The Female Faces of Duchenne
The genetics of Duchenne can get a little involved, but it’s important to address when understanding common experiences of the women in our community. Carrier status is integral to quality of life in a multitude of ways.
From germline mosaicism, to asymptomatic carriers, manifesting carriers, women with Duchenne, sisters, mothers and grandmothers, the effects of Duchenne go far beyond the physical for our females. In fact, anxiety, guilt, blame and exhaustion frequently keep close company with our women of Duchenne.
Genetics – A Brief Overview
About ⅓ of the cases of DMD are spontaneous mutations in the child himself (or herself). In the remaining ⅔ of the occurrences of Duchenne, the mutation is inherited from the mother.
DMD symptoms are typically most severe in males. The Duchenne mutation is found on the X chromosome. Since the male gender has only one X chromosome, they don’t have a second X chromosome to help out with the work the mutated X is unable to do. Females, however, do have a second X chromosome to help, so symptoms tend to be milder.
Just like males with DMD, there’s a spectrum of symptoms for women affected by DMD, largely driven by X inactivation, also called lyonization. Lyonization causes Duchenne symptoms for the female to range from asymptomatic to presenting like a male with Duchenne.
And just like for our males, Duchenne is far more than “just a muscle disease” for females, too.
The Spectrum of Carriers
Symptomatic carriers simply aren’t as rare as once thought. We know now that many carriers exhibit muscle weakness, cardiac complications and even psychosocial challenges similar to males with Duchenne. These DMD symptoms are definitely not “just in their heads.”
Unfortunately, from the time they are girls, to teens, to adults, there are just so many roadblocks for the women in our community.
Beyond simply the physical symptoms, our manifesting carriers face incredible challenges. There’s the struggle to even get diagnosed, the struggle to get the meds they need, the decisions about family planning, the inability to participate in drug trials, and so many more.
Carriers have to fight and fight hard. They typically manage not just their son’s Duchenne care, but their own care also. The constant advocacy is exhausting.
Not Just a Muscle Disease…
For Females, Too
While there is minimal research about the spectrum of behaviors for women with DMD, the little research we do have suggests that – just like the males – the carriers’ nervous systems are also affected, making them prone to anxiety and agitation.
Multiple disregulated nervous systems can quickly escalate conflicts at home. Home life can then get even more complicated if more than one son has Duchenne or if any daughters in the household are carriers.
Even apart from the physiology of Duchenne, mental health for carriers tends to be affected as well. Elements of guilt and blame frequently shadow the carrier. These, in turn, are often reinforced by floundering marriage dynamics.
As if all that wasn’t enough, carrier grandmothers often carry guilt and blame as well, complicating extended family dynamics even more and sometimes even shrinking the support network for the carrier herself.
Women with Duchenne
Unfortunately, there’s not a lot to say about the women who actually have Duchenne, mostly because not a lot is actually known.
Duchenne usually affects males but occasionally a female is diagnosed with DMD. It’s exceedingly rare but it does happen. Current statistics say a woman with Duchenne is 1 in 50 million.
One can assume many similarities between the genders, but the female body is clearly different from the male body. Our women with Duchenne need more scientific data and more support, too.
Our community has come far in understanding the experiences of carriers and Duchenne. We still have quite a ways to go.
Together as a community, we can do it. Sharing our Duchenne carrier stories will help.
More to Consider…