What to expect at a first genetics appointment? - Update

[sweet2ndchance]

UPDATE - So I had asked my doctor some questions and she was able to get back with me today. According to her, I do have Ehlers-Danlos because I fit all the diagnostic criteria and the genetics appointment isn't diagnostic, it is to try an possibly pinpoint which type and find out if there is vascular involvement. Sooo... is this how one is normally diagnosed with Ehlers-Danlos? Just the Beighton tests in the dr's office and the questions? I am still going to go to the geneticist in July, or sooner if they can get me in sooner,. It just seems so.... I don't know, odd maybe?... to be told you have a debilitating condition, and you've had it all your life, after spending 20 minutes with a doctor that you have been seeing for almost the past decade. Granted, due to circumstances, I tend to hold back and not talk about my pain and so much of it I am just now learning that I'm not a whiner as I've been told all my life by multiple people, I actually am in an abnormal amount of pain.... 

 

My doctor is sending me to a genetics specialist this summer (first available appointment was in July, not surprising to me, but I am on the cancellation list). I'm suppose to be tested for genetic markers for EDS. I've already filled out their family history paperwork and turned it in. One of the questions asked if I had any questions and I couldn't think of any. What should I ask a genetic specialist? I have no idea. I tried google but all the information seemed to be aimed toward expectant parents. I'm not expecting lol. I really don't know what a geneticist can and cannot answer as this is one medical specialty I've never had any experience with. What does a genetics appointment for a middle aged woman who is not expecting even look like? Thanks in advance for any insight or tips anyone can give.

Edited March 10, 2020 by sweet2ndchance
update

[leahtalbot96]

I recommend making a list of questions to ask. When exactly is the appointment, like what day in July? Depending on the reason for the referral, the doctor may order tests. This is a simplified guide to what would happen at a first appointment- https://www.gosh.nhs.uk/wards-and-departments/departments/clinical-specialties/clinical-genetics-information-parents-and-visitors/about-your-clinical-genetics-appointment

[Katy]

No clue but we have one coming up for our son so I'm interested in hearing the other responses.  The waiting list is so long.

[PrincessMommy]

My daughter has EDS.  She didn't get it confirmed with genetics.  Do you know if there is an EDS Specialist in your area?    We were also told it would take a LONG time to get genetic testing even with a friend who works in genetics at Johns Hopkins.   So we opted for this other direction instead.   It actually helped because she has a mild form of EDS.  I don't know if genetics can marker mild/severe or whatever.   Before that she had been reading far too much on the internet and scaring herself silly.

I went to the appt with her and I realized she probably got it from me.

 

 

[kbutton]

I am impressed you had family history paperwork. We got some on the spot, but it was basically more of a robust health history.

So, the criteria for all kinds of EDS was revised in the last couple of years, and genetic testing, in general, has become more robust, cheaper, etc. than ever.

Questions directly related to my son's condition (Marfan vs. EDS) were face-to-face. I had researched ahead of time, but that was because *I* was the one highly suspicious he had it or had EDS. 

Do you know if vascular type is on the table? Family history of sudden death, organ rupture, etc. would be part of that history. If you have a personal or family history of lens problems with your eyes, you might need to be tested more broadly than just EDS.

If you are negative for EDS or they assume you have the generalized hypermobility type (the one that they can't ID a gene for--can't remember what they call it now), will they rule out things like Marfan and Loeys-Dietz Syndromes that have overlap with EDS presentation? 

Otherwise, I would ask about follow-ups--whether you need any. I know at one point, everyone with EDS was supposed to get an echo, but now that they have genetic subtypes so nicely categorized, it might only be certain individuals that get echocardiograms since the risk is variable. It's primarily for aneurysm risk, but they may do some cardiac testing if you have POTS type symptoms (tachycardia, etc.).

Other follow-ups: PT, OT (my son has found both useful, but especially PT with someone who understands connective tissue disorders)

If you have pain, fatigue, etc. I would want to know if they have supports for that or can refer you to the right clinicians.

If you have allergies, gut issues, dizziness, tachycardia, etc. I would want to know if they refer out for people familiar with the mystery bog of EDS/POTS/MCAS overlaps.

Expect that you will potentially have measurements taken, checks for things like scoliosis, foot problems, etc. and some "bendy" tests. You might also have students in the room or specialists in other fields that have been invited to cross-train, recognize signs, etc.

https://www.ehlers-danlos.com/eds-types/   This is about types, but the whole site is very worthwhile.

https://www.chronicpainpartners.com/webinars/  Webinars!!! Very good ones.

https://www.marfan.org/about/related-disorders  Things they should be ruling out. Important!!!  If you end up having vascular EDS, this organization is currently working feverishly to embrace and support the vEDS community. The Marfan Foundation is just awesome.

