Jamie Critchell had a feeling that her son may be following in her footsteps when he only developed 18 of his 20 baby teeth. A trip to his pediatric dentist led them on a journey to a diagnosis of one of the more rare types of ectodermal dysplasia called odontoonychodermal dysplasia (OODD), which is an autosomal recessive condition. This means, each parent carries a gene for the condition. The diagnosis wouldn’t have happened if this Canadian mom had listened to a care provider who told her that “it wasn’t that bad” and that they didn’t need genetic testing. Jamie trusted her motherly instinct and knew that it could offer understanding and information for her family. We interviewed Jamie to find out more about her son, Dexter; OODD, and how they are navigating this uncharted territory. Jamie and her husband, Andy, also have a daughter named Imogen.
Tell me about your son, Dexter, who is six years old. How would you describe him?
All moms say that their kids are the sweetest, the most whatever, but in this case I do truly mean that Dexter is a sweet, caring boy. He wants everyone around him to be happy and will do what he can and give of himself to make it happen. He has an engineering mind and loves to figure out how things work. He likes rules and order but still can let loose and be a crazy kid. I really believe that given the opportunity, he could make the world better in some way.
What are some of Dexter’s favorite things to do?
Dexter loves dirt, mud, digging and all things construction. LEGO is steadily taking over our home (making it a little treacherous for bare feet!). He has found reading and spelling at school, which has inspired him at home. He’s even reading all the labels on the ketchup bottle!
You mentioned that he was diagnosed after seeing a specialist and had genetic testing. What kind of doctor diagnosed him?
Originally, it was our family dentist who first said the words “ectodermal dysplasia” when Dex had his first “grown up” dental exam. At that time, he could see that Dex was missing at least 10 adult teeth (and those two baby teeth) and recommended us to see a pediatric dentist. We went straight to the new dentist in hopes for more information. They dismissed the “ectodermal dysplasia” and said that he “was not that bad” and we were not to worry about anything.
Missing five adult teeth myself, I know firsthand the issues improper or uncoordinated dental care can do. Therefore, this did not sit well with me. I went to my family doctor with hopes of getting a genetic test. During this time, I started reading about this a little more and noticed that some of my family members have little parts of this (condition) present in them. This only strengthened my resolve to get him tested.
Due to our medical system (in Canada), our family doctor was not able to order the tests and we had to be referred to a pediatric specialist. Once we could get in to see them, then the request was made to our local Children’s hospital. After several months, we got the appointment to meet with the genetics department and interview the doctors.
After the interview, we then had Dex’ blood taken. We had to wait to see if the hospital board would approve the funding for the test. A further few more months, we finally got the letter with the diagnosis. Dex as was five years old. We knew it would not change anything in our lives but it was such a good feeling to know we have facts and can start to piece together a game plan for his life to make it as ‘normal’ as any other child.
It was a long road with some telling us this was not important…it really was and is.
Odontoonychodermal Dysplasia (OODD) is one of the more rare types of ectodermal dysplasias. What symptoms of ectodermal dysplasia does Dexter have?
Dex is missing two baby teeth which was the trigger for me to ask the dentist, which lead to OODD. However, by asking this question, we also got the answer which we did not want to hear…Dex is missing 14 adult teeth, six of which are front and center with four more visible with a smile. He has a couple of slightly more than normal pointed teeth. So there are some serious concerns not only cosmetically, but also with regards to bite, speech, breathing, posture. The list really goes on.
Next would be his nails. He has soft, thin nails that split or layer. It’s not severe, but we do have a frequent nail care regime in our home to keep on top of it.
Third, is sweat glands. Dex can sweat. However, he does not seem to be able to cool himself enough. He is a normally warm kid and we need to be careful to ensure he is cool enough but not cold (especially in Canada). He gets heat rash very easily (even in winter when we cuddle up with all the blankets). With sports in summer, we are extra careful.
Then, there is his skin. He does appear to have thickening of the skin on the bottom of his feet (mild but we are watching) and what looks to be eczema from time to time. There is the heat rash that comes and dryness. However, to be fair, in our climate there is not much humidity, so so dryness might be environmental.
Dex also has gastrointestinal issues which might be connected but we are just beginning to explore this with the doctors.
