The CDD Journey: New Discoveries and New Fears

 

Childhood disintegrative disorder: New Discoveries and New Fears

One week ago today we received a phone call from Gavin’s pediatrician’s office. They were calling because lab work had come back and there was a problem, rather two problems. Gavin apparently had low lgM and lgG. We didn’t understand exactly what that meant but we were told to make an appointment with an immunologist. Lucky for us we already had one at Akron Children’s Hospital, Dr. Nancy Wasserbauer, DO and so we called for an appointment. Dr. Nancy Wasserbauer, DO is absolutely fantastic and we couldn’t ask for a better person to fill her role.

To my surprise, we had an appointment within 4 days from the time of the call. I honestly was thinking Gavin was going to be allergic to something that was causing the problem. We did some research but didn’t really have a good idea about what we were facing.

My biggest concern at the time was preparing for Gavin to possibly be scratch tested. It’s a very common way to detect allergies.  We went through that with Emmett and it was quite traumatizing for both Emmett and Lizze and I as his parents. It’s not like it horribly painful but for a child with many sensory needs, being held down, while 16 tiny needles scrape across your back, is a less than pleasant experience. Knowing how Gavin would most likely react was not something I was looking forward to. This was just another step in our childhood disintegrative disorder journey….or so we thought.

Childhood disintegrative disorder: Sobering News

When we arrived at Akron Children’s Hospital, we didn’t have to wait more then ten minutes before we were called back to be seen. Lizze and I were a bit on edge because Gavin has not been doing very well when it came to needles. He screams a horrible, horrible, ear piercing scream the entire time. He was doing much better with these but lately, like many other things in Gavin’s life, we have taken a few steps backwards.

They took all Gavin’s vitals, which were painless, at least physically. Gavin was already getting nervous that he might have to get a shot. We hadn’t said anything to him one way or the other because we didn’t know. Gavin is almost always nervous when going to the doctors because he generalizes everything and so if he got a shot at one doctor then by Gavin’s logic, all doctors will give him a shot. Does that make sense?

Dr. Nancy Wasserbauer, DO came into the room shortly after the nurse had left. She sat down and went over the lab results with us. She explained what the lgM and lgG antibodies were for.

lgG antibodies are the smallest and most common antibodies in the human body. They account for 75% – 80% of all antibodies present in the human body. lgG are the only antibodies that can cross the placenta to help protect a developing baby. They are extremely important in fighting off infections, both bacterial and viral.

lgM are the largest of all the antibodies but only make up 5% – 10% of the total antibodies present in the human body. lgM are basically the bodies first responders, much the same way as a paramedic is a first responder. They also cause other parts of the bodies other immune system to destroy foreign substances within the body.

The are a few other antibodies but right now I’m only concerned about these two. Dr. Nancy Wasserbauer, DO explained that Gavin’s  lgM and lgG antibodies were low. We said that we were aware of that. She said, “I don’t think you understand, Gavin’s  lgM and lgG antibodies are extremely low. We need to start infusing in the next few days at the latest.”.

I was confused. How did we not know this? How did we go from childhood disintegrative disorder to no immune system? How exactly does that happen?

Childhood disintegrative disorder: The light at the end of the tunnel….was a train

Dr. Nancy Wasserbauer, DO explained that, basically, Gavin has a severely compromised immune system. We were in shock and didn’t have any idea how we could have missed this. Dr. Nancy Wasserbauer, DO said that Gavin must begin monthly infusions of donor antibodies ASAP. She said that we have two options. We could do the monthly infusions at Akron Children’s Hospital (takes about one hour) or we could use something very similar to an insulin pump and do the infusions at least once a week at home (takes about two hours).

These infusions would now be a new part of Gavin’s life and likely a permanent part. This isn’t the first time something new has been added to his already complex life.. Gavin must have weekly blood draws in order to monitor his white blood cell count because of the Clozopine he is currently taking to help manage the Schizoaffective disorder. The medication is so tightly controlled that he must have his blood taken each week and the lab must certify a copy of the results and fax them to the pharmacy. The pharmacy then certifies the results and faxes them to the manufacturer who then releases seven days worth of pills.

This was not at all what we were expecting to have happen today when we woke up this morning. However, as bad as this was, we had no idea just how bad this could be. As it turns out Gavin may have something called Ataxia Telangiectasia, which is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech. Low lgM and lgG is also a symptom as well. It would seem to explain some of Gavin’s otherwise unexplained issues. I was nervously playing with my phone and I inadvertently snapped a picture of Lizze’s reaction the moment we heard of this possibility.

The really distressing part is that Ataxia Telangiectasia is fatal. Most people don’t make it past their late teens or early 20’s. In Gavin’s case this is still unconfirmed and further examination is needed to confirm this type of diagnosis. Right now the priority is his compromised immune system because that is a very real medical crisis and it needs to be dealt with right away. The Ataxia Telangiectasia will be something we address after we address the current situation.

