Blake's Journey

2011-07-25T07:53:00.000-07:00

Well Blake is 5 now. He finished off the school year strong and will be doing one more year of ECSE in the fall. We had the option of sending him to preschool, but with his speech/cognitive delays I don't think he would have gotten the individual attention he needs to learn and would have been way behind. His ECSE teacher is moving to pre-K due to some physical restrictions, so he will have a new teacher next year. But I am hoping in a couple years he will be able to have Miss Sheri as a teacher again.

His speech has exploded since the last time I wrote. He is putting together many sentences and phrases, instead of just a couple. "I don't want to" and "I didn't mean to" are some of his favorites! He is also telling us to shut up (his dad is his favorite target for that one) and has gotten my 2 year old Alli saying it, so we are trying hard to break him of that habit before the school year.

He is eating everything and his behavior has gotten a lot better. He still has his days where he is really challenging, but most of the time it is just because he is bored and if we come up with something for him to do that helps.

We have gone to the beach a few times this summer and he LOVES it. He has no fear of water and is the first one in the lake. A life jacket is definitely needed for him because he does not understand how far is too far, and would quickly get in trouble. I think swimming lessons will be really good for him...maybe next year when he is a little older.

We are STILL potty training. He is pretty cooperative and will always go when brought to the bathroom, but does not tell us when he has to go. I am hoping this will come soon, because I feel like this is one of the main things that differentiates him between his peers. Although he has special needs, he is still 5, and that is pretty old to be in diapers. I don't want him to be the only kid in his class in pull-ups.

I took him and Alli to the mall the other day to play in the big tree house. I was nervous the whole night before because I thought he would be ignored by the other kids because of his delays. Then a little boy came up and introduced himself, and asked if Blake wanted to play. He kept asking him what his name was, and Blake wouldn't answer..I don't know if he was being shy or just didn't understand how to answer. Anyway I went over to him and I said "his name is Blake. He can't talk very well but I'm sure he would love to play with you." And that sweet little boy didn't care one bit. Blake and his new friend ran around that place together for the next hour, and it was so nice. So....normal. And it made me so happy.

I am enrolled at GRCC and will be starting school in a little over a month. I am so excited and so scared at the same time. I know I need to do this, to get my degree so my family can have a comfortable life. But what if I can't? What if I am not smart enough, or strong enough? What if I fail? I wish I had done this years ago, but the reality is I had my kids. I am only going part time, early in the morning or at night, so Nick and I can both still work, and I can still have time for the kids. When my name comes up on the wait list, all the kids will be in school and I will be able to attend during the day.

I feel so guilty because by the time I have my life together, Paige will be off to college and will miss out on the new house (with a pool) that I WILL have someday. We will have struggled through most of her life, and for that I am sorry. But we did the best we could with the cards we were dealt, and we can do better for the other kids. And Paige can use the pool when she comes home for the summer, right?

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2011-03-10T11:00:00.001-08:00

2011-02-26T11:43:00.000-08:00

Today at lunch Blake didn't want to eat, so he put the table cloth over his plate and just sat there. Apparently he thought no one would notice his ENTIRE plate was missing...so funny! I'm very impressed that he came up with that plan all by himself! He has also started saying, "oh, I see" when you tell him something...no idea where he got that from but it's hilarious.

He's doing well with his switch to the afternoon class.. He gets a little rowdy with another little boy in there but really seems to like his new friends. They have also been spending time in a typical preschool class and his teacher said he loves that. He has been a lot naughtier at home; we're assuming that's because we basically had to switch his entire day around...hoping he calms down soon because he can be really challenging at times.

2011-01-26T07:29:00.000-08:00

Blake has made such improvement over the past few months. He has started putting 3-4 word sentences together, even telling us "have a good day" when we go somewhere. He is constantly talking at home (even though it is still hard to understand a lot of it.) He loves school and riding the bus everyday. He knows many songs from TV shows, radio, etc...he actually seems to have a really good memory. It will be interesting to see how much he really has stored in that brain of his when he gets older. It actually makes me kind of nervous--I hope there's not too many moments of, 'hey mommy remember when you got really mad and said all those naughty words?'

