Advice about getting diagnosis for rare genetic condition in Switzerland

Family, Education, Health and Pets
1
Hi,

We are a Swiss family in NZ and we have just discovered that our kids might have a rare genetic condition - I have put 2 and 2 together from all the symptoms they have and what I myself have experienced, but never had diagnosed as we didn't know it existed!

Now that I am aware of it, I am wanting to get it diagnosed officially so we can have access to medical support for them as it will require regular checkups of their hearts/general health etc... in the future if it is confirmed.

My question is - should I pursue a diagnosis here in NZ (it could take a while, because the public health system is very slow and it could also cost quite a bit, as the healthcare system is very basic and quite far behind Switzerland in quality and availability)

Or should I wait until we are back in Switzerland to do it there? (I trust the medical establishment and quality in Switzerland a lot more than here!)

What would be the benefits/negatives of getting a diagnosis for the medical condition before arriving?

If we waited till we got there, would we still be able to get complimentary health insurance and therefore still be able to use that for the condition if it was diagnosed only afterwards? Or would it automatically be excluded?

I am guessing that if it is diagnosed before we arrive, that the condition would be automatically excluded from eligibility for any complimentary health insurance - we would get the basic cover for it though right?

Does anyone have any experience being referred for genetic testing in Switzerland - does it cost a lot to get done even through basic insurance?

Any advice or helpful thoughts would be appreciated.

Have any of you got kids who have genetic diseases? How are they being looked after by the health system in Switzerland? Is it considered a disability straight away or is that only for certain illnesses?

Thanks for your help! :-)

2
When are you planing to come back?

3
Be careful about self-diagnosing... I am not saying it's not true, but at the same time you are clearly not a doctor so don't jump the gun and self-diagnose your kid with something serious before you know the facts. In CH the amount it will cost you to treat a fundamental health problem is however much your franchise excess is. You can change that to the lowest 300chf excess at any time when you are allowed to change your policy. If you are talking about a rare genetic disorder affecting your childs health I do not see how that would need "complimentary insurance" to be covered unless the treatments required are somehow superficial and not covered under your main health insurance.

Also, considering no-one knows when you are planning to come back here, or if you even live here or not (because you have provided almost no useful info relevant to your living situation and your location says outside CH) it's hard to say which is better for you. However it makes more sense to do it where you actually live, if time is not of the essence. In future, maybe take a few deep breaths and write a calmer and more informative post.

4
I can't comment on the health insurance element of this discussion, as I don't know enough about it, but I do work in the area of rare genetic diseases. By their very nature there tends to be a low level of awareness amongst healthcare professional, so regardless of the healthcare system (Swiss or NZ) there are likely to be individuals or centres of excellence that specialise in those diseases.

The issue that often occurs is the delay to diagnosis, as there is a low awareness, rare diseases can appear to be other things and due to that, a multitude of specialists could be involved. Delay in diagnosis can also lead to poorer outcomes as damage could be happening while the patients seem largely asymptomatic.

In the areas that I work in a diagnosis is relatively simple and inexpensive, but only if the specialist suspects the disease in the first place. Where the costs come in is in treatment. Due to the small number of patients associated with rare diseases the cost of treatment is usually extremely high.

So I don't know the impact to the Swiss health insurance from a positive diagnosis, but I would probably want to start identifying experts in both NZ and CH and would probably want to start that process sooner rather than later.

5
I would have a look at what complimentary insurance actually provides, or conversely what the basic insurance wouldn’t provide in your case.

I seriously doubt an insurance company would deny things like dental for an unrelated genetic condition.

6
Hi Nick!

Interesting that you work in the area - our general doctor suspects Marfans syndrome and was suggesting getting tested for it -but there are a few things (in my opinion from reading a LOT of research about it) that don’t line up with that at as my kids symptoms match much better with Loey-Dietz syndrome - have you heard of it? They have MANY of the indicators. Do you know if there is any awareness of it in Switzerland at all? It was only identified in 2005?

7
Unfortunately I do not know about these disorders, so can't comment on them. If you feel that you could do with some additional support, I have experienced the incredible work that patient advocacy groups do for patients. They are an incredible resource, can provide you support and can (likely) point you in the right direction for a diagnosis.

I would definitely start identifying these groups and start reaching out. There will likely be local, regional and global groups.

I wish you the best of luck with your journey.

8
Having quickly read through the list of possible symptoms for those problems I'm amazed you're even thinking of delaying the diagnosis for what are potentially life-threatening genetic illnesses.

Start the process now, worry about the monetary costs later.

9
Angela,

I understand your concern at why I would potentially wait - but there are lots of factors at play and it’s not as cut and dry as that about the decision making - the way the system works here we could potentially be on a waiting list for testing for MONTHS anyway so I’m weighing up whether just coming back to Switzerland earlier is a better option.

