Monday, April 6, 2009

A relaxing weekend...and a thought.

We had a fun and relaxing weekend at the festival. Jake warmed everyone's hearts and yelled "HI!" to everyone that came within a few hundred yards. He ran around the place until well after dark and danced. "Wan go up front, wan go see music." He slept like a rock all night. Unfortunately Manny didn't. Steve was half sick and made plans to take the boys home around dinner time on Saturday night. I got to stay and hang out with some of the most special people in the world. I was surrounded by friends, and althought I missed my men, I enjoyed staying up until the wee hours dancing. It was a great release.

Thursday, after taking into consideration some of the things that Dr. Michaels talked about and pointed out about Manny and Jake, I started doing some online research. I'm not going to put a ton of time into this, only say that my boys and special needs members of Steve's family exhibit a vast majority of the symptoms of Phelan-McDermid Syndrome (also known as 22q13 Deletion Syndrome) Everything that I have managed to dig up has been dead-on, right down to the curved pinkies, loss of skills, deformed toenails, facial features, autism, Manny's sudden loss of skills and worsening muscle tone, and on and on. I don't have the energy to type my thoughts on this, however it would explain a lot. The genetic testing will either confirm or rule-out my fears.

Thursday, April 2, 2009

Doctor Appointment

Manny was in a great mood for his appointment today. I left Lacy with the job of getting Jake off of the bus and making him lunch. I don't know what I would have done if I would have had to take both there, its doable, but I'm sure things would have been less thorough since the wait-time to see Dr. Michaels specifically averages about two hours. He spends lots of time with his patients, so its worth it.

After filling out the CHAT list and other developmental checklists I played with a VERY happy Manny in the room. Pretty much before Dr. Michaels could get settled in the room I gave him the freaked-out mom speech that I had worked up in my brain to sound a lot better than it did. Dr. Michaels listened, observed Manny, and did an examination. He engaged Manny in the "blowing out the light" game and Manny played along and did some eye referencing with him, though none to me.

Dr. Michaels explained to me many times that over the years he has seen tens of thousands of children, and although he believes that Manny isn't in the "exact middle of average" on some things, he's surely not at the bottom of the charts on anything. "Somewhat below average muscle tone" and "Somewhat below average on some social interactions and speech" seemed to be his assessment. I expressed my extreme frustration at not having a "normal" child to compare him to, and since Jake has such uneven strengths and weaknesses, it is totally pointless to compare the two. He went through several of the points that I am concerned about and said, again, that while Manny isn't hanging out with the median of the children that he sees on some points, he definitely doesn't see these points as a worst case. He also totally validated my fears and said that, since Manny does have a sibling on the spectrum, that my concerns are very warranted and something to watch extremely closely. Jake was always "at the edge of normal" with meeting milestones.

His recommendations: First off he things we should pursue genetic testing (ding ding ding... I guessed right), both to make me stop feeling like he's a timebomb when it comes to NF1 (or to confirm the feeling?) and also because both children have had similar symptoms. He was VERY interested to learn that both Steve's brother and nephew were/are special needs children/adults. I don't know how that information has slipped by, maybe because our families are not in contact, but he felt like that was even more reason to pursue the testing. They will be making a referral appointment to the geneticist for both boys. Dr. Michaels also explained to me that there are more and more rare genetic diseases being identified every day, and that the geneticist may see more significance in symptoms shared by both boys, or anomalies such as the fact that they both have these weird flat thin "crumpled" looking toenails. I am satisfied with this suggestion.

He also recommended that I try to arrange some playdates with typical children his own age without Jake present. Jake has an odd way of speaking and acting, so he may not be the best model for typical behavior for Manny. I think that I can definitely arrange maybe a Monday playdate, even at my house, when Jake is at school. I am also thinking of finding Manny a "Mom's morning out" or similar program or private in-home daycare for a couple of mornings per week when Jake is at school. So I can look for opportunities to do that the next few months for sure.