Potty training is going slow but steady. He still isn't initiating potty trips but is always willing to try when I bring him. He is successful at least 3-4 times a day, although we are still working on the elusive #2...

I got a call from his teacher today who wants to move him to the afternoon class, which is a bit more of a higher level class. I am so happy she suggested that because I have been wondering if his current environment has been holding him back a little. He learns a lot by modeling others and in the class he is in now there aren't many typical behaviors for him to learn from. So excited for him to learn some new skills and behaviors. He is definitely up for the challenge!

Christmas was busy but really nice. Blake was really into it this year and remembered the Christmas tree and Santa from last year...they talked a lot about it at school and he loves singing "jingle bell, jingle bell, jingle all da way..HEY!" Christmas morning he sat on the floor patiently with all the other kids and when it was his turn for a gift he would say, "Yay!" LOL, sooo cute!

I hope everyone's New Year is going well. I'll try to update often but it is so hard to find the time with 5 kids!

2010-10-27T12:05:00.000-07:00

Blake had a repeat swallow study today and passed with flying colors! There was no sign of food or liquid going in to the lungs, so we officially no longer need to thicken his liquids. So very happy & thankful that after a very long journey we can finally put his feeding issues behind us. Yay!

2010-09-21T10:46:00.001-07:00

It finally happened....poo poo on the potty! Way to go Blake! He gets a blow pop for that.

2010-09-20T15:40:00.000-07:00

Blake had his second heart study last week. It went much better this time. He was such a big boy and was very cooperative, laying so still he almost fell asleep during the echo. The 1st one we had done (when he was 2) was horrible--he screamed the whole time and I had to hold him down for the whole thing.

Everything looks good so far-he has a stills murmur, which is fairly common (up to 30% of kids have one, including my TD son) and has nothing to do with ptls. The cardiologist said that if the aortic root were to dilate it most likely would happen between 8-13 years of age, which makes sense because that is when they hit their growth spurt. So we will check back in 3 years.

He also has started at a new preschool because we moved in to a different school district, and due to ECSE rules we can not bring him to an out-of-district school. I was pretty upset about that one. I loved his last school and teachers and thought they had a great program. I was really worried that he would be expecting to see the same faces and the same building from last year and was going to be totally confused and scared by the change.

He was a little unsure his first day, but when i picked him up he had a big smile and when I asked if he had fun he said "yeah!" His teacher is very nice and has 22 years of experience, plus her background is in speech pathology so her program is very language focused. With his biggest challenge being the speech delay i think this will be a huge benefit for him. Also the co-teacher specializes in ASD (autism spectrum disorders); a large percentage of ptls kids end up somewhere on the autism spectrum, so if this is the case for Blake we will have someone with him daily who is very knowledgeable in that area, too.

The Jenison school district has a reputation for their great special education program, and i have heard nothing but good things so i hope that it will work out...I still wish we could have kept him at his old school but I guess all that matters is that he is happy and getting whatever help he needs.

2010-08-12T21:47:00.000-07:00

Potty training has been going well. He has peed on the potty pretty much every day now. Still waiting for something a little more exciting to happen in there if you know what I mean. I don't even have to give him a reward most of the time; he is just happy to do the potty dance. I'm sure it will take a while but we are off to a good start.

2010-07-28T17:21:00.000-07:00

OMG! Blake just peed on the potty. It was an accident at first, but once he got the hang of it he just kept going. This has definitely given me new motivation to keep up on the potty visits...Before it was like, what's the point? He won't do anything anyway. But now that he knows what we want him to do and how to make himself do it on purpose, hopefully he get it fairly quickly. Yay for Blake! I guess mom has to make a trip to the store for things to put in his treat bucket...

2010-07-25T19:49:00.000-07:00

Blake has been doing really great the last couple of days! He has been throwing out random words all over the place and has been eating really well. He has been eating the sandwiches I make him for lunch and he has been eating his dinner without the usual struggle.

He is saying juice and cheese and thank you and many more words on a regular basis. Just today he took a bath and after he got out he said he was "keen"-it took me a minute to realize he was saying clean.

We are beyond excited for this sudden progress with his speech...we know that most of the kids with ptls start talking around 4 or 5 so we have been waiting for it to happen. We can not wait to see the progress he will make this school year.

