If you’re someone or if you know someone with a PROS condition (or any rare disease), you may be aware of how important it can be to get your genes tested to access some treatments. Lately, I’ve been in a rut trying to get tested for the PIK3CA gene. This may be a common process other CLOVES patients are experiencing lately so that they can get a confirmed genetic mutation and/or try to join one of the available drug trials right now.
Man, did I not know how much of a process this was! My mom and I have been trying to get my genes tested for two years now, and we keep running into barriers. When I shared my experience with this on Rare Disease Day, I realized how helpful and supportive other people were who have already pursued the testing.
After learning more about the multiple routes that are available to get our genes tested, I wanted to organize the process as well as the barriers we may face and how to address those barriers. I, along with the CLOVES Family Advisory Council, wanted to do this by using your feedback in order to help others who may find themselves in a similar situation. We issued a survey to the CLOVES Syndrome Community a few weeks ago to obtain this feedback, and I organized that information to summarize the process in a way that may be helpful to others going through this same experience.
To start, I’ll summarize my experience so far and where I’m at now. I started my process at Boston Children’s Hospital in October 2018 with the Vascular Anomalies Team (including the year just to put a timeline on the process). They told us about a few drug trials out there for medications that inhibit the gene PIK3CA but in order for me to get on these trials, I needed to prove that I have the gene PIK3CA. Of course, I know I have it since I know I have CLOVES, but it needs to be tested and proven. So to pursue the genetic testing, we started with Boston Children’s Hospital who has been able to coordinate free genetic testing with the Broad Institute in the past.
Initially, we tried to use tissue of mine that had been stored at Boston and at Pittsburgh from previous surgeries years ago. We tried once by sending an old sample from Boston to the Broad Institute, however this sample failed since it was too old. So we tried again with tissue from Pittsburgh. And failed again.
At that point, we were out of available tissue (what was available was too old anyway). To put the timeline into perspective, these first 2 attempts took almost a whole year. It was a lot of communication with Boston Children’s and the research study, and the most challenging part of this was actually getting my samples sent to the Broad Institute. We ran into a lot of hiccups doing this that delayed everything, and most of that was due to poor communication on where the samples were supposed to be sent (not pointing fingers at anyone, but this part of the process did take a lot longer than it needed to.)
Despite all of this, Boston Children’s was very helpful and supportive along the way, and they did their best to make the process run smoothly (well, as smoothly as possible).
Anyway, by the time my second sample failed, we were informed I would need to get a biopsy to obtain a fresh sample. For me, the best place to do this was at Boston so that they could just fast-track it to wherever it needed to go for testing instead of starting out in Pittsburgh and sending the sample all over creation again.
So by this time it was about September 2019, and I got my biopsy scheduled for that December. After my new biopsy, Boston actually sent it to Washington University for their SOMA overgrowth panel instead of Broad Institute, and they sent it literally the same day of my biopsy, thankfully.
However, Wash U requires an insurance authorization for testing…which takes us to my next barrier.
So where am I at now? Well, my biopsy is done but now my insurance won’t authorize the test. They claim that the test is “experimental” and “investigational” because there is no FDA approved drug treatment for CLOVES, and if I should be considered for a clinical trial, the drug trial should pay for the testing. So here I am, fighting this decision with my insurance. My mom and I have appealed the denial three times, the first two of which were denied and now after the third appeal, it’s being “externally reviewed.” I’m not sure if that’s a good or a bad thing, but we’re hoping it turns out for the best.
We’ve tried to really fight and stand up for ourselves by explaining that this testing is not experimental because it’s required for me to access any treatment available (which has never before been available). It’s very disheartening that my insurance won’t authorize something so critical for treatment, and this is a perfect example of inequity in the health care system and access to treatment for people with rare diseases.
Now I’m searching for suggestions or experiences from other people to formulate a plan for anyone else who may find themselves in my shoes. After issuing a survey to the CLOVES Syndrome Community, the following is what was gathered.
FYI: I am not telling anyone to do anything in particular–I am just presenting the information gathered to help others who may find themselves in similar situations.
To start, most respondents went through their local CLOVES treatment hospital to initiate the process of genetic testing.
Others went through the Broad Institute, Washington University, the NIH, or Warman Lab at Boston Children’s Hospital. And some people went through entities like ZEBRAS @ GENEDX and 23 & Me for their genetic testing. If you’re looking to pursue the testing and don’t know where to start, it may be best to speak with your usual medical team.
