Newly Diagnosed With PC
We hope the website is helpful and you are welcome to contact us at any time with any special needs or questions. If you or your child have just been diagnosed, may we suggest these steps:
1. Confirm the diagnosis.
PC may be diagnosed by clinical diagnosis where a physician makes a diagnosis based on the appearance of the features which the patient has (or phenotype) or by genetic testing where the diagnosis is made based on determination of the specific mutation (or genotype). While clinical diagnosis is very important, there are many similar disorders and only genetic testing provides complete confirmation of the condition.
PC is a syndrome of different conditions. A mutation in one of the keratin genes K6a, K6b, K6c, K16 or K17 causes Pachyonychia Congenita. Nearly There are nearly 100 different mutations have now been identified each causing slightly different conditions for patients. Genetic testing identifies the specific gene and mutation and provides many benefits including (a) allowing a patient better understanding of the features of their own type of PC (b) allowing connections with others who have the identical type of PC (c) enabling researchers to target treatments to specific genes and mutations. In addition, PC Project ensures that patients receive complete written reprots of their genetic testing finding which provides valuable documentation which can be useful in many circumstances to validate the condition.
2. Request free genetic testing
Genetic testing for PC costs from $2000 to $3000 for each patient. However, because of the importance to patients, PC Project provides genetic testing at no cost to patients who join the patient registry. For the testing, no travel is required and the benefit is available to patients living anyplace in the world. The steps are simple (a) fill out the forms (b) provide photos of the condition (c) receive a telephone consultation with a PC dermatologist (d) if referred for testing, a special saliva sample kit will be sent (e) simply spit into the kit and mail it to the laboratory.
3. Connect with other PC patients and parents
PC Project understands the importance of 'community' when diagnosed with an ultra rare disease like PC. There are a number of opportunities to join the PC community including:
- Annual Patient Support Meetings (in USA in odd years, in Europe in even years). Fees are paid by PC Project for first time attendees and scholarship awards are available for those who need financial assistance to attend.
- Webmeetings are free and are organized for specific groups, localities or needs.
- Patient Chat Facebook page for those who join the patient registry
- Email contacts; if you request this, PC Project will share your email with other parents/patients
- PC Awareness Events are hosted every June