We had been potty training when Maggie started going through regression. We hadn’t made it to wearing panties but she was understanding the concept. After we were diagnosed, we kept sitting Maggie on the potty. With everything else happening with Rett Syndrome…we kept asking ourselves. Is it possible to potty train a kid with Rett Syndrome? In general, I don’t know, but for us, for Maggie we would try. For the last year we kept our potty training to just a routine of sitting on the potty, when she woke up, right before we left the house, when we got back home and before bed. Also before and after naps. In reality, we just wanted to have a little normalcy in her development and we had realized with Maggie – she is so strong willed, that we believe she can do anything. It will take her longer to learn it but isn’t that worth it? If she can do it we will push her to get there.
So for the past 2 years, Maggie has been “Going potty”. But in the past few months there was a shift, all of a sudden Maggie was getting really upset, sporadically throughout the day. We realized, she is upset when she pees in her pull up. So we talked with her teachers and decided it was time to fully “time train” Maggie. Every 30-40 minutes she goes to sit on the potty. At first this was daunting, but now if we don’t sit her on the potty in time or she has a random accident, she is really upset. You see, she gets it, she doesn’t want to pee in her pull up, she wants to go potty. It’s an awesome and frustrating feeling because more often than not, Maggie wants to tell us that she needs to potty, but doesn’t have the words.
Obviously, we are using all sorts of communication tools to teach her to communicate to us that she needs to go, such as a picture card or on her eye gaze or on push buttons around the house that are programmed to say “go potty”. We are getting there but it is a lot of work on our part and on her part. Recently a friend of ours started potty training her son, after a few weeks she mentioned he was fully trained. It felt like a punch in the gut because even though I’m glad for them, it really was hard to hear. Here we have been training Maggie for two years to “Go potty” and we are having success, but we aren’t there yet. And In those moments of being reminded where we are not, it is tough. Then I remember, Maggie is doing it, it’s taking us longer, it’s harder but as a family we are doing it. Milestones that are relatively easy for others, for us aren’t, so when we get there, it makes the progress so much better and we celebrate. We relish In our accomplishments because nothing about teaching Maggie to “go potty” is simple, there are so many layers, and strategies, plus setbacks before we reach our goal. But in reality, that is how all of our milestones feel. We are reaching them, but we fight to get there.
I should mention, Maggie wears panties during the day now at school and at home. We were on a good run with a couple of weeks with no accidents…yay! Then she got sick and we have had quite a few setbacks and accidents, but we will get there.
For the past 45 days, we have been waiting to hear if the FDA was going to approve NNZ-2566 with Orphan Drug Status. Everyday I (Jenny) have thought about it anxiously, even on days I tried not to think about it, I thought about it. I stalked the Rett family pages, I stalked parents that put their girls through the trial, I stalked Neuren (the pharmaceutical company). Sixty days doesn’t seem like a long time, unless you are waiting to hear about a drug that could possibly change the course of your daughter’s life for the better. During the past 45 days, 4 girls with Rett Syndrome passed away. So yes, it is extremely hard not to think about a drug that could change these girls lives and the lives of so many families. I felt so much anger towards Rett, with each girl that passed away, I kept thinking we are so close, but not close enough for so many. Most recently, the little girl who passed away was relatively healthy, went to bed and just didn’t wake up. It is a reality that we face and it is truly a nightmare. When people say to me, “Oh that is my worst nightmare”. No kidding! We are living it. This is why we want drugs to be approved by the FDA sooner than later, this is why we need clinical trials, this is why we fundraise to try to get there.
So yesterday I woke up and saw the first post that stated the NNZ-2566 drug, which we will now call Trofinetide, was give Orphan drug status approval. I cried. Happy tears, sad tears and out of relief. One step closer. With each step we are closer to a treatment and it really is amazing. We have only been on this Rett journey for 15 months. We have only really seen the effects of Rett Syndrome this past year. (Maggie had delays for about 6 months prior to diagnosis but not really any symptoms of Rett) And I can tell you, it is exhausting, stressful, and occasionally nightmarish. To have hope this early in our journey is fortunate. I have other parents tell me quite often how strong they think AJ and I are and that they admire us, which is very nice. Imagine how we feel towards those parents with older Rett girls, who have been fighting longer, harder and at the same time fundraising and putting their girls in trials in order to get here. They deserve this drug,Trofinetide.
We don’t really know what the next step is for Trofinetide. I’m pretty sure it is a Pediatric trial phase. But we do know, we are one step closer. For Rett families, progress feels amazing, because we have seen enough regression.
Here is a video from Neuren explaining how Trofinetide works…click here. Also at 7minutes 38 seconds they explain how it works on a molecular level for Rett. Do we know what symptoms improved? Not really. The families that are in the trial can’t tell us yet, but when we know, you’ll know.
Here is the press release regarding Trofinetide…click here
But seriously guys, this is a huge step in the right direction. Maggie could have a treatment in her childhood. My best guess is 2-3 years. I’m not a scientist or having any information, its just my guess. Let’s hope I’m the world’s best guesser.
For Maggie’s birthday in November, we wanted to get her a fish tank. The problem is presents are always difficult because it’s unlikely she gets excited about any present, and as a result, it’s hard for us to get excited about it. There are tons of stories of parents of kids with special needs crying in the toy aisle – it’s a reminder of how atypical your life really is. I don’t cry in the toy aisle, but I do look the other way.
Jenny doesn’t cry in the toy aisle, either, she just researches on the internet for sensory toys and appropriate games for her. So Maggie has a weighted turtle, a weighted star, weighted balls, a variety of swings for both the inside and outside, kinetic sand, and a few great games that she really likes to play. Mind you, it’s not Monopoly or Life, it’s Feed the Woozle and Pop The Pig. But she likes them, and it only took Jenny an extra few weeks to find them.
So it was with some consternation we decided to shell out the hefty price for a fish tank and all the required accoutrements – purple rocks, filter, heater, food, and etc. I was positive this was another present that would fall flat. Another thing Jenny and I were excited to give but that she wouldn’t show any excitement in receiving.
I’m slowly learning my lesson about her. I need to stop doubting. This was her at the store, helping us choose the fish she wanted.
And now, that it’s all set up, she’ll sit and stare at her fishies from her bed. She’ll stop and look at them when she’s near. And she gets happy to just watch them swim when we feed them in the monring.
A year before Maggie was diagnosed, there were no treatments for Rett Syndrome.
Today the Rett Syndrome Research Trust announced they were funding two additional clinical trials, bringing the total to about six. Six is a massive number in comparison to zero. It’s an impressive accomplishment for all of the scientists and families who have been pushing to get us to this point. That said, there’s no guarantee that 1 of these 6 will be effective treatment or will even clear FDA approval. Which we try not to focus on.
But, when the odds are a 1 in 10,000 chance your child will end up with Rett Syndrome, it seems like long odds that your child would ever experience such a thing. So when it happens, it seems a lot like bad luck. I look at these treatments as a 1 in 6 chance that one of these trials will prove effective.
I think all Rett families are owed a little luck and hopefully we can come out on the winning side of this 1 in 6 opportunity. Thank you to the Rett Syndrome Research Trust, as well as Rettsyndrome.org for continuing to fight to find the answers we all so desperately seek.
I’ve made way worse bets than 1 in 6 in my life. Every now and again, I’ve won those bets.
Here’s the link to the specifics if you want to get into the nitty gritty: