Concerning email from Embark DNA/Genetic Health Testing. Anyone please help me understand bc I’m scared. *not immediately life threatening

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angelbaby35

New member
I received this email from Embark in regards to my dog Theo, who is approximately 3 years old 50 lbs (he is a rescue so I do not know what kind of dog he is, yet, hence the DNA test) It is scaring me because I don’t exactly know what to do. I am not sure if this is something I should immediately make a Vet appointment for and look into further (which is what I am probably going to do) I am just freaking out a bit bc my dog is all I have in this world and I will do whatever it takes to help him be healthy and happy.

I am turning to Reddit bc it’s Friday night at 9 and I need to calm down and make a plan. Any advice would be greatly appreciated. Even if I am posting in the wrong subreddit please tell me where to post.

I’m sorry for the length but I’m copying and pasting the email directly. Cliff notes at the bottom.

Here is the email:

My name is Dr. Kari Cueva, and I am a Veterinary Geneticist on the Embark team. As a clinical veterinarian, I understand how important our genetic health testing is to the well being of Theodore P. Chatburn. I know that you have been awaiting Theodore P. Chatburn's health results, and I can assure you that they are about to be finalized.

I am reaching out to you today to let you know that while Theodore P. Chatburn does not have risk from most of the genetic variants that we test for, he does have genetic variants associated with the following health condition: Chondrodystrophy and Intervertebral Disc Disease, CDDY/IVDD, Type I IVDD. Please keep in mind while reading these results that this is not a medical diagnosis. We recommend you provide Theodore P. Chatburn’s Embark results to your veterinarian. Theodore P. Chatburn's full health results will be available in their profile within 48 hours, where you can email, download, or print Theodore P. Chatburn's Veterinary Report.

Chondrodystrophy and Intervertebral Disc Disease, CDDY/IVDD, Type I IVDD
Theodore P. Chatburn has 1 copy of a risk variant associated with this condition.

What does this result mean?
Our research indicates that this genetic variant is likely to increase the risk that Theodore P. Chatburn will develop this disease.

What is Chondrodystrophy and Intervertebral Disc Disease, CDDY/IVDD, Type I IVDD?
Type I Intervertebral Disc Disease (IVDD) is a back/spine issue that refers to a health condition affecting the discs that act as cushions between vertebrae. With Type I IVDD, affected dogs can have a disc event where it ruptures or herniates towards the spinal cord. This pressure on the spinal cord causes neurologic signs which can range from a wobbly gait to impairment of movement. Chondrodystrophy (CDDY) refers to the relative proportion between a dog’s legs and body, wherein the legs are shorter and the body longer. There are multiple different variants that can cause a markedly chondrodystrophic appearance as observed in Dachshunds and Corgis. However, this particular variant is the only one known to also increase the risk for IVDD.

How do I know if my dog will develop this health condition?
Research indicates that dogs with one or two copies of this variant have a similar risk of developing IVDD. However, there are some breeds (e.g. Beagles and Cocker Spaniels, among others) where this variant has been passed down to nearly all dogs of the breed and most do not show overt clinical signs of the disorder. This suggests that there are other genetic and environmental factors (such as weight, mobility, and family history) that contribute to an individual dog’s risk of developing clinical IVDD. Signs of IVDD include neck or back pain, a change in your dog's walking pattern (including dragging of the hind limbs), and paralysis. These signs can be mild to severe, and if your dog starts exhibiting these signs, you should schedule an appointment with your veterinarian for a diagnosis.

CLIFF NOTES:
DNA/GENETIC TEST shows my dog has 1 copy of a risk variant associated with this condition is at high risk for Chondrodystrophy and Intervertebral Disc Disease, CDDY/IVDD, Type I IVDD

If you have read this far I want to thank you, if you have any suggestions or can help calm me down, but still telling me the truth, I would be very grateful.
 
