The Diagnosis
what is cystic fibrosis?
Cystic Fibrosis (CF) primarily affects the lungs and digestive system. People with CF develop an abnormal amount of excessively thick and sticky mucus within the lungs, airways and the digestive system. This causes impairment of the digestive functions of the pancreas and traps bacteria in the lungs resulting in recurrent infections, leading to irreversible damage. Lung failure is the major cause of death for someone with CF.
Treatment generally involves:
- Intensive daily physiotherapy to clear the lungs
- Enzyme replacement capsules with food to aid digestion
- Antibiotic therapy to treat lung infections
- Aerosol mist inhalations via a nebuliser to help open the airways
- Salt and vitamin supplements
- A nutritious diet that’s also high calorie, high salt and high fat
- Exercise – important to help clear the airways and build core strength
There is currently no cure.
The Diagnosis
The very next day after finding out about Genevieve and Penelope’s diagnosis, my husband and I were sent to the Women’s and Children’s Hospital to meet with the paediatric CF specialist. It was information overload!
We were told that the girls had a rare gene combination, only 300 cases ever recorded worldwide. There is limited information on how their CF is going progress, this has made it very challenging to come up with treatment plans. We are going to learn along with the medical team about their form of CF. Only further testing and life itself will give us more information.
Finding out this information didn’t settle our nerves anymore due to the fear of the unknown. However, we did find out we will have a great team involved in our journey. Our medical team includes a CF nurse, respiratory specialist, dietitian, physiotherapist, gastroenterologist, social worker, genetic counsellor, pharmacist & psychologist.
The next step was to have CF specific testing done once the girls were discharged from hospital and that would give a better idea of the severity of their condition.
The only thing more terrifying then finding out you’re pregnant with twins is that they have an in-curable illness. This blog is to share our Cystic Fibrosis journey, to help continue spread awareness about CF and the reason why I started ‘It’s a Twin Thing’.
Lorraine X