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JJ's Updates

Visit to Dr. Dobyns
Saturday, February 14th, 2009

JJ went to see the Lissencephaly specialist yesterday(wahoo! We've had the appointment set up since JULY!) and it went SOOO well! We were NOT expecting this at all but JJ's Miller-Dieker Syndrome(type of Liss that is more severe than ILS) was WRONG!!! He still has grade 3 ILS but this is a WONDERFUL gift from God! It means that his brain is not completly smooth, he has some convulutions in front and the back is mostly smooth. Apparently when doing the chromosomal deletion test, it showed that JJ DOES have the deletion for Lissencephaly but the reason he was "diagnosed" as MDS was because the lab tech reading it didn't realize there was a difference between Miller Dieker and Isolated Lissencephaly Sequence(ILS) and he wrote down MDS. The "old" neurologist then read the report and thought that the tech knew what he was talking about and let us know that he had MDS. This is truly a gift from God and I feel so blessed to recieve it! He's doing very well so far and has not yet had pneumonia. Also he told me that only about 1/4th of them can roll and JJ can roll from back to tummy unassisted and from tummy to back with just a little help. He also is constantly rolling from side to side. I am SO proud of my little man! He said his seizures are very well controlled and if they weren't he wouldn't be able to roll. All we need to work on now is getting him to a healthy weight and he said the reason he's having issues is probably due to the reflux, and was a little perturbed that they didn't do a fundoplication when they did his g-tube surgery. He said if it were him he wouldn't have even done the acid test and just went ahead and did the fundoplication along with the g tube surgery because the kids mostly wi ll need one eventually anyway. So we are going to work on his weight gain(with the help of a dietician which we see in like 2 weeks) and when he gets up to where he needs to be he'll be at the top of his game! :-) I'm so proud and blessed to be the mama of this little angel! Christy

Sorry it's been so long!
Sunday, December 21st, 2008

Oh wow its been forever! Things have been SOOO busy since Isaiah started school. I feel like I barely have time to breath so I apologize for not writing more! JJ got his G-tube November 24th and started having his seizures the same day. He is now on Topamax and Phenobarbitol. They are very good at controlling his seizures (I haven't seen any since we added the phenobarb). He still eats baby food and other stuff orally but he gets all his liquids through the g tube. I really am so glad that we got it! He's such a little lover, and we are still getting used to the timing schedule for the meds and so often he and I are the only ones awake in the late evenings which is extremely nice to get quality one on one time with him with out any one else bugging me. I'll add more when I get a little more time, but that's all I have right now!!!

Heard back from the Dr.
Friday, August 29, 2008

Well I heard back from Dr. Sweet today and confirmed exactly what I had thought about the swallow study, which is the good news. Also found out that the blood test that he had done last week came back and it was not "normal". He has Miller Dieker Syndrome. I'm not sure what that means as of now, other than that his Lissencephaly was caused by a mutation of one of his chromosomes. I don't know if his life span will be affected, or if it means there will be more problems. I'll definitely let you all know when I know more. Thanks for all the love and support guys!

Swallow Study Yesterday
Thursday, August 28, 2008

JJ had his second swallow study done yesterday and although he is still aspirating, and will need a G tube, We got the results that I was praying for. He did REALLY well with the baby food thickness and even the nectar thickness(which is almost like syrup thickness I think) it was just the thin stuff that he aspirated a little bit. I'm so glad that hopefully(I haven't talked to his dr yet) he'll only have to have liquid through the g tube, I'll still be able to feed him baby food by mouth! :) I'm SO happy to get that news! I have accepted the fact that he needs a G tube, it was the never being able to feed him by mouth again that bothered me. So I'm really glad to have gotten the results I wanted! :)

EEG & Neuro Appointments
Wednesday, August 20, 2008

Ok so I'm SO tired now that we're back home, but I thought I'd fill you guys in anyhow. Before we left we HAD to stop by JJ's rehab place because today was our OT's last day and I had a present for her(a blanket I had made her). So we did that and I was(and still am) so sad that she is leaving!