2010-07-18T20:23:00.000-07:00

Ahhh, summer is here and the kids are driving me nuts already. Blake did a great job in his first year of preschool! His teachers said he behaves well and does great with the daily activities and routines. His speech is slowly but continuously improving and he is attempting to communicate more than at the beginning of the year. Just the other day I got back from the store and he said "mama home!"

He also has finally started eating bread, which he wouldn't touch before. That gives me so many more options for lunch-up until now it was yogurt and fruit or chicken patties. I have a feeling the sudden improvement in speech and eating are related, most likely the muscle tone in his mouth is improving. He had a repeat sleep study in May and this time he had no sleep apnea, just some snoring. So that is a great improvement! Once again possibly related to muscle tone?

His sleep study went much more smoothly this time. He was really good and when it was time for bed I laid with his for about 20 minutes or so. He watched the pulse ox monitor on his finger glow in the dark for a while and then he just went to sleep. And he slept all night. I thought I would sleep really well there. I didn't. I was up most of the night and was very happy when it was finally over and we could go home.

At home he has been quite the handful lately, pretty much needing constant supervision unless he is really into a movie. He is always picking on Alli; laying on her, kicking her, pulling her hair, pushing her. It has gotten to the point where she will scream when he even comes near her. And the other kids are targets, too. Savannah seems to be his second favorite to terrorize. I don't know if it is jealousy, lack of routine, his age, or behavioral issues associated with PTLS. The fact that he doesn't act like this at school tells me it has less to do with PTLS and more to do with the other things.

He had his 4th birthday last month so we have decided to use the summer to attempt potty training. He loves to sit on the potty; he will go and get his little stool and put his potty seat on the toilet. Then when he's done sitting he will get down and wash his hands and say "I pee! I poo!" even though he hasn't done anything yet. He will tell me he peed after he does it in his diaper, so I guess that's a start. I am trying to mentally prepare myself for the fact that it will most likely take forever, just like everything else he's learned has. You would think that I would be really good at being patient by now. I'm not.

2010-04-04T18:59:00.000-07:00

So Blake's speech has been his biggest challenge lately. Then just when I think it will never come it improves a little.

He started saying "cold" the other day; come to find out they had been learning about hot and cold in school and he took what he learned and started using it at home.

As if that isn't exciting enough, the other day I asked him what he did at school like I always do. He never answers me, but when I asked him he started imitating animals. When I read his What We Did Today Paper, sure enough it said they went over all the zoo phonics animals and the noises they make.

Then today, today was the biggie. He picked up Alli's bottle, brought it to me and said "here your baba." HERE YOUR BABA?!?! It came out more like "he ya baba" but it was perfectly clear what he said. He says words here and there but he has never put a 3 word sentence together. I've always had to prompt him to repeat a sentence. That is amazing and such a big deal. I am so excited and am hopeful his language development will continue to improve.

Hope you had a happy and blessed Easter--I know ours was!

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2010-04-01T07:54:00.001-07:00

Long time, no see...

2010-02-13T19:52:00.000-08:00

We have had a very busy 8 months or so, but I think I have finally found some time to update this blog.

Baby # 5 came a little sooner than expected, only a week after Blake's sleep study. Her name is Alli Elizabeth and she was 7.0 lbs and 19 inches long, with a full head of hair. She is now a beautiful, happy and healthy 8 month old. She is crawling and just started pulling up on her knees, and even pulled to stand a couple times! I can't believe she has grown so fast. It is sad for me because she will be our last, and I will miss the baby stage like crazy. BUT someday when I am done with school maybe I can work with babies in some capacity.

Also, Blake's dad and I finally got married in August after 8 years together (we did it all backwards, but we did it.) It was just family and we were blessed to not only have my grandparents attend, but my grandpa was actually the officiant. So that was very special for us. And Blake looked very handsome in his little tie!

The results of Blake's sleep study showed that he has mild obstructive sleep apnea, which means he only has a couple episodes of interrupted breathing at night. It doesn't seem to affect his quality of sleep much, as he is always rested the next day, so as far as treatment I don't think there is much we need to do right now. He has a repeat study coming up in May and we will see if there has been any improvement.

