Martha has a rare genetic condition called Wolf-Hirschhorn Syndrome. This is the result of a genetic difference in chromosome 4 and it’s estimated to occur in 1 in 50,000 births.
Imagine if your child had a syndrome that causes malformations in most parts of the body and craniofacial dysgenesis. How would you cope and who would you turn to? It is estimated as few as 180 people – mainly children – have the syndrome in this country. As there are so few, information and support is difficult to come by, as a member of staff here at Collect a Case, Natalie and her fiancé Nev have come to learn.
Natalie gave birth to Martha on August 16th at 5am. Martha arrived a day late, weighing in at 7lb 1oz. Everything seemed that of a typical birth and Natalie was told that Martha was perfectly healthy.
But this joy was short lived, as by 3pm Martha began to choke and she was immediately rushed to the SCBU ward where she temporarily stopped breathing. She was later diagnosed with a floppy throat and the doctors had noticed that her left foot was slightly bent.
Already at 5 months old, Martha has been through so much, but unfortunately the story goes on. Everyday Martha needs physiotherapy to help her blood circulate and help her muscles to grow. She also has regular consultations with a host of medical professionals such as the Genetic Councillors, Speech Therapists, Eye Consultants, Cardiologists and Audiologist.
Days passed and unfortunately Martha wasn’t thriving as expected; having difficulties feeding and losing weight rapidly. More tests revealed a slight murmur (a little hole) in her heart and that she had tight valves hindering her development.
Martha was admitted back and forth to the hospital which prompted medical staff to take more precautionary procedures. A simple eye test revealed that Martha was having difficulty fixing on and following the light caused additional concern. With symptoms adding up, it was decided best to carry out a chromosome test (testing of the gene). The results concluded in a diagnosis of Wolf-Hirschhorn syndrome. Throughout this time Natalie and Nev have had to feed Martha every 2 hours.
This must have been exhausting, especially with Martha’s sister Nancy still being young and still heavily dependent on her mother. On 25th February Martha is due in hospital again for a pre-op to permanently insert a feeding tube. Martha is currently connected to a Nasogastric Intubation (NG Tube). This process involves the insertion of a plastic tube through the nose, through the throat, and down into the stomach to ensure she is able to feed.
Already at 5 months old, Martha has been through so much, but unfortunately the story goes on. Everyday Martha needs physiotherapy to help her blood circulate and help her muscles to grow. She also has regular consultations with a host of medical professionals such as the Genetic Councillors, Speech Therapists, Eye Consultants, Cardiologists and Audiologist….I know, right!
Hearing and seeing what Martha and her family have been through, it only seems right that we show our support and so Collect a Case will be having a fundraising day towards the end of February. The aim is to do what we can to help raise money for this worthy cause to support Martha and her family as they learn more about her condition.
Support has been shown in a whole range of ways, with work colleagues and close friends to the family, Abby Hadfield and Pebbles Bradbury, going as far as having the tattoo “4p-” (the missing gene). It’s even better that the tattooist contributed the all of his fee to help with the cause. Rachel Massey, Emma Houghton and Natalie will also be participating in the BUPA 10K Run based in London. The route starts and finishes in St James Park and takes in some of London’s most famous sights including Big Ben, the London Eye, Buckingham Palace, the Houses of Parliament and Westminster Abbey.
You can follow the link to sponsor Rachel and Emma for their efforts. We all wish them the best of luck!
I’ll be posting further information within the next couple of weeks about our fundraiser, so please stay tuned.