Important note: See Resentment,Grief and Guilt (A very honest post) for background. Reading that first, will help to put the rest of this post into perspective.
Childhood disintegrative disorder
Today has been one of those days. You know, the kind that just seems to literally come out of nowhere and yank the rug out from underneath you. I met with Dr. R, Gavin’s psychiatrist, this afternoon. It was just supposed to be a routine medication check. We were discussing some of the things that we were concerned about with Gavin.
I broached the subject of childhood disintegrative disorder as a possible explanation for Gavin’s continued regression. The last thing in the world I was expecting to hear was Dr. R actually agree with me. He said that he has been thinking this was a possibility for some time now but he wasn’t sure and he still isn’t.
This condition is extremely rare and he has never, personally seen a case, so he didn’t want to un-necessarily worry us. We have, however, reached a point where something is clearly wrong and Aspergers no longer seems explain Gavin’s condition.
I typically describe Gavin as having a rare form of Aspergers, for lack of a better explanation. The reason for this is that continued regression is not very common. Some regression isn’t all that uncommon but the frequency that Gavin has experienced regression is concerning.
What is childhood disintegrative disorder?
The Mayo Clinic defines childhood disintegrative disorder as the following:
“Childhood disintegrative disorder, also known as Heller’s syndrome, is a condition in which children develop normally until ages 2 to 4, but then demonstrate a severe loss of social, communication and other skills.”
The symptoms, per the Mayo Clinic are as follows:
“Dramatic loss of previously acquired skills in two or more of the following areas:
- Language, including a severe decline in the ability to speak and have a conversation
- Social skills, including significant difficulty relating to and interacting with others
- Play, including a loss of interest in imaginary play and in a variety of games and activities
- Motor skills, including a dramatic decline in the ability to walk, climb, grasp objects and other movements
- Bowel or bladder control, including frequent accidents in a child who was previously toilet-trained
Loss of developmental milestones may occur abruptly over the course of days to weeks or gradually over an extended period of time.”
This fits Gavin with a disturbing amount of accuracy. It also makes alot of sense as well. I’m still learning about this rare form of Autism, so I am by no means well versed yet. Gavin developed normally till about 3 or 4 and it was like someone flipped a switch and shut Gavin off. I know that sounds really strange but it was literally like we put him to bed……”Gavin”…and he woke up….someone else.
Over the past few years, Gavin has also lost his once massive vocabulary and his speech has considerably regressed. He has lost a good deal of muscle coordination as well, falling up the stairs and dropping things quite frequently (this could also be explained by puberty).
While nothing is for sure right now, childhood disintegrative disorder does seem to fit (at least to some extent) and it makes more sense then Aspergers.
What’s the prognosis of childhood disintegrative disorder?
While trying to research this disorder, I found very little in the way of a prognosis or expectation of progression as well as treatment options. What I did find was located on the National Institutes of Health website. The following is per National Institutes of Health:
“The outlook for this disorder is poor. Most children with the condition have an impairment similar to that of children with severe autism by age 10. Treatment is the same as for autistic disorder (autism) because the two disorders are similar. One experimental treatment uses steroid medications to slow the progression of the condition.”
What I don’t know is how far this disorder progresses. Does it ever reach a point where is stops? I have heard this is fatal and that is terrifying. What I do know for sure is that this disorder is so rare that not much in the way of research has been done. So there doesn’t seem to be a huge amount of information out there and that is frustrating to say the very least.
Our next move is to locate an expert in the field. Dr. R said we need someone who is uniquely qualified to evaluate Gavin and properly diagnose him. He is not familiar with anyone that specializes in this disorder. Much of his career was spent at Harvard, so he has only been in the area since roughly 2005.
He stressed that we don’t know anything more then Gavin has continued to regress over the years and Aspergers doesn’t explain that. Many of his symptoms do fit the criteria for childhood disintegrative disorder but Dr. R is not comfortable diagnosing this because he has no personal experience with this disorder.
As a side note, Gavin has had extensive genetic and various other testing done over the years to rule out as many possibilities as we can. None of these test have ever produced any biological or metabolic explanation for Gavin’s conditions.
