I had Blake's parent teacher conferences recently. We were very happy to hear he has improved in all areas! From January to September of this year his fine motor score went from 37.9% to 71.2% (a HUGE jump!) gross motor went from 62.7 to 78.1, cognitive went from 38.8 to 50, social-communication went from 29.3 to 48.9, and social went from 68 to 80. They are not expected to be at or near 100% until they are three, so we have some time to work on things. I don't expect him to get there for everything (for example social-communication or cognitive) mainly because with his speech delay it will always be hard for him to communicate or for us to be sure of exactly how much he understands. But I know he will do great in all other areas.

We also talked about special needs preschool. He will age-out of the Early On program when he turns 3, so in the fall he will be going to "real" school. There are a few different preschool programs available and they will test him again at the end of the year to determine which one fits him best.

I can't believe how much has happened in the past 1 1/2 years! It seems like yesterday he was 9 months old and his doctor was telling me something wasn't right and my world was crumbling around me...something was wrong with my baby and nobody knew what. And then all the therapy and tests, and then finally a diagnosis, an actual answer. I was so scared for him. And now he'll be going to preschool in the fall! My little weak baby who had to go to therapy for months to learn how to even stand up is now walking and running and eating-and soon going to school. Words can't describe how that makes me feel. He is doing so well. One year ago today I never would have thought he would have come this far. There is no limit to what he can do. He is, in a word, amazing. I am so lucky to be his mom.

Yesterday I noticed Blake had been awfully quiet.

I went looking and found him in the bathroom, covered in toilet water. Then I noticed he had quite the collection IN the toilet. This is what he put in there...
1. My shampoo
2. His shampoo
3. My facewash
4. Nick's deodorant
5. Body wash
6. Chapstick
7. 2 razors, and...
8. A calculator. A calculator?!

Then I thought to myself, I am so lucky. That was such a "normal" 2 year old thing to do. We are so fortunate that he is able to do the naughty things that little kids are supposed to do. Every day he seems less and less impaired and more and more capable. Every day he surprises us, in one way or another!

Great news from Blake's dr. His kidneys are fine. So far all three tests we've had have come back normal! I am hopeful that he will be one of the few kids that don't have any health issues related to PTLS.

He was so funny last night. We had the music on and he was walking around the house dancing, but kind of half-dancing and half-walking. I told his therapists once sometimes he reminds me of that episode of Seinfeld where Elaine thinks she can dance, but just looks like she's having some sort of fit? LOL. No really, he actually does have rhythm; he's just not able to coordinate all his movements yet. I will not be surprised if he grows up to be a break dancer or something. He is a dancing machine.

Blake had his renal ultrasound yesterday. We were there early and they got us in right away. It only took about 15 minutes. Blakie was good during the first part because he got to lay on his tummy facing me, but when he had to lay on his back he cried and cried and wiggled until they were done. Good thing it was a short test. We will get results in 2-5 days. I am optimistic that this test will come back normal and we will be 3 for 3 (heart, hearing and kidneys.) Our next appt. is opthalmology in January, so we will have a much needed break until then.

Other than that he is doing great. He is getting used to his SMO's (orthotics) although we need to get them on quickly or he gets irritated. We are working on climbing in physical therapy and he is doing a lot better with steps, curbs, etc. We have been having trouble with insurance so he has not had any feeding therapy for the past few months, but he is still doing well with his eating. Although he is still very delayed with speech he has started saying 'yeah'. Every time we ask him something the answer is "YEAH!" It's really cute. We are still fighting to get him speech therapy. Even though this is his biggest obstacle and therapy is desperately needed, it is one of those things that are rarely covered. The sad reality is that he may have to wait until he is 3 and in the school system before he gets any speech.

A friend came in to work tonight with her daughter, who is 5 days older than Blake. She was speaking full sentences and telling me how big she was and eating grilled chicken. It was really hard for me to see. I am so used to Blake's delays that it has become our new "normal". Just when I start to think that all 2 year olds are where Blake is developmentally, I'll see a typical child running or eating steak or singing, and it is like someone slapped me. I think, why us? Why our Blakie? It's not fair... And then I feel guilty for feeling like that. Blake has come so far and I am so proud of him, but he has so far to go. Why does it have to be so hard for him and so easy for others?

Until tonight I thought that I had accepted all this; that I was at peace with this new "normal." I guess it will take a lot longer than I thought it would for my heart to heal. I'm going to go tuck him in now, and rub his head like I always do, and thank God that we have him. And tomorrow when he gets up he'll smile at me and make me feel better, like he always does.

We have WONDERFUL news. Blake has a perfectly normal heart!

We weren't sure at first if we would be able to do the test today, due to the fact that Blake was completely freaked out by the whole thing and was really upset. But we had an excellent tech and an excellent doctor so they were able to get what they needed.

He will need to repeat the echo every couple years to monitor his aortic root. That can dilate at some point in the future; but for now it is normal.

