Rose's story
18 January 2003 to present, by Esme Willcocks
Birth
It was evident from birth that things were not right with Rose.
She was born extremely floppy and was admitted to the Special Care Baby Unit briefly for making a grunting noise. This noisy breathing continued and Rose experienced difficulties feeding. She found it extremely difficult to latch on to the breast and consequently her weight started to plummet.
At three and a half weeks old she was rapidly referred to a paediatrician who diagnosed a floppy larynx (Laryngomalacia) and a floppy trachea (Tracheomalacia). He also mentioned that she had dysmorphic features which at the time we struggled to comprehend as she the most beautiful, peaceful little baby that you could ever meet. He suggested further investigations including testing for chromosome abnormalities. She was also at this stage referred to an ear, nose and throat specialist, for an assessment of her upper airway as Rose was experiencing regular blue spells.
This was the start of what would become regular operations on Rose's ears, nose and throat. Her first operation at four months confirmed the paediatricians diagnosis of a floppy larynx & trachea.
Chromosome diagnosis
Soon after the operation, we received the results of the chromosome tests. Rose was diagnosed with an unbalanced translocation between chromosomes 4 & 10. It was becoming more and more apparent at this stage that Rose was not reaching her milestones and that she had a developmental delay. She was also suffering badly with persistent ear infections and a diagnosis of glue ear was made.
At five and a half months, Rose was referred to the Child Development Centre in Stevenage (where we used to live) for Physiotherapy, Occupational Therapy & Speech and Language Therapy.
At six months, it was arranged for us to visit the Kennedy-Galton Centre Genetic Clinic in Harrow. We met a Consultant Clinical Geneticist, who discussed with us in great details Rose's chromosome imbalance. She also confirmed that "there were no reports of patients in the literature with exactly the same chromosome pattern and that Rose's floppiness and developmental delay are the result of the chromosome abnormality. It is very likely that she will experience learning difficulties".
We were referred to 'Unique' (www.rarechromo.org) - a rare chromosome disorder support group - who also confirmed that they searched both Unique's members' database and the Oxford Human Cytogenetics Database and have not found anyone else with Rose's unbalanced translocation, thus making her unique. For more details see the Rose's condition page.
It was becoming more and more apparent that Rose's developmental delay and learning difficulties were growing with her age. She did not sit up unaided until she was 10 months, she 'commando' crawled at 15 months (never learnt to crawl on her hands and knees) and started walking just before her 2nd birthday. She struggled to eat solid food, choking regularly and persistently picked up ear & chest infections which, on each occasion, took her a long time to fight and recover from.
Rose continued with her weekly therapy at the CDC in Stevenage. Upon moving to Bishop's Stortford in February 2004, Physiotherapy, Occupational Therapy and Speech and Language Therapy were transferred to the local area where it still continues to this day.
It was tough to come to terms with all what was going on in Rose's life. She seemed such a perfect baby. She was obviously slow at developing, but she slept beautifully and was so peaceful. In-fact she didn't cry for the first eight months of her life. At the time this should have been ringing major alarm bells but of course, being first time parents, we just thought that we were extremely lucky.
Moving to Stortford
We moved to Bishop's Stortford in February 2004 and threw ourselves into various support groups for Dave and I and enrolled Rose into special needs clubs & centres. We have met some amazing families with similar issues to us and the support we gain from one another is invaluable. We have made what we truly believe to be some fantastic life long friends.
Rose struggled with solid feeding at first, but now she eats very well. She still has to be constantly supervised when feeding as she is still prone to choking.
She is still prone to persistent ear & sinus infections. To date she has had three grommet insertions, her tonsils & adenoids out and a nasal wash out! The only other major health issue she's had was when she caught a nasty e-coli infection two days after her second birthday. This has resulted in permanent damage to her right kidney. The damage is mild, thank goodness, but it will have to be monitored for the rest of her life. The e-coli infection was nasty. She had just learnt to walk a few days before her birthday and once the infection took hold she couldn't even stand up for a few days. It took four months for her little body to fight the infection and recover.
From the onset of this illness to present, Rose's sleep pattern has been drastically disturbed. She's gone from a wonderful sleeper to a child who wakes frequently in the night and then is up ready to start the day anywhere from 4am every morning. Needless to say it's hard work!
This may however be due to the recent diagnosis of autism. It was becoming evident at around two and a half that Rose's symptoms were not just of a child with developmental delay and learning difficulties. It's extremely difficult to engage with Rose and consequently she spends most of her play time on her own. Even Dave and I struggle to get Rose to play. She is very much on her own agenda. All of which we now know to be associated with Autism. Her little sister, Ruby, craves her attention but Rose never gives it. It's heartbreaking to watch.
Rose's interests
Rose does not understand the concept of sharing and taking turns. She has a very poor concentration level, often flitting from one activity to the other without finishing or completing any of them. Rose's greatest passion is to watch the television. She is limited to watching it and the resulting tantrums are very stressful when it is switched off, they can sometimes last an hour or more. This is obviously preventing Rose from doing any other activities and learning whilst she is at home. The only distraction is to go out of the house and not be near the television at all. As a family, we spend a lot of time at farms, soft play centres, theme parks (the faster the ride the better), the park, horseriding and swimming. All of these she adores and will happily spend hours doing.
