It was a long time ago that I sat in the exam room and received the diagnosis. My boys had Duchenne. The diagnosis was followed by a series of questions about my family history, the doctor assuming that somewhere along the line, there was another boy long ago. In my case, there was no history. None. I asked every living member of my mother’s family what they knew, if there was someone who had an unnamed ‘problem’, someone who was weak, or a child who died young from an unnamed illness. One of my cousins talked about my "crazy Uncle Harry” who fell off the roof, but it hardly fit the picture I was looking for. I had a brother Jack, who died young, at the age of 42. A heart attack after jogging. He was my closest friend and I wondered if he might have had a mild form of Duchenne – decent muscle strength, but severe cardiomyopathy. It was always a question.

I guess it would have been easier to simply test my mother, but she had her own issues with the diagnosis. Catholic guilt. She had the sense that a god would punish her for past deeds and I did not want to create additional burden for her. I left it alone, an open wound. For years, I wondered. In retrospect, I wonder if I just wanted to be able to point the finger at someone else. I didn’t want to be the first carrier, the de novo mutation in my family. It seemed so unfair and it felt like I did something wrong somehow. OK, intellectually, I realize, spontaneous mutations occur frequently. The dystrophin gene is particularly susceptible based on its large size. Eric Hoffman suggests 1:10,000 egg and sperm cells carry the mutation as a new event. Random. Right, but emotionally it still hurts. Motherhood and guilt.

Just before the FACES meeting in Colorado, we met with Ivy Scherbarth and Angela Knight. It is always a question. Are you a carrier?. We discussed and compared carrier vs non carrier. Ivy had tears in her eyes as she had looked back through her family, tracing what must have been Duchenne generations back. Angela, not a carrier, said that either way, having a child diagnosed with a genetic disease is accompanied by guilt. I think she’s right. There is no way and no need to compare the feelings. Mom’s feel responsible. But there are more questions and strings attached to the word “Carrier” and the word stings somehow, sometimes feels like an indictment, with questions about prior knowledge, muscle weakness and concerns about the risk heart disease.

Carriers are working on two dystrophin genes, one carrying the mutation and one without. And we are hopeful that our cells opt to use the “good” gene, the gene that does not carry the mutation, producing normal quantities of dystrophin in every muscle and tissue of our bodies. But sometimes it does not work that way. When moms talk about this openly, some share stories of muscle cramps, weakness, fatigue. One mom recently mentioned she had a weak handshake and her doctor thought it was characteristic of a carrier. That sounds a little over the top to me as handshakes are personal, dictated by much more than muscle strength. I think the answer may be somewhere in the middle. Some moms have weakness ranging from mild to severe. These moms are referred to as ‘manifesting carriers’, their cells opting to utilize the genetic recipe for dystrophin that is inaccurate, incomplete. This is referred to as X-linked inactivation, where the cells essentially turn off the ‘good’ gene with the accurate recipe for dystrophin. And, depending on the degree of the X-linked inactivation, there will be weakness, from cramping to weakness to loss of function, sometimes severe.

Carrier moms also need to take care of their heart. Statistics suggest that 10% of female carriers are at risk. I’m not sure where that statistic comes from. I have seen some papers suggesting the risk is greater. To be honest, I think the statistic is not important as the fact that we need to take care of ourselves. As moms, we often ignore our health to take care of our family. How we feel is last on our list as long as we are getting out of bed and managing to get through the day. I think all women need to pay attention to their heart. Heart disease is common in women and it is essential that we keep our hearts beating strong for ourselves and for everyone who depends on us. Carrier or not – take care of your heart.

And girls with Duchenne. If a young man with Duchenne married a carrier of Duchenne, it is possible that they could have a daughter with Duchenne. I would guess this is indeed very rare. But it could happen. For the most part, girls with Duchenne have X-linked inactivation, where the cells turn off the normal or ‘good’ dystrophin gene. Depending on the degree of this X-linked inactivation, their progression could be the same as a boy with Duchenne. Because Duchenne affects boys 99% of the time, we talk about Duchenne in male terms. Every photo you see will show a boy. In the US, we are guessing around 10-15 girls have Duchenne. While Duchenne is not a club you want to join, I cannot imagine how it feels to be in the club but feel that you are standing in the back of the crowd, unnoticed.

I think this is a discussion we need to have – Carriers, manifesting carriers, girls with Duchenne. If you have any ideas about this, please let me know. You can always email me at Pat@parentprojectmd.org.

And to end my own personal story. I did have my mother tested just last year, assuming in my heart that she would be a carrier as well. She was not.

My father’s company manufactured Doctor bags, the old time doctor bags you may have seen in films. To this day, they are called “Schell bags”. Every Sunday, I would ride with him into town, to the factory (Schell Leather Goods) where he would light the glue pots, so that by Monday, when the men working in the factory arrived, the glue would have reached the appropriate temperature for the leather to adhere to the wood frame. I remember a strange sweet smell wafting through the plant after a few minutes. In conversations with other carriers, some mentioned that their fathers worked with chemicals – fertilizers, pesticides, stuff.

I’ll always wonder. It’s human nature.