Cris and I had a very nice ride up, I can talk to her so easily, and she and I always seem to be on the same page, which is so cool. Anyway we get there and have to go get JJ's blood drawn immediately. That was horrible, they could not find a vein and when they did they didn't get all the blood they needed so they had to go poking him again. He did NOT like it in the least bit! Then we had the EEG which he did not like the technician putting those electrodes on his head! Poor kid I felt bad for him! During the EEG they used a strobe light which was different from the last time that he had one done and he didn't really seem all that affected by it. He pretty much just stared straight into my face the whole time. I think he was scared. It was very hard to resist snatching him up and cuddling him. Although I was not allowed to pick him up, I was allowed to lay next to him in the bed and cuddle with him as best I could(without messing his head up! He was just watching me making sure I didn't move the whole entire time, I could tell he just wanted me to hold him which just broke my heart! When that was all finished we still had 2 hours until his appointment and we went down to eat lunch and had a really nice chat once again. :) Then we went back upstairs to his checkup with the neuro(how fun!) and found out that his EEG results were the same as in May. Still abnormal but "normal" for his disorder. She is still pushing the G tube although next week(August 27) he has another swallow study and we'll see what that says before making any choices. Most likely he will get one put in soon, but quite possibly he'll be able to eat thicker foods by mouth. And if that's how it has to be I'm ok with it. I don't know if I'd ever be ok with completely feeding him through the G tube. So anyway that is how our day went, and both of us(and Cris) are exhausted!

A few updates
Monday, August 18, 2008

I'm sorry I haven't posted anything here in a while, this summer has been so crazy hectic! We've had appointment after appointment(therapy mostly but others too). Well in early July we added another scoop of formula to JJ's bottles and that seemed to help a TON! He hadn't gained any weight since May which was NOT good. But since then he's gained 2 and a half pounds! YAY JJ! And along with the additional weight gain he had some big developmental progressions too! :) He can now roll over mostly unassisted from tummy to back, and only needs a little more assistance getting from back to tummy! He's also tracking toys, faces and other objects now where as before he wouldn't, and he's also reaching out trying to grab those toys too! His head control is ever so slowly getting more steady, and he smiles almost constantly. We were very very sad today, because it was our last session with our beloved OT Doreen. Doreen, we will make sure to keep in touch, and know that we will miss you, and are so lucky to have had you as our Occupational Therapist these past months! You will be truly missed!

Back in July(I think it was the 14th) we had another appointment with the neurologist, and she put him on a anti-seizure medication(FINALLY, and after 2 months of me seeing NOTHING). So he's been on Zonegran since then and after the first week, which was horrible(he slept ALOT and did NOT want to eat, and also kept getting up around 2 am!) I called the neuro and she told me(via her nurse of course) to only give him half a capsule(in his bottle) at around 8-9ish pm. SO I've been doing that since and we've not really had too many other problems. He still has his days where he doesn't seem as hungry as others, but over all it is much better than that first week. Wednesday we go for almost a whole day(yippee ki-yi-ay!) for blood work, another EEG and another appointment with the neuro. I'm so NOT looking forward to this. UG. BUT please pray that our little man's blood work(more detailed chromosome test) comes back normal(first one did already) because if it does that means that he gets to be in some sort of a research group(not sure what all this entails yet) but my guess is that it means he'll be more closely monitored than he is now(which will be nice, I'm so tired of my son only seeming to be important to me!). Also we have an appointment scheduled for February with Dr. Dobyns(YAY!) the Lissencephaly specialist in Chicago, and even though its a ways away, I'm just happy to be on the list! I'm also on the cancel list so if anyone cancels we can potentially be moved up! :) As far as I know thats about all I have to report today(I can't remember much else, and its getting late, forgive me!) I will update again after the appointment Wednesday! Thanks for the prayers and God bless!

