Summer update

In no particular order, some updates from our summer so far!

The initial genetic testing came back.  It was the kind of testing that looked for single letter changes in genes, not for larger deleted or duplicated portions of genes.  It showed that Janey didn't have Rett Syndrome, as the geneticists thought she might.  What did come up is a disorder that is hard to figure out the significance of, and which might or might not have anything to do with her autism.  It's a dominant genetic disorder that can cause seizures during sleep of the frontal lobe.  It has once in a while been associated with intellectual disabilities, but not usually to the extent that Janey has.  It can cause other sleep disorders, and she certainly does have very unusual sleep issues, but not perhaps the ones this causes.  The interesting thing is that the testing shows she inherited it from Tony.  Neither of them seem to have ever had seizures, during sleep or otherwise.  I was a bit overwhelmed at the time the report came in and I haven't researched this as much as I eventually will.  It's a very rare disorder---only about 100 families in the world, and we do plan to join a study about it.  But for now, it raises a lot more questions than it answers.

Summer school was...mixed.  The first 3 weeks were great.  Janey was in a sleepy mode, and therefore was more than well rested for school, and seemed to thrive.  But starting with week 4, she went into no sleep mode, sleeping very little each night if at all, and when she was awake, she wasn't in a good mood.  We started getting calls from school every day.  If you've ever been in that place, you know it's very tough waiting for that call, and hearing the latest about what has gone wrong.  I fell into a very low mood for a few days there, remembering all the toughest times.  Summer isn't my favorite time of year ever, and with Janey screaming and crying all day, then heading to school to scream and cry more so we got calls to go get her....it wasn't a good couple of weeks. She was also acting up on the bus to a big extent, and we got to hear about that every day as she got off the bus.  But by the last days of summer school, she had cheered up a bit and the very last day, I guess she was even good on the bus. 

At home, Janey loves to do three things most.  She likes car rides, showers and eating.  We do all we can to give her as much of those three things as we can, but there comes a time around 8 each night when she's had multiple car rides, multiple showers, and she's eaten as much as any person on earth needs to eat in a day (usually very healthy food, but even that has a limit).  When we tell her no more car rides, when we report that the shower is closed, when there is no more food being offered---well, you can guess it's not a happy time.  It can feel very frustrating to try so hard all day long to keep her happy, and then to have her get so angry when we finally just can't offer any more.  I know she isn't really intellectually capable of understanding why we are bothered by that, or that she isn't really being fair, but we are human beings with feelings too, and we can get worn down by her fury.

More and more, we realize Janey really craves, in addition to the three things mentioned above, time to herself, time alone.  And that is one thing we can't really give her, not fully.  When she gets home from a car ride, she likes to play in our long driveway.   And that's fine---as long as we are watching her. We live on a busy street in the city.   She isn't an eloper, and she has never gone into the street, but strangers pass by all day, and it just isn't safe for her to be alone out there. But she tries. She attempts to push us inside the house.  She says "You want to take a shower?", hoping to tempt us inside with what she herself would love.  She sometimes is even more direct, saying "Want to GO AWAY???"  It makes me so sad that she can't have that little thing she wants, to just be alone and play.  We tell her we are just going to be sitting there---we won't cramp her style, but of course that doesn't matter.  When she's in the house, she likes it best if she can be alone in the living room, and we do try to make that happen, but our apartment isn't huge and we do even inside have to keep a  backward eye on her.  I wish she was able to have the freedom she clearly wants.  But I don't see a solution here.

Janey will be 19 in a few days.  It's hard to believe.  In so many ways, she's a delight to us.  Even with my griping here, almost every day brings another great time with her, another funny moment or surprise joy.  Today, Tony took her for Chinese takeout, and they waited in the restaurant for her food.  When someone else's order was called, Janey eagerly jumped up to grab the bag, and Tony had to stop her from walking off with it.  Then she saw someone at a big table that looked like it had lots of room, and she went over to try to sit there.  Both these things were done with her infectious smile and joy in life, and people responded to that, by smiling and laughing and being kind.  There is something about Janey that brings that out, in so many people in so many ways.  It's what gets us through it all.  It's what gives us hope on tough days.  It's been a long, strange 19 years, but boy, does she keep life interesting.

The tasks of adulthood and a big surprise possibility

The last few months have felt both uneventful and hectic. The uneventful part is good. Janey has had a very good stretch of happy and easy behavior. She's loving school, enjoying home for the most part and generally being quite a delight. The hectic part---us trying to do what needs to be done for an adult with severe disabilities. We are working on getting legal guardianship for Janey and getting her Social Security income---both things that need to be done when or soon after an adult like Janey in the US turns 18.

Applying for Social Security was surprisingly easy, but that's all that's happened so far---applying. We applied I think last November, and haven't heard a single word since then. We were told it could take until May or so to hear, so we are waiting until then to inquire further, but I certainly hope eventually she is approved. She seems like a pretty straightforward case, but you just never know. We did an application mostly by phone, and did a long questionnaire about her abilities, and she has no income or savings, so we hope we did everything we needed to do and it's just a matter of time.