2 out of 4 of our kids also have ADHD/Autism and that complicates things as well because my son was just rejected for support services / care here in NZ despite him having the exact same diagnosis letter from the paediatrician as my daughter - simply because the doctor wrote in his referral that Noa “was very well behaved in the appointment and cooperative” which for whatever reason in his opinion seems to rule out that he actually needs any help! (Don’t even get ne started on this- it’s crazy and very frustrating here in NZ as far as perception and available support services - contrary to what they claim online) -

10
Part of my hesitancy to get it diagnosed here is our lack of trust in the medical competency here in NZ compared to Switzerland after having many negative experiences that have shaken our confidence in the system and quality/level of care here.

I could list them all but that would take too long!

11
Dear rachvdg,

I am really sorry for what you are going through... and I guess that with the move the stress might be very high. Don’t forget to think about yourself.

Whatever your decision on the diagnosis place, my suggestion is that you get an official letter from the doctors/hospital you have been seeing so far describing the condition and the tests that have been done. My experience here is that this helps in getting “listened to”.

12
Dear rachvdg, we went through tests for Marfans at the Institut für Medizinische Genetik and the university hospital of Zürich. They were excellent and understanding throughout and had exceptional knowledge of Marfan Syndrome. It's far easier to test these days and there's actually a genetic test which should give a straight forward result. It's more often than not hereditary so if there's no history of it in the family then it's less likely to be Marfans.

Another genetic disorder that has many of the same symptoms to Marfans is Ehlers-Danlos syndrome. This can manifest itself in many different ways and is often mistaken for Marfans.

13
Hi Tony!

Thanks for the helpful information - what you mentioned about it being hereditary - yes that’s is why I am not thinking it is Marfans but more likely loey-dietz as it can spontaneously arise in 75% of cases during embryonic development in the womb. Apparently many times loeys-dietz has been misdiagnosed as Marfans up till more recently when it was able to be distinguished

14
Quick google search says Marfans can be diagnosed with a specialised blood test.

Does the diagnosis change the treatment ? Have you been able to get a referral to a genetic counsellor ? Has the doctor requested genetic testing (did you agree?).

It sounds like you have a lot on your plate. I can emphathise as my three kids also have complex medical/neurodevelopmental differences...

At the end of the day, you know your kids better than anyone and will advocate for them - something I learnt early is that the medical system does not actually advocate for you. They treat specific illness, they don't really plan ahead or look at the broad picture. That's your job as the parent.

There are levels of intervention and care, but there are no 'cures' for the conditions you have mentioned - part of the road is knowing when to get help/intervention, and when to let it be and get on with life...

My kids therapist/psychologist was helpful with this - she said basically if they are on an upward spiral, you are on the right track, and if you are on a downward spiral then it's time to get more support.

The support may also be for you rather than directly for your kid - you are your children's firm foundation...

I can absolutely relate to deep mistrust of doctors/medical system - it's a system, not a single thing - and it's OK to keep fighting on until you get the support...

On the other hand - my daughter has a card that says 'Don't spend so much worrying about your kids being good that you forget you have great kids right in front of you' - as in - positive love and acceptance, and highlighting the positive, goes a very long way.

As a mum of a child with a life-threatening chronic medical condition, I would say that burnout is common and some days/months/years are easier than others. It's our job to deal with the 'what-ifs' and try to keep our kids as happy, healthy and connected to real life as possible.

Have you or your husband been also assessed and processed the fact that you may or may not carry genes for your children's conditions ? - that's where a genetic counsellor can also be helpful - some of our family members struggle with this sense of 'guilt' for passing on faulty genes (one grandparent in particular) and from my point of view it's a really unhealthy and unhelpful discussion - it does not change anything but seems to be a recurring 'tune' that he can't get out of his head...

Wikipedia says 25% of Marfans arises from spontaneous genetics, so that's pretty high - and even if you were carriers, the recommended approach would be to speak to a genetic counsellor if you were planning to have more children, but otherwise, it makes zero difference if you are carriers or not (unless there is some medical check that should be done for your own health)....

Another baseline question is - does it really matter if the specific diagnosis is x or y ? Will it change your child's health or treatment plan ? The two conditions you have mentioned are crossovers anyway (as is Ehlers-Danlos).... and the scoring is so individualised that diagnosis is really a matter of degree of impairment of various systems. And this varies greatly from person to person. It's not really 'one condition' - it impacts each person 'my Marfans is like x, but yours may be like y'....

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5721110/

This article points out the key differential as being "hypertelorism (increased width between eyes), abnormal uvula (wide or with two parts), and cleft palate ....also craniostynosis (skull bones closed too early), clubfoot, joint contractures and cervical spine instability - that sounds quite severe - was your son born with any of these conditions ?

Again, testing will be for one of the known LDS genes.