We were also interested in who received a confirmed genetic mutation and who did not.
More than half of respondents did get a confirmed genetic mutation and a few either didn’t get one or are still in the process. It’s very reassuring to see that the majority of respondents were able to complete the testing!
We also assessed how long it took people to receive a genetic mutation confirmation.
Most people received a confirmed mutation within 3 months. For most others, it took 9 months to 2 years for them to get a confirmation (that’s the boat I’m in). And only a few people were within the 3-9 month window of receiving a mutation confirmation. Clearly, this process can end up being a long one.
In addition, we were curious about what costs, if any, people were responsible for.
Most people were not responsible for any costs which is wonderful, while about 1/5 of people were responsible for out of pocket costs such as the test itself or part of the test. This may be due to one of the barriers listed below that I also went through: insurance denials.
Finally, lets get into a list of the common barriers reported:
- 42% of respondents reported that they didn’t run into any barriers which is a very good thing to hear
- Almost 1/3 of respondents said that their insurance wouldn’t cover it and another 1/3 received either one or multiple insurance denials (however it’s good to note that one person won their first appeal after an insurance denial – good job whoever you are!)
- Some people had to do multiple biopsies or genetic tests which prolonged the whole process
- One respondent even stated that their hospital didn’t want to release the tissue to the NIH for testing, halting the process
Let’s get into how people addressed these barriers and what resources they used:
FYI: These steps/resources are all reported by respondents and aren’t guaranteed to work for everyone as every person’s case is unique–they are simply steps other people have taken.
1. Washington University
We had a respondent report that Wash U was helpful in getting their genetic test completed. This is what I am utilizing as well if I ever get to that point. One thing they do require though is that insurance authorization so depending on what insurance you have, you may either get the testing without any issues or could run into an insurance denial. It all depends on what insurance you have.
Not all insurances will deny you testing–mine just happened to be one of the insurances that doesn’t cover this particular test. Each person’s case/experience is different.
2. Some people got financial assistance through their treatment facility, including Boston Children’s Hospital
This is a great resource that I heard others talk about before even issuing out this survey. If you’re normally treated at Boston and interested in financial assistance, it may be helpful to reach out to the Vascular Anomalies Team to inquire about what’s available. It seems that free testing can be done through Dana Farber Sequencing at the Broad Institute, and this can go through Boston. I’m not sure about the details of this financial assistance or if there are any eligibility requirements, but it may be good to at least look into it. This is the first place I tried (where it failed due to sample viability). I’ve heard from some other CLOVES Community members that they got their testing in this way which was free, and they didn’t run into any issues doing so (as long as they had viable tissue). Other hospitals may have financial assistance programs so a good place to start may just be reaching out to your usual medical team and asking what assistance, if any, is available. One respondent even reported their local hospital in Ohio covered the entire cost of their test after they got several insurance denials.
FYI, Boston Children’s Hospital is a wonderful contact. They have been coordinating everything for me and are generally very responsive and good at communicating. They coordinated the initial Broad Institute test for me and are currently helping coordinate the Wash U test.
3. Others utilized the NIH (National Institute of Health)
Most people’s hospitals directed them to the NIH so one option would be talking to your hospital about connecting with the NIH or asking your doctor/team to connect with the NIH for you. Per the survey results, the NIH spoke with the testing facility to help initiate the process or the respondent had a particular contact who helped guide them through the process.
4. Some had to get other tissue samples from another/new procedure
This is similar to what I went through as well. Some had to either try to utilize samples from previous surgeries while others had to get a new procedure done at their usual CLOVES treatment center. This is often the route people will need to take if their tissue sample fails. It obviously isn’t ideal to have to go through another procedure but sometimes it’s needed. I ended up having to do this, but the biopsy was painless and it went very well at Boston Children’s Hospital Interventional Radiology Unit.
5. Most people stated that their doctors, social worker, and nursing staff at their hospital were the main ones who helped facilitate the process
Most respondents reported that their testing was completed mainly with the help of their medical team. Medical staff has directed some respondents to Dana Farber, the NIH, or even just facilitated the whole process. This is great to hear because it does show that the healthcare system cares about their patients and tries their best to give the best treatment to their patients. It’s always important to stay in close touch with your hospital staff throughout the whole process.
