Thursday, July 30, 2009

Genetic Testing Results

Jake and Manny's test results both came back normal. This means that they have normal genetic structure, with no deleted or duplicated chromasomes. That, of course, rules out Phelan-McDermid syndrome. It does not rule out NF1 and the diagnosis for that still stands for Manny.

Should Dr. Reisner (neurosurgeon) decide that he wants a gene test for Manny for NF1, for instance if it would affect the management of his case, then she said she can certainly do that, but for now we are relying on a clinical diagnosis. I will talk to Dr. Reisner about that Tuesday.

So for now we are attributing Manny's global delays to NF1, since some children do have severe delays, its just less common. I guess somebody has to be on the "most severe" end of the spectrum. Sigh.

She wants to see Manny yearly, suggests eye exams for eye tumors every 6 months since most children with NF1 who get eye tumors get them around this age. Hmm.. thats about all I can remember at this point.

I am very pleased with the fact that the results were normal. It still leaves a lot of questions unanswered, but at this point, that is OK.

Manny has his hearing test at 10 AM in the morning.

Tuesday, July 21, 2009

Genetic Specialist

Today I took both boys to see Dr. Kathy Stephens at T.C. Thompsons in Chattanooga. She is a geneticist. It was a relatively simple appointment. After rousting the kids out of bed long before they wanted to be awake, we drove up, arrived at 7:15 AM and and waited in the waiting room for almost 3 hours. Jake was pretty fine with this.. Manny was a little harder to handle.

The Dr. asked a lot of questions, and examined both boys thoroughly from head to toe. After that she left for a little while and came back and we talked about each boy.

First Manny:
She gave him a definitive diagnosis for NF1. So there you have it, Manny has Neurofibromatosis Type 1. We could do the actual gene test for this, but there is no real reason for this. If it looks like a duck....

She said that 50% of children with NF1 have learning disabilities, and that it is very rare for children with NF1 to experience global developmental delays or mental retardation. She said that most people with NF1 lead normal lives. This all sounded very hopeful and I was feeling very relieved. Then.. I realized that there was a "but"...She mentioned that Manny is developmentally like a 1 year old, and on some things, even further behind. I knew this, and say it myself all of the time, but somehow it was much harder to hear from a medical professional. So Manny's symptoms are more severe than the average child with NF1 because he DOES have global developmental delays. She recommended a full chromosome test for Manny so that we can see if there is anything else going on genetically. The test will look for deletions or duplications in parts of genes.

Also, she will refer Manny to the Babies Can't wait program. This is something that I have planned to do, however was sort of half waiting until school started for Jake so that I would have some time to take Manny to all of the appointments that will be eminent once that ball starts rolling. She also pushed the issue that we need to get his hearing checked sooner rather than later.

On to Jake:
Like everyone else that sees Jake she confirms that he has lots of autistic symptoms, but that he talks a lot and interacts and such. So as usual you get the term "autistic-like". She doesn't share my suspicion at all that the children show signs of 22q13 deletion syndrome. In fact, she says that children with 22q13 almost always have almost no speech at all. However, because of family history of delays she recommended the same test for Jake.

We were sent down to the lab where we waited another hour to have blood drawn from both boys. Manny happily smiled at the technician (who was wonderful by the way) while she stuck both arms. I put Manny on my back and wrapped my entire body around Jake to keep him still while he screamed bloody murder while she took his sample. To my dismay we walked back out to a lab waiting room full of horrified looking 4 - 6 year olds that got to hear his wails.

On the way home I asked Steve to call Dr. Reisners office about the MRI results. He did, and the receptionist told him that Manny had MISSED an appointment on July 15th (the day of the MRI). It turns out that the hospital had instructions to send me straight over to Dr. Reisners office for interpretation of the MRI. I, however, was given the opposite instructions and told to go home and that it would take several days for the MRI to even REACH his office (because well, its across the parking lot right?) and a few more days for him to call me. (They also had instructions to do an MRI of only his spine, instead of spine and brain, which I had to argue with them about while holding a flailing unhappy taped-up baby). So now Dr. Reisner is out of the office for 2 weeks and we have an appointment to go BACK to Atlanta on August 4th, when we can finally know if they found anything on the MRI. I am only to assume that there is nothing life-altering to be found on the MRI, I suppose.

While I was in Chattanooga today Steve went to registration for Jake's school. We found out that Headstart classes start one full week after regular school, so we cancelled our family vacation for no reason.

