A recollection by Peter Chadha, father of Ria Chadha in the hope that some points may help other parents and patients.
Our story began in London England , May 1999, when after a period of infertility suddenly Binu my darling wife became pregnant again with our second child after some six or so years of trying. We were over the
moon!
At normal term, a baby girl was delivered weighing in at 2.2 kg (under 5 lbs) by a planned caesarean section. With the low birth weight, we also learnt that all was not quite well as the physician thought our
baby, whom we named Ria, had been having problems growing due to a damaged placenta.
Nevertheless, Ria was a seemingly bright, very fair and normal looking baby (at least to us), and after being on the small side she began to gain weight reasonably and seemed without further any issues.
Regrettably this changed with her first inoculation (vaccination), around September when she was four or five months old.
She used to be lively and jumped on up and down her legs etc like normal babies do. But after this inoculation she became very, very ill and after two weeks of suffering with it (as experience parents we initially
did not panic but assumed these were just symptoms of the jab) she was admitted to hospital. The doctors thought she had a viral infection in her liver. She was very ill and from now on Ria was a really ill child
and it was the start of a living nightmare for us and only God know how bad it must have been for her. She hardly suckled and if she did she would projectile vomit or have diarrhoea. She lost weight and her
growth became static (it actually seemed to regress) any sign of baby chubbiness gone to skin and bones.
She had various infections and a poor respiratory system. We never seemed to sleep and our whole world was turned on it head focussing on our beautiful infant. We frequented hospital numerous times and her feeding
had even to be done by nasal drip so that little drips of milk could be taken in slowly without her body vomiting. Oh those horrible times - her life was dangerously touch and go.
Doctors had no idea what she has but suspected various physical thing like a twisted gut and genetic problems and she was tested for Blooms and Falconis syndrome among other etc. (Even this was tortuous for her as
she was so small the nurses could never find her veins.)
At about 6 month Ria had a prominent rash on her cheeks and cradle cap on her head. She continued to not grow (or "failure to thrive") yet her diagnosis of RTS was unknown. At 10 months we properly understood she
had a problem with her Calcium which was has been so low at times doctors could not understand how her body functioned (thus we use multiple types of supplementation). She was not walking (and only began walking
at two).
All this time we had been with a supposedly good teaching hospital but diagnosis evaded us. In desperation we the fought to be transferred to the world famous Great Ormond Street Hospital for Sick Children in
London ( a hospital made famous by Princess Diana its late patron and Peter Pan character).
Even here diagnosis took time though seeing many different doctors. It was only when Ria met Professor Harper, a dermatologist that we learnt that her problem was RTS, but this happened after the age of two! He
diagnosed her because of the poikiloderma rash and the fact she could not turn/twist her hands (or supinate). She also had "light" bones (ostepenia) as she fractured herself by just sitting down.
Although it was a sort of relief to know what she had - it was sad as we learnt about all of the impacts RTS can have.
Ria's poorliness has continued, medical issues include:
- Poor (almost non existent) growth (see later)
- Malformed teeth - which means she ate liquidised foods for a long-time and now east softer solids.
- Nail and foot problems.
- Continued gastric and bladder weakness.
- Poor sleeping.
- Flaky skin highly susceptible to infections (Treated with Elidel). Very thin and now very dark. (Treated with Elidel)
- Cornified and warty skin.
- Osteopenia (weak bones- tendency to fracture)
- Weak immune system.
- Ear nose problems with hearing difficulties (she now wears a hearing aid) and nasal discharge
- Delayed mental development, reading and writing are very difficult. Her memory is poor , she cannot use logic and sound words out, rather learning word by recognition. Her speech is delayed and she found it
difficult to adjust to school (even though she was supported, when she was younger she would not even talk). However, interestingly she seems finely dextrous and artistic.
We took Ria to Houston in May 2003, there we met the prolific Dr Lisa Wang and her brilliant team and friend likes Gill and Victoria, fellow RTS patients (what a relief that was to see a real-life grown-up person
with RTS!).
After 3 years of age Ria's day to day has settled somewhat especially given improved Calcium treatments and a lot of praying. Her growth rate had essentially halted (yes practically no growth at all). Her sister
who is four years younger acted as a barometer as she grew taller and taller versus Ria. Although the case for using Human Growth Hormone was unclear her endocrine specialist doctor (Dr Brain of Great Ormond
Street) decided HGH was worth a try, after much testing. We had not been keen until she was more stable but in any case at the age of 6 Ria started this treatment. Today at 8 years old she still weighs less than
a typical four year old but she is growing! We attribute this to HGH as the change is clear when she started this.
Writing this story is very difficult - It is like a kind of cornucopia of bad things! You also remember the black painful times and of course your mind is drawn to the future which if you think too hard can be
even more painful. However we try and we live life on a day to day basis and enjoy the time we have.
Moreover, Ria is a gem. Somehow she is very strong person. She is energy. People love her. People in our community and school know her - even though we don't know them! She has a magnetic personality wherever she
goes. They love her smile and her charm. More than once she has been described as an "old soul".
Personally I feel indebted to her because we are much better people that we were. We were never "bad", but we were arrogant focussed on our average seemingly well-to-do "2+2=4" lives. She though has taught us
about the value of life and enjoying each day (good and bad) and brought us down to earth. She has also made me very spiritual as we have turned to the Source (God) to help support us. In fact I have been awaken
and learned spiritual Reiki healing and many other things too, beyond the imagination of a scientist I once was (PhD of Chemistry no less).
This is why I guess challenges are sent to us, why bad things happen to good people. It's about how your learn and how you react. It's about love and kindness. Ria has taught us these things. She is our little
angel.
I hope our story helps.