Results of the Baer, more IS
Thursday, May 22, 2008

Well I called Bronson this morning and of course perfect timing, the Dr was not in today. I talked to her nurse who didn't know if the dr had an email address that I could send the video to or not(ok what professional do you know that doesn't have email?) Anyway she said I may have to burn it to a dvd and mail it to her(GRRR why does EVERYTHING take SO long?! this is my baby, he needs help ASAP!) She said she would talk to the dr in the morning. I'm so frustrated with that whole office! We are going to be seeing if we can get into a Ped Neuro in SB, its closer and I'm NOT happy with his Ped Neuro!!! Anyway about 20 minutes after I got off the phone with that nurse the other Ped Neuro in the same office's nurse called me and had the results for Baer hearing test and it came back perfectly normal. So he hears fine which we already knew he could hear but now I know he has no hearing problems. And later on around 6:30 tonight he had another cluster of IS, it didn't last as long as the ones last night, but again I was able to catch it on video. Just more footage for whatever dr. Hope everyone is doing well!

Infantile Spasms at home
Wednesday, May 21, 2008

I am pretty sure that tonight that JJ had his first "cluster" of Infantile Spasms. I've never seen him do this before and it was pretty scary(not to watch, just knowing how IS can affect kids.) I had Jason grab my camera and take a video of him doing these. You can watch it if you want to, they aren't really disturbing, or scary, just like little twitches. It breaks my heart though. Oh and if you do decide to watch it, please don't mind me, it was 8:30 in the evening and I had my pajama's on cause we were all watching a movie together!

Occupational Therapy, with Doreen
Tuesday, May 20, 2008

Todday was GREAT! While we were at Occupational Therapy this morning, JJ put the toy he had in his hand up to his mouth, ON HIS OWN, 2 times! YAY! I know for most kids this is not something you would get so excited over, but for us it is PROGRESS! YAY!!! I'm so proud of my little man!!!!

Swallow Study, Baer(hearing)test, EEG
Monday, May 12, 2008

Ok so we got to the hospital right on time and went back to have the swallow study done. I had to undress him and everything and talk to the Speech therapist about him and why they were having this test done. So I told her what was going on and that I really didn't think JJ had any problems because he never seemed to choke while he was eating and you've seen how well he's been gaining weight. I did tell her though that sometimes when I pull the bottle out of his mouth when he is done or when I need to burp him he does cough a little bit but not usually while he's eating. So we did the swallow study and they used 4 different consistency's of food. The first one was really thin and he did aspirate some of that. The second one was called "nectar" and it was a little bit thicker but still went in through the bottle and went down well. He didn't aspirate any of this. Then I spoonfed him the "honey" consistency which was like the baby food that he is used to eating. He didn't aspirate any of that either. And last but not least he was spoonfed the thickest kind which they called "pudding" and he did aspirate some of that. So the techs there said that I needed to talk to the dr but that they thought that he'd need a feeding tube. Which scared the crap out of me as I'm sure you can imagine, I mean think about the fact that your child will never taste their food. But I tried not to think about it and thought well I'll just wait and see what the dr has to say. So we went on to the next test which was supposed to just be the Baer hearing test, but they ended up being able to do the EEG and the hearing test at the same time so that save us about 2 or 2.5 hours. So he got all the electrode thingys on his head(he did really well for most of this, he just didn't like having his head held still. He got all the things on they wrapped his head with gauze and then put the ear phones on his head. He was quite fussy while laying there so I gave him the rest of his bottle and then he was still really fussy but I could tell he was tired so the tech or whatever said I could hold him and pretty much as soon as I picked him up he was out like a light. Poor little guy just needed some loving from mommy! Then while he was sleeping they ran the hearing test. Then I had to wake him up and she said he woke up beautifully! I guess a lot of kids get really upset when they get woken up or something. I haven't heard back about either the hearing test or the EEG, I did however hear from the dr about the swallow study. He will have to have a feeding tube. We are very very disappointed with that, but if it keeps him healthy it is something that we will have to do. Anyway that is how all JJ's tests went!