On the way home, we had to get the massive amount of blood work done and also get the chest and sinus x-rays down. Gavin had a total of 7 tubs of blood taken and he actually did really well. I promised him time on the XBOX if he didn’t scream so he was quite motivated.

WTF, WTF, WTF…….I just don’t know what else to say

We began this journey a couple of weeks ago because of Gavin’s continued regression. We went from childhood disintegrative disorder consult to Gavin no longer having his reflexes intact. Then out of nowhere we get blindsided by another health crisis, Gavin’s compromised immune system. From there we learn that Gavin may or may not have a very rare disorder called Ataxia Telangiectasia that is universally fatal. I would say that WTF sums things up pretty well.

Even though we don’t know for sure at this point if Gavin has Ataxia Telangiectasia or not it stills weighs very heavy on our hearts. Not knowing something like this for sure is simply maddening. This new information is putting strain on a system that wasn’t up to code in the first place. Meaning we are already buried and this will only serve to make things worse.

I fully understand that we must prioritize right now and deal with what needs dealt with first. However, knowing that Ataxia Telangiectasia and/or childhood disintegrative disorder is a possibility is a very bitter pill to swallow. They are both still very much unknown factors and between that and watching Gavin continue to deteriorate the pain is indescribable. Add to that Emmett’s recurring, unexplained, week long fevers and the fact that Dr. Nancy Wasserbauer, DO is checking him for the very same issues and the strain becomes almost unbearable.

I will admit that I have been experiencing the, “Why Gavin? Why us?” alot lately. Right now everything is swirling all around us and we are having a hard time finding our footing. All we can do right now is wait to be told what to do and pray alot. This is beyond physically and emotionally draining so being motivated to to do anything more then necessary is challenging at best.

 

That said, we still have two new schools to find before the end of this month and we have to get to the bottom of why Emmett is having these fevers.

I think that WTF is the best way to sum all this up…either way it’s all I have for right now.

 

 

 

0 0 votes
Article Rating
Subscribe
Notify of
guest

This site uses Akismet to reduce spam. Learn how your comment data is processed.

6 Comments
most voted
newest oldest
Inline Feedbacks
View all comments
Israa

may god help you. my god give you and your family all the strength and the patience .

Barb

Lizze and Rob… you know I am devastated by this news too… I just don't want to believe it. I know Gavin has something wrong, but I hope and pray it isn't what the Dr is thinking. I hope it's something that can be cured. This is just too much to bear. My heart breaks for both of you and of course for my dear sweet Gavin. I love him so much I can't express it. I am praying and praying for Gavin and Emmett, and for all of you. I'm praying for healing, for strength, for whatever it takes to get through this.
Love Mom W

Carolyn

Wow – sorry, my kids just flew into the room before (the seven year old one (on the spectrum) in full blown tantrum mode) and I hit reply before I meant to. Quotes always have helped me, through life's struggles both little and big. Someone sent me this quote three years ago when my youngest boy was in the NICU fighting for his life. We were told he wasn't going to make it at that time, he was being put on a lung bypass machine and they just weren't sure whether that would help him or not. For some odd reason, it really helped me then. No idea why, but what the heck, the why of it doesn't even matter – does it? So, I thought I would pass it along. If it helps, great. If it doesn't, please take it in the spirit it was intended. From one parent terrified of losing a child to another. Given with the hope of passing on just a little tiny bit of comfort.
My recent post What I know for sure – Autism has not ruined my life

Carolyn

Dear Rob,

“Promise me you'll always remember: You're braver than you believe, and stronger than you seem, and smarter than you think."

Christopher Robin to Pooh (…and now me to you)

My recent post What I know for sure – Autism has not ruined my life

@pugariffic73

WOW!
Our son generalizes Docs too. He thinks EVERY doctor is out to give him shots. I dread the day he NEEDS a shot. I cant get ANYONE to take blood from our son. HORRIBLY terrified of needles. It takes 6 people to restrain him for 1 shot in the butt. We haven't had bloodwork in 2+ yrs because of this.

I really hope Gavin catches a break soon. ALL of you. I read you blog a lot.. and we're right there with you. WHY US? WHY THIS!? WHY DO OTHER PEOPLE GET TO WALK THROUGH FIRE AND COME OUT PERFECTLY FINE. WHY DOES MY NEIGHBOR SPIT OUT A NEW KID EVERY YEAR AND THEY'RE ALL NT. effing SUCKS.

@wishartglass

You have been through so much. I'm keeping your family in my thoughts.

6
0
Would love your thoughts, please comment.x
()
x
%d bloggers like this: