Diagnosed With Alpha-1, Now What? (Part 1 of 3)
Last updated: April 2021
I was diagnosed with Alpha-1 Antitrypsin Deficiency (Alpha-1) almost eleven years ago. I was so lost at times and wished that I would have had a little more guidance from the beginning. Over the years I have learned more from other Alpha-1 patients, from going to Alpha-1 conferences and education days and from support groups. It’s always so important to stay on top of our disorder.
I would like to help guide those newly-diagnosed Alphas with moving forward in the right direction. Here are some things that I have learned to be helpful for me and other Alpha-1 friends and family.
Find a specialist
The very first thing I would do is find an Alpha-1 specialist. An easy way to find one is to go to the Alpha-1 Foundation's website and look for the one in your state. If you don’t find any in your state, look up all neighboring states. An Alpha-1 patient should be seen by a specialist at least one time at the beginning of their diagnosis even if they are not having any symptoms. This is important because you get a starting point for your disease and so doctors can go back and use those test results for reference. If you start to decline they will be able to tell by those previous tests. This includes your liver also not just your lungs.
One of the great things about the Alpha-1 Foundation is that if you don’t have insurance to cover that visit they will give you a one-time grant to help towards your travel and for paying for that first appointment. It’s a great place to start and then you can always bring any test results to a pulmonary doctor in your area or continue seeing that specialist if you’d like.
Tests to get
Some of the tests that I would suggest that you get even your doctor doesn't suggest them are as follows.
Six-minute walk test
This will help to see if you may need oxygen with activity. I think when my previous doctor saw me sitting in his office, he did not see me out of breath, and my pulse ox was fine after resting. I feel if he would have done this test in the first place, I would have been on oxygen then instead of a year later when I went to another doctor who did that right away.
A great tip is to buy yourself a pulse oximeter so you can keep track of your oxygen levels at home also. This is the little device that they usually put on your finger at your appointments or if you go to the E.R. You can pick them up for twenty dollars and up at your local pharmacies and chain stores.
Chest X-rays and CT Scan
These will help your healthcare team determine whether or not you have any lung damage.
Pulmonary function tests (PFT)
These will help your healthcare team determine the general health of your lungs.
Liver function tests
These often include blood tests and a liver ultrasound which help inform your healthcare team about the health of your liver.
An overnight sleep study
This will measure your oxygen levels at night to see if you may need oxygen while you sleep. It can also help determine whether or not you may have sleep apnea and could potentially benefit from a C-pap with sleep ( a machine that helps put out continuous positive pressure into your airway).
Please remember that these are doctors that we hire for us. They should listen to us when we ask for these tests even if they think it is not necessary. We need all of these tests to have baseline information. I also suggest asking for copies from every appointment and every test that you have done. I found it helpful to start a binder to keep all of my records in. This may come in handy down the road for insurance purposes or so you can go back and look at it for yourself. You may also need them if you end up having to apply for disability in the future.
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