When the light at the end of the tunnel…..is a train

I’m going to keep this pretty short as we have our hands full today. When I can, I’ll do a more detailed post but for right now this is all I’m capable of. We met with the Immunologist this morning at Akron Children’s Hospital. If you recall we were referred there when it was discovered that Gavin’s lgM and lgG were low. We thought that the our biggest problem was going to be scratch testing. We couldn’t have been more off target if we tried…

We didn’t understand what low meant. As it turns out Gavin lgM and lgG are extremely low. They are so low in fact that he will at least need monthly infusions going forward or we can put him on a pump and at home at least once a week. Basically, a small (subQ) needle goes into his belly and the pump infuses over a 2 hour period of time. Lizze and I were both speechless and in shock. We didn’t have a clue that this was going on.

She also discovered that Gavin has pneumonia as well and put him on heavy duty antibiotics. We thought it was allergies because we were asking about changing allergy meds. She said that she thinks that the meds aren’t working because he doesn’t have allergies. She thinks he is chronically sick and that the allergy symptoms are actually chronic sinusitis. At this point the guilt sets in. How did we not know this? How is this even possible? How could we have missed this?

As we get closer and closer to the light at the end of the tunnel everything begins to fall apart.

After examining Gavin and reviewing the labs she believes that Gavin has Ataxia Telangiectasia, a degenerative neurological disorder that explains much of what we couldn’t explain until now. My understanding is that we still need to genetically confirm this but right now we have to give him back his immune system before we can do anything else.

She explained that people diagnosed with Ataxia Telangiectasia usually only live to their teens or early twenties. It took everything we had not to break down right there. We didn’t want to alert Gavin to anything.

With that, I suddenly realized that light at the end of our tunnel was what I had feared most……..a train..

That are going to call us ASAP and tell us when to show up for the first infusion. She wants in done in the next three days. On the way home we stop to get ALL the collective blood work done that needed done and get x-rays to confirm the pneumonia. Gavin was super brave for both and had 7 or 8 vials of blood taken.

I wanted to write all of this down before I forgot anything. I figured this was as good a place as any. I feel like I’m forgetting things but I don’t think I did. As I was talking to my mother in law on the phone while writing this AEP shows up to shut our power off. This not a good day……..

UPDATE: I realized what I forgot. They are testing Emmett for the same disorder because of his chronic fevers. How could I have possibly forgotten that? What’s wrong with me? ……………………

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ctrywoman

I am researching Akron Immunologist and discovered this post. We are trying to find an answer to our daughter's chronic fevers. She is now 17 and has had these "reccuring viral infections" along with "warning signs" on her face since she was 4 years old. She has been on allergy meds for over 5 months now and it hasn't made a difference in the fevers. She has about one a month but no more and sometimes just every other month. Her tests will come back that her red blood count is up or down and white count is up or down, depending on the day. It crazy that no one has an answer to what's going on. We have been to many physicians and a Pediatric Rheumatologist but still no answers. We even had in in the E.R. at Akron Children's and after many tests they came in and said, "well, lets take care fo the elephant in the room and say that your daughter does not has leukemia". wow. We had not gone that route mentally.
What should they be looking for? What tests can they still run?
Hope you have stayed strong on your journey. I see the last post has been a year ago.
We have also entered into financial difficulties. 2010: car crash back injury for me, my husband lost his job to "downsizing" and our daughter served her country in Afghanistan only to be "separated" when she returned. Our water has been turned off twice, cable many times and even the electric once!
~always hopeful in Medina

Carolyn

Oh Rob. There are no words. I'm so very sorry that your family is going through this. Sending prayers your way. I will be waiting for your updates.
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Lost_and_Tired

Thanks everyone for all the support. I really appreciate it.

Onyx Panthyr

Don't beat yourself up for possibly having missed something. You do everything that you possibly can for your family! You aren't a machine, you're a wonderful loving father and provider. You always do what you can to the best of your capabilities. That's all anyone, yourself included, can ask for. The only thing wrong with you is that you're overwhelmed, and anyone in your place would be right now. You all have my thoughts and prayers. Gods bless.

evelyncox

Don't for a second think there is ANYTHING wrong with you!! How one person can process all of that information and write anything legible at all afterwards is amazing to me. Your family is in my thoughts and prayers. I'm so sorry that you just can't catch a break. Love and hugs!

Catrina

Keeping you all in my prayers. *hugs*
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Julia

I've read this about 4 times now and I still don't know what to say. It's not often that I hope medical professionals have messed up but this is one of those times. Hope you and Lizze are doing ok. Thinking of you all.

Jodi Flanders-Mathis

Continued prayers from the Mathis family!

nan

As always, praying for you guys.