Rose does walk, but she is still unbalanced. She has no concept of where the pavement ends and the road starts thus persistently trips on kerbs etc. The slightest dip/slope in the pavement will cause her to stumble and fall. Rose is very easily distracted and if not constantly supervised will put herself in extreme danger. She hates to be confined in her buggy, yet she finds it very difficult to walk very far. This often leads to very stressful situations dealing with the resulting tantrums.
We are experiencing more and more tantrums at home. We believe they are out of sheer frustration because Rose cannot communicate even her most basic needs. Rose will not participate in any activity that she doesn't want to do and her attention span on those that she does is very limited.
After the e-coli infection, although she was portraying autistic traits, things were starting to settle down a little. We were still obviously attending all of the therapy sessions, clubs and groups and besides the lack of sleep, things were ticking over. This was until Ruby was born in February 2006.
Ruby was seven weeks old when Rose broke her left leg. She was in plaster from toe to thigh for six weeks. Two weeks into being in plaster, she caught chicken pox. The poor thing, we couldn't even put her in the bath to ease the itching. It must have been agony for her. Of course Ruby then caught chicken pox but compared to Rose, she only had a very mild case of it – nine spots in total. That was a tough time.
Ruby was a screamer and a dreadful sleeper at night. She slept great during the day, but at night I could be pacing the floor with her for two or more hours at a time. In-between pacing I would be dealing with Rose. Her poor sleeping pattern was even more disturbed by her plaster cast and itching. Of course, we are over that dreadful period now and we can look back and laugh, but believe me, at the time it felt like it was going to go on forever.
The only thing that hasn't improved is Rose's sleep. What with the e-coli infection disturbing her and then her leg in plaster cast, she's got herself into a dreadful sleeping pattern which we can't seem to break. It's exhausting.
Pre-school
In-between all of this, Rose joined a mainstream pre-school and loved it from the start. She settled in from the moment she started which was mainly down to the staff and the fantastic one-to-one she had. Because she got on so well, we decided to enrol Rose into a mainstream nursery which she started in September 2006. Once again, she settled in beautifully. The very first entry from her learning support assistant states: "it has been a positive morning, Rose has done very well". This continued throughout the first week. We were delighted.
After only one week at nursery, we took Rose to Herefordshire where we spent four weeks at Megan Baker House (www.meganbakerhouse.org.uk/). Megan Baker House offers Conductive Education which is a holistic, movement based educational approach for children and adults who have neurological motor difficulties. It was fantastic. Rose responded so well to the therapy. We saw improvements in her concentration, co-operation and co-ordination. However, after only a short time of being back at home, Rose regressed, negating many of the gains that she achieved whilst being there. This simply highlighted to us that Rose really does need a constant level of stimulation such as that as offered to her by Megan Baker House or a special needs school which she currently attends.
Rose returned to the mainstream nursery and once again, settled in beautifully. It was very apparent to us though, that although Rose did very well socially (she had quite a posse helping her with her work and activities), the developmental gap between her and her peers was just getting bigger and bigger. This was truly highlighted at the schools' Christmas play. Rose really didn't have a clue what was going on. It was only a few minutes into the show when Rose had to be taken out of the hall because she was getting restless. The difference between her and her peers up on that stage was remarkable.
Breakthrough at the farm
Because Rose did so well at Megan Baker House, we decided to do a return visit in February of this year. Again, it was for four weeks, but this time we stayed nearby on a working farm. This location had the most unexpected yet profound effect on Rose. Within days of arriving, she began to vocalise with the cows. We had never heard Rose vocalise before and as you can imagine, we were overjoyed to witness it. At every given opportunity we were putting on our wellies and spending as much time with the animals as possible. The farm runs a riding centre as well, so Rose took up horse riding and loves it. To this day we go on a weekly basis and have found the most amazing riding school and instructor who Rose just adores.
Before we went away on our second trip to Megan Baker House, we started the process of taking Rose out of mainstream school and getting her into a special needs school. Subsequently, she started at Amwell View (a school for severe learning difficulties) at Easter this year and settled in straight away. Everything about it, from the teachers to the facilities & activities on offer to her are just perfect.
The next steps
Due to her amazing response to the cows, we are desperate now to get Rose to a therapy centre in the US (www.waterplanetusa.com) which combines intense therapy with swimming with dolphins. Rose has two passions in life and they are swimming (she is extremely confident in the water) and animals. If we combine the two, goodness knows what results we might get. Reading the testimonials from other parents that have attended are just amazing. It really can have a profound effect on the children. We now know Rose can vocalise, we just need to find the key to unlock the part in her brain that will enable her to speak. We have such a short time frame. Doctors generally say that if a child isn't speaking by the age of seven, it is likely that they never will. Thus we only have two and a half years to do everything that we can for her.
To this end, we are now doing some serious fundraising to get together the £15,000 necessary for the trip. We plan to get there Spring 2008. Keep your fingers crossed for us.
Reading back over this story, it seems rather negative. Let me tell you about the Rose that Dave and I simply adore. She is the most affectionate child we know. She is constantly kissing us and sometimes we even get a lovely long cuddle. She fills us with joy. Apart from Ruby, we couldn't love another person any more. Yes it can be tough, but it can also be the most fulfilling feeling ever experienced. We love her dearly for who she is and all that she achieves.
Thank you for taking the time to read Rose's story
Esme Willcocks, 05 September 2007