Then he gave me the "you're a wonderful parent, doing a great job" speech that, although I guess I should enjoy or take heart in, I don't believe most of the time because I KNOW I could be doing more (no offense to the people who constantly tell me this.. I can't help that its hard to believe). I tried not to be rude shrugging off his praise. He tried to make eye contact with me (ugh) and said "No.. I see lots and lots of parents of special needs children, and you do a good job." When that didn't work he touched my shoulder and said "You do a good job. I mean it." What a nice doctor and a truly caring man. His "daddyness" was showing. I'm glad we found him and his wife (Cindy- OT).

I have to say that I feel better, as usual, now that I have a direction to take. I get the most unsettled and upset when I feel helpless and like there is nothing that I can do. I know that we don't KNOW any more than we did, but at least someone's thrown a bone in the high grass for me to go search for.

The camper is in the driveway and I have a big ole sack of fruit, cheese, crackers, snacks and homemade granola bars for us to munch on at "The Function". I'm looking forward to a few days of release for the family.

Wednesday, April 1, 2009

A day in the life...

Wow, that was the most negative thing I've ever read in my life. Why doesn't someone reel me in when I'm going down the wellbutrin path.

Today I got up around 6:45, I sewed my heart out to get a few orders, gifts and whatnot finished while my kids ate their breakfast. I swear that both of my children are going through growth spurts. With Manny its great! Maybe he'll grow out of 12 months cloths by the time he is two. Jake.. gosh.. Jake can be so funny. "Want celery, want oatmeal, want soup, want mac 'n cheese, lets cook mac 'n cheese, make cook cookies??" You get the stream of consciousness version. With Manny you just get a fussy baby that is only satisfied by eating. I have to get them OUT of the house, but then I have to pack a picnic. I don't want to even think about my grocery bill in 10 years.

But I digress... after sewing and making four breakfasts, (two for each child) "the poodle guy" showed up with his five dogs about 15 minutes before Lacy showed up to help me with the kids (bless you Lacy.). It took me two and a few to groom the five dogs and I basically marathoned it.. refused to touch my phones or check my email (left the iphone upstairs) until it was done... at eleven something I came upstairs.. sat a few minutes and rested at the computer. Manny had fallen asleep and as usual I felt guilty that Lacy was the person to put him down and not me or his Dad. I love my kids and wish I didn't feel so pulled in so many other directions and away from them sometimes.

I quickly departed to my sewing room where I finished two backpacks, brought them out, lint rollered them, took some quick BAD pictures of them to apologize about later and sent Lacy home after basically ignoring her complaints that she was sick because I didn't know what else to do.

I made myself some microwave noodles and a sliced avocado and the second I sat down with it the doorbell rang.. OH yes.. another dog.. I forgot. I took in the puppy after way-too-long-for-my-schedule-but-great-for-my-self-esteem discussion with the owner, who I adore but she invades my personal space something HORRIBLE. But hey, I'm used to that, and it was inevitable since I was wearing a very very happy baby on my back. I went back upstairs and ate about 1/3 of my noodles before I realized that both boys were just going to eat them for me, so I microwaved another noodle bowl to split between the two boys. I was drinking my tea when Jake brought me another noodle bowl. "Hungry.. YES PLEASE" he exclaimed. I started to wonder if someone was playing an april fools joke on me. The time was 12:20PM

I tied Manny to my back and had Jake go down the stairs with me so that I could start the dog. I washed the little gal, got her nice and almost dry, and put her in the ambient dryer to dry. I carried Jake up the stairs because he was hoping for a longer stay downstairs where he knows he can stim to his hearts content because Mommy is working. I changed diapers, sat down to eat my cold noodles and realized that I only had 40 minutes to finish the dog before pickup (oh.. and I had forgotten about the noon dog so I had planned to get to the post office by 2 PM to mail an "urgent" package and meet a friend at the playground). Jake walked into the room and said "I pooped." I changed him. I can do a final clip on a dog in 15 minutes.. so I ate my freakin noodles.

