Hi, my name is Sue and I am the mother of Karyn, the eldest surviving in Australia with a rare syndrome called Wolf Hirschhorn Syndrome. For those of you that haven't a clue of what this syndrome is, it is an abnormality that affects the fourth chromosome and depending on what part of the chromosome is missing or translocated depends on the severity of the disability. Karyn is severely mentally and physically disabled, she can't walk, talk, dress herself, hygiene herself, wears incontinence aids and is fed through a button in her tummy

Karyn was very tiny when she was born and I can remember my mother telling me that she looked just like a porcelain doll, pale (almost translucent skin) with rosy cheeks. Obviously something must of been wrong with her as they whisked her away after a fourteen hour labour that ended in an emergency caesarean and I didn't see her for three days until my hysterical crying made them decide to take a quick photo of her with me and race her back to ICU.

The first I new there was anything not quite right though was on the fourth day when the Paediatrician who must of thought that an eighteen year old understood these kind of things, came to my bedside with a room full of visitors and proceeded to tell me that they were sure she didn't have Downs Syndrome but couldn't explain what her affliction was.

This was the first time I even knew they were looking for something wrong.

Surprisingly though, must have been due to my young age, I didn't fall apart. I stood my ground and told him that there was no way I was leaving her behind, even though they thought it would be best that I just got on with my life, I said I would look after her as best I could for as long as I could. We never knew what the problem was with Karyn and because she didn't have a label I had no support from any agencies in her early years right up until she started at Special School.

Karyn was nine weeks old when we took her home from hospital to die. She was no bigger than when she was born and I fed her with a Naso-Gastric tube and an eyedropper. I tried to feed her with a bottle at the start but it would take anything up to an hour to feed her due to her Cleft Palate.

Karyn had her first Grand Mal seizure (commonly known now as Tonic Clonic) at seventeen weeks old. It took many years to regulate the right combination of drugs to control her seizures and each time she had one I would think this is the one that is going to finish her, but somehow she would bounce back and I would feel a little silly that the family was called to say goodbye once again only to struggle through waiting for the next seizure to hit.

Karyn spent most of the first few years of her life in hospital due to her almost non-existent immune system. She would get well, come home, be brewing something she caught in hospital the last time and would end up back in hospital again only to repeat the cycle over and over again. The hospital staff were fantastic, we were like a big family. They got me through some very emotional times including Meningitis, Reyes Syndrome, Measles etc etc, you name it she caught it.

Karyn also has spent many years in leg splints and plasters trying to fix her congenital dislocation of her hips. I think it is close to twenty operations on her hips, which ended up with a Femoral Osteotomy. She also had a Fundoplication done, as her Oesophagus didn't have the valve that seals off the Lungs from the Windpipe. She has had Grommets and for eighteenth birthday present she was three weeks in the Royal Brisbane to have her Scoliosis corrected with rods.

When Karyn was fourteen, after her Femoral Osteotomy ended in bone infection, as she was recovering yet again in hospital a wonderful Doctor came into our life who I will be forever grateful. On discharge he gave me three appointments in Brisbane, one for the Scoliosis Clinic, one for Orthopaedics and one for the Genetics Clinic. My shock was obvious as I said to him "you know what she has don't you". He replied that he had seen the same features in a child he had seen in Ireland and the Genetics Counsellor he was sending us to was the one he had worked with over there.
As soon as we saw the Counsellor she told me Karyn had WHS and took blood form Karyn and I for DNA testing. The tests took two weeks to come back and the result was positive with Karyn missing only the very tip of the Chromosome band and that I wasn't the carrier. Some friends I had couldn't understand why I was so excited to find out what Karyn had even with grim prognosis that went with it.

The Counsellor put me in touch with the WHS support group in Sydney and I rang to find out when I could come and join in the next meeting. The lady I spoke to must have been smiling as she told me how rare this Syndrome was (under twenty at the time) and that Karyn had the grand title of eldest surviving in Australia and New Zealand. So I didn't get to go to a support meeting as they didn't have them because the families lived so far apart.

In 1999 my family with a Carer in tow arrived in Melbourne for the first ever Wolf Hirschhorn Syndrome Support Group Conference in Australia. There weren't many times that weekend that I didn't have tears in my eyes, I finally felt we belonged somewhere. Every family had their own tale to tell but the stories were all so familiar. We listened to many special guest presenters during the weekend, laughed together, cried together, made new friendships and left with a feeling of completeness. The only downside was that of all the families that attended, most went home with Chickenpox but I didn't care as it was so important to all of us to be there.

The Conferences now are held biannually. In 2001 it was held in Armidale, in 2003 I hosted the next one and 2005 Darwin was the next stop. The next contender is in the Barossa Valley, we can't wait for that one, I hear we might be able to do a little wine tasting, for medicinal purposes of course. It is very important to have these opportunities to meet and it is especially important that the families with younger children with WHS get to see Karyn and the other young adults, WHS is not always what the Doctors would like us to believe. The spirit Karyn has will keep her alive for many years to come.

This is just a little of Karyn's history and why did I feel I wanted to share her story with you? Karyn was twenty-four in June this year. I still remember the days I was told to take her home to die, and even when she was diagnosed with WHS at fourteen and we were told then that she was way past her use by date we refused to give up. There is not one moment of Karyn's existence that I regret. Sure we have had some bad, very bad times but the good times and every milestone as small as it may be have far outweighed the bad. Karyn is living independently, is happy and relatively healthy.