AOIFE MURRAY, RUBINSTEIN-TAYBI SYNDROME

Susan Murray writes about her daughter Aoife and her rare syndrome and the family experience of Tony and Susan and their daughter Aoife

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1965

As I write this we have just celebrated our daughter’s fifteenth birthday. She had a traditional celebration with plenty of cards and presents, a cake with candles and a favoured outing, this year a family trip to the ‘panto’. All in all a routine event of family life – except that for us each birthday has the additional poignancy of reminders of time passing as her chronological age increases and the gap between her and her peer group widens.

But back to the beginning in January ’84. Like most other couples we eagerly awaited the birth of our first child, buying baby items and getting lots of advice from friends and family. Although I was very anxious about the small size of the ‘bump’ I had been reassured at my ante-natal check ups that all was fine. In hindsight, it seems strange that I didn’t have a scan but as it was my first baby, I didn’t have anything to compare it to. Aoife duly arrived on the 17th after a straightforward labour. The midwives remarked on her low birthweight but did not appear unduly concerned. I remember being extremely concerned about a red mark on her forehead and on her neck, but I was reassured that such marks were a common occurrence in newborns. Aoife also appeared reluctant to open her eyes except in very dim light and had a poor sucking reflex. All in all there were a number of indications that all was not well, but my anxieties were dismissed as being those of an over-anxious first-time mother.

We brought her home six days after she was born and began to adjust to life with a newborn baby. Friends and family remarked on how ‘good’ she was because she rarely cried – they saw this as a bonus. Although I tried to see it like that also deep down I was becoming more and more anxious. I brought her for her six-week check up, with unbelievable apprehension. On the one hand I didn’t want any bad news, but I also needed confirmation that I wasn’t going mad and imagining all the problems. Incredibly the paediatrician noticed nothing unusual, dismissed all my questions, and sent me home.

After three and a half months, my GP finally noticed a problem with Aoife’s eyes and referred her to the eye clinic in Temple St. I took my place in the queue and as usual she lay passively in my arms. I experienced none of the difficulties of placating an irritable baby that those around me were having. Perversely, I just wanted her to cry lustily like all the other infants there.

Eventually we were seen and I was told that she appeared to have a serious eye condition and I would have to return the following Monday in order to have the diagnosis confirmed. That Friday remains etched in my mind – I felt that all my worst fears were going to come true. The second specialist we saw confirmed a diagnosis of congenital glaucoma and she had surgery on both eyes in May and June. While she was an inpatient in the hospital other tests were carried out which were all inconclusive and, despite persistent questioning by both Tony and me, we felt we were getting nowhere. They acknowledged her poor muscle tone and delayed development but seemed to have no answers. In hindsight, I understand that it must be difficult to identify a child with a rare syndrome, but it is also very traumatic for parents to be faced with so much uncertainty.

The summer of 1984 was a complete nightmare for us. It was becoming more and more obvious that something was seriously wrong with Aoife, something more than the sight problem, which had been confirmed at this stage. We were left in limbo. In October we took her to see a paediatrician in another hospital, where in a matter of a couple of hours we were told bluntly that our child had a mental handicap. So ended the months of terrible uncertainty, but it also killed the glimmer of hope we had had that somehow or other she would ‘catch up’. She was again admitted to hospital, where she was identified as having Rubinstein-Taybi Syndrome (RTS), colloquially known as ‘broad-thumb’ syndrome because of the presence of broad flattened thumbs.

Needless to remark we had never heard of this syndrome. Furthermore, we quickly discovered that most medical personnel knew very little either, and they didn’t appear able to find out anything for us. Eventually we did get information from various outside sources and began to realise how much of the available data applied to Aoife. We discovered that conditions such as congenital glaucoma can occur with RTS, so it seemed incredible that none of the doctors had appeared to investigate this possibility earlier. Children with RTS have certain characteristic features, generally have repeated upper respiratory infectious and suffer from chronic constipation. Everything fitted in – so now at least we had an explanation.

As any parent of a special child knows, the diagnosis of mental handicap is absolutely devastating. In our case we had lived on a terrible roller-coaster of emotions and apprehension for ten months so, although the diagnosis ended that to some extent, we were both so emotionally drained when we got the diagnosis that it had a devastating effect on both of us. Our hopes and dreams were shattered. We both felt that we should have been more proactive in seeking a diagnosis. We were extremely angry at the way we had been treated. On top of all this, we were left with the reality of coping with a child who had a syndrome that nobody appeared to know anything about.

Because Aoife didn’t slot into any of the main groups of disability we were still left on our own. We requested and eventually got a referral to Central Remedial Clinic where she got very good and beneficial physiotherapy at the time. From there she was referred to St. Michael’s House.

Slowly and gradually we put that terrible year behind us and adjusted to our new reality. Aoife was a most endearing baby and this helped in coming to terms with the situation – when she smiled at you nothing else seemed to matter. Very gradually she began to make progress and each new milestone being greeted with great delight. It certainly taught me to take nothing for granted. She had a lot of upper-respiratory infections, which made feeding very difficult, as she tended to bring back her food when she coughed.

When she was three we sent her to a Montessori school which she loved. The teacher and the other children treated her with wonderful kindness. Again she made slow but steady progress and her speech gradually improved. She has always been very small for her age and this helped her when she was younger as people generally did not realise her actual age.