Are there other symptoms he does not have but will likely have in the future?
We are not sure at this point. We have a standing appointment with the pediatric doctor every six months just to watch, talk and learn all we can.
How does this condition affect his everyday life?
Luckily, he does not understand and he does not look to different from his peers. But, the time will come when he does and that is what we are working on preparing him for. His confidence in who he is and his strength to rise above is our focus for him now.
At present, there is no impact on his life. He knows that he should take good care of his teeth and that they are special. When it is hot, he is to keep cool and drink cold water. So, he is still able to just be him.
We, on the other hand, are just a little warier but we really don’t see what we do or how we do it to be different than anyone else. Maybe this will change in the future as his self-awareness changes and the important of social interactions and stature comes into play. But, but that will be for then, not now.
What treatments /care will Dexter need in the future?
A lot, I think, is the simple answer. We know that we will need to replace at least 10 of the missing teeth; therefore, implants for him in about 14 years. Now what the path looks like to get there, that is the unknown. If we get to keep baby teeth, then I think the path is a little less bumpy. If they fall out, then we will have to strap in for the ride (dentures? bone grafts? who knows? posture, speech…oh so many factors). He is now at the age when the tooth fairy starts to visit. We have been holding our breath that she skips our house, at least for now.
As for the sweating and gastrointestinal issues, this we are still learning and adapting with him. So here is yet another piece missing, but we think we can handle it whatever it may be.
You mentioned that you are a carrier. Did you know that there was a name for your condition or were you diagnosed when Dexter was?
I knew I had five adult teeth missing and I always thought I had psoriasis on my heel/bottom of feet and horrible nails…like really awful! However, at no point until that one dentist visit, did I nor my family start to piece it together.
Suddenly as I am looking up ectodermal dysplasia, I am seeing similarities to the condition and my family. My mother has trouble with sweating and must be careful in the heat. My uncle suddenly tells me he is also missing some teeth. And then it starts to fit. This is what pushed me to keep telling the doctors that there is something there and I am not just a helicopter/tiger mom who is overreacting.
Once Dex was diagnosed and we knew I had some traits, we thought it would be good to understand what my genetic role played into this. Hence, I was tested and found to only be a carrier.
While this lessened my “mom guilt” in half, it also clicked that my daughter would have a 25% chance of this condition as well. It also made us laugh as I am from Canada and my husband is from England. So, somehow, us two carriers of this rare type could find each other across an ocean – what are the odds?!
We have just been informed that our 4-year-old is presently missing at least eight adult teeth. Now, we are working on getting her tested to see where she is at genetically and if we have two kids with OODD.
What challenges, if any, have you faced with OODD?
My main challenge is the lack of knowledge from everyone including myself. It amazes me how many “lightbulb” moments I have as I learn more about it. My family (past generations) start to make sense, my life experiences start to make sense.
It is stunning just how much knowledge is power (cheesy but true).
How have you coped with your symptoms? Which ones present greater challenges for everyday life?
When I was young, I was definitely aware of the gaps in my teeth and was very self-conscious about it. I would never smile showing my teeth and was not a fan of my picture being taken in case you could see my teeth. I was also tall (I am 5’11”) and did some modelling but never took to it since I was “ashamed” of my smile. My mother was a strong woman and raised me to be as well. I was able to compensate for my own issues with my appearance with personality.
Now as an adult, I am living with the mess that my then dentist and orthodontist did to my teeth and the issues I have now (fallen molars, narrow palate and as a recent dentist that I just met pointed out… my neck/head is out of alignment due to a bite issue). There is not much of a chance for me to be set right so I do what I can with what is capable with my family dentist. That is my major challenge that I face and I fear that it will only get worse for me until ultimately, I will be forced with dentures or some major corrective procedure – eek!
In terms of my skin, I was diagnosed with psoriasis at age eight. Luckily for me, it only flares up once every eight years. But I always had issues with my feet and around my finger nails with the thickening of skin. I just thought it was a part of psoriasis and gave up on treatments since they never worked. Now, I am thinking I might know why!
I am still very aware of my hands, especially the nails as they are awful. Thin, layers and generally not pleasant. I try not to use my hands to point or talk with them. I’m even aware where I place then when I am in meetings.
