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PTEN Hamartoma Tumor Syndrome (PHTS)

Yesterday, we finally met with the genetics doctor down at the University of Minnesota to discuss Sam’s test results.

She was helpful explaining things and making recommendations on how to manage his health along with the possibility of mine and Sebastian’s.

She explained that with the PTEN gene mutation a lot of lines get blurred between the symptoms so his official diagnoses is PTEN Hamartoma Tumor Syndrome (PHTS) (http://www.chop.edu/service/oncology/our-programs/hereditary-cancer-predisposition-program/genetic-syndromes-with-cancer-risks/pten-hamartoma-tumor-syndrome.html). So I asked about the BZ and Cowden’s and she said that going by what runs in my family and his other symptoms he pretty much has both but again rather then confuse people (and themselves she said), genetics doctors and those in the field refer to it as PTEN Hamartoma Tumor Syndrome (PHTS).

She explained that more people lead normal lives with it then those that have the worst case with it. So I was happy to hear that.

The plan with Sam is to do a thyroid ultrasound and then yearly check ups with her for thyroid and skin checks.

She said that there is a higher risk for autism but with Sam’s personality she doesn’t feel like he would be diagnosed with autism but something more on the spectrum and it would be mild. So they will watch for that as well.

I also asked his delays and whether this was the cause or his prematurity and she said both.

For me, we talked about testing. So they took blood to do the test and we should know it about 4 weeks hopefully. If it comes back positive which they are suspecting I will be seen for possibly thyroid cancer and monitoring and then also breast cancer monitoring.

They also are testing Sebastian and if he comes back showing the mutuation, they will pretty much follow the same idea they are doing with Sam.

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Therapy, Therapy, Therapy and Therapy

Normally I split up Sam’s therapy posts to the days they occur but it’s been a crazy crazy week here in the P world.

So, all in all it was a rough week for Sam therapy wise. I don’t know if he’s not feeling good or teething or a little of both because really who feels good while teething but he was a hot mess during pretty much all of his sessions.

In PT on Monday, he did really well with assisted walking. He was doing good to the point, Shannon didn’t want to upset the flow by putting him in the gait trainer or on the treadmill.

She worked on some standing with him and some walking. That was about all she could do before he was a crying and screaming.

During the break between PT and ST, he calmed down with a bottle. He started out fairly well with Miranda and working on eating. She tried some soft cheese with him but he seemed to struggle a little bit so then she did some of the Beckman mouth exercises (http://www.beckmanoralmotor.com/about.php). He really didn’t like her hands in his cheeks so it started to go downhill from there. He did a little bite and munch but not enough where she felt he could handle more cheese and not get fatigued and also she didn’t want him to choke on it if it went back.

She tried a sippy cup with him which went o.k. She used a nubby (sp?) where you bit down on the spout thing and the water comes out. He seemed to struggle a little bit but started to get the idea. She said he seemed to have trouble swallowing as it was all pooling up in his mouth. He also had some trouble grasping the concept of sealing his lips around it. So more things to work on at home and she sent us home with some mouth exercises to try before eating.

Marylou through EI came by later on Monday. I had a lot of work to get down so I only sat with them for about 10 minutes. He seemed to do fairly well with her. They worked on play, sitting to stand and some cruising in his AFO’s.

On Wednesday, he wanted nothing to do with Paige and the OT student during OT. He was a mess from the word go. She tried to bounce with him and that didn’t work. He actually forgot bouncing which he never does. We put the spio suit on which seemed to make him more mad. They did get a little work with play in and some some cruising.

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Busy Times 3

So, as I think I have noted a few times over Mondays are crazy busy. This Monday was the first Monday where Sam had all 3 therapy sessions:

PT
ST
EI

It’s a lot to ask of the little dude but its the only day where we have the flexibility. Other days it gets tricky with my work schedule and such.

PT started with me telling Shannon about Sam’s cruising. She was happy to hear and wanted to see it. She warmed him up a little and then we put his spio suit on. He cruised a little for her.

Then she decided it was time for the treadmill. He did well getting the harness on and walking with her help to it.

However, he didn’t seem to know what to do in it.

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I don’t know if it was to much or he was tired but he didn’t do anything but stare off and just hang. The look he had worried me a little but he snapped out of it.

After getting him out of it, Sam didn’t seem to want to do much so we called it a session

Then we saw Miranda for feeding. He did really well. He let her do some Beckmann exercises with his face and jaw which loosed up his mouth.

He actually ate and chewed a puff. He’s never really bit down and CHEWED before.

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Later in the day, early intervention came by. She worked on sitting to stand and some cruising with him. She also did some work with play and books

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Needless to say after that Sam was out cold sleeping most of the afternoon.

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OT day

Wednesday was OT with Paige.

It was a pretty good visit and he did a lot of work with her. She let him play with some toys while I updated her and we discussed his other appointments like his PT with Shannon on Monday (which was great and I need to write about) and a really good speech/feeding visit with Miranda (this was really really good and I need to write about this one as well).

We also discussed the visit with the dietitian and she suggested to go with the foods that speech/Melissa suggested and that going to baby purees is like a step backwards for him rather than progressing with his proper development.