She stayed in the Montessori school for four years and we then faced the dilemma of finding a suitable school for her. We were advised to place her in a mainstream school. Having visited several schools locally. She was eventually accepted in a special class in a school which was some distance from our home. There too she was very happy and we were fortunate that the school actually has three special classes which provided a sense of progression for the children. Although the school was very large, Aoife was treated very well and the teachers were all very supportive, allowing her to work at her own pace. However, the school received little or no backup for Aoife or the other children in the special classes.

Last June marked another milestone in Aoife’s life as, with great sadness, she finished in St. Catherine’s. She was very upset at the time as she had become so used to being there and had made many friends. However, it was time to move on, and in September she started in St. Michael’s House Special National School in Ballymun. It has been a very positive move for her. She has settled in well, making new friends and enjoying all the activities. Sending Aoife to a special school was definitely the right choice for her as her needs are being very well met and she can progress at her own pace.

So fifteen years on, what has life with Aoife been like? It’s been very rewarding and equally frustrating. We have delighted in her progress and achievements and cried with sadness at what might have been. She is a very loving, caring person who radiates love and happiness, but she can also be very unpredictable and becomes agitated very easily. She loves routine and would like everything to always stay the same, so times like Christmas and summer holidays can be difficult for her.

Aoife is small in stature so we try to keep an eye on her diet so that she won’t gain too much weight. This can be difficult – she loves food and never seems to be full! She is quite sociable but also likes to have her own space where she can listen to music or watch her favourite videos in peace. In many ways she is a typical teenager, giggling about the boys in her class, listening to Boyzone and Spice Girls and slamming the doors at home in a very dramatic fashion. However, at another level she still needs a great deal of care and is still very dependent on us. In Time, I hope she will acquire skills which will help her to become more independent.

Tony and I are both very concerned about her future and what will happen to her should anything happen to us. It would be wonderful to think that the services were in place to meet her needs in the future, but sadly this is not the case at the present time. We are extremely lucky in that we now have a ‘Breakaway family’ who take Aoife for overnight or weekend breaks. This family provides a ‘home from home’ for her and she really looks forward to her visits. These mini-breaks allow us to give more time to Aoife’s two brothers Conor and Hugh, and help us to ‘recharge the batteries’. Knowing that she is so well cared-for is a great help.

All in all, Aoife has brought a great deal of joy into our lives and, although the sadness is always there, time is a great healer and her appreciation of the simple things of life has helped us all to understand what really matters in life.

WHAT IS RUBINSTEIN-TAYBI SYNDROME?

Rubinstein-Taybi Syndrome (RTS) refers to a specific pattern of physical features and developmental disabilities which occur together in a consistent fashion. The condition was first described in 1963 by Dr jack Rubinstein and Dr Hooshang Taybi who recognised the pattern in seven unrelated children. (In 1957 Michail et al reported a single case and applied the title ‘Borad Thumg-Hallux Syndrome (BTHS) to the condition.) The incidence of the condition is very rare, with (in 1993) only 600 cases reported worldwide. It has been estimated, however, that with improved diagnostic techniques, the incidence may be found to be as high as 1:300,000 births. The condition occurs with equal frequency in males and females.

Individuals with RTS have short stature, developmental delay, similar facial features and broad thumbs and halluxes (first toes). In addition to characteristic broad thumbs, other distinctive facial features, which are significant only as clues toward the diagnosis of RTS, include short stature, small head size, thick scalp hair which may extend onto the forehead, heavy or highly-arched eyebrows, down-slanting eyes, prominent nose, small mouth and a high-arched palate. Males with the condition usually have undescended testicles. Although some chromosomal abnormalities have been demonstrated in recent research studies, the condition is not generally considered to be hereditary, and ‘recurrence risk’ for a couple having a second child with the syndrome is thought to be only about 0-1% (1:1000). Because of the variation in severity of symptoms displayed, the average age at diagnosis is approximately fifteen months; mildly-affected individuals may not be identified until adolescence.

Medical problems often associated with RTS include feeding difficulties; respiratory and ear infections; sometimes diarrhea but usually constipation; ocular problems including glaucoma, strabismus (non-parallel vision due to a muscular defect). Cardiac or vertebral anomalies, kidney and orthopedic problems are also frequently found in individuals with RTS. Despite the wide range of potential health complications, the life expectancy of individuals with RTS is normal.

Developmental delays and learning disability are associated with RTS; the level of ability varies considerably and each child must be dealt with on an individual basis. At the time of diagnosis, and on a continuous basis, counselling is essential to provide the family with a full explanation of the condition and advice on dealing with the symptoms which may be experienced by the individual child. Infant stimulation and early intervention are highly recommended for children with RT, as are early speech therapy and physiotherapy.

The above summary-description of RTS was compiled from information provided on the Internet by the [US] Rubinstein-Taybi Parent Group, and from <em>Rubinstein-Taybi Syndrome: a book for families</em> by C.A. Stevens and J. C. Carey (1991) (Available from Dr. Cathy A. Stevens,TC Thompson Children’s Hospital, Blackford Street, Chattanooga, TN 37405, USA, price: $3.00

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