 

 

[sweet2ndchance]

34 minutes ago, leahtalbot96 said:

I recommend making a list of questions to ask. When exactly is the appointment, like what day in July? Depending on the reason for the referral, the doctor may order tests. This is a simplified guide to what would happen at a first appointment- https://www.gosh.nhs.uk/wards-and-departments/departments/clinical-specialties/clinical-genetics-information-parents-and-visitors/about-your-clinical-genetics-appointment

Oh, I have the date and time and everything lol. I just didn't post them for security sake. ;-) That's exactly what I'm wanting to do is make a list to take with me, but I realized that I really have no idea what to ask a geneticist as I've never been to one before for any reason.

30 minutes ago, Katy said:

No clue but we have one coming up for our son so I'm interested in hearing the other responses.  The waiting list is so long.

The receptionist who called me to make the appointment told me that the doctor only sees two EDS patients a week, hence the long wait. But I was expecting a long wait, This hospital is the largest in the area, a university hospital with many specialists. It's not uncommon to wait six months or more for an appointment in any of their clinics. It sucks to have to wait but dh just had brain surgery at this same hospital last year and we really liked how the whole thing was handled and how caring and accommodating everyone was for us. We're hoping that it will remain the same even though I'm going to a completely different dept.

14 minutes ago, PrincessMommy said:

My daughter has EDS.  She didn't get it confirmed with genetics.  Do you know if there is an EDS Specialist in your area?    We were also told it would take a LONG time to get genetic testing even with a friend who works in genetics at Johns Hopkins.   So we opted for this other direction instead.   It actually helped because she has a mild form of EDS.  I don't know if genetics can marker mild/severe or whatever.   Before that she had been reading far too much on the internet and scaring herself silly.

I went to the appt with her and I realized she probably got it from me.

As for the bolded, I have no idea lol. In my immediate area, I can say no with 98% confidence for anywhere within a 90 minute drive. The hospital I'm being sent to is 3 1/2 hours away because they are the closest large hospital with a variety of specialists. I'm thinking that mine will also fall under the category of mild. I definitely meet all the needed criteria for diagnosis that I have found online. I just brought it up with my doctor last week since I met so many of the criteria based on my research, showed her where I could why I met it like the Beighton tests and she suggested a referral to the genetics clinic at the university hospital because she wants to know if I have heart and lung involvement so she knows if I need to be watched for those problems. Fortunately, I'm not really worried about it. For me, it's more of a relief that the joint pain and issues I've had since childhood might actually have a legitimate reason for hurting. Reading about EDS has been more of an "ahh, now I know why that happens" or "I had no idea that everyone couldn't do that" than a scary thing for me.

[sweet2ndchance]

18 minutes ago, kbutton said:

I am impressed you had family history paperwork. We got some on the spot, but it was basically more of a robust health history.

So, the criteria for all kinds of EDS was revised in the last couple of years, and genetic testing, in general, has become more robust, cheaper, etc. than ever.

Questions directly related to my son's condition (Marfan vs. EDS) were face-to-face. I had researched ahead of time, but that was because *I* was the one highly suspicious he had it or had EDS. 

Do you know if vascular type is on the table? Family history of sudden death, organ rupture, etc. would be part of that history. If you have a personal or family history of lens problems with your eyes, you might need to be tested more broadly than just EDS.

If you are negative for EDS or they assume you have the generalized hypermobility type (the one that they can't ID a gene for--can't remember what they call it now), will they rule out things like Marfan and Loeys-Dietz Syndromes that have overlap with EDS presentation? 

Otherwise, I would ask about follow-ups--whether you need any. I know at one point, everyone with EDS was supposed to get an echo, but now that they have genetic subtypes so nicely categorized, it might only be certain individuals that get echocardiograms since the risk is variable. It's primarily for aneurysm risk, but they may do some cardiac testing if you have POTS type symptoms (tachycardia, etc.).

Other follow-ups: PT, OT (my son has found both useful, but especially PT with someone who understands connective tissue disorders)

If you have pain, fatigue, etc. I would want to know if they have supports for that or can refer you to the right clinicians.

If you have allergies, gut issues, dizziness, tachycardia, etc. I would want to know if they refer out for people familiar with the mystery bog of EDS/POTS/MCAS overlaps.