Dr. Grifka was very familiar with the defects associated with Potocki-Lupski syndrome and knew exactly what to look for. He even did his fellowship with Dr. Lupski and had nothing but good things to say about TCH.

We are very relieved and feel very blessed that Blakie seems to keep beating the odds. He is an amazing boy and I can't wait to see what the future holds for him.

Tomorrow is our appointment with cardiology.

In the morning we are going to find out if Blake has a normal heart or if there is something wrong. Now that it is here I am very anxious. I feel that God put a doctor from TCH in our path for a reason; I just don't know what it is.

I have never been more scared in my entire life--and it is the kind of fear no parent should ever have to feel. I am scared for my little boy.

I have been doing a lot of thinking about the clinical study at TCH. I have weighed the pros and cons over and over in my head, and I just don't feel that now is the right time to go.

We would be fitting months of testing in to one week, and I think that it would be too much for Blake right now. It would be so scary and stressful and overwhelming for him. Most of the tests will have to be repeated every couple years anyway; by that time he will be 3 or 4 and he will be able to understand much more of what is happening. It will also be easier for them to evaluate his speech/cognitive abilities at that point.

I have really struggled with this decision but I feel comfortable that this is the right choice. We are hoping that we will be able to make the PTLS conference in June 2009, where we will have the opportunity to meet other PTLS families and learn much more about this condition.

Now if you'll excuse me I have to pick up all the Kleenex that Blakie just emptied all over the floor.

We went today to have Blake fitted for orthotics. The dr feels that the UCBL' s (which are the braces that would be concealed in his shoes) won't give his bones enough support, so we are going to go with SMO's which are ankle height.

When they first told me he would have to lay on his tummy for 20 minutes while they put casts on his feet I didn't think it would go well. He is very active and I was doubtful he would stay still, but he did surprisingly well! I came prepared with cars, books, graham crackers and bubbles, and in addition to that I blew up a latex glove and made him a balloon.

By the time he really started to get annoyed they were all done and ready to cut the casts off. He was a very big boy!

It will take 2-3 weeks to get them back. I hope he doesn't notice them too much. They are supposedly pretty comfortable so he should get used to them quickly. I'll keep you all updated on how he's doing.

Also, I got a call from another PTLS mom yesterday. She also lives in Michigan, about two hours away. We talked for about an hour and hope to be able to meet someday soon. Her son is 9, and has had serious heart problems, probably one of the most serious of all the kids so far. If I'm remembering correctly he has had 3 heart surgeries and was very close to not surviving on numerous occasions. He is dependent on a pacemaker and at some point will most likely need a transplant. He also has some major issues with impulse control and has to be watched very closely or he will unlock all 3 locks on the door and leave the house or start the car (yes he has done that). I think I may have my hands full with Blakie. Hopefully his behavioral issues will be on the milder side but only time will tell.

Please keep Marc and his mom and all the other families in your thoughts. The more I learn the more I realize that although these kids are very similar, they also have very different and unique challenges. Also keep praying that Blake's heart scan comes back normal. As that comes closer I am getting more and more nervous, but at the same time am anxious to know.

I found out some very interesting info yesterday.

I was googling the pediatric cardiologist Blake was referred to, and it turns out he came to Devos Children's Hospital from none other than Texas Children's Hospital-the very same hospital that is doing the research study on Potocki-Lupski syndrome.

Out of all the doctors we could have been referred to, we get (possibly) the only one in this area that may be familiar with this syndrome? He should know exactly what to look for!

That's not just luck or coincidence-that's someone looking out for us. For the first time I feel very calm about this whole heart thing. I feel like everything is going to be okay.

So, I have pretty much accepted the fact that Blake probably won't talk for a while yet. Except for a couple of words here and there, the majority of kids with PTLS don't really start speaking until around 3 or 4 at the earliest. Well, last night he told me he loved me.

Nick was taking him up to bed, and he stopped halfway up the stairs, looked at me, waved and said, " Ah la ou". Seriously? Did that just come out of my little boy's mouth? Granted it wasn't as clear as it would have been if a "typical" kid had said it, but it was clear enough that instantly Nick and I knew what he had just said.

I shouldn't be so surprised because he hears it all the time. We tell him during the day, before his nap, before bed, etc. It just makes sense that he would remember it. But I was shocked. Our mouths dropped open. I told him I loved him too, and then I started to cry.

I know this doesn't mean he will say it all the time. I may not hear it for another 2 years. But he said it yesterday, and that is enough to get me through until I hear it again.

Today Nick and I had our genetic consultation. Unfortunately we didn't really learn anything new. I've done a lot of research and have read most, if not all, of the info that Baylor College of Medicine has available, so we already knew most of what they had to share. They did show us a diagrams of what Blake's 17th chromosome looks like compared to a "normal" chromosome, so it was nice to have a picture in our minds of what exactly occurred.

We didn't have time to do our blood draws today so we'll have to do that some time soon. Genetics doesn't anticipate anything unusual showing up, though. Since both of us are "normal" it is more likely that this was just a random event, and if that's the case our kids/siblings won't have any higher chance of having a PTLS child than the general population.