In the morning the phone calls will begin. We are going to contact the Cleveland Clinic, Rainbow Babies and Nationwide Children’s Hospital in Columbus. If we have no luck, then we will have to widen our search to bordering states. We will do whatever it takes to figure this out.
Right now, I really kinda numb. I’m scared because I don’t know very much about this disorder. I like having a better understanding of what we may be dealing with. It helps me stay focused and moving forward. At the moment, we are in limbo and that has be very much on edge.
Lizze has spent a great deal of time crying today after I talked with her about this. Writing this has helped me to keep from going crazy tonight. Tomorrow is a new day and we now face a very new and potential challenge. I don’t know where this new fork in the road is going to take us but we will find a way to get through this….whatever “this” ends up being.
I would greatly appreciate any insight you may have pertaining to this disorder. Right now I don’t know enough about childhood disintegrative disorder and that is very unsettling.
Hello Rob and family,my heart goes out to you all…..I have a son with cdd and it is truly terrifying.I spend xmas alone with him when he comes home from residential,it is very hard work.I send his neurotypicall brother to a family xmas party,to feel what xmas is like in normal famillies.I do not want to take his childhood away,as his brother requires 24 hours.
James was fine till three and a half,had grommets fitted because he had glue ear which is common.He lost all his speech, social skills ,learning ability, and empathy in two weeks.Like you all tests are negative.
I am waiting for the research,maybe if they find the cure for altzimers,they may find it also for cdd.Cdd use to be referred to as child dementia at one stage.
My son was recently diagnosed with Hellers syndrome and your site is the only one so far that I’ve found that has helped. Thanks.
I stumbled upon this as I'm researching CDD. My daughter is much how you describe Gavin but she's 4 and regressed almost completely around Dec to Jan. Where do you find more information about CDD besides the generic Webmd stuff? So far she's been diagnoised as severe ASD but no one has been able to explain the sudden onset and severe regresson at 3.
I have been researching CDD for some time now, and I actually find it very frustrating that it is being grouped with ASD. The effects may be similar, but it is in fact very different from a neurochemical and neurophysiological standpoint. Psychologists love to group things by symptom similarity, but I really think we are going down the wrong road in doing so with this disorder. Symptom similarity does not make the common cold a type of flu. The possibility of sudden and severe onset of CDD in particular is troubling, and my first instinct as a scientist is to wonder if it is in fact a pathogenic illness.
I truly wish the best for your child, and hope with all my heart that he has not been stricken by this horrible malady.
By the way, when I say researching, I don't mean formally. I am a researcher, but CDD is not the subject of my work. Just didn't want to give the wrong impression.
Thanks. I happen to agree with you. My understanding is that CDD is going away in the next revision of the DSM. There is simply to much confusion with everything being lumped together.
Hello Rob, I know a family with a child with CDD and came across your posts. How is Gavin doing now? What kind of therapies is he getting? I read a book by Robert Catano called "When Autism Strikes," chronicling the stories of his son and 7 other kids diagnosed with CDD. You might already be familiar with it. If not, you might find it helpful. Most of the kids plateaued at some point.
I have a brother who has CDD, and i’m wondering if your son actually got diagnosed or not?
You cannot escape the responsibility of tomorrow by evading it today. -Abraham Lincoln
Yes, there is a plateau. We are finally clawing our way back after four years. It DOES get better with tons of hard work. Our son had a seizure disorder (partial seizures, hard to see) that was the culprit. INSIST on a 24 hour EEG (one that also detects things during sleep) because those will give you so much more information. And if there are no seizures? At least you can cross something off your list. It is SO HARD TO WATCH. It makes me want to cry just thinking about it because I know all too well how you feel. It sucks and I felt so helpless. I just wanted to scoop him up and run away. I miss his smiles and his giggly voice. But it does get better.
Thank you very much for sharing your story. It\’s good to know there a bottom to this regression.
This new possible revelation explains so many things. The correct diagnosis will at least give us a better understanding of what is going on.
Thank you again for sharing this info with me.
I like your site and appreciate all that you do and go through.Wow. I was wondering if you have tried any special diets with the kids, or checked their food intolerances/ allergies? did it help or not?
