As part of Gaucher Disease Awareness Month, we’re sharing stories from Gaucher patients, family, and caregivers about their experiences and their journeys.
Want to share your story? Contact us and we’ll be in touch.
The following, as conveyed by Martin Perticone about his family, is slightly edited for formatting and style.
Tell us about your beginnings with Gaucher disease. How did you learn about it?
My wife, Natalia, started with symptoms at the age of 6.
She saw many doctors and specialists, but none of them seemed to be familiar with Gaucher disease.
Natalia went through so much pain during her childhood, even needing to use orthopedic devices to walk one year while she was in primary school. One doctor told her she was never going to be able to walk again!
She eventually found a doctor who thought she could be a Gaucher patient, but when they did the blood test, the cells were hidden and she could not be diagnosed.
It wasn’t until the age of 19 that she was able to get in touch with the best Gaucher team in Argentina; they performed a spinal puncture that was finally able to diagnose her with Gaucher disease.
She started with Cerezyme right away and her life really changed for good.
Ever since she was diagnosed, she’s been able to live a healthy and normal life, knowing that the harm caused by the disease was done – but also knowing that she would never suffer again as she suffered in the past.
Today, at 45 years old, she’s even training Crossfit with me!
How did you get connected with the National Gaucher Foundation? How has NGF helped you in managing your Gaucher disease and everything that comes with it?
I got in touch with NGF before we moved from Argentina, and they were a great support for me and my family. Besides my wife, 2 of my 3 children also have Gaucher disease.
Moving from another country is hard and getting accustomed to a totally new type of health insurance policies made it even harder, but NGF really helped us a lot through the whole process and even gave us financial support to pay our premiums, which are really high.
We’ve also had an amazing support from the Sanofi Santa Fe program.
What message do you want to share with patients and families that are just beginning their Gaucher journey? Are there any lessons you’ve learned that you think they should know?
First of all, do not panic.
Lean on your Gaucher Specialist Team.
This is a very rare condition and many doctors may not have even heard of it. The more information you can gather, the more you can be in touch with other patients and, of course, with the NGF, the more secure you will feel along this path.
Most of the time, you or your beloved ones will live a totally normal and healthy life.
If you could describe the Gaucher community in a few words or phrases, what would you say?
The NGF got us in touch with one of the patients who really gave us a lot of peace of mind when we arrived in the United States; giving us a lot of information about what to expect from the health system in the United States and about all his experience with hospitals, specialists and other public organisms.
We are all here to help each other because we know how you may feel about this condition, especially if you have just been diagnosed.