Guardianship---that's another kettle of fish, to be sure. What an incredibly long and hassle-filled process, which isn't over yet. In Massachusetts, getting guardianship involves getting statements from 3 different professionals---a doctor, a social worker and a psychiatrist. Supposedly the second two get done by the schools, and the first through our health plan. We started with the doctor, in November, and got the paperwork for the schools to do. We had thought there had already been a psych eval. done at the schools, as we were told there would be, but somehow it got lost in the shuffle due to a maternity leave. We eventually got it done, and got the social worker's report, but then realized a couple crucial things were missing. Because Janey takes a psychiatric medication, we needed to have her prescribing psychiatrist sign a form about that, and then there was a question involving whether she was capable of understanding the medication and its potential side effects. That was marked yes, which is certainly not the case.

So, with the pressure of time, as the guardianship papers need to be turned into the court within 6 months of the first signature, we had to get the form done and the question corrected. That involved lots of unanswered calls and waits. We had by that point gotten the help of a free legal service for low income people, but with all the delays, they closed our case. Once we finally got the information we needed, we did get them to reopen it and help us complete the endless forms, and we finally turned in the paper, just in time.

The next step was serving Janey with papers stating we were requesting guardianship of her. This seemed a bit useless to us. Janey doesn't understand anything about the process, and it seemed like someone spending two minutes with her could have told them anything they needed to know. However, we certainly do understand that in getting guardianship of a person, the person is giving up a lot of rights, and the process needs to be complete and thorough. So---we took the papers to serve to the house of my dear friend Maryellen, who has known Janey since birth (she was there when Janey was born!), we did our best to explain things to Janey (we basically told her that we were going to make sure we could always take care of her) and Maryellen handed the papers to Janey, officially serving her (it had to be a non-relative doing this) We videoed the big moment.

Now that the papers have been returned, we actually have a court date, next month. I am crossing my fingers that all goes smoothly and we get guardianship (or actually, Tony gets guardianship---it's recommended that just one parent becomes the guardian) Then there are just reports to be filed at regular intervals after that, etc... It's quite a complex deal.

During the very first phase of all this, when we talked to the developmental pediatrician who did the first form, she suggested we might want to take Janey to a geneticist, since there have been so many advances in genetic testing lately. That sounded like a good idea to us, and I set up the appointment, for which there was quite a wait.

We saw the genetic counselor and the geneticist on Friday. I was not expecting too much information from this visit. I figured by this point, we had covered most bases with Janey, and I had pretty much resigned myself to never getting much in terms of the "whys"---why did Janey regress so suddenly and badly? Why did she have such slow physical development early in life, which isn't usually an autism thing? Why does she have the few other odd things---the lack of periods, the mild scoliosis, the strange eyes rolled up high at times, the occasional severe hand wringing?

To my vast surprise, after a very thorough and well conducted history and physical exam, the two person medical team said they had a strong suspicion that Janey might actually have a genetic disorder---Rett Syndrome.

I had heard of Rett Syndrome. It's always listed as a variant of autism, one that only girls get. But all my reading about it made it sound far more severe than what Janey has. My understanding was that girls with Retts didn't ever walk or talk at all after they regressed, that they had no useful hand function due to hand wringing or other hand movements that never stopped. But the genetic counsellor told me that with the increased availability of genetic testing, it's been realized that there are many forms of Retts, including ones that sound a very lot like Janey. One of those is called the Zappella variant, or the Preserved Speech variant, and girls with that retain some speech and have much more use of their hands.

We agreed to have Janey tested---in fact, to try to get our health plans to cover testing of almost all genes that have been mapped, but that failing, to start with the Retts gene. It will take months to get the results (we haven't even yet gotten the testing kits that come in the mail)

I admit this all has flustered me a good bit. I am not sure why. It wouldn't change anything about Janey. It would perhaps relieve some of the guilt that I imagine you other mothers are familiar with, the feeling that I did something somehow to cause Janey's issues. Rett Syndrome is something that happens at conception. It isn't even passed down by parents. If she has it, her fate, her regression, so much of what she is, was determined the moment she was conceived. I am working, as several friends have advised me, on not trying to analyze why this is feeling like such a shock, a somewhat unwanted shock. But it is.

Of course, we don't know for sure Janey does have Rett Syndrome. If she does, I will go into full research mode, and I will share what I learn with all of you. It sounds like, with the recently discovered variants, that others reading this might also have a girl with Rett Syndrome, without knowing it. And I know I might be getting the facts or terms about it wrong---please forgive me if I am. This is extremely new to me.

The other hugely bizarre thing is that literally DAYS before we learned about the Rett Syndrome possibility, the first ever drug for the syndrome was approved. It's called Daybue. I have no idea if Janey would be a candidate for taking it with a variant, and I've avoided reading too much about it. It would be almost too much to believe that there could be an oral medication that would help Janey's functioning. I can't start thinking about that right now, but as I have so very many times over the years, I wanted to share this journey with all of you---partly, as always, for myself---because it helps to not take these journeys alone.

So---adulthood. Wow. It's been something so far. But at the core of it all is our Janey. She seems to be enjoying life. This past week was vacation week, and several times she brought us her backpack and said "Go on the school bus?" We love her love of school. She has fun with most of the same things she's had fun with for a while---car rides, eating everything and anything Daddy makes, watching Vampirina and Little Einsteins and Fancy Nancy and all the Toy Stories, listening to music, jumping and dancing---just being our (most of the time) joy. Janey, you are turning out to be one fine adult!