When our second daughter was born, we knew something was wrong. We searched and searched for a doctor to take us seriously, to really examine all her symptoms (from multiple systems) and someone who wanted to help. She was hurting and we didn't have any course of action that really relieved any of it. It has been a long 6 years. In this journey we have seen 29 doctors from a variety of fields, have tried every type of cream/lotion out there, and have tried multiple diets. It has been a long 6 years.
In the past 3 months one of our doctors suggested we get some further blood work done, just to see. We went to our pediatrician and asked for the testing. He consulted with a geneticist and she wanted to see A. Long story short, we went and saw her (she was fabulous!), and she suggested we do go ahead with blood work but also see one more dermatologist to answer some questions she had (and to get a skin biopsy that we have been asking for for 3+ years). We were hesitant, but we went to the Dermatologist. He was great as well! He really looked A. over, listened to all we have tried and understood we were not coming to him for another steroid cream. He sat back, thought for a moment and went on to explain that he was fairly certain he knew what A. had. He agreed we needed to do a skin biopsy (that would confirm his suspected diagnosis), and did one right there in the office. The results came back in 2 weeks and he was correct. We had a diagnosis.
She has a genetic skin disease called Icthyosis Vulgaris. It is not curable, nor will she outgrow it.
But, we have a name. In a matter of a 30 minute office visit, and one test later we have an answer that 28 other doctors couldn't (and wouldn't look for in some cases) find. We praise God for His mercy in allowing us to have a clear answer, yet pray that He graces us with the strength, and grace to carry on in this next segment of our journey.
We go back to the Dermatologist in 10 days for the followup where we can ask all the questions we have, but we wanted to share with you where we were at. We are also waiting for more blood work to come back. We will be sending a letter to every doctor we saw with this diagnosis and A.'s picture. We hope that thru this letter, they (the doctors) will take more time with their patients (and their parents) and listen to what the parents' concerns are. Parents are the experts of their children.
We would appreciate your prayers for A. and us as we navigate this new journey. We don't have a clear picture of what all it will entail. Although, please know that I have done my research on this and have a list a mile long of questions for the doctor. In saying that, please refrain from sharing suggestions or rebukes on what we should do or should have done. This is where we are, and we are praying for the Lord for guidance. We do just want the best for our sweet A.