@angelbaby35 A few thoughts:
  • based on this email “Chondrodystrophy” is not a disease but rather just a structural trait. It means your dog’s genetics make it likely that their back will be longer and their legs shorter - like a corgi or dashhund. If your dog is grown already, their shape isn’t going to change.
  • They mentioned the CDDY gene because this specific gene causing that structure also causes an increased risk of IVDD, which is a disease / disorder as described. Just because your dog has an increased risk of this doesn’t mean they will ever actually develop it. An increased risk sometimes just means they have say a 5% chance of getting it rather than a 1% chance. A few breeds overall have increased risk of IVDD and many don’t ever get it.
  • IVDD, from what I understand, isn’t a death sentence. If it manifests, there are things you can do to lesson the impact on your dogs life, though I do think some of it is random - so if it ever doesn’t happen and causes more severe symptoms, don’t blame yourself.
  • Now that you know your dog is at increased risk, you can learn the signs and intervene early. Early intervention can only help! You can do fitness training to help your dog be strong, which can help with recovery if they do have a disc event. You can also learn whether there are any things you can do to lower risk, like using ramps rather than jumping in furniture.
  • If your dog doesn’t have any symptoms now, then they probably don’t have a problem now! So if you weren’t worried about their health before, know that this doesn’t mean they definitely have an active problem that you didn’t notice. If there’s no symptoms, they probably don’t currently have active IVDD!
 
This is a helpful page: https://www.vscvets.com/surgery/neurology-conditions/intervertebral-disc-disease-ivdd

It says in 90% of cases where type 1 IVDD actually happens, the dog can fully recover with rapid surgery. “Actually happens” means the dog has an acute disc herniation. Aka a slipped disc

So actions you can take to prepare for the worst would be identifying an emergency vet that could do spinal surgery if needed and saving up enough money for surgery (would save ~$10k for that).
 
@essell That’s a good idea. I absolutely plan to do this, I didn’t think of this specifically so thank you for the good insight. I really appreciate your response. Thank you.
 
@essell I can’t express enough gratitude for your response. It’s hard trying to narrow it down googling it, bc I had no idea what I was googling. Thank you so much for breaking it down like that. Embark should really be more like that.

I have not noticed any issues but he is only approximately 3 years old, not sure if that means anything just thinking it may be more likely something that can increase in chance with age? Anyways I really can’t thank you enough for this response. I plan on getting on top of it and doing every preventive measure the vet / research teaches me. I love my boy and want to give him the best life I can.
 
@angelbaby35 As an owner of a large breed dog with IVDD (surgically repaired) I will tell you prevention is key. No jumping off high surfaces, careful with rough housing, and supplement with glucosamine if you can. Keep weight manageable and crate train in case he needs to go on crate rest. Really, the most important thing you can do is be aware of the signs of IVDD. If it starts happening, action will need to be taken right away or it can lead to paralysis. The other suggestion of starting a savings account is a great one. My girl is about 80 pounds, but for the surgical intervention and subsequent therapies, our bill was about $15,000. No relapses though!
 
@linda7050 Wow. I would give every cent I have if it came to it. I appreciate the information, very helpful. Thank you

Everyone has been super helpful on here, I didn’t expect all these responses. I’m so grateful for these answers. Thank you all
 
@angelbaby35 don’t really have any advice other than talking to vet about findings, just sharing my experience with IVDD.

My dog is only 4 with IVDD. He’s had it for about 2 years now. It has flare up wheee I notice his behavior changes, no eating, no going to the bathroom, hiding under the bed, won’t look my way when called. Etc. he takes rimadyl, gabapentin, and tramadol when he has flare ups and usually after the 2nd dose of meds he’s feeling fine but still needs to be less active and on rest for about 2 weeks. He has steps for the bed and couch and raised bowls, he doesn’t wear a collar unless we are traveling and only where’s a harness for walks, and such.
 
@sweetsunday Any advice is appreciated. I’m sorry to hear that.

So you are able to clearly tell that something is wrong with him when it flares up? Is he almost able to not walk ? How often does it flare up?
 
@angelbaby35 Like 2-3 times a year he’ll have a flare up. Last year he had one so bad I had to take him to a neurology specialist, despite medication he wasn’t getting better. Tripping over his toes, his paw would be tucked under and he wouldn’t even notice. Wobbling when lifting leg to pee. But he did eventually start to get better after the neuro visit.