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Comment by Veronica E. on February 10, 2010 at 10:01am
Just wanted to add that I'm so appreciative that I have this forum to talk about my feelings. I can talk these things over with friends and family til I'm blue in the face, but it's helpful to know there are folks here that can related to what I'm going through 100 percent!
Comment by Veronica E. on February 10, 2010 at 9:52am
Oh, Pat, I didn't mean to imply that your blog or responses to the blog were judgemental at all. It's just something I've been feeling lately, and your blog about issues involving carriers seemed to be a good place to express my feelings. Truth be told, I think my concern about people judging me may be more about my own worries and thoughts about my decisions than anything else. In dark moods, I worry that Max will one day be angry with me for bringing him into the world. I certainly hope and pray that he will be happy and thankful to be on this earth, but it's definately something that worries me. Thanks for your kind words and reassurance!

Staff
Comment by Pat Furlong on February 9, 2010 at 10:31pm
Hi Veronica, My blog post was simply my story as it relates to being a carrier. Nothing more. All of us make decisions based on the information we have at any given time or where our head/heart is at the time.

To this day I remember the exact words of the neurologist during that first visit with Chris and Patrick. He said 'you should have known you were a carrier after Chris and you could have aborted the second child". Patrick and Chris were with me and while they were really young and probably did not understand the words, I hated this doctor. He had no right to say anything and what he said was unforgiveable. I grabbed him by the tie and said 'if anyone here does not deserve to live, it is you'. OK, so that comment was out of line as well, but I could not control my anger. You can imagine, that was the end of the visit and the end of any contact with this particular doctor. I will always be thankful I did not know as Chris and Patrick are two of the best gifts of my life. I did not have them long enough, but I will be forever grateful that they are my sons.

I am hopeful to have grandchildren one day. My daughters are at risk to be carriers. They will make choices that are their own and if I am so lucky to see this day, I will welcome their children with open arms.

This is not about judging. This is about talking, about understanding each other, and about friendship

Warm regards,
Pat
Comment by Veronica E. on February 9, 2010 at 9:30pm
I assume that there are others, on this board or off, who are like me: I had a family history and knew there was a chance I could be a carrier but decided to have biological children, conceived "naturally", anyway. I didn't actually find out I was a carrier until I was about 18 weeks pregnant. I tested, assuming I was probably not a carrier, so I wouldn't have to worry anymore -- that didn't quite work out!

I feel a bit alone because of this fact. I read posts about guilt felt by carrier moms (with no family history, who weren't aware that they were carriers), and others comfort them by saying, "It's not your fault. You didn't know you were a carrier." Where does that leave people like me? Even though everyone is very kind and no one has ever insulted me in any way, I feel that people may judge me for my choice. But if all of the women in my family elected not to have children, my sweet mother, my beautiful sisters, my cousins, aunts and uncles and my own precious children would not be on this Earth, and that would be a true tragedy.
Comment by Joanna Johnson on February 8, 2010 at 8:43pm
Thank you as always, Pat for your insightful and informative blogs. A few things stood out to me with what you said. # 1, I think that Angela Knight said it best, carrier or not, as moms, you will always feel to some degree or another guilty and/or responsible. I am a carrier, no family history. My mother and 2 sisters were tested. All negative. Being the only one was accompanied by its own range of emotions: anger, why me? etc., etc. The feelings come and go, but they never go away completely. The second thing that stood out to me was the fact that we, as mothers put ourselves last. No matter how I try to change it, I am always the last priority- my health included. It's not good, but I can't seem to stop the cycle.

I do have a question. I went to a cardiologist 2 years ago. The doc had never dealt with anyone in my circumstance. I had an EKG and echocardiogram. All came back normal. In talking with Lee Sweeney last year, he mentioned that there is a specific thing that the cardiologist needs to look for that he may have overlooked. Are there any guidelines out there for carrier moms as far as what needs to be monitored?

Again, thanks for the post. Looking forward to seeing you in DC in a few weeks. -Joanna
Comment by Kimberly Hannan on February 8, 2010 at 3:32pm
My husband worked in a plant that manufactured spas--fiberglass, acetone, etc. was used and the smell was horrific. I couldn't stand being in the parking lot and he was immune to the smell from being around it all the time. Food for thought. I had our girls--two, my mother, and my sister tested in the early 90s after John was diagnosed. I needed to know and it somehow made me feel better knowing this may never happen to our family again--we got the all clear. I still wonder why. I know why. John was sent here to teach lessons to all he knew. I hope I was wise enough to learn them. Rest in Peace. John. I love you--Mom.
Comment by Tagni McRae on February 8, 2010 at 12:33pm
Thanks. I am a carrier with no family history, either. I wonder at what point we can get our daughters tested, especially if there's a risk of the X linked inactivation. My daughter is almost 2, but her gross motor skills seem to be normal. She's much more active than her brother was at that age.
Comment by Penny Pratt on February 8, 2010 at 11:46am
I am not a carrier but have a son with duchennes.. My worry is that I am afraid for my daughter. The doctors will not test her yet she is 12 and it is always on my mind...
Comment by Eileen DeLong on February 8, 2010 at 10:12am
Thank you for bring this up Pat. I am a manifesting carrier but until Dr.Wong confirmed that I thought I was a hypochondriac. It is really hard to put my need before my boys but how can I take care of them if I am not healthy. I wish my regular doctor understood more about my condition.

Staff
Comment by Pat Furlong on February 6, 2010 at 1:10pm
Janine, I guess that was it. My mother is 94 and I just wanted to know and particularly based on my brother's early death.

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