And just a thought – it seems that both parents need to be carriers of the gene for Ataxia Telangiectasia. Since Gavin and Emmett have different biological fathers, aren't the odds of Emmett being affected quite low, if this is indeed what you're dealing with?
http://www.sharecare.com/question/increases-risk-

Dearest_Nikky

Nan – good point!!!

@sarabethhart

I am so sorry you have to deal with all this, and everything feels like it is coming at once. Don't second guess yourself or feel guilty. There has been too much to juggle and no one would have done a better job than you and your wife have taking care of so much. Gavin and all of you will be in my prayers.

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suz

Your doing the best you can with what you have and thats all any parent can do. Infact your doing more than many parents as you have kept fighting to find what is going on.

Michele

The brain immono gut issue, I am sorry my friend… There are no words, except to say we send you love from across the globe. http://Www.mindd.org contact Leslie she my be able to shed some light.

Sarah Low

Do NOT beat yourself up about not knowing Gavin has been fighting infections rather than allergies – without knowing (and without the bloodwork, how could you?) that his immune system was failing the symptoms are all very similar. This is very sobering and very distressing news, and I am so incredibly sorry that you are possibly on the same track as this particular train. There are a lot of us here for you and your family while you are dealing with this – please don't be hard on yourself. Keep posting, keep talking through it, we're listening, you guys are not alone.
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transatlanticlife

We are all with you.

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Tam

This is definitely not the news we were hoping for :/ Reading up on that disorder it kinda makes me wonder if xrays for the pnemonia diag are the best idea? I don't know if there's another way to diagnose pnemonia for sure, but it sounds like X-rays can exacerbate the other condition? I'll be praying for you guys.

Lost_and_Tired

I was thinking the same thing actually. I think it comes down to, ones a risk and the other is a threat. The pneumonia is an immediate problem and he could be sensitive to the xrays.

Thanks again. We are going to meet with his psychologist in a few to try and sort through some of this and try to get a footing….

basekamp

Hugs to you guys and thinking of you everyday.

basekamp

Actually, research done at our children's hospital showed that most pneumonia in children can be accurately assessed with other means- a good history of illness & lung sounds, symptoms. It's hard to know with all that is going on for Gavin whether simply treating with antibiotics might be a good choice- hard to know. My kids get so many upper respiratory infections- and often the symptoms seem like pneumonia even without a true pneumonia- but we want to only use antibiotics in "for sure" cases since they need treatment frequently and we don't want to develop resistance in other "bugs"…

Stephenie

I am so sorry that you have to deal with all of this. How scary for all of you! I'll be praying for your family, for clear answers and for the chance that they could be wrong about this!
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jen

So sorry you are dealing with this all. I have a cllse friend whose has 2 kids with primary immune deficiency and they do the weekly infusions at home. The good thing is her kids are rarely sick now, so hopefully it will really help Gavin. I will be thinking of you during the other testing, and really hoping the dr is wrong about the ataxia…

Dearest_Nikky

is there any tests (aside from the genetic testing) to definitely confirm/deny this?

Lost_and_Tired

Thank you everyone. My admittedly limited understanding is that it can be confirmed genetically. We have an appointment at the Cole Eye Center in Cleveland next week. I think they can also confirm via a special eye exam.

What I walked away with and Lizze can correct me if I\’m wrong but I thinks it\’s like getting a chest xray and being told that you have Cancer. They can tell by looking at what they have but will confirm via biopsy. I think that\’s kinda where we are right now. We need to genetically confirm. If that makes sense?

As vet said, Gavin is any but typical so who knows. She said right now he needs the antibody infusion ASAP. So that\’s the first thing. Where we go from there…..I have no idea.

Thank you all so much for your support.

Yvette Kennedy

There is NOTHING wrong with you! You simply forgot b/c there is soooo much going on with Gavin. It's very easy to do. I am so sorry and so upset at this news. I have been crying since Lizze text me. I keep hoping that they are wrong. However, just b/c they say people with this disorder only typically live in their teens or 20s we have to remember that Gavin and your life is anything but typical! I pray and hope that he will be one of those rare cases you hear about that they have these diseases that are supposed to be fatal, but they end up outliving it! I am so upset b/c this is a problem I can't help with and that hurts me. I remember holding Gavin right after he came home from the hospital. Sitting in Lizzie's room watching him smile up at me. God can't take him yet or any time soon. I said he can't and that's how it stands! If there is anything I can do Rob please don't hesitate to call/text/email/send a damn singing telegram (but make sure it's not a clown!) I will be ther & help in anyway I can. Lizzie has my number! I love you all!

Dearest_Nikky

^what she said. all of the above. (including the part about the clown!)

Karin

You have a LOT on your plate. Don’t beat yourself up over missing it, just be grateful that you caught it before it was way too late.
Goddess be with you and your family. Thoughts become things, you know. Gavin WILL get better. You have to believe that. *hugs* to you and your boys.

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