far too an embarrassing experience for us to suffer that we do not do it!  

With regard to toileting, we have had some degree of success, in that providing we are at home, we could possibly say that he is toilet trained. He even indicates his requirements by walking towards the toilet. But away from home it is quite a different matter. Furthermore Disabled Toilets are never available (due to “Murphy’s Law”), when we actually require one!  

Paul loves music (or noise) which ever is the loudest and has an unbelievable and magnificent memory!

For example: in 1975 Paul made his First Holy Communion at the Vatican , Rome . A quarter of a century later, if he hears music which was played at the event, he will immediately cry!  

The overall and incorrect impression that he creates, is that he sadly has little brain activity. Furthermore it certainly took us a long time to realise, that in many instances, he is extremely aware and in fact quite knowledgeable on some subjects, “particularly his favorites”! The result is that he is an “undoubted expert” at giving out very false information, which is actually most dangerous, particularly to him!  

Paul’s Physical Development.

For some two years or more after birth we had to provide full body support for him even whilst sitting; otherwise he slumped into a heap, as if he had no bones or muscles! He actually spent most of the day lying on his back apparently studying our ceiling intently. Eventually I could stand it no longer! What on earth, I worried, could he ever be expected to learn from our delightfully bland and blank ceiling? Something had to be done. I decided that if he was to spend the rest of his life staring blankly into space he would do it in a vertical position, so that he would at least observe the same world as a normal human being!
I had a frame made mounted on spherical castors and harness into which he could be placed. The harness supported his weight under his crotch. The frame included a top ring which we had to persevere to get him to hold it, in order to maintain a vertical position. I remember that he was terrified when placed in it for the first time, he was rigid (for the first time in his life) with fear!  
At about that time, although he could not stand, let alone walk, we needed to get him a pair of shoes. Our shoe shop manager refusing the chance of making a profit would not sell us any, as he believed that medical treatment was the requirement! Our Pediatrician informed us that there was no problem with his feet, it was his brain where the problem lay and promptly showed us the door.

We returned to the shoe shop and explained that we had attempted to get medical help but to no avail. One again refusing the opportunity to make a sale, the manager suggested that we made contact with Salts, an excellent local firm which caters for the disabled with walking problems etc. A very old gentleman studied Paul and with the benefit of a lifetime’s experience equipped him with calipers, and furthermore informed us quite positively that Paul would walk! I must admit to being highly skeptical at the time, for I had already accepted the inevitable fact that he just would not ever do so! But the ancient gentleman was so correct and Paul eventually did, when he was four! The combination of his walking frame and the leg calipers had strengthened him to such an extent that we were able to hold his hands and walk him in a fairly natural manner.

So much for our Pediatrician!

What a difference half a century makes?

Education.

Paul was assessed quite early and instantly declared to be uneducable! In spite of the fact that we were actually expecting it, we were shattered by the experience of being “officially informed”!. At about seven years of age he was sent to a Day Care Centre, which we believe he quite enjoyed within his very limited capability. He stayed there until he was sixteen. (Currently it appears to be the age at which quite a lot of the help which had previously been available handicapped children, seems to evaporate!).  
However at precisely that time, the Government instituted Day Training Centre for the over sixteen’s, under Social Services, for the Mentally Handicapped and we were lucky enough to be given a place for Paul.  

He would, I believe still be attending there, had he not at the age of forty-two, had the misfortune to have to enter hospital for what we were informed was a simple Day Patient Operation. Twenty-four days later he was discharged, without explanation, having lost just over two stones in weight. He stands over six feet and at discharge weighed a horrifying seven stones! A virtual living skeleton! This operation was destined to be quite simply the first of five related operations which Paul had to endure. Four of which took place within six months, the fifth, a broken hip operation, some time later.