That is all I can stand to write for today.

Wednesday, July 15, 2009

Another MRI -- no results yet

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Last night Manny and I left after dinner and stayed in Atlanta in a hotel. We had a nice time playing in the hotel room, hanging out at Publix and otherwise doing very little. I had a hard time getting him to sleep but he finally gave up around 10:45 PM.

I got up around 5:50 this morning and got everything packed up, woke up a very sleepy Manny, and headed to Scottish Rite hospital. I had to be at registration at 7 AM and that went smoothly. I was then sent to radiology where I filled out more paperwork and waited. A mom who was there with her son helped me navigate some of the paperwork. "You sound like you have experience with this," I said. She said that her son was 6 years old and had numerous MRIs. When she said that I noticed cafe au lait spots on his neck, as well as a bump under his shirt at his breastbone. "NF1?" I asked. She said yes. We didn't' get to talk any more as they were called back.

We didn't have to wait too long before we were sent to a "sedation" room. Manny was extremely unhappy about the blood pressure cuff, the O2 saturation sensor, and the gown. He was quietly fascinated, however, by the actual placing of the needle for the IV. After one vein blew in his left hand, it was on to the right hand. He stopped crying about the tourniquet long enough to sit in wide eyed silence while the actual sticking was done in both hands. Then horribleness ensued when they taped the little splint to his arm and taped his fingers to it. I was left for about 20 minutes with a hysterical thrashing baby. I pretty much used all of my strength to hold him down and to keep him from tearing the IV out with his teeth. I was actually grateful when they sedated him. I watched him go to sleep then left for a walk. About three hours later he was returned to the room on a stretcher and still sedated. He woke up just minutes later, groggily had some juice and potato chips, and we were sent home.

No results yet. The MRI will be sent to Dr. Reisner and we will have some results next week. Maybe. This was an MRI of the brain and spinal cord with contrast imaging.

I liked all of the staff at the hospital. Everyone was very friendly, something you don't find as much at "grown up" hospitals. I sat in the room with my earphones in playing with my iphone so that I couldn't hear the other disgruntled children. I don't know how the people who work there can stand it. Once again my trip to Children's, especially the neurosurgery area, makes me realize that, at least so far, we are lucky.

Jake stayed home with his dad and Granny. Steve's parents moved up here this past weekend and Elaine has already taken them off of my hands Tuesday morning so that I could work and stayed here last night so that Steve could go to work in Alpharetta this morning. She kept Jake until 4 PM today, which gave me a chance to straighten up the house and cook dinner when I got home. I am so amazingly grateful for her, because without her help in the past our only "guilt free" options were either for Steve to take a day off of work or for me to take Jake with me to the appointments. She has had so much fun with the kids that she is going to come get them tomorrow so that I can sew. I have my much anticipated debut at the Chattanooga Market on Sunday and her coming to help means that I can go to bed tonight and not stay up until 2 AM sewing. Yay! I don't think that she has spent a day without seeing the kids since she got here on Saturday. What an amazing blessing to our family to have this kind of love and support for us. Its so very good for the children too.

When I got home there was a mysterious box at the door. Some of those crazy Phishhookers have gone and sent us another care package. A giant box of crayons and coloring books and a toys-r-us gift certificate for the kids, yummy bath stuff for me, a copy of the Phish show in Asheville (the one we missed a few weeks ago.. isn't that cool?), and a six pack of rare out-of-season Bells Brewery Two Hearted Ale for Steve (I get one... too). Thanks so very very much for such a cool package. It came exactly at the right time.

Here's a video of Jake with his new crayons. Check out his new favorite word (I have NO idea who he learned THAT from) at the very end. Somehow when he obtains a habit it is already well-established before it begins... Oh well... I hope his teachers are understanding.

We are all happy to be back together as a family tonight. Jake is happily crayoning, Mom and Dad are going to have a beer, Manny is tired and laid back and playing in his squeaky shoes (a gift from me that I found in the hospital gift shop). Hopefully the news will come quickly and it will be good.

Wednesday, July 8, 2009

Did I take a break?

Yes, yes I did. I can't believe that I haven't blogged for almost a month. I guess I have been taking a break from everything....

In short, nothing has happened on the medical front with Manny at all. He is scheduled for an MRI in a couple of weeks, and I was assured by his doctors that it is alright to wait. I have managed to put my faith in them, and try not to worry myself stupid. Meanwhile I have been taking the boys on outings almost every day, well... at least until the past week, where I have been trying to work a lot.