Dogs finished, kids dressed, we head to the post office and the park. Jake is so happy that he's at the park he can't stand it. Then April and Nick show up and he's even more happy. Jake loves Nick. Then Jake falls into a 4 inch deep water/mud puddle. He simply stands up.. begins to flap his arms wildly and robotic ally say "oh i wet, oh i wet.. oh oh ... i fell...i fell i fell dah mud puttle." He never cried. April and Nick were nice enough to secure Manny while I went to find Jake some hilariously mis-matched, too-small, ugly and out-of-season clothing to wear from my car. We stayed for another hour, but I had to get home to walk and water and dismiss the five poodles.

Other things happened.. gosh.. somewhere in there there was a Popsicle drama, some fabric laundry issues, label printing, a poor sick husband coming home (who at this point probably thinks "Oh dear lord woman, please just stop thinking, and if you MUST think.. please stop letting the thinking leak out of your mouth-hole"), I got a pedicure, and then the kids went to bed. The rest is a blur... I'm embracing the blur.

I'm not going to go into the whole "its hard to be a WAHM" diatribe, but I can surely confirm the feelings of guilt that many WAHMs and SAHMs have. You simply wish that you could focus on SOMETHING and do it right rather than feel like you are a "decent" mother, a "decent" wife, a "decent" business owner (and for some of us, a decent advocate and social therapist). Most of us know that we are brilliant strong women with the potential to do something amazing. However when pulled in a hundred directions, our brilliance is dimmed and we just become "OK" at a hundred different things. It is frustrating, devastating and a challenge to be overcome. I still have moments where I say "I'm gonna kick this world's ass, no matter what it throws at me." I'm looking for my strength. I'll find it.

An Update

Its been a month since I posted. My kids have managed to go without sickness for that entire month, save a few sniffles. During that month they have eaten us out of house and home, and between them and my two jobs, I'm absolutely nutty. Jake is talking more and more each day, and his comprehension is getting amazing. I can have him help me with things around the house and he seems to enjoy it. School seems to be doing him so much good, and the teachers are amazed at his recent ability to make up his own sentences (though a little wacky sometimes). At least its not "canned speech." I can't remember if I blogged about it before, but he will be entering an integrated program next year in the same building where he goes now. It will be 9 typical children and 7 special needs children, a regular teacher and a special ed teacher and two aids. He will get to ride the bus every day and will be at school from 8 until 1. I'm excited for him, though I will miss our mornings together. He is making progress, and I am hopeful for his future, though there are still things that he is very delayed or challenged in.

Manny has an appointment with Dr. Michaels tomorrow. It is his "18 month well-check" however it will actually be the first steps in the diagnostic process for Manny. Manny has had a month to recover from his illnesses and I do not like what I see at all. In a few months he has gone from "the edge of normal" to being even worse than Jake was at this age. At least Jake talked (labeled). Manny has two words that I know of: "GO!" which means "swing" and "bel" for belly. I worked hard with him to get him to point to body parts, and over that past two weeks he has lost that as well. He is giving very limited eye contact and can barely walk a few steps without falling. His muscle tone is just horrible. This regression has to be one of the most heartbreaking things that I've ever endured. He is slipping away from me and there's nothing I can do about it.

I am not holding up well at this point and it is putting strain on everything else that I am trying to do. I am driving my husband insane, and just feel like I am underwater most of the time. I am mourning a "normal" child. I guess with Jake it was always in my heart that he was different. With Manny I had hope, heck I just "knew" that he was going to be OK. That he was going to grow up and help us make sure Jake was OK. Now I feel like Manny's case is going to be much more severe and it is making me insane. Some nights I just want to run screaming into the hospital saying "You have to do a full body MRI! He has tumors on his EVERYTHING, I just KNOW it." Ever since the mention of NF1 I am constantly convinced that he has a brain tumor, a liver tumor, that he's going deaf, that he's going blind.... it just goes on and on and it never stops. At the risk of sounding like an insane person ("sounding like"?) I am going to bring these things up to the Doctor tomorrow. He may suggest genetic testing and other tests for him. All of these things cost money, and that puts even more strain on the family.

After tomorrow we will be headed to the music festival and staying for three days and having fun. I guess I am lucky in that we are pretty good at handling our children in new settings, so I'm really hoping that it will be a few days of escape for us.