And the same treatment - monitoring the aorta/heart/blood pressure is needed for both. -- CT - MRI - Echocardiogram.

Also cutaneous features (skin) - poor wound healing, thin, translucent skin with visible veins. - are noted for LDS and EDS, but not MFS.

There is an eye condition - ectopia lentis - which affects MFS but not LDS.

Have his eyes been checked ? It's a serious of tests of the eyes that need to be done.

Basically, you're waiting for genetic testing. If the NZ system is like Australia then you have the option of waiting for it to be done for free (but with a long waiting list) or paying for it to be done privately. Does diagnosis change treatment ? How old is your son ?

I would highly recommend talking to a support/information service that is specific to MFS and getting advice from there about how to speed up diagnosis and ensure appropriate treatment.

https://dermnetnz.org/topics/marfan-syndrome/

This says there is no specific treatment, just regular review to check for any symptoms and life expectancy is similar to rest of population with this regular checking and appropriate treatment if symptoms arise.

MARFANS

Prevalence 1:5000 - 1:10,000 for

1/4 genetics arise spontanously the other 3/4 is inherited

LOEYS

Prevalence: less than 1:100,000

EHLERS DANLOS

Prevalence similar to Marfans.

Based purely on prevalence, first test would be for Marfans, and if that does not come back positive, then they would check for LOEYS and possibly EDS.

I have an interest in childhood conditions and a qualification in medical terminology. If any of the medical terms I've listed or you are finding in the literature don't make sense, then this is where a genetic counsellor can help (can you tell I'm a big fan!) - they will bring out all the diagnostics, statistics and terms, and are trained to then apply them to your situation and help you to understand/decode/comprehend the information and apply it to real life.

Something that doctors often struggle to do

And yes, if it was my child, based on the basics that I found today, I would:

1. Request genetic testing of my child to confirm the proposed diagnosis for Marfans.

2. Contact a support group for marfans in the local area or online, and start to talk to other parents about how to best support my child and family.

3. Request a referral to a genetic counsellor who can explain the condition, implications of diagnosis and benefits/disadvantages of genetic testing.

It is also possible to have very mild marfans symptoms, so in that case it may be suggested for parents to be tested (or at least have their heart checked).... again, I would talk to the genetic counsellor, and possibly your family doctor to see if they recommend testing the parents and other children as well...

15
If you plan to come back to CH anyway, and if it's only question if it makes sense to do it sooner, my vote goes to yes. Since your peace of mind of trusting the system, diagnosis, future procedure is probably more worth than cost that comes from early return.

Finding a doc and a group you trust and can get information from in a timely manner is really important. And if your heart is set on CH, then compare in which timeframe you can come back vs how long it takes to get the diagnosis in AUS.

You know those timeframes, we don't, so we cannot share our opinion on that. However, I have a feeling that decision where to pursue the diagnosis depends on those answers.

In short, I'd stop a bit, catch a breath and draw a timeline of 'expected diagnosis in AUS' vs 'expected diagnosis in CH', taking into the account the move preparation, finding groups and what not. And then pick the faster to start with, you can always continue to work on your move back to CH while process for diagnosing in AUS is set in motion and just do whatever comes first.

So, example, if your planned move was to come back in 2 years from now, and with this diagnosing topic you are able to push it sooner to like in next 2-3 months, then by rule of thumb guesswork it seems better to push the move ASAP.

However, if your move can't happen for a year (but it's still sooner than previously planned 2 years) and AUS diagnose can happen in 6-9 months, then it definitely makes sense to pursue AUS diagnose, and earlier move, and the difference will be that you'll have the diagnose when you come back to the system you trust, which isn't a bad thing, since all those results are useful anyway. And if there's a disagreement with diagnose or something new develops, CH docs will have historic values that might come in handy. Plus genetic stuff doesn't change

Above all, remember to breathe, take a break, play with kids and leave the medical procedures out of the door, for the sake of sanity and wellbeing of all family members. The road you're on is not easy one, and important is to be conservative with the energy and do replenish it often. You don't want to burn out. Hugs to you all and good luck with getting the correct diagnosis and treatment fast

16
https://bpac.org.nz/bpj/2012/october/genetic.aspx

Genetic Testing System New Zealand

17
Hi Everyone!

So helpful thank you. (Especially SwissPea - thanks for the in depth reply!)

As you can imagine like SwissPea said - being a mom to 4 kids each with their own health issues means my mind is often racing all the time trying to keep on top of things and figure out what is going on and work with their needs - It has been exhausting and like she said - it's like facing burnout every day. I have to work on being very kind to myself and accepting of the situation we are in regularly - my kids are each awesome in their own ways and they are a joy to witness growing up and making the best of their lives! :-)

But it has been a rather overwhelming/exhausting journey and as I learn of each new thing I have to adapt and change the approach and also figure out what to do and who to prioritise etc.

