If we turn back the clock to when Jasper was diagnosed with alpha-1 antitrypsin deficiency (AATD), our minds were in disbelief and our hearts were heavy. My husband and I were overwhelmed with mixed emotions. We had just been delivered a lot of information and our futures seemed uncertain.

It’s taken some time to digest but we now know knowledge is power. We are grateful that Jasper was diagnosed so early and we can see Jasper is responding to his medication.

Two weeks after the diagnosis, Shane, my husband, and I finally had the strength to have ourselves and our older 2 children tested. It is something, on one hand, we wanted to do but on the other,  something we didn’t.


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We were fearful of receiving more bad news. Fearful of having 3 children under the age of 7 with a chronic illness.

We already knew that we each had at least 1 Z copy. But what if we also had 2?  We have since learned that those whose lungs are affected, they often don’t show signs and symptoms until later in life.

Before visiting the pathology clinic, we spoke to our children about why we were having the blood tests and that we needed to do it for ourselves and baby Jasper. Oscar, 6, and Ivy, 4 were incredibly brave. Ivy shed a few tears but it was me who was crying inside.

Megan Adams and her husband Shane with sons Oscar and Jasper and daughter Ivy. Credit: Charlotte Highfield, Little Rose Photography

Putting my children through this testing pulled my heartstrings. Our children looked scared. This was new to them. I already felt somewhat numb, not to mention the guilt that was starting to bear down on me for passing on a genetic flaw to my children.

Read more about the etiology of AATD

It took some time to receive our results. My husband and I suspected our eldest to test positive because he was put on an asthma plan when he was 2 years old. We had read somewhere that alpha-1 can often be misdiagnosed for asthma.

Our genetic testing results had arrived. My little family of 5 all tested positive for alpha-1. Phenotypes were also requested and except for Jasper, who is ZZ, the rest of us were confirmed MZ.

Ivy Adams with her brother Jasper. Credit: Charlotte Highfield, Little Rose Photography

This was news to us and news to our families. We knew Jasper’s paternal grandfather had alpha-1 and this only affected his lungs. Before Jaspers’s journey, we knew very little about the disease.

This then triggered questions. How did I get so far in life not knowing I had this condition? Was there a breakdown in a long-lost family communication? Or am I just unlucky? Or lucky compared to others who are suffering more?

Our eldest son Oscar is scheduled to have a lung test soon because he is on an asthma plan.

If it wasn’t for Jasper’s diagnosis we may have not known that we were carriers of this condition. What we do know is that Jasper is a true blessing!

Our children will now grow up knowing about their genetics and will hopefully make smart choices to keep their bodies as healthy as possible.