We have two
sons, Cian (born: April 1999) and Ailbhe (born: September 2001). Cian was
diagnosed with Cystinosis in April 2001, Ailbhe was diagnosed at birth, five
months later. This last year has been a roller-coaster ride of ups and downs as
we found ourselves in this horrible new world of constant hospital visits,
medications, vomiting, sleepless nights etc.
Thankfully, our sons have been
born in the age of the World Wide Web and it is through this wonderful
invention that our lives began to change for the better. We no longer saw that
"light at the end of the tunnel" as the "headlamp of the oncoming train"!
Communicating with people like Jean Hotz (President of the Cystinosis
Foundation USA) and Jonathan Terry (President of the Cystinosis Foundation UK
& Éire), who have put us in touch with some fantastic people in the
Medical world, all dedicated to finding treatments and a cure for this terrible
deteriorating disease has been a truly humbling
experience.
In June this
year (2002), we attended the International Cystinosis Congress in Paris,
France, where we got the opportunity to meet some of these wonderful people and
many of the families who knew just what we had been going through. To be able
to share experiences and new information with other families did us the world
of good. We met people from all over Europe, America and Australia. Their
stories touched our
hearts.
Hearing how
different people cope in different ways with "handling" this disease was an
eye-opener! We heard ALL the experts stress and stress again not just HOW
IMPORTANT but WHY IT IS SO IMPORTANT to administer Cystagon EVERY SIX HOURS AND
AT THE OPTIMAL DOSAGE. Now we understand that to compromise this regime in any
way is to actually COMPROMISE OUR CHILDRENS' HEALTH! It felt good to hear that
by keeping to this regime as we are, that our boys stand an excellent chance of
leading normal healthy lives and who knows…they may not require kidney
transplant until well into adulthood (if at
all!!!)
To actually
meet, talk and listen to people like Drs. Jerry Schneider, William Gahl,
William Van't Hoff, Corinne Antignac, Michel Broyer and Researchers like Neil
Dalton, Donald Cairns, Samantha Parker (from Orphan Europe) (to name but a few)
wasn't a "right" but a real privilage! We hope that by putting into practise
their recommendations that we will in the future (by our sons' good health) be
able TO SHOW THEM JUST HOW GRATEFUL WE ARE for the wonderful lives they're
giving our children by dedicating their own lives to the cause of finding a
cure for Cystinosis.
Dr.
Atif Awan, Paediatric Nephrologist from both Temple Street and Crumlin,
(Dublin's childrens' hospitals) in Ireland attended the Conference. He was one
of the Doctors who diagnosed Cystinosis in Cian. We're delighted to say that
after attending, he has suggested to the parents of all his Irish patients
(Four families, six children in all) that he would like to set up a
"Cystinosis" Clinic. This would be where we would all get the opportunity to
meet him (and each other) at the same time every six-twelve months. A fantastic
idea…Thank you Atif! As we actually live, in Cork, (about 150 miles away
from Dublin), this is a perfect solution for
us.
Cian & Ailbhe
normally attend Dr. John McKiernan (Paediatric Consultant) at the Cork
University Hospital. Dr. McKiernan and the staff in the Children's ward at CUH
have always been very open and approachable, when it came to receiving new
information from the Medical World of Cystinosis via e-mail communications
between us and the Cystinosis
Foundation.
It is
incredible to believe that a condition as rare as Cystinosis has so many
dedicated people in so many areas of expertise all working together for the
good of our children. Let us all as parents and/or patients show our gratitude
to them, by putting into practise what they have shown to be the best possible
treatment to prevent the terrible consequences of Cystinosis. Regardless of
"how inconvenient" it may sometimes seem to follow the regime let us remind
ourselves that the long-term effects of this disease are far far more
inconvenient and damaging in our
lives.
Our thanks also
to people in France like Francois & Beatrice Couppey, Isabelle Manciet,
Ghislaine & Jacques Vignaud and the many others who made the Conference
possible. You did a fantastic job putting the Cystinosis Congress together. We
are indebted for the love, knowledge and understanding we received by all who
attended.
Humbly,
Al & Seandradh O'Cathasaigh,
Co.
Cork, Ireland