He is doing well with everything else; the speech is still the hump that he can't seem to get over. Gross motor is awesome, fine motor has improved, he can eat pretty much anything (although he has been in quite the picky stage lately.) He started a special needs preschool in the fall and really seems to like it-he even takes the bus now! I really didn't want him to ride the bus at first but once Alli was here and it started to get cold we thought it may be for the better. He has adjusted so well to everything, and his teachers say he is happy and well behaved and nice to others in the classroom.

He seems to be getting more and more frustrated with his inability to communicate-he acts up and screeches a lot, which really drives us crazy. We try to put ourselves in his shoes and be patient, but sometimes it is really hard. I keep praying that speech will come and I hope that God will hear me, because I want so much for that little boy...for him to be happy, successful, accepted. He is always talking and singing, and can say some words so I know he will talk someday...the other day i told him to hurry up with his breakfast and he rolled his eyes and said "k...gosh." So maybe I should appreciate the lack of talking back for the time being.

We didn't end up going to the PTLS conference last June because of the baby and the wedding, but they did end up making a dvd that I can not wait to see. If they have another this year I would really like to go and have Blake meet all the other kids. I think it will be so special for him as he gets older to know he has friends all over the world that are just like him.

Alli is waking up- probably from her little teeth coming in, so I'm signing off for now. From now on I will update more often than once every 8 months.

2009-05-17T10:46:00.000-07:00

Blake had his sleep study Thursday night. I wasn't sure if I should just do it or reschedule since it was so close to my due date, but I figured it would be easier to get it out of the way now than try to schedule around a newborn.

It went MUCH better than expected. I thought it was going to be a night full of crying, fighting, pulling off sensors, etc. He actually did amazingly well. We got settled in around 8 & put in a Barney movie to keep him distracted while the tech got him all wired up. He just sat there as she put them on his face, chest, head and chin. Then she wrapped it with a bandage to keep them on. He looked a little confused but really didn't seem to be bothered too much.

It wasn't until she put the rubber tube (that monitors breathing) in his nose that he got a little annoyed. He spent about the next hour pulling that out over and over and over. I put Barney in a second time, and the tech came back in to adjust everything and then laid him down and told him to go to sleep. And about 15 minutes later he did. I was expecting him to be really uncomfortable and wake up often during the night. He slept from 10:15 to 6, when they woke us up.

I, on the other hand, hardly got any sleep. I discovered during the study that he is a very loud breather when he sleeps on his back. I think he was also a little more restless than usual due to all the equipment that was attached to him. So every time he moved or made a sound I would wake up, then it would take a really long time to get back to sleep.

But I am just happy that he was able to get some sleep; it would have been much more stressful if he had been crying all night. He was a very big boy and then next morning we went down and got some pancakes. Then we went home and took a nice long nap.

I am expecting the results sometime next week-I will post again with the results.

2009-04-29T18:58:00.000-07:00

Blake had his final Early On evaluation last week. This is what determines what level he is at developmentally and what placement will be best for him in the fall.

He will be going to a different school than we originally thought; our house is right on the border of two districts, and we are in the other school district even though it is farther away (makes no sense-I know). BUT this school is a lot newer and is state of the art-they have awesome facilities and it was designed by the teachers and therapists that work there, so he will be getting the best of the best.

He was tested by the school's social worker; he averaged at about an 18 month level, the lowest being 13 month for expressive speech due to his speech delay. Which I guess is okay considering the tests are standardized so either they can do something or they can't, according to the "rules". There were many things he has done at home that he just didn't do that day for whatever reason, but that doesn't count. If the tester doesn't see it it isn't a skill, you know? So if he had been tested in a more familiar environment or my someone who knew him (like one of his therapists) I think he would have scored higher.

I have to admit I was really upset when we got home, mainly because I expected it to be a little higher, and the 13 month level for speech just crushed me. Here he is almost 3 and he is on the same level as a baby for speech??? He has been saying more words at home and is ALWAYS having a conversation with someone, even if we can't understand it. He will cock his head and make little hand motions like he is really talking. So he is improving and he is trying, so I guess we just have to focus on that and have faith that with a little more help it will come. Like I said before, if the tester had seen how he "talks" at home, he probably would have scored a little higher.