I am a nutritional therapist, although I haven't worked for the past couple of years due to being so busy with family life, and have been working with them from a holistic perspective from the beginning, although lately not as much as I would have liked due to all the crazy life things we have gone through in the past couple of years...

(Moved to Australia, lived there for 2 years, accidentally bought a former drug house (long story!) - spent 2 years renovating, then the kids got diagnosed with ADHD/Autism while we were there, and then found out the kids weren't eligible for any government support for their disabilities because we are New Zealanders - so we sold the house and moved back to NZ in March this year in the hopes the kids could get help here for ADHD/ASD as we technically would qualify because we are NZ'ers - BUT we have found out since coming home that the system is sooo outdated, there is hardly any support and everyone is struggling to get help for their kids and there are very little services available. So it has been rather depressing here in NZ, to say the least. Then to find out there is more to the story than just ASD/ADHD has been a bit overwhelming.

I always wondered what has caused all of the health issues, as it hadn't made sense up till now. At least I am comfortable with all the medical terminology, because of my own background and job and research around the disorders - now that I know what I am looking at - it all makes sense!

My husband and I will also look at getting tested as well if need be once we are back in Switzerland, since we have some symptoms which I had never put together with anything else until I came across the Loey-Dietz syndrome.

Based on all our symptoms individually and together it seems much more likely (I know statistically it's not though) that it's Loey-Dietz rather than Marfans, as we have had many of the characteristics that are unique to that within our kids and myself, but that aren't present with Marfans. These are all things that seemed unrelated and were treated as such by doctors but now I am seeing all the connections and finally figuring out the potential underlying problem!

In our immediate family, amongst the 6 of us, we have had hyperjoint mobility, club foot, hernias, severe strabismus, severe myopia, transluscent skin, dental hyperplasia and teeth anomalies and overcrowding, small jaws, joint problems and pain due to overflexible and undeflexible joints, severe food allergies and digestive problems, heart sensitivities to medications (only found out recently!), very tall/skinny growth, including toes/fingers in my kids) easy bruising, velvety skin texture, headaches and migraines, hormone problems, etc... the actual detailed list is even longer!

But I am so grateful that it is all starting to make sense finally!

And posting and asking the questions on here the other day has spurred me to listen to my gut instincts more and not just think its "too hard or complicated to move again"...

So....after lots of discussion the past couple of days, we have decided to definitely come back to Switzerland (Made the decision yesterday with my husband!! YAY!!) as soon as possible!!

Hoping to be there by July at this point - that's the earliest we can get there.

But at least it's earlier than any health appointments we would ever be able to get here in the meantime. So it's worth it!

Part of the stress of figuring out what to do obviously is finding a place to live and my husband having to suddenly change jobs - all of which adds to the already stressful situation - BUT I agree that I think the overall situation with us trusting the medical system in Switzerland, having access to better care for the kids for the future etc... will make it all worth it and to be honest, I have been wanting to move back to Switzerland for ages, but my husband has been so reluctant due to his job that he loves here...but he has come around when he has seen what is available there in his field yesterday, and its given him hope.

So all of this happening has been the kick up the bum we finally need to get us moving back I think!

Thanks everyone!!

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18
Go slow and take care. Moving is a huge leap and a very expensive one!

Also, I assume your kids all have their Swiss citizenships ?

When you hit the ground, reach out and I'm more than happy to help out if there's anything I can do - drop in supplies, hang out with the kids...

My husband is a primary school teacher (Montessori) and we love board gaming.... we find it's quite a good way to socialise - it can be challenging for kids with ASD/ADHD but it's also a good way to get those executive functions exercising!

19
Hi Swispea!

Thanks for reaching out :-) If we are ever up in the Zurich area we will definitely reach out - we will be moving back to the Vaud area :-)

Yes all our kids have citizenships, but our youngest's swiss passport expired while we were still in Australia so we will have to get that renewed before we travel. We couldnt in Australia because the borders were closed and we couldnt get to the embassy in Sydney to update it all. Now in NZ at least we can do that.

But yes - moving is a huge job, but for some reason I am a bit immune to it, my family were expats when I was growing up as a kid and I've moved way too many times - I find it almost cathartic being able to clear out all the junk each time ;-)

I'm just lucky my husband enjoys filling out all the crazy paperwork online involved in every move as he has a head for detail, while I am the one that gets all the packing and everything else done - its almost like a well oiled machine by now!

But I'm excited to finally not be moving again once we get back to Switzerland - thats it for me finally! Looking forward to settling us all back in to normal life ;-)

20
Luckily while we have been here we have started the braces process for our eldest - and thankfully because my mother works with the orthodontist we have been given a huge discount - which alone basically offsets all the costs we have incurred being here for this time compared to what we would have had to pay if we had waited and done it in Switzerland!

Gotta see the positives ;-)