Getting Our Sea Legs Back…Gav Diagnosed With Alpha-1 Antitrypsin Disease

We have had two overwhelming experiences in the last couple of weeks and I guess we are just getting our sea legs back a bit. Gavin was just diagnosed with Alpha-1 antitrypsin deficiency (Alpha-1). It is a genetic disorder which may lead to the development of lung and/or liver disease or failure of either of the organs.

We are lucky that Gavin is most likely out of the liver failure zone, but it is very likely that he will develop emphysema somewhere in his thirties to fifties. There is no cure. There is nothing that we can do other than keep him away from smoke and smog.

Here is some information on the complicated process of inheriting the disorder and its different levels of severity from….

“Alpha-1 antitrypsin deficiency is an inherited condition caused by a defective gene on chromosome 14. Genes are the sequences of DNA carried in chromosomes in the nucleus of cells.

Over 70 different variants of alpha-1 antitrypsin have been identified. In laboratory tests normal alpha-1 antitrypsin is labelled M.

Everyone inherits two copies of chromosome 14 and a normal person is designated PiMM. Pi stands for protease inhibitor. The two most important abnormal variants are called S and Z. Both result from mutations of the alpha-1 antitrypsin gene.

Individuals may have two of these abnormal genes labeled PiSS or PiZZ, or one of each PiSZ. This is called being homozygous. Or they may have one abnormal and one normal gene, eg PiMS or PiMZ . This heterozygous state makes you a carrier of the disease.

Alpha-1 antitrypsin genes are co-dominant, so each gene of the pair makes 50 per cent of the alpha-1 antitrypsin produced. But an abnormal PiZ gene only makes about 10 per cent of the alpha-1 antitrypsin produced by a normal PiM gene. PiZZ people have only 15-20 per cent of normal blood alpha-1 antitrypsin levels, which is linked to severe disease. People with one PiZ gene and one PiM gene, PiMZ, have alpha-1 antitrypsin levels around 60 per cent of normal (50 per cent from M and 10 per cent from Z). This is usually enough to prevent disease.

People with both PiS genes (PiSS) are less severely affected, with alpha-1 antitrypsin levels 60-70 per cent of normal. This can cause lung complications but not usually liver disease…”

There are like four different levels of severity of this disorder, and Gav is in the second tier. There is very little information on this level of the disorder, because there are only a handful of people in the nation with this kind of phenotype.

Jay and I have been phenotype tested and we are both carriers of the disease. Apparently we had a one in four chance of passing this along to our children. It’s hard to think that on top of his kidney failure we gave him something else too. This is the reason for Gav’s elevated liver enzymes.

Mayo Clinic is a leading center for treatment of and research on Alpha-1 antitrypsin (AAT) deficiency. To find out more, please visit Mayo’s site.

The second experience was overwhelming, but for a much better reason. We were blessed to have gone on a mini family get away to Yogi Bears/Three Bears Lodge in Warrens, WI (beautiful fun facility), and meet other families that are living with children with kidney disease and lupus. It was so amazing to look around and see other kids living through this disease.

It was the first time when we felt like we weren’t in it all alone. It was the first place where medical terms, ideas, frustrations, encouragement was exchanged with real human people who got it without even having to say a word. I have found out that no one really understands anything in life unless they have gone through it themselves. And disease, although you try to tie it up in ribbons and put it into a nice pretty box, always plays the main role in your life. You’re afraid to leave and go too far away from doctors. Your child gets a cold that everyone else is able to beat in three days and it takes us a month to get better with med changes, diet restrictions, twice a week lab draws, creatine bumps.

Since Gav was born, we’ve experienced just 10 days free from a hospital. Transplant has been phenomenal, Gav is doing amazing, but life has not changed.

Gav is obsessed with sports right now, baseball and basketball in particular. Thanks to Camp Sunshine he loves swimming with all his heart! He always wants to “hoop it” or is wearing his glove throwing the ball at like 45mph (he’s got quite the arm). He’s developed quite the personality and is using three word sentences (mostly commands to me) and is in love with yogurt and pizza. He frequently is yelling for food or snacks. I know his unending appetite is caused by the steroids, but if he’s in the house he wants to be eating. His creatine level went up from .3 to .4 (still really good numbers) so they think it’s reflective of this month long tummy flu. But we are getting an ultrasound to look into it.

Lulu is about to be done with 4K and the summer is almost here. She has a few simple requests this summer. She wants to build a water park at her house and wants to swim with dolphins, but nothing unattainable. She has become intrigued with trying to tie her shoes and learning about animals and planets.

Jay is coaching her t-ball team and she is fascinated with being on a team. She is more interested in the upcoming snack schedule than the batting rotation. She is avid that she will be the first female Cubbie (unless she is wearing her Brewer socks, that one day every couple of weeks, she cheers for the Brewers to support her mom’s team).

Jay and I are working on getting back into the swing of things. We tried living life in a bubble, but found out that it just doesn’t work like that. Life and germs hit ya wherever you may be, so we are learning to live around it so to speak. It has been a little tough because we’ve done like two things and Gav has gotten pretty sick, but he will get stronger and so will we. We’ve started a list of things that we want to accomplish to push us to make time for life. Even though this whole thing can be exhausting, we are not going to let it win!

Hope this finds you all well and looking forward to eighty degree weather (FINALLY!)


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