I have to expect that he is going to score lower than his age range. Part of PTLS is having developmental delays-I understand that. But it still hits a nerve when he is compared to other kids his age. His new school will be every day, half days. So he will be getting much more help, and he will be in a class with other SN kids as well as typical kids. That is great because he won't feel alone and yet he will be able to learn from the "regular" kids.

I will update as I get more information. Please keep him in your thoughts and prayers. I'm sure him going to school will be much harder on me than it is on him!!

2009-03-04T05:26:00.000-08:00

Blake is doing great!

He is eating everything in sight. He has graduated to small pieces of chicken, and we switched him to a regular sippy cup with a hard spout, which he has never been able to drink out of before. He got the hang of it right away, and the fact that he can suck hard enough to get something out means his oral tone has greatly improved.

He has been released from his private feeding therapy because he has made so much progress in that area, but he still gets group therapy through Early On 2 x a week. When group ends for the summer we may bring him back so he is getting something, depending on what his swallow study says in May. Hopefully it will show improvement this time and we will be able to wean him off the thickener we use for liquids.

He will age-out of Early On when he turns 3, so in the fall will be starting a special needs preschool. He is so tiny- I can't imagine him going to "real" school! They like for them to ride the bus so they can get to used to what school is like, but I don't think I will be able to bring myself to put him on a bus just yet. Maybe next year...

As far as the upcoming swallow study, I don't see how he could not show improvement and be eating the way that he is. I'm so worried that we are gonna get our hopes up again and find he is still aspirating, and take one giant step backwards in terms of his feeding.

Gross motor wise he is awesome-a little too awesome. Last night I was in the middle of getting him out of bed while making dinner and trying to keep the other kids somewhat under control. I brought him downstairs and put up the gates-except the gate to the stairs. Then I resumed my post in the kitchen. About 10 minutes later I happened to walk past the stairs and saw a flash up at the top. "Tyler," I called. "What are you doing?" Then I realized it wasn't Tyler. It was my ninja toddler, who, seeing an opportunity to get up the forbidden stairs, had soundlessly crept up there when no one was paying attention. I don't know what he had been doing or for how long, but he seemed to be having a great time.

He is "talking" more and more every day, and the other day picked up Nick's shoes and said "shoe" as he threw them into the kitchen (like he does with mostly anything that is in the living room-towards the end of the day you can't even walk through the doorway). Then yesterday he said shirt! Of course, the first time he says it is usually the clearest, then when I try to prove to someone that he can say it it's not too convincing. But I know he can say it, so that's all that matters. Also, the latest sign I have been working on is thank you. Last night he kept giving me cars, and finally tapped me on the arm and when I looked did the sign for thank you, all by himself! He has never done that before without me doing it first. He was telling me to say thank you for sharing his cars! That was really great. When they sign a word without being prompted, that's when you know they really got it. He is such a smart kid, and every day he does something that makes me proud.

Lastly, (I know-this is what happens when you only have time to update every couple weeks) we had our visit with the pulmonologist on Monday. This is the secon to the last specialist on our list of things to have checked out. Woo hoo! anyway, he said based on the fact that he sleeps so much, the fact that he has low muscle tone, and has had difficulty swallowing, he wants to send us for sleep study to check for apnea or any other sleep disorders. I have always had a gut feeling that this would be the one area where he has something going on, so we will at least know for sure. Treatment would depend on the severity of the disorder-it could be anything from medication to surgery to a cpap machine ( a mask they wear at night to help them breathe--I'd like to see them try to get my mischievous 2 year old wear that.)

Also, sleep disorders are very common among not just PTLS kids, but kids with various other syndromes as well. So we will keep our fingers crossed. It is scheduled for May 14, which is about 2 weeks before I have our new baby. NOT looking forward to spending the night at the hospital 9 months pregnant, up half the night trying to keep busy little hands from pulling hundreds of wires off his body. But we'll see how it goes, and when this is over we will have a much needed break from the battery of tests we have been through.

Anywho, time to get another kid off to school. I will update as new things happen.

