I would like to repost this interview from last year. Today I am honored to welcome a special guest, a former classmate from Stamford High - A.J. Tesler. He has made a made a life for himself in Los Angeles with his wife Jenny and two children. Their daughter Maggie is living with Rett Syndrome, a rare genetic postnatal neurological disorder in the gray matter of the brain that affects almost exclusively girls. Today A.J. opens up about his experiences parenting and advocating for a child with Rett Syndrome, the daily struggles and the promises on the medical front. Since Maggie has lost her ability to speak, her father is her voice. To find out more about the condition and how you can help support the life-saving research, visit the following links:
MJN: In the world of stress management, there is that expression "new normal". Whenever a family member faces a serious illness, there is that moment when the initial shock has worn off and the designated caregivers have some sort of provisional plan of action. With Rett Syndrome, is there such thing as "new normal", or is that concept being constantly redefined as the illness progresses?
AJT: I think with Rett Syndrome that new normal is constantly being redefined. That's possibly the hardest thing of coping with this particular diagnosis. You spend the first two years looking for answers and then you watch as your daughter loses ability after ability. Then just as she exits the regression phase and you accept that she won't lose any more, other symptoms start to crop up. In a few years we're likely to start experiencing seizures. After that her body is likely to tighten on her and she'll experience more movement difficulties. Right now, for example, we're dealing with a common Rett symptom of - night waking. She'll get up at 2 in the morning and won't go back to sleep. What compounds it is the non-verbal aspect of Rett. Since she can't tell us what's wrong, we don't know if she's waking because something's bothering her, or if she's just waking because of Rett Syndrome. That's frustrating for us, but it's got to be more frustrating for her.
MJN: I remember you being very vocal, articulate and outgoing. It sounds like you've done well for yourself professionally. I wasn't surprised to hear that you became a film producer. You have the skills and the knowledge to advocate for your daughter and other girls who have the same condition. What about those parents who for some reason are hesitant or unable to share their experiences with the world?
AJT: I think the greatest gift I can give to my daughter is to advocate on her behalf. She can't talk, she has no voice, so I have to be her voice. For me, I can't imagine going about this in any other way. For so many, just staying afloat is all that they can do, though and I understand that. Therapies, adaptive equipment, advocacy are all expensive and all anyone wants is to be able to provide the best life they possibly can for their kids. It does frustrate me at times, though. With over 200,000 families coping with Rett Syndrome, if everyone of them gave $1000 to research, instead of turning inward, we would be that much closer to a cure.
MJN: Are there any establishments in place that provide daytime care for children with this condition to enable both parents to maintain some semblance of professional life? 'm thinking of a licensed institution where children like Maggie can get specialized care? Is that something you would like to see one day?
AJT: The local regional center provides respite care and there are special needs programs we can send her to when she's school age. Though once she ages out of school programs get very limited. In any case, with this particular condition, many families find the state sponsored care is less than ideal and one parent ends up staying home. Plus, this diagnosis comes with it the added pressure of "use it or lose it" which is to say if she's not constantly using a particular skill it is possible she will lose it. The fear of continued regression adds the pressure on the family to pick up where state sponsored programs fall short, despite the laws that exist to protect the disabled. I'd love to see a therapy center someday that houses all the various disciplines under one roof and can cater to kids and adults and someday I may even open one. But for now, the private therapy and school programs will suffice for Maggie's day time care.
MJN: In one of your last posts you mentioned a new drug that was recently approved to treat the syndrome. You mentioned that it was not by any means a miracle drug. Let's talk about the best case scenario. What's the best one can expect from the drug? Are we talking about halting the progression of the disease, or actually reversing some of the damage?
AJT: In 2007 Dr. Adrian Bird proved that the disease was reversible in mice. When he treated mice with Rett Syndrome they soon after stopped showing any signs of the disease. Since then there have been very few clinical trials, since funding for research has been limited. Trofenitide seems like a very promising treatment, but it's not yet FDA approved. The trial they did was for 30 days and in those 30 days it was proven efficient in the targeted outcome measures. That's at least the official response. From a family perspective, looking at the results, it seems like it helped ameliorate many of the symptoms. But, it's not like a girl with Rett who takes it is going to jump out of her wheelchair, or immediately start reciting Shakespeare. Steve Kaminsky, who is the science officer for Rettsyndrome.org, has said "we can fix the biology, but then we'll have to fix the neurology." Which is to say at some point we'll be able to make her body work, but without extensive therapy, her body won't know how to work. All that said, you asked what the best case scenario is - best case is she gains greater control of her hands, she learns to focus her energies, even if just slightly, she is able to make her mouth work for long enough to let us know when something hurts. Best case is it staves off any more symptoms from affecting her for long enough for the scientists to find a real cure that will fully reverse Rett's effects. Most likely scenario is it helps a little, but there will need to be some yet to be discovered combination of drugs that will allow her to lead a more typical, independent life for her.
MJN: I'm sure you've encountered your share of well-meaning people who asked you rather tactless questions. Recently I was talking to a friend whose son has muscular dystrophy. He said that one well-meaning individual asked him, "Why don't you have more kids? Maybe the next one will be normal, and you'll finally know what it's like to parent a normal child." My jaw dropped. People are so quick to provide unsolicited feedback. Can you share some of the things one should never say to a parent in your situation?
AJT: This is tough because not that long ago I was on the other side of the conversation and I can also see how your friend was taken aback by that comment. The idea that your kid isn't "normal" is hard to swallow, and really, Maggie's normal to us. I know the word 'retarded' offends me more now than it did before diagnosis, but I'm not easily offended. I think the most frustrating thing that happens, though, is when people ask questions about her in front of her. "How do you know what she wants?" I ask her.