I have been staying in touch with the NP at the Vascular Anomalies Clinic in Boston who has been an incredible source of support throughout this whole process. She connected us with Wash U for the testing, communicated with them for us, sent us any forms that needed completed, provided necessary documentation for our insurance denial, and has offered guidance throughout the entire process. If you’re going to take away anything from this, at least remember that your medical team can be a wealth of information and assistance.
I love this simple response. Sometimes this is what we have to do being from such a small, rare population. Not much comes easy for us. Sometimes we don’t have resources available or our resources don’t bring us anywhere. This is exactly what my mom and I have been doing throughout this whole process. Fighting. We’re fighting with our insurance trying to prove I need this testing. We’re fighting the healthcare system (mainly the insurance system) that doesn’t always provide equal access to treatment for those with rare diseases. We’re fighting by spreading awareness, keeping our local elected officials informed about what barriers the rare disease population faces, and finding support.
Taking a side rail in this section to outline some ways you can fight.
I found that many people also are struggling with insurance denials, and this is where fight comes in. If this happens, I would suggest to appeal the denial as many times as you can so you can really present your case and fight for your treatment. One respondent actually won their first appeal which is wonderful. Other times like in my case, it might not end up working, but it’s worth the fight so you can really paint a detailed picture to your insurance company of how challenging it is to live with a rare disease.
Usually, your insurance company should also have care management services available to offer assistance if you find yourself in this situation. I’ve been contacted by a nurse care manager with my insurance who reached out and is exploring resources and options to help figure out what to do next which has been wonderful. To do this, you just would have to contact member services with your insurance. This should be listed in the insurance denial letter mailed out to you or you can just contact the members services line on the back of your insurance card. They may not be able to do much, if anything at all, but it’s reassuring to know you have that support.
Next, go to the people in power! Write letters to your elected officials to inform them about what you’re experiencing. Explain to them your rare disease and the barrier you’re facing and how they can help. Sometimes, a local elected official can ask the company to justify the denial. It’s important for local officials to learn about the barriers rare disease patients face when trying to access care. Whether they can work to resolve the issue or not, at least the word is spreading and they’re being made aware of this common barrier rare disease patients face.
I wrote emails about my experience to both my local county executive’s office and my local council member. I haven’t heard back from my county executive’s office however I did hear back from my local council member which really brightened my spirits! She expressed interest in rare diseases and offered to have her team research what ways they can help and even promote awareness on a city-wide level. She even expressed interest in helping to spread awareness for Rare Disease Day 2021! This feels like a win for rare diseases and it’s reassuring to see that someone in my local council expressed interest. It feels great to make progress, even if on just a local level. We’ve got to start somewhere, right? Gaining support from anyone can make a difference and the people in power will start to pay attention if you push enough! The more that we inform decision-makers, the more we’ll be able to increase awareness of rare diseases and make a positive change. You can look for your local officials here.
8. CLOVES Syndrome Community wrote to a local representative
It looks like for one respondent, CLOVES wrote a letter to a local representative during a third level appeal for an insurance denial. This is exactly the type of fighting I’m talking about! Remember that we as a CLOVES community are here for you for any help you may need. You can write a letter to your local rep or if you need help, you can contact someone in the CLOVES Community (or your particular rare disease community) for guidance.
9. A grant through the Rare Disease Foundation
Grants are another great resource that one respondent reported. I haven’t looked into any grants before but clearly they’re out there and can be of assistance. The Rare Disease Foundation appears to be a good resource and may have grants and other assistance programs available. If you’re interested in finding out about available grants or assistance programs, it may be good to start out by reaching out to your usual medical team–most should have a social worker on staff who may be well versed in this area.
Based on these responses, it seems most respondents succeeded in the genetic testing after either facing and overcoming these barriers or hopefully not facing any barriers at all. It’s great to see the different avenues people took and what resources they utilized to address their barriers. Unfortunately, there are some people who have not been able to get this testing done due to the barriers or lack of testing availability in their country. But that’s what this post is for. It’s not to tell anyone what to do but to lay out all options out there based on what other people’s experiences have been.
It’s wonderful seeing these responses because it shows that many people chose to search for resources and utilize them to fight for what they need. It takes time, as shown by the timeline that respondents provided, but there are some ways to address these barriers. And if you find that you’re stuck and don’t know where to turn, reach out to your community supports, whether it’s the CLOVES Community, National Organization for Rare Diseases, your own local rare disease organization, or any local supports! Seeing how others went through a particular process may be helpful and give you some ideas you may not have originally thought of.