After that she worked on some two handed play with him to try and develop some new motor patterns rather than just swiping the toys away. Near the end of the exercise he was kind of doing it but mostly just grabbing her hands and placing them on the toy like no here you do it.

Then she moved to working on cruising. He did a little while playing with bowling pins and then she moved the pins down to a lower mat, which he wasn’t too sure how to handle. She was impressed with his cruising though.

She also worked on some crawling upwards with him, like crawling up stairs being he seems to have a little more stable movement with shifting his body weight and some more body awareness in terms of where he is in space.

At the end, I ended up talking a little bit with Miranda too as she was out cleaning some things.

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Dietitian

Well, it’s been a crazy busy start the week so I haven’t had much time to sit down and write down updates.

These will be a little out of order.

Tuesday was Sam’s appointment with the dietitian. It was both a good appointment and also a completely worthless not what I expected appointment.

It wasn’t quite what I expected because I explained things wrong I guess when I made the appointment. My understanding was to figure out what Sam’s nutritional needs were, how to get them via things like high calorie smoothies. etc. I guess I failed to understand that meant in place of formula/bottles, etc.

So with that being said, the appointment started with me being told that Sam’s a bit to heavy for his length but nothing to concerning as of yet. She gave me some good information like how many calories the toddler formula is and he is getting way to many calories from that. She suggested watering it down so he can get his water intake up and also to push milk but we tend to give him soy milk being he seems to be a bit uncomfortable and extra spitty with cow’s milk.

She gave me a ideal meal plan for him and to keep a food journal for a few weeks.

The real confusing part of the appointment was she said baby food was fine like stage 3 and we should really push that. That statement totally goes against what Melissa the speech therapist was telling us. So I wasn’t sure if I should call Miranda (our new speech therapist) or Melissa (who saw for feeding and suggested this appointment). Being Melissa suggested it, I called her and explained things to her.

Long story short, the plan is after talking to her:

–Keep the serving sizes that the dietitian gave us
–work on ditching the bottle and push it hard. So instead of watering down bottles, work of getting smoothies and such in place of those in a sippy cup.
–puree table food as it is more nutritional then baby purees and then there will be some texture to help him as well with his oral aversion

So like I mentioned about a good appointment in some ways but also kind of a pointless appointment in others. When I was talking to both Melissa and Paige, they were surprised that she suggested baby purees and didn’t think his oral issues were a concern.

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When Are You Going to Get Over It? The Lasting Effects of Prematurity – My Messy Beautiful

Momma P:

Part of me was going to post this over at my main journal but I think in a way it fits better here. This piece really speaks to me.

Originally posted on An Early Start:

I was on vacation when went into labor without warning at 23 weeks, 3 days pregnant. I was airlifted by helicopter to a strange hospital hours away from home. I wrapped my arms and legs around the bed rails as tight as I could hoping that would keep the baby from being born. I did not want to meet my baby yet because I did not want to watch him die. When the doctor told me I had to push, I cried from the my depths of my soul “NO – I WILL NOT HAVE THIS BABY TODAY!”

But I did.

And the delivery room was silent. And after long torturous minutes of resuscitation, we heard that first tiny mew – a sign of life – at an age when many doctors won’t perform life-saving procedures.

We watched our tiny son, Jaxson, who weighed barely more than a pound, struggle to breathe, fight…

View original 678 more words

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OT

Well, it’s Sunday and I never got around to writing about Sam’s OT visit on Wednesday. It was nice just having OT rather then the past few Wednesdays where it was speech/feeding therapy and then OT.

I don’t know if he’s hitting that age where he always wants Mom around but Sam was happy and playing in the waiting room, then Paige came in and he freaked out.

Thankfully, she had some toys out and I told her how much he liked the bowling pins Shannon used. So she pulled those out to play with while I updated her on things. She asked about the genetics testing and if we figured anything else out. I told her no and I guess she did some googling of Cowden’s and she didn’t think it from what she could make it, there isn’t anything she would do differently in OT.

Most of the visit was working on trying a different motor pattern with play. All he really does at the moment is swipe toys away so we are working on getting him to use two hands to play, grab things, bang them together, etc.

She also worked on some standing while playing. He cruised like two steps so that was pretty neat.

She wants to see how he plays while wearing the spio suit next week.

Not much else happened during the visit but it was a pretty good visit as he worked really hard.

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It is going to be a busy week this week.

Monday is PT, Speech, and early intervention.
Tuesday we met with a dietitian for Sam
Wednesday is OT

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20 Months

My dearest little dude,

Can you believe in 4 months Sam, you will 2 years old. 2! It’s been a crazy almost 2 years hasn’t it.

You are growing and looking so much like a little boy rather then a baby. it’s amazing but bittersweet at the same time with you being my last baby and all.

You are moving like crazy too. When you get crawling, you make tracks all over the apartment.

We went to the zoo this weekend it was the first time you were in the stroller and you seemed to enjoy seeing all the animals.

You started with a speech therapist for some feeding issues and I think that will be good.
You are still seeing all of your other therapists and making strides dear boy. it’s a long road but you are kicking butt and taking names.

We got the results of your genetics testing which came back with a mutation. we will be meeting with the doctor to see what exactly it all means in a few weeks.

We are going to met with a dietitian as well to see what we can do to get you off the bottle.

Busy busy as usual

love you my boy

Mom