Emmett is dealing with food allergies so he\’s on a special diet. Gavin doesn\’t have any food allergies. That was one of the first things we tested.
Great question. 😉
I have 3 medically complex kids, one with "PDD-NOS" within the list of his "alphabet soup". All 3 have had GI issues, skin rashes & he had diar & vomiting until we completely changed his diet. Allergy testing showed nothing but following the Specific Carbohydrate Diet has been terrific for him- no vomiting/diar & his & his twins' airways (previously irritated as well as collapsed) are significantly improved- smooth "normal" wall structures for much of the airway instead of very bumpy/irritated. Hard to really find someone who checks intolerances- would love to figure out exactly WHAT of what we have deleted is the "key" to his susccess- for now we live grain-free etc…
Very interesting. We have celiac in the family. My mom has been gluten free for almost 10 years now. All my kids have been tested and all are Celiac free.
Thanks for sharing and I\’m glad your kids are doing better 🙂
Our son was diagnosed with CDD in January of 2010 after being diagnosed with bipolar at the age of 3, Aspergers at the age 5 as well as anxiety disorder, sensory processing disorder and OCD and complex partial seizures. It is a very real and very scary disease! You can read about the testing and some of the results of our son's testing on our blog here – http://twospecialneedschildren.blogspot.com/2010_…. We had the testing done by a Neuropsychologist in our town, so that's an option to look at.
I completely understand your description of it being like someone "flipped a switch" in Gavin, because that is exactly the way we describe our Caleb. We adopted Caleb at birth and so we do not have a lot of medical history on his birthparents. He has been through the gamut of genetics testing as well, including seeing a geneticist in Arkansas, but as of yet there is no "reason" for Caleb's regression.
One thing I would encourage you to do is to also consult with a Neurologist. One thing that I have learned with CDD and that the Neuropsychologist had explained, most kids with CDD have some type of seizure disorder and it is usually silent seizures, which is exactly what our Caleb has.
If you would like more information regarding what we have seen that you can't get answers from our blog, please feel free to contact me directly at cassandra dot sines at gmail dot com.
Thank you so very much for sharing this. I really appreciate your honesty.
Remembering how I felt when my first son was diagnosed with (just) autism, I can relate to your fears. However, you DON'T know yet. You don't know what his real diagnosis is. You don't know (and won't for years) what his real potential is. Keep moving forward, but don't look too far forward. Your imaginings are only that, the reality will be different. You are doing the right things for right now. Look only at the next 2 or 3 steps. Remember, battle plans rarely survive the first engagement with the enemy.
I will remember you in my prayers.
My understanding is also that there is a plateau in the regression. I worked with a boy with CDD although his regression was much more severe than Gavin's so it's hard to compare. He was a similar age to Gavin but completely non verbal. Thinking of you guys.
Thank you this is very comforting…
I have a brother with CDD who is non-verbal, i'm wondering if you would mind emailing me to chat about this boy you worked with!
There is a small prognosis section here: http://www.minddisorders.com/Br-Del/Childhood-dis… and here: http://health.nytimes.com/health/guides/disease/c…
There is nothing I can say to make this easier on you, Gavin and the family. All I can say is that my heart goes out to all of you and your family will be in my prayers – I really mean that.
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I have worked in the field of autism for many years (prior to the arrival of my younger children) and remember working with a teen with this disorder, among other children. I know that some of the "related" disorders can be scary but my experience and understanding is, when Mayo says: "The outcome for children with childhood disintegrative disorder is usually worse than for children with autism. The loss of language, cognitive, social and self-care skills tends to be severe and unlikely to improve" they do not mean 'continues to progress'- I believe there is a plateau, that some skills may be regained, but that not all skills are regained or there isn't significant progress over time, even with intervention. Disheartening, maddening, but not deadly. I hope the team that you locate will be able to rule out the lipid & other disorders- or rule one in that is treatable. All the best to you & your family.
Thank you VERY much. The plan is to locate the most capable person and see what they think. Not much to go on right now but we have to start somewhere. Thanks again for your speedy response. I really mean that 🙂