Yes. Like I said, no eating, not wanting to go outside, won’t look my way when called. And hiding is a big one as he has free range of the house, he’ll shake sometimes. When I even think something is wrong I’ll check his proprioception of limbs and Range of motion of his neck. If he doesn’t let me gently push his head down and yelps, it’s time for meds. I don’t take him to the vet for flare ups unless his symptoms are not being relieved or getting worse. I usually just call and request prescriptions for the meds. So far the 25mg rimadyl once a day, 100mg gabapentin three times a day, and 25mg tramadol twice a day is working great. They said at some point they might add methocarbamol to the mix which is a muscle relaxer. They tried prednisone with his first flare up and that turned him into a literal shit fountain so I got it switched. He takes all those meds and is a bit sedated for a couple days and he’s only 15lbs. But rest is very important. Sometimes I’ll have to do crate rest for a while (which I’ll usually only do that when I’m at work so I know he doesn’t do weird things that can’t be supervised.)
 
@angelbaby35 I work as a health risk assessor for a living, and I have degrees in animal physiology, public health and toxicology.

Please know that this email does not mean there is anything currently wrong with your pup. Genetic markers do not mean your dog currently has, or will ever develop this disease.

This is a similar situation to a human learning they have the BRCA genetic marker. It doesn’t mean that person currently has breast cancer, or will 100% develop it. It means there is a higher chance than someone in the general population, so that person would require more regular screening and checkups to monitor the situation.

Given that your pup is quite young, I would say odds of them already having this condition are quite low. Make an appointment and take the results to your vet. With the knowledge of what to look out for, your vet can keep an eye on your pup over time to watch for this condition.

You could even consider it a blessing you had the foresight to get the testing, because now, equipped with this knowledge, you can catch the condition early and hopefully treat it early if it does develop. But it might never happen, that’s the thing about a risk, it’s never for sure, just a maybe.

There really is no need to immediately panic, but do follow up with the vet for an in person physical exam as that’s the only way to get a true diagnosis. The email does have good advice about controlling environment in that, since you now know your pup is potentially at risk, your vet may be able to suggest supplements or medications to reduce risk or suggest that you don’t let your dog jump from heights, walk up and down stairs, etc.

You did right by your dog getting the test. Just remember a risk isn’t a certainty, but knowing about it gives you the knowledge to react quickly in the best possible way.
 
@vova I take comfort in your reply. Of course my mind immediately goes to the worst case scenario and im all the sudden scared to throw the ball with him.

I appreciate your reply and absolutely plan to see a vet and do everything in my power to educate myself and controlling his environment like you stated. I plan to do everything I can just incase. He is neutered so he won’t have any offspring. I’m trying to stay positive but regardless no one who loves their dog wants to see something like this.

After sitting back and being scared/upset I realize that this was the reason I did the genetic test in the first place. This is the kind of thing I would prefer to know and prepare for, rather than it showing up later in his life and blaming myself for things I could have done differently.

Thank you for helping calm me down, I was nervous to log back on here, even knowing everyone is providing me excellent information, I’m still fighting back tears at the thought of anything happening to my boy.
 
@angelbaby35 Pet health insurance is something to think about. My dog needed major surgery to save his life last year, and the cost of multiple vet visits, specialist vets, MRI/CT scan/surgery added up to over $10,000. Our pet insurance covered 90%, and I’m very happy to say that my good boy is better than ever. Do your research. Some pet insurance companies have annual caps, for example. Premiums increase as your dog ages. But it’s a huge relief to know that money won’t be the overriding issue if your good boy or girl needs expensive care.
 
@jmacdona2 I’m happy to hear your boy is doing well. That is a great idea and I absolutely plan on getting pet insurance. I would empty my bank for him without a second thought, but having pet insurance and preparation just incase will help me sleep better at night.

Thank you
 
@angelbaby35 If you go the health insurance route do it before you communicate the DNA results to your vet. Any record in the notes of him having this gene could make it a pre-existing condition and then they won't cover anything.
 
@angelbaby35 Keep in mind that some (most?) insurances evaluate based on date of first symptoms, not date of vet visit. So assuming they count the dna test as a “symptom” of IVDD (which is likely), they could still count it as a pre existing condition if they see the date of that dna test is before the end of the waiting period.
 
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