Our story about Gaby’s 6 years of missed diagnosis, and how you can prevent this from happening.
APS Type 1 is an extremely rare disease, in our case misdiagnosed for many years. We have met a few people that have the disease and many have similar stories. Awareness about this disease and making sure physicians read the signs and do the research is critical. Make sure when tests are run, if something doesn’t look right, assume that it isn’t correct first before you assume the test had a faulty reading, find out why from our story.
Gaby was born a healthy baby in January of 1995 with no issues outside of the normal challenges for new parents. As you know Candidiasis is the first sign of this disease. Gaby’s came out as a rash that would come and go with no directional influence. The pediatricians at the time would ask us from visit to visit where the rash came from, actually forgetting that it was discussed on the last visit which was very frustrating. My wife made appointments for a battery of tests at Childrens Hospital in Philadelphia against the direction of our pediatrician. (The first of many steps we would take against the advice of doctors) When we completed all tests, there was never a diagnosis of Candidiasis. It was labeled an “unknown rash”. When Gaby was 18 months old we moved to Boston and the rash disappeared. We postulated that it was due to the forced hot air system in the old house and that was it.
From 3 to 6 years of age we experienced normal development and all looked good except for her teeth. She had a lot of hypocalcification that at that time was thought to be caused by high fevers that she had as a child. Her teeth were the next sign that there was an issue but it was never further investigated. Around the age of 6 she had her first siezure. She had a cold and wasn’t feeling well and had a very brief siezure. We went to the hospital and they checked her out with a quick diagnosis of “Febrile Seizures” Keep the fever down and this won’t happen again we were told. About a year later she had a bad one, also related to a high fever. Into the emergency room we ran. Same diagnosis but this time a battery of tests was suggested because she had moved beyond the age of normal febrile seizures. Epilipsy was the next possible diagnosis.
Gaby went through all the tests, overnight monitoring, stressed EKG’s, etc. When everything came back normal we were promptly dismissed as an abnormality and told she has febrile seizures. The Neurologist wouldn’t even discuss the test results with us. He had the front desk call us to tell us that everything came back normal. (To us it was like, I don’t see anything, go away) So on we went, she had one more siezure again related to a cold and a high fever. Tests were run and on the last visit they noticed a low calcium level. ER attending dismissed it as a bad test and we were sent home.
Throughout this period, 6 to 11 years of age, Gaby had a new pediatrician who ran normal development test and nothing every came back, that we know of, as an off reading. In February of this past year Gaby got a stomach bug and started throwing up in the middle of the night. It was pretty bad and had a rough night. By the morning we were getting ready for work and she had a severe siezure, one that required injections to get her out of the siezure. We were never that scared in all our lives and thought we were losing our daughter.
When we arrived at the hospital again tests were run and the calcium was low. (Reading of 5) The ER doc was going to dismiss as a bad reading when a good friend of ours that was a physician at the hospital recommended another test. This time the same reading came back and the Intensive Care Chief of Pediatrics was called down for a consult. Gaby was coming out of the Seizure but her hands were rigid and she was very stiff all over which was very scary. The Physician reviewed, consulted with a Pediatric Endo on staff and Gaby was diagnosis of Hypoparathyrodism. We would spend 6 days in the hospital on IV and pills to finally get her calcium to the right levels.
Gaby had always struggled during exercise complaining of cramps. From 6 to 11 years of age Gaby most likely had Hypoparathyrodism that was never diagnosed although she had many chances if someone had read the test results and took them at face value. So, this is what she has, she can live with this, on we go with our lives.
Thanks to the efforts of a strong Pediatric Endocrinology Group in our area, further tests were run to rule out all the other conditions. As we were told they all had extremely low probability so you don’t need to worry. About a month later we got the news that the antibody was found positively in her adrenal gland and that Gaby had APS Type 1 a very rare genetic disorder. We were shocked, stunned, and couldn’t believe it. That was the beginning of the road that we now travel.
It’s been a rough road and we know we have many obsticals ahead. Candidiasis, Hypoparathyroidism, and Addison’s Disease are the usual benchmarks of this disease….where it goes from here is different for every patient leaving the patient and the family always waiting and wondering when something else is going to happen. That can drive you crazy!
For now, we put our trust in the Lord, and we make sure that Gaby is doing everything she wants to do and is enjoying preteen years. We hope that there is a cure in site and we can one day move past the worry and look forward to the future.
What have we learned?
- Always trust your gut….if you think there is a problem investigate it. If you didn’t get an answer that meets your needs look elsewhere.
- Look at your labs…we never saw the tests run on our daughter, we do now. I may not understand the results all the time but it does help in asking the right questions. We may have and should have caught this disease much sooner saving us a few seizures and tough times for her in school
- You are your childs #1 advocate. You have to understand the disease and what it does as well as the physician does. Educate yourself and read everything you can get your hands on.
- Finally, believe in yourself. We are hoping to find a cure for this disease and we are surprising ourselves everyday of what we are capable of. We are launching a web site, something we knew nothing about 6 months ago. We are starting to learn about fund raising We will hopefully start a non-profit organization in 2007. You’d be surprised what you are capable of when you put your mind to it.
Our family motto: If it’s meant to be….it’s up to me!
Todd and Heather Talarico