Tuesday 21 June 2011

Uncle Joe is swimming the English Channel for CFC!!

Our friend, Joe Hunter, is swimming the English Channel this weekend and has decided to raise money for CFC International and to raise funds to buy a specialist bike/trike for my son, Marcus. If you would like to make a donation to CFC International see www.cfcsyndrome.org. If you would like to make a donation towards Marcus' bike, either contact myself or Joe Hunter privately. Alternatively, you could leave me a comment at the end of this blog entry and I'll tell you how to make a donation.

Marcus, suffers from Cardio-Facio-Cutaneous Syndrome. (For more detailed information about the syndrome itself see www.cfcsydrome.org).

CFC syndrome is very rare and affects less than 300 individuals worldwide. It is a genetic disorder caused by a random mutation. To put this into context, no- one else in our families either carries the gene or suffers from CFC Syndrome therefore we were not at any greater risk of having a disabled child. I enjoyed a normal pregnancy with no unusual complications, a normal labour and gave birth three weeks early to a seemingly healthy baby boy weighing in at 7lb 15oz.

We brought Marcus home the next day to meet his 19 month old sister and we began to adjust to life as the parents of two very young children. Quickly we began to realise that all was not well with Marcus. He vomited frequently, wasn't growing, fed very poorly and slept all day and night. He contracted RSV at three weeks and practically gave up feeding all together. I'd sit and dribble 2oz of breast milk into him over the course of an hour only for him to vomit it all back up again. This continued day and night. By seven weeks, Marcus was still a full pound lighter than his birth weight and he was admitted to the local hospital. He was subjected to a full array of investigative procedures and the doctors tried various drugs to alleviate the sickness, to no avail. I kept hoping that the next drug would make a difference but none of them did. No- one could tell me what was wrong with Marcus or why he wasn't feeding or growing. He underwent serious amounts of genetic testing and each and every one came back all clear. The doctors were flummoxed and that is terrifying as a parent - doctors are supposed to have all the answers ....

Marcus was eventually admitted to the Royal Victoria Infirmary in Newcastle to be fed intravenously whilst the doctors there tried to find a way of managing his condition. We remained there for 3 months initially and Marcus was readmitted many times throughout the first two years of his life. Throughout this time, Doctors still had no idea why Marcus was having so many problems and Marcus' general Paediatrician always tells me that he really did not expect Marcus to live past his first birthday.

Marcus' health has improved steadily since those early days and we are truly thankful for this. Marcus was diagnosed with CFC syndrome at the age of 2 and we put in touch with Brenda Conger from CFC International. All of sudden, thanks to Brenda, we had lots of information, a 'CFC Family' and a CFC conference to look forward to. Once we'd recovered from the initial shock of the actual diagnosis, Gary and I were able to read all the brochures and studies provided by CFC International; talk to and meet other families in the UK and around the world. Suddenly, everything made sense, we could accept that we had a child who would need extra help and care throughout his life. Marcus needs have changed a lot since he was born. He's no longer tube fed or medicated round the clock but his develmental delay is significant. He is 6 1/2 and cannot speak and is not toilet trained. He is unsteady on his feet and cannot manage stairs unaided. Children with CFC are prone to seizures to we must be on the look out for those and Marcus has a growth hormone injection every night before bed.

The very existence of CFC International means that we are not alone; the other parents often offer advice and solutions when the medics cannot. Whenever we're feeling isolated, marginalised or just plain fed-up and exhausted - there are always other CFC parents on the e-mail list serve, ready to offer comfort, advice, support or just an ear. It's very reassuring to know you are not alone and bringing up a disabled child can be very lonely at times.

Please donate. Try to imagine having a child with a condition so rare and have difficulties that are so extreme that no-one is able to understand or explain them to you. CFC International gives us so much; please help me to show how grateful I am by voting for them. Thank you.

Saturday 4 June 2011

Hello All

It's been a while since I posted. Once again, I've been swept along with the chaos of family life with barely a moment to stop and reflect.

Marcus continues to make great progress and he had a great annual review with both teachers from each school agreeing that the dual placements really serving Marcus well. He is becoming more independent, his speech is developing slowly and his physical strength continues to improve all the time. His baby sister, Romilly, is providing the best therapy ever. They have taken to mimicking each other an Marcus tries to copy the noises she makes; Romilly shouts - Marcus shouts and vice versa. Romilly is also picking up on the Makaton really quickly and her favourite sign is "STOP"! Very useful with a big brother who likes to dive on her ankles and rugby tackle her to the ground.

I can't help but compare my children, especially Marcus and Romilly because she is beginning to overtake Marcus now in some areas of development. Already, she is much more agile and quicker on her feet; her sounds and words are clearer. In Marcus' favour, his thinking and understanding is much more sophisticated and thank goodness, we have learnt Makaton so that he can express himself to us. Marcus still loves books and stories but he especially likes to make up stories with people and characters he knows. His stories usually include helicopters, hospitals and Balamory!!

We're still working on the bike for Marcus, we've found and trialled the perfect model so hopefully we'll be able to purchase that soon.

We've enjoyed a fantastic half-term. Really relaxing and we've really enjoyed the warm weather. Yesterday, we went to Monk Park Farm; Romilly and Marcus really enjoyed the guinea pigs and the sand pit. YES, you heard that right. Marcus has spent every holiday on the beach, hiding in his buggy with his hat over his face: hating the sun and hating the sand. Yesterday, my little man managed to enjoy both! And, he also managed to eat some cake in the cafe. Now that's what I call a progress!