Expect that you will potentially have measurements taken, checks for things like scoliosis, foot problems, etc. and some "bendy" tests. You might also have students in the room or specialists in other fields that have been invited to cross-train, recognize signs, etc.

https://www.ehlers-danlos.com/eds-types/   This is about types, but the whole site is very worthwhile.

https://www.chronicpainpartners.com/webinars/  Webinars!!! Very good ones.

https://www.marfan.org/about/related-disorders  Things they should be ruling out. Important!!!  If you end up having vascular EDS, this organization is currently working feverishly to embrace and support the vEDS community. The Marfan Foundation is just awesome.

My oldest ds's doctor tried to get him testing for Marfan's Syndrome, he definitely fits the tall and very long limbed criteria, but ex-husband wouldn't allow testing to continue because in his opinion I was just making it up.... After doing research on EDS, I can see different things in my other kids too that may point to EDS. I've looked up the newest criteria and I definitely fit enough for diagnosis. 

Hmm, I know my maternal grandmother has glaucoma. I don't know much else about other family members or exact causes of death. Talking to family members isn't really an option, but I have in the past pulled up genealogy information that included death certificates which sometimes gave an exact cause of death so that was somewhat helpful in filling out the paperwork. I don't remember seeing ruptured organs or anything like that.

No idea if vascular is involved or not. That was my PCP's main concern is finding that out.

I do have scoliosis, I have since I was a child. My maternal grandfather had it and my oldest son has it as well, all of which were noted on the family history they asked for. Should I take the MRI of my back taken about 2 years ago I think? The hospital it was taken at is a local one and even my PCP has had issue getting those images from them. But I should be able to walk out with the images on a disc and hand carry the to the genetics appointment if it would be helpful.

Yup, pain, fatigue, gut issues, foot issues, multiple anaphylactic allergies, sensory issues, autism traits (which I've read several places that HFA and EDS can be comorbid, especially in women), tachycardia but not constant it seems to come and go....

Thanks for all the information! It really does help. ;-)

[kbutton]

1 hour ago, sweet2ndchance said:

My oldest ds's doctor tried to get him testing for Marfan's Syndrome, he definitely fits the tall and very long limbed criteria, but ex-husband wouldn't allow testing to continue because in his opinion I was just making it up.

Talking to family members isn't really an option, but I have in the past pulled up genealogy information that included death certificates which sometimes gave an exact cause of death so that was somewhat helpful in filling out the paperwork. I don't remember seeing ruptured organs or anything like that.

No idea if vascular is involved or not. That was my PCP's main concern is finding that out.

I do have scoliosis, I have since I was a child. My maternal grandfather had it and my oldest son has it as well, all of which were noted on the family history they asked for. Should I take the MRI of my back taken about 2 years ago I think? The hospital it was taken at is a local one and even my PCP has had issue getting those images from them. But I should be able to walk out with the images on a disc and hand carry the to the genetics appointment if it would be helpful.

Yup, pain, fatigue, gut issues, foot issues, multiple anaphylactic allergies, sensory issues, autism traits (which I've read several places that HFA and EDS can be comorbid, especially in women), tachycardia but not constant it seems to come and go....

You sound like a shoe-in for EDS! 

I am glad your doctor is concerned about ruling in/out the vascular stuff. 

Yes, take your MRI and anything else you have--if you'd have PT or orthotics or anything since you have time to gather it. My son's geneticist wanted anything and everything if we were willing to bring it--eye information, OT/PT, speech stuff (he has apraxia that seems to be related to the hypermobility in his jaw).

I hope this opens the door to your family members getting diagnosed, as appropriate. It's not unusual for people with some types of EDS to have a "marfanoid habitus"--just be sure that if the genetic testing doesn't come back with a subtype, you feel like it's really EDS and not Marfan. 

[Farrar]

When my friend had her first appointment after testing, they fed her stuff. Like, a light meal. But it may have had to do with the diagnosis... or the specific genetic stuff that she was dealing with, which apparently has some nutritional tie ins. It was with the genetic counselor. I just remember because I was so surprised. She was too. She said she was like, ooh, nice food. I think it distracted her from the bad news of, oh, wait, I have a what percent chance of that now.

[KungFuPanda]

Mine was, "We're going to draw some blood to see if you are a carrier for this disease." Then they send it off to the lab, test my DNA, get the results, and bring me in to explain that I was not a carrier.   If I had been, I imagine the follow-up would have explained the next steps to managing my health.

[sweet2ndchance]

3 hours ago, kbutton said:

speech stuff (he has apraxia that seems to be related to the hypermobility in his jaw).

