Carter’s Issues

[Anonymous]

Hi Ann Marie – so sorry you are going through this, and I hope you are able to get some information soon. We went through the whole genetics and neuro thing with Andrew, so I feel for you…have they done any bloodwork for genetic/chromosomal testing yet? Where are you being seen? I know that there is no way to know where this road will lead – or where any roads will lead with kids, I guess – but I want you to know that Andrew looked really bad at the same age, and our neuro said basically the same thing to me as yours said to you. And the geneticist was quite sure he would find “something” but never did. Now Andrew is 10, and he does have some learning issues, and there have been struggles, but when I think about everything he went through, and what all the signs were pointing to back then… now I look at this big, happy kid who goes to a regular school, plays baseball and hockey, and loves life…so you just never know…try not to get too stuck in the “diagnosis” and enjoy him every day – please keep us posted.

[Anonymous]

Hi Ann Marie,

I can kind of second what Tricia had to say. We too have been on the genetic/metabolic/even mito roller coaster of tests. You are taking all the right steps–my instinct telling me something was wrong with Emma began early on, and finally around 6 mos, dh saw it, and then at her well-visit, doctor confirmed it. If you are uncomfortable w/ your docs, switch. Make sure they are all pediatric–that is very important. If there is a children’s hospital near you, it may be helpful to have all your docs there. That is our case, for the most part, & it helps to have everyone in one place.

I will tell you, when at 8 mos Emma first saw the neurologist, he was fairly grim and was concerned Emma had a degenerative neurological problem (meaning, short lifespan & major problems). Time was the only thing that really told us anything. Emma is doing great–much better than the neuro could have expected, he even told us that at a recent visit.

She was tested for lots of terrible diseases, most w/ short lifespans and very difficult health problems. We have reached a point where we are taking a break from anymore testing, as we feel at this point, we’ve looked at all the obvious possible ones. We see geneticist 1 x year until she’s about 6 or 7. The majority of kids w/ developmental delays never receive one diagnosis, syndrome, etc. Emma, it apears, fits that category. The good thing is we’ve ruled out the really bad things, the downside is that we don’t have a playbook to go by. So, we just take it one day at a time.

It sounds to me like Carter has hypotonia–which is low-tone. Emma has it too, mainly in her torso. While she now can walk & sit (a bit slumped still), she still cannot go from laying to sitting, and even has a bit of trouble rolling over. She gets tired more easily & still falls more than most almost-3 year olds. She has had PT since 8 mos old–that will be very helpful for your son. I would look into early intervention if you have not already, and if you’re not satisfied w/ their services, switch to private therapy if at all possible. Emma is in OT & ST, sees a behavioral therapist, and nutritionist. She goes in & out of PT, depending on her need. We use ECI for some & private therapy for others. She will start a special preschool program for kids w/ developmental disabilities in May.

This is long, I know. But, I remember how scared I was–for so long–and just remember you are doing ALL you can for Carter and you are doing the BEST you can for him. One tip–I keep a running journal (notebook) w/ any concerns, strange behaviors, etc. of Emma. When I visit the neuro or ped, I type these up along w/ any questions I have. These appts can be so heavy, my nerves sometimes get the best of me, but I hand the doc this paper & it is SOOO much easier! Everything gets addressed.

I hope you can get some answers soon for Carter. I understand about needing some support–it can be very hard when your friends & family can’t relate to what you are personally going through. I pray for your strength through all of this. There are great ladies here who are always ready to lend an ear or a shoulder. Even though I don’t visit much these days, we still have a chain of command (lol), I received this email from another older member who asked I write you. There are other forums that are great too, but sometimes I found myself getting more worried, afraid Emma might have this or that. IMO, once Carter has a dx, those forums would be great, but until then, sometimes the more you read (esp on the web!) can add more stress & anxiety. That’s just been my experience. Take care!

(((HUGS)))

[Anonymous]

Thank you all, Ladies!!!!!

We are already doing EI for PT, and we have been for about 8 months now. We have a pt come weekly and we are now waiting for a speech and OT consult this comeing week. I thought it was not enough services, so we are also doing two times a week private pt as well. I think this is a lot of the concern because we have been bombarding Carter with three days a week pt and not seeing forward progress. I am thinking of finding a pt who does aqua therapy as Carter loves the water and I think that would be good for him as well.

Our team is mostly out of Yale Children’s hospital with all pediatric doctors. So far we have seen the endocrynologist, neurologist, geneticist (we are seeing the new one on the 19th), the ENT, Cardiologist, and they all sort of look at us and say they agree there is something very wrong, but they don’t know what. It is very disheartening. I sometimes don’t know what my husband hears when we are in the same room, because he is in so much denial. I think maybe he gets it but is too scared to admit it.

