My Research Wish List

Dear Researchers,

I know that a lot of people are hoping for cure for MECP2 Duplication Syndrome and perhaps a “Cure” for Rett syndrome at the same time. I am not going to claim that I wouldn’t welcome this, it sounds really great, but I have to say that I think it also sounds pretty optimistic to think this will happen within my child’s lifetime or in lifetimes of any of the children or adults who currently have MECP2 Duplication Syndrome.

So, I want to say that I would be very happy to have some research help find some things that will just make living with MECP2 Duplication Syndrome a little easier, just in case the “cure” isn’t at hand. I will start my list with just two things that I think could be achievable”

1. The seizure disorder associated with MECP2 Duplication Syndrome appears to be somewhat unique. Perhaps there is a particular drug or medication regimen that is well suited to it. I would love to have something that would make the seizures a bit more manageable. While the case series descriptions indicate that about half of those with MECP2 Duplication Syndrome have seizures, I suspect that it is much closer to 95 or 100% for those who make it to adulthood since many of the 50% without seizures are still in their very early years and seizures are reported as usually starting at ages from late preschool to mid adolescence. So this would be a great help.

2. We know that children with MECP2 Duplication Syndrome have terrible problems with respiratory infections, but I am not so convinced that all the reasons for this are well understood or what can be done about this is well understood. I would love to have research help with this. In the case of our son, one thing that seemed to be very helpful was to treat all respiratory infections even very mild ones with a salbutamol nebulizer, and also to treat gastric reflux which appeared to be more of a problem than aspiration. Whether this would prove helpful for others is unclear. Any guidance that would help families with this would be greatly appreciated.

I am not ungrateful to those who are working toward things that might lead to cure or at least a treatment aimed at the central condition, but I hope that researchers will not get so lost in trying to find this “cure” that some of these day-to-day treatment and quality of life issues are forgotten. Perhaps some other families have some additional ideas of where families would really like some help from researchers. Please add your thoughts using the comments form below.

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2 responses to “My Research Wish List

  1. I really enjoyed reading your thoughts, Dick. I have to admit that I am on the “I want a cure” bandwagon and my husband is constantly reminding me that the word “cure” probably isn’t the best word…. but instead “treatment” is more likely.

    You brought up some excellent points. I, too, yearn for a treatment for the seizure disorder. I have honestly lost track of how many different seizure medicines that Braden has tried and yet he still has 3 to 4 seizures every single day.

    Regarding the respiratory infections, Braden currently has one and is on an antibiotic. Both Albuterol and Flovent are good medicines that he uses which do seem to help.

    Reflux is a big problem for Braden. He is currently on Zantac and two other motility medicines.

    Another possible treatment I am hoping for is a medicine that will help Braden be able to process information better. I remember when I met Dr. Huda Zoghbi and she gave an example of how Braden’s brain is functioning like an orchestra where nobody is listening to the conductor and everyone is playing their instruments at the same time and there is just a lot of chaos going on. I’m hoping for a medicine that will calm things down in Braden’s brain so he can learn and process things.

    There are so many things that I want for Braden and all these boys. My biggest problem is patience. I admit that I won’t be patient. I can’t. My son’s life is depending on it. My expectations may be high and perhaps unrealistic…. but I have hope. That’s how I get through each day.

    • There is nothing wrong with the “I-want-a-cure” bandwagon. If there is some fundamental fix that is found, I will be be among the first and most enthusiastic to stand up and salute. I just don’t want to get so focused on the “cure” that we don’t work on the things that makes life possible and makes life more tolerable until the cure comes along.

      Reflux has been a major problem for Dave, too, and omeprazole to control it which has helped.

      I don’t know about medications that will help with information processing, I will only say that we have found that Benzodiazepines made Dave much worse. Although we have been very cautious about stimulants, a few times when Dave has had drinks that contained caffeine, bit this focus and his seizures seemed to get better.

      We did find that Dave did much better with respiratory infections after we started using the nebulizer with him BUT we still need to use antibiotics at times. The infection issue has certainly improved for him as he got older, and I hope it does for Braden and all the others, too.

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