What have you learned from your experience with ectodermal dysplasia?
I am not sure I have learned anything yet. As my family is so new to this all, I think I am still in the stage where I am absorbing all the information I can. I have not yet had time to compute it all and having the waves of information roll over me. Suddenly, things are making sense.
I kind of wish I could make a time machine so I could tell young me and my mother all about this.
I am feeling hopeful that at least I will be able to give this gift of knowledge to my kids and maybe some doctors/dentist as we going through this.
We are now learning how to navigate the medical, dental and insurance world in order to make sure he reaches his full potential and that we help educate everyone along the way that this is not some “Hollywood smile” or “anti-social kid in summer” issue. Even though we are in Canada, we are all people with similar challenges and great kids who just want to be kids.
Have you had trouble in finding medical professionals that are aware of or know how to treat ectodermal dysplasia? Have you found support for those struggles? If so, where and how?
To be blunt…YUP! Our family dentist was the only medical professional that we have come across that had any understanding (albeit basic). Even the pediatric dentist didn’t get it and was narrow minded when it came to the various permutations of ectodermal dysplasia.
I am happy that I have found medical professionals who are willing to learn alongside us, but I know they will be the minority of what we will encounter through my lifetime. I have also been considering what I may need to do for both my provincial (state) government and even federal level as well. This is a large uncertainty for me as I am not sure what support is out there for us in Canada. Maybe it is already in place and I just don’t know about it or maybe there is nothing and I need to start this ball rolling.
My job will never end in making sure the doctors, government and insurance providers know about this condition and all under the umbrella of ectodermal dysplasia and will no doubt become harder and more financially demanding.
What is one piece of advice that you have for other families affected by ectodermal dysplasia?
Even though our family is new to this world, my advice to others would be to trust your instincts and never stop asking questions or looking for information. The other piece, which I personally think is more important than anything to do with the condition or medical world, is to ensure your child has the confidence, happiness and pride in themselves to walk in this world.
My job as mom is to get through all this medical, red tape and my children’s role is to be the best, happy, self-confident kids they can be.
The world is going to be tough on them and they need to be set up to be successful in all the ways we can give them.
How did you find the NFED?
It was our pediatric doctor who found your website and suggested that we take a look. Our son OODD is completely new to her and she has really joined our family to help us try and navigate the medical and dental waters. In return, we are happy to teach her and work with her to bring about a better understanding of this to other medical professionals.
How has the NFED website been useful for your learning about ectodermal dysplasia?
Oh my, YES! Before our pediatrician told me about this site, I was Googling for anything I could find for OODD, which in turn lead me to medical journals (I a bit of a science geek so didn’t mind) but it was not exactly tailored to help me understand what it means for Dex or us. This website was the answer.
Yes, it is American-based but the information about the condition knows no geographical bounds. To be honest, it is nice to know that there are numerous others out there with some of the same challenges we are face here (gov’t, insurance companies, etc.). I still have not used this website to its fullest; however, I intend to spend a whole lot more time here.
Have you connected with any other families?
We have not yet; not for any other reason as I am not sure how and have not looked into it yet. It would be great to have a mentor family that could help guide us. But, that would be hard as well since our medical systems are indeed different. But from the perspective of the child and also just the pitfalls to avoid would be nice to know.
Have you been able to help other families with your experience, as well?
At the moment, no. We have not met anyone else with ectodermal dysplasia nor OODD. I would love to meet people who are facing the same types of issues I am. It would be nice to have a mentor. If my story or thoughts on it all, can help another, that would be great.
I know that this genetic condition is never going to be as “sexy” as the other medical issues out there. We will probably never have the bankroll behind us but beyond having the public and media support would be the understanding of the medical profession, government (policy makers) and insurance companies. I would love to have them understand my story and have it make an impact.
What are your dream(s) for Dexter?
My dream for Dex is that he is happy. That’s it. It really is that simple.
I could say that I wish him to be Prime Minster (president for you) but I would not know if that would make him happy. I know he is about to go on a long and painful (physically and emotionally) journey and that it will no doubt shape him into the person he will become. I just want that person to be happy with his life and who he is at his core. If so, then all the other pieces in life will fall in place.