When you hear your newborn’s been diagnosed with a rare disease, you may feel like you have to become a scientist in order to raise them.
Parenting a child without an illness can be challenging in and of itself. Learning how to be a parent AND deal with a diagnosis you don’t understand is overwhelming. In order to help your child live a normal life, you have to learn the basic science behind their condition.
However, it’s not uncommon to feel like you don’t have the resources to do that. The search to find such resources is often extremely time-consuming. In the age of technology, you’d think information on any topic would be readily accessible. But there’s still a lot our world doesn’t know about rare diseases.
Carbamoyl phosphate synthetase deficiency (CPSD) is one of those diseases. It can be so frustrating as a parent to not have the information you need.
Fortunately, the Pacific Northwest Regional Genetics Group (PacNoRGG) has compiled a booklet for new parents who are trying to figure out the basics of parenting a child with CPSD. Consolidated to 8 pages, they hope to provide a basic understanding of the condition to get you started.
- A basic overview of your child’s condition
- Nutrition guidelines including specific foods to include or delete from your child’s diet
- What to expect at your child’s medical appointments
- Advice for social concerns you may have
- An explanation of the genetics behind the condition
- Resources organized by state that may be helpful to you
- A glossary explaining the complex medical terms of the condition in simpler language
While there’s a lot more to learn than presented above, this is a great starting point for the education process. You don’t have to go back to school for your Ph.D. just because of your child’s diagnosis. There are resources out there. They just may be a little tricky to find.
We hope this booklet helps you!