2009-01-22T12:36:00.001-08:00

Blake's eye appt. went pretty well. She found no major problems, although did see some mild peripheral (cortical) cataracts. They are not interfering with his vision at this point, so we will recheck again in 6 months to see if they are progressing.

In children they are usually the result of eye trauma or congenital. I have also heard that cataracts are fairly common with genetic syndromes, although not enough is known about PTLS at this point to determine if they are related to his condition or not.

The good news is IF they progress as he gets older there are a couple different options he has as far as surgery goes. Cataract surgery is one of the most commonly performed surgeries and has a very high success rate. So we will keep an eye on it (no pun intended) and pray that it doesn't give him any problems.

Overall all he handled the exam like a champ, from the stinging eye drops to holding still for the doctor, and got some very cool sunglasses to wear home.

2009-01-15T20:15:00.000-08:00

As you may have noticed I have been MIA for quite some time. We have been SO busy with the holidays and school parties and a couple of strange maladies that I hope to never deal with again. BUT now everyone is healthy and things are finally back to normal after the stress of the last couple months.

All of the kids are doing well. Tyler got a great report from his kindergarten teacher; doing well academically, is well-behaved and kind to others. Savannah is enjoying pre-school, up and dressed and in a hurry to get there every day. She was actually upset when they had to go on Christmas break! Paige I am especially proud of this year. She is doing amazingly well in 6th grade, getting all A's and B's (even in science & math, where we had to work to get a C). She is in band and choir and enjoys both. I have gotten some very positive feedback from her teacher regarding her writing skills. She has a great talent in that area, and also in art. I am really surprised at that one considering the fact that I don't have an artistic bone in my body, but she is REALLY good. She drew some cartoonish animals recently that were so good I was convinced she had traced them. I actually had her draw another while I watched, and sure enough she did it just by looking at a picture in a book. I had never considered art as a career for her but she just may have a future in it.

That brings us to Blakie. That little guy is doing so well. A while back he started using the word 'mama' in a functional way-he would always say it, but not to communicate with me. He was eating one day and I was reading, and he said "mama". I looked and he signed to me that he was all done. He actually used the word to get my attention so he could tell me something! I couldn't believe it. He has since been using it on a regular basis to tell me things. He also says 'yeah' all the time (even when he shouldn't, but he says it so enthusiastically that it's adorable), and FINALLY started saying 'dada', which I think melted Nick's heart when he heard it. He says other things like doggie, what's that, bye bye, etc. Some are more clear than others but since we are always with him we can understand. He even got a note sent home from the speech therapist today saying how pleased she was with his vocalizing, and that he was imitating more words than he used to. That was so nice to hear. Speech is his biggest obstacle and we have waited a long time for him to make progress in that area.

He also had a check up last week and that was also great news. He has jumped to the 50th percentile for height and is almost at the 50th for weight. I'm positive this growth spurt can be attributed to his gains in the feeding area. He is eating basically anything that isn't really hard or crunchy, and still has trouble with bread and meat, but that will come. He has learned to jump with both feet off the ground, run, and will try to do anything his older siblings do. He has his opthamology appt on Jan. 20 to check for any eye conditions related to the PTLS. I am hopeful that this will come back normal like all the other tests we have had so far.

I think that is pretty much it. I am VERY blessed to have such amazing kids, and their dad who they adore and who adores them. I will try to find the time to post updates more often, and will definitely post the results of the optho exam.

I hope everyone has a great new year. I certainly am looking forward to the progress that will be made this year.

2008-11-12T11:22:00.000-08:00

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.

2008-10-12T19:51:00.000-07:00

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!

2008-09-22T20:47:00.000-07:00

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.

2008-09-19T21:17:00.000-07:00

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.

2008-08-20T18:51:00.000-07:00

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.

2008-08-19T18:54:00.000-07:00

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.

2008-08-04T10:21:00.000-07:00

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.

2008-07-29T11:00:00.000-07:00

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.

2008-07-25T08:48:00.000-07:00

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.

2008-07-22T12:51:00.000-07:00

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.

2008-07-14T20:12:00.000-07:00

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.

2008-06-28T11:39:00.000-07:00

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.