So very interesting. My youngest son has childhood apraxia as well. I'm glad I put that on the history as well as his dysphagia as an infant and toddler even though it seemed unrelated.

[kbutton]

I really wish nurses/docs/lactation consultants were more aware of this. Sigh.

[sweet2ndchance]

Despite being small for my age as a child and looking like a stiff wind might blow me away, I was never athletically inclined because everything hurt! Hitting a ball with a bat sent pain all the way up my arm to my shoulder. Running and kicking made my feet and ankles hurt. I always came in last running the mile and everything hurt afterwards! I was told by my parents and teachers to stop whining, if it didn't hurt then I wasn't trying hard enough.... I never realized until recently that I shouldn't feel miserable after these activities, just a little sore maybe. My parents weren't keen on taking us to the doctor unless we were possibly dying or someone might call CPS on them if they didn't. By the time I was an adult, they had me convinced that I was just a whiner and had no pain tolerance so I didn't mention to doctors how much simple things really hurt.

When it got to the point that I couldn't use my hands and I was on verge of tears from unexplained pain, I was diagnosed with early onset arthritis. I'm on the highest dose of Meloxicam and it keeps the pain from being tear inducing but it doesn't take it away entirely. My first labor was 6 hours, start to finish. All of my subsequent labors were less than 4 hours with the shortest one being 90 minutes. I have a son who looks like he could be the poster child for Marfans syndrome, another son who breaks bones if you look at him funny, a daughter who frequently subluxates her knees, another son with dysphasia, apraxia, sensory issues and more..... It's like so many seemingly unrelated things are just pieces of a larger puzzle. It really is frustrating that no one put all these things together before now.

[kbutton]

I am really glad you're getting answers! We have some of those things in the family, but so far, only my son has had a CTD diagnosis (and none of us have Marfan in spite of some people having heart issues identical to Marfan--it's weird!). It was always a "thing" in our family to enjoy moving when you're young because...knees, etc. later. And "Old Arthur" (arthritis), so no one was made to feel bad about their aches and pains.

My DH's family is also full of bendy people, some of whom have a lot of pain too. My SIL needs a doctor that will put the pieces together for her.

[sweet2ndchance]

bump for update

[Junie]

Hugs to you, OP.

I do think it's strange that you have seen this doctor many times and are just now getting diagnosed.

Years ago, one of my daughters was referred to genetics.  The geneticist met us at the door to the exam room and immediately announced, "Your daughter has Noonan Syndrome.  And you have it, too."

What a way to start an appointment.  She had looked at my daughter's chart and then looked at our faces and immediately had enough information to make a diagnosis.  A DNA test was done and proved that she was correct in her diagnosis.

I agree with you that finding out so late that you were born with a genetic birth defect is really jarring.  I think it took me longer to come to grips with my own diagnosis that my daughter's.

And as I reflected on certain things, so much of my childhood became clearer.  Why I didn't look like my siblings.  Why I tired so easily.   Why certain tasks were difficult for me.

I hope that you get good answers as you go to see the geneticist.

[PrincessMommy]

On 3/5/2020 at 2:41 PM, sweet2ndchance said:

UPDATE - So I had asked my doctor some questions and she was able to get back with me today. According to her, I do have Ehlers-Danlos because I fit all the diagnostic criteria and the genetics appointment isn't diagnostic, it is to try an possibly pinpoint which type and find out if there is vascular involvement. Sooo... is this how one is normally diagnosed with Ehlers-Danlos? Just the Beighton tests in the dr's office and the questions? I am still going to go to the geneticist in July, or sooner if they can get me in sooner,. It just seems so.... I don't know, odd maybe?... to be told you have a debilitating condition, and you've had it all your life, after spending 20 minutes with a doctor that you have been seeing for almost the past decade. Granted, due to circumstances, I tend to hold back and not talk about my pain and so much of it I am just now learning that I'm not a whiner as I've been told all my life by multiple people, I actually am in an abnormal amount of pain.... 

 

 

I can only speak from our experience that yes, the diagnostic test was how my daughter was dx with EDS.  Actually, it was quite helpful because she had gotten herself into a panic that she somehow had the worst type of EDS from reading too much online.  She actually has a mild-moderate form of EDS given her actual symptoms.   The dr. did not recommend genetic testing.

[kbutton]

There are two kinds of diagnosis for most things in life: clinical or confirmed by testing. Sometimes tests miss people; sometimes clinical diagnosis misses people. It's good you have an opportunity to find out if you have vascular involvement. 

I hope the diagnosis opens treatment doors. I am sorry that you've not been able to speak freely about your lifelong bodily reality.