I went to the various musical events with a lot on my mind, and have had a lot of experiences since I last wrote, and a combination of all of my experiences has left me somewhere in between a state of happy acceptance, and a state of intense angst, anger and despair. I alternate between these two extremes from moment to moment.

I can't believe how fast the summer has gone. I noticed only last week that Jake will be beginning school so early as August 7th. I was not prepared and scheduled our big family vacation the week after that, so we had to cancel. Maybe under different circumstances I would take him out of school, but he is already one of the "special kids" in the integrated classroom. I want him to make connections and be "integrated" as much as possible. A lot of people have trouble understanding why I would cancel our MUCH looked forward to vacation with a large group of friends for a silly first week of preschool, but things are different for us.


Manny continues to make progress and has learned a lot of sign language. His speech is pretty much nonexistent, and the words that he does use are almost unrecognizable to anyone but his parents. His motor skills are still that of a child about half his age. He is a sweet and funny kid with a lot of personality and a lot of frustrations. I was so amazingly grateful for the huge outpouring of love and prayers for him when we found out that he had a brain tumor, although I am almost embarrassed by the fact that his "brain tumor" seems to be "no big deal" in the short term, and that we received so much charity when really, its just going to be part of our lives, and we aren't facing an immediate devastating year(s) of surgery and treatment and recovery. Well.. that may come later..... To be honest, I was hoping for answers, for a cure, for surgery that would cut whatever was making my kid all messed up out of his head and make him "normal." That just isn't the case. He is a classic case of regressive mental illness and all we can do is wait and see how bad it will get, or how badly we overreacted....


Jake can delight me or make me insane.. sometimes in the same moment. I am so proud of his ability to navigate everyday life and adapt. His speech improves, though you have to listen SO hard to really understand him, and sometimes I'm the only person who has practiced hard at speaking his language. Even then, I have days where I just DO NOT get what he is saying. He speaks in riddles.

He has spontaneously begun the process of potty training, which is very surprising to me since he still seems to not care if he is wet. If I remind him every hour he will pee in the potty but if I forget he walks around wet. He still has not pooped in the potty which gets messy since I let him go around diaper free, if not for any other reason than to save laundry and money.

The Family:

Steve works hard all week and I stay home with the kids and try to work. His parents are moving up here this weekend and supposedly Steve's mom is going to start helping me with the kids a day or so per week. It would be a great help, but I'm not getting my hopes up yet. On the weekends we go play. Jake experienced his first kayaking trip on the Hiwassee river. Well, not really a whole trip, but I picked him up at the upper end of the camping area and we floated to the take-out. He was at ease and it was really cool. I can't wait to take him down the entire river... probably in the spring.

Me? Do you want the "I love my kids, I am so blessed" version or the "I feel like a prisoner and a slave to my situation and I'd do anything to get out of here" version, because I am capable of both. I feel a lot of pressure. I try to internalize a lot of my worry, but it just comes out in outbursts of yelling and anger. If I'm playing with my kids and family I feel like I need to be working and if I'm working I feel like I need to be spending time with my family. The cycle of guilt is really starting to get to me. I need to be doing more with Manny... getting him into early intervention and all, but I am so tired, and honestly, I wonder what good it will really do. Jake begins school in one month and maybe I can find some sort of balance then. I can be honest and say that I am really only happy when I escape from my kids for a few hours or when I am out and about WITH my family, playing and having fun. Everyday life, chores, work, therapy, doctors appointments, homemaking... I dread the days when that is all that is in store because there is just so much, and I never accomplish what I feel is expected of me.

I know very very well that I have no right to complain, and I am reminded of this fact constantly. My bitching is yet another source of guilt for me.

Tomorrow we are taking the kids to the Cherokee Farms Fiddlers convention. Its a 2 night music festival and I am going to be peddling my sewing in a booth. Steve will be in and out but will mostly be helping his parents move, so I'll be on my own part of the time with the booth and kids. I was really excited about challenging myself by keeping both kids both nights just to see how it went, but Steve says he is going to bring the teething Manny home at night and I really can't argue. I am disappointed but he is probably right.. I probably couldn't handle it. I'm nervous and excited about vending at a music festival after so many years and I've worked my tail off just to be able to afford the vending fee. Whether I lose money, make money or break even, I know that it will be a great experience for the kids, and that they'll come home exhausted and happy and begging to "go camper see the music!" again soon.