This series of events turned out to have disastrous and seemingly permanent consequences for his and our lives afterwards! If our life with Paul since birth had not been difficult enough, this has had a catastrophic effect upon all of our lives! It returned us in effect to the problems which we had encountered during the early years of his life, of getting him fit and able enough to walk again. We of course are not as young as we were then! Six years later we at last feel that we might eventually get him back to the state that he was in prior to these events taking place? Currently and seemingly permanently, he is getting two to one care everywhere, Jackie and I at home and qualified medically trained care, when at day and respite centre's.  

Following this broken hip operation he was taken out of our care by his Orthopedic Surgeon, for two reasons: his safety, as he could not stand unsupported and most definitely could not walk, plus the fact that I had just commenced a thirty week course of chemotherapy cancer treatment. Paul was therefore placed, under “two to one” trained medical care, in a “NHS Respite Home” where he remained for more than four years. We did of course have him home very regularly for breaks and visited him every few days. All undoubtedly at very great cost!  

The “Social Services Day Training Centre” which had been lost some six years earlier due to its inability to safely cope with his condition, was eventually replaced last year by an excellent “NHS Day Centre” placement called Collingwood, which is able to care for Paul’s condition in the care of highly proficient “two to one” medically trained supervision. It has proved to be a massive step forward for Paul and us his parents. The members of staff are absolutely dedicated and provide quite wonderful care, plus quite unbelievable and varying stimulation, which has made his “recent sad mental and physical existence” comparatively enjoyable again.

Paul has also, for many years now, been fortunate enough, to regularly attend Kingswood Respite Centre under, again, the care of wonderfully dedicated supervision of the highest order. There he has the opportunity to meet other members of the human race, as opposed to just old mom and dad, who I am sure that he has become very bored with after almost fifty years. He actually prefers the company of young people, particularly children and is then at his very best and happiest.

Note. I believe that it is most important to realise and appreciate the dedicated people who staff these center's as they are of the very highest calibre, nothing is too much trouble for them. There are however far too few such center's.  

These two invaluable services which Paul receives have not been easily obtained and I simply cannot praise them too highly! Or our dedicated Community Nurse who made it possible! All of us parents who are fortunate enough to be receiving such services for our handicapped children, indeed have cause to be eternally grateful, as in my opinion, they are “modern day saints”! Personally I am not quite convinced that “the authorities see them in quite the same light?  

It does seem to be a fact that there will inevitably be increasingly longer waiting lists, for such services, so it is essential to apply as soon as possible. Do not wait until the difficult situation arrives. The problem does appear to be that there are insufficient services available to cover the needs of the handicapped when they reach adulthood that is about sixteen years of age onwards. Although the authorities have full knowledge of the existence of our children, they do not appear to me, to be making correct provision for their future requirements. The sad fact is that we have to fight most determinedly to get, very often the slightest help for our youngsters!  

We are now approaching our half century of life caring for our six foot two 48 year old “child” and our experiences have proved that matters do not get easier as time flies past. Quite the contrary! However I do feel that we have “got used to, expect and accept the pressure”.  

Most Important! I am very conscious of the fact that most of the members of the Mowat Wilson Syndrome Support Group appear to have quite young children and are quite obviously most concerned about their personal future problems. I am also aware that parents might see Paul as a window into their future lives? (Some parents already have). Therefore in order to avoid the possibility of causing unnecessary distress, I feel that it is most important to point out that Paul’s current condition is most certainly not all as a direct result of his Mowat Wilson Syndrome.  

If my wife and I have had a “somewhat difficult life since 1957”, in coping with Paul, then what we have been forced to endure since 1999 simply adds to our difficulties in a monumental distressing and most painful manner. Your children are fortunately, unlikely to develop into such a poor state as Paul’s current condition.

Looking back on the last 48 years I think that it would be true to say that whilst Jackie and I have by no means had an easy life, we have indeed been extremely fortunate to have been blessed with the most inoffensive, complacent, quiet, undemanding human being that I have ever encountered. We have gained great rewards in caring for him. So too has his younger brother and sister, who have, throughout their entire lives, loved Paul and fully supported Jackie and me in putting him at the hub of our family. We are of course totally impressed by their unending love and support of us and above all for Paul!

 
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