They weren't as encouraging of going to Texas Children's as I thought they would be. They weren't against it, but they just felt that the cost of going may outweigh the benefits. Of course us getting to meet with experts of this condition would be a HUGE benefit, but we could have all the necessary testing done here. Plus it would be an extremely intense week for both Blake and me. They would be squeezing months of tests in to one week and I am sure that would be stressful and upsetting to him. But it may be better for him in the long run.

August 20 is the echocardiogram/EKG to check the structure and function of his heart. Please keep praying that everything turns out okay. I am pretty sure we will be able to get the results the same day, so we should know right away how the tests come back. His dr. did say at his last check up that he has a Stills murmur (sp?) but that it is pretty common (occurring in about 30% of perfectly healthy kids) and is nothing to worry about & not related to his condition at all. So I am praying everything checks out.

Otherwise he is doing absolutely wonderful! His chew/swallow has improved drastically in the past month or so. He is eating things I never would have tried 2 months ago; Gerber diced fruits and veggies, pancakes, bananas, cheese, crackers, and the other night he actually had ravioli for dinner! Not baby ravioli or pureed ravioli, but real ravioli mashed up with a fork. It is amazing how much better he has gotten in that area.

He is "talking" all the time. Not real words, of course, but he will make a variety of sounds in different pitches. It is very clear that he is imitating conversation which makes me think he is that much closer to talking. He has learned the sign for cracker, and the other day I asked him what he wanted and he signed "cracker" and "more". Yes, it was in the wrong order, but he put two signs together which shows huge progress in his understanding of baby sign language.

He does have some issues with his toes/ankles turning in when he walks, so PT has suggested we get him fitted for orthotics called UCBLs. These are braces that will fit in his shoes and are supposedly very comfortable. We're not sure yet if he will have to wear them short-term or long-term, but they will be very discreet so if he does need them when he's older hopefully it won't be a big deal to him.

Lastly, I have been lucky enough to make contact with a few other PTLS families. One of them is Julie and her son Christian, who is almost 21 and one of the oldest people known to have PTLS. She has been a great source of encouragement and support. Another is Amy, whose daughter Chloe is about 3 1/2. They have gone to TCH for the study and have a blog about their experience there. Words can not express how thankful I am to have found other families with this diagnosis.

On June 25, 2008, our lives changed.

I wasn't expecting the news that day. I had called genetics about some billing questions that I had, so when the genetic counselor called back I wasn't too concerned. Until she started talking about how we could bill Nick's and my bloodwork under Blake's diagnosis.

I had been waiting for someone to call me with results of the confirmation test we had done exactly 3 weeks earlier, but so far nobody had. Instantly I got a sinking feeling in my stomach. "Wait," I said. "So you got the results? This is what he has?" After a second of hesitation she said yes.

To be perfectly honest I don't remember much of what was said after that. We talked about testing Nick and me, we talked about things we'll need to test Blake for, we talked about a couple of studies we could participate in. At first I felt like I had been punched in the stomach. Then I started to cry, then I felt sick. The reality of how this could affect his life hit me like a ton of bricks. I started to go over the statistics in my head: 50% of people with PTLS have heart defects; most young adults have some degree of mental impairment; many have autism or display autistic behaviors.

The thought that something could be wrong with his heart was absolutely devastating. The fear of losing him is undescribable. How could this happy, healthy little boy who walks around the house playing and babbling all day have something wrong with his heart? Nick was very quiet and I think in denial at first. He didn't believe that such a strong, healthy boy could possibly be sick.

The next couple hours or so were a mix of shock and grief. I went to work that night in a fog. It's a good thing it wasn't very busy or I don't think I would have been able to function. I asked Nick to keep Blake up til I got home; I just wanted to hold him before he went to bed.

Looking back now, he had most of the classic symptoms. Low muscle tone, borderline failure to thrive, delayed gross and fine motor skills, difficulty swallowing, and now that he is older, speech delay. We don't see any signs of autism, but will have him assesed as part of his workup. Our main concerns right now are his heart and his kidneys. I called his doctor and asked that he be scheduled for an echocardiogram, EKG and renal ultrasound as soon as possible. If those come back ok then we can start thinking about other things.

There is a research study at Texas Childen's Hospital in Houston that we might participate in. In addition to helping researchers understand more about PTLS, we would have all the necessary testing over with in a week instead of dragging it out for months. Then we could start focusing on the future.

I feel much better then I did a few days ago. It is a relief for me to know without a doubt that we have finally found the answer we have been looking for. There will be no more wondering, no more specialists we don't need to see, no more pokes that Blake doesn't need. No more wasted time or energy. We now know what to watch for and that gives us the advantage. Knowing can only help Blake.

I have told myself from the beginning that it could be much, much worse. Blakie is happy and healthy. We are so lucky to have this diagnosis. We are so lucky to have Blakie.

I thought a diagnosis would be the end of this journey. Now I realize it is just the beginning.