I found a doctor out of the cleveland clinic called Dr. Natowicz (sp?) who is supposed to be very good. I made an appt, but the earliest we can get in is September. When I was making the appointment, they asked me what Carter’s diagnosis was. When I was describing our concerns and told him we didn’t yet have one, he put me on hold and had me speak with his assistant. Within an hour, the doctor himself called me back. He knows our neurologist and our new geneticist that we haven’t yet met, and said that he would work with them doing research over the phone so maybe we could figure it all out by September. If we haven’t, then we are going to fly out to see him. His fear is that if Carter gets very sick, which as of yet he hasn’t, that he may have a similar reaction as like the pertussus vaccination. He thinks that is how is body is reacting to stress. He also said that specific reaction could be related to certain conditions so he was going to research and get back to me.

It is just all so scary, and like you said, Lauren, we did go on line and try to research on our own and everything that fits his symptoms is very scary with awful prognosis. We are pretty sure there is a little palsey or something going on as Carter tends to always have those fists and barely uses his thumbs. We can’t even bring his hands together to the front he is so stiff.

You are all so wonderful and I feel like I am just venting and it is great to have people actually “listen”.

Heather, I am sorry that Bryce has a “diagnosis” , but at the same time happy for you to have answers. I think the worst part of this right now for me is not knowing that I am doing everything I should be to help him.

Regardless if we ever get a lable for what is going on or not, I just want to know that he is safe and that we are doing all we should be.

Anyway, now I am really rambling, so thank you again, ladies! You are all the strongest, smartest and most supportive group of moms around!!

Ann Marie

[Anonymous]

hi ann marie: i am sorry that you guys are having a rough time, i definitely think of you and the boys often, about your courage and humor which has gotten you to fight for the best for your boys. i hope you have some more decisive answers soon, and i know that there are some great genetic specialists at CHOP in philadelphia. i can do some more digging around and let you know who they are…although it seems like you have already found some good doctors. i will be thinking of you…

[Anonymous]

Hey there, Becky!

It is always great to catch up with you! I am hoping we are on the right track but I am always looking to the moms here for the best doctors, as I am willing to travel the country for him at this point. Every once in a while you hear about some amazing doctors that really figured things out, and I need someone who is willing to think outside the box at this point. Whatever it is (if it is anything they will put a name to) is not obvious.

I was thinking last night about a lot of the children here (Emma, Andrew, Matthew, Bryce, etc…), and how well they are doing despite what the doctors once thought. I always believe a lot of that has to do with how much help they receive by how hard we fight for them. I am hoping that is the case for us as well.

I am amazed at how strong we can be when we need to…..

monty1232007-3-12 10:45:56

[Anonymous]

So sorry Ann Marie, the unknown is sometimes the hardest part. Hopefully, you will have some answers soon. Carter is lucky to have such a proactive mom. Please keep us posted.

[Anonymous]

Ann Marie,

Just wanted to say hi & let you know I was thinking about you. I pray you have some answers soon–that that they are hopeful ones. You are doing an amazing job–and being SO proactive, getting all that therapy, seeing the best docs, give yourself a healthy pat on the back! There is not a single thing more you could be doing, maintain your faith in that.

I can relate w/ the husband thing–I’m sure in fact, most ladies here can! We’d leave an appt & it was like we were at two separate visits!! Dh finally gets in now…Emma will be 3 in May! Part of it, and to this day it’s still an issue, is that I research & understand a diagnosis or issue top to bottom. I am there at every appt, each therapy session (heck, I could be a therapist by now! LOL!), and he isn’t. So, there’s a learning curve there. Also, I know how dh handled things early on was to WORK. He was putting in overtime & so focused on making more money, that I felt like I had lost his support. He later told me he did this as his way to help. Men want to fix, and kids w/ special needs, it’s beyond their realm.

Anyway, here’s my email if you ever need it: [email protected] Through our journey, I’ve ended up w/ a lot of info on all sorts of things (from genetic disorders to mito to PDD, etc!). Take care. (((HUGS)))

[Anonymous]

Thanks, Lauren. I will e-mail you. Definitely sparked her attention, and she tested all chromosones SP? and tons of metabolic disorders. I did read something about blood transfusions and immunizations and Carter had a transfusion two weeks prior to the 2 month shots. David, I think, heard her loud and clear. I specifically asked her to tell me if she thought we were being crazy and that these were just minor things that we should wait out and she gave us a firm NO that we needed to try to see what was going on with Carter.

You are so right that this is a journey and I am afraid that it is just the beginning for us.

Thanks again! I appreciate your kind words.

Ann Marie

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