Importance of diagnosis: MALS? Gastroparesis?

About two months ago, my 16 yr old daughter (who has hEDS) began experiencing severe dizziness, fatigue, and nausea, making it difficult for her to stand or walk. Ever since then, she has only been able to walk to an adjacent room; otherwise, I have had to push her in a wheelchair. Her mobility has gotten worse since she was admitted to Children’s Hospital STL 2 weeks ago.

Hematology at Children’s St Louis ordered an infusion at the end of August due to anemia, just three days before her symptoms started. We eventually ended up in the ER. Her orthostatic blood pressure readings were alarming. With no clear explanation, we were referred to cardiology.

Cardiology confirmed a PoTS diagnosis a few weeks later (the soonest appt available), but in the meantime, she had developed significant GI issues. She felt like she’d eaten a 7-course meal after just a few bites, followed by severe reflux and stomach pain, worsening to the point where she couldn’t swallow or drink water. This led to another ER visit and ultimately her admission to the hospital last week.

She has been on continuous feeds thru NG tube, with bulk of feed overnight. She is not tolerating daytime feeds hardly at all. Her nausea and stomach pain is constant, but increases extensively depending on pace and amount of feed. Docs believe she is tolerating her feeds because she is not waking up at night and has not yet vomited (although she is being given a medication at night that makes her very drowsy). She does have a severe fear of vomiting and choking, and will do anything at all costs to not vomit… They have slowed or turned off her feeds if she has gotten to that point. But at this moment- she is not taking enough calories daily so they are trying a different approach (feeding 3 times a day… large volumes and higher rate per feed).

I met w/ GI and Peds privately on Monday. I expressed my concern about having not ruled out MALS and motility issues, but also expressed that I realize that this approach may be the only way. They basically laughed about probability of MALS, and said that due to her not being able to take in enough contrast (She is still unable to swallow and is receiving all fluids via IV) they cannot perform MRE or the other motility study that they use to rule out gastroparesis, etc at this time. I know that other hospitals have other technology to test for motility issues, and they admitted they do not have such technology, but they are in the process of getting it.

GI feels that gastroparesis and other motility issues are not of importance to diagnose, which I somewhat disagree with. We have had years of doctors saying this and that didn’t matter, but then it turned out, it did matter. She is not tolerating her feeds and is in constant pain and is nauseous all day every day. I feel very strongly that do not want to prolong her suffering unless I know 100% that this avenue is going to work and there is nothing else going on.

Obviously I agree that she needs nutrition- that is a black and white issue. But she is still immobile and when she is felling really sick (which is most of the time), she can’t even get up to use the bathroom. She has PT and OT coming in with all these exercises and things she needs to do, but anything beyond trying to push thru the pain and nausea seems impossible at the moment because she is feeling so sick. We haven’t even addressed the swallowing issue and I have zero clue how they would ever let her leave the hospital unless she was able to drink on her own.

Yesterday I met with her entire team… there were about 15 in the conference room. They admitted that there has been zero progress in the last 2 weeks. They said they were going to order a CT scan (which they have now changed to an ultrasound) to rule out MALS but they said that because they are unable to perform other studies to rule out motility issues, they are just going to start pushing feeds heavily. But I think they still firmly believe this is the only option.

I am wondering what you would do at this point… I am fine with this approach if she turns a corner soon. Part of me wonders if we even have a choice… would a transfer even accept us before we have exhausted all of our options at this hospital? At what point do you start looking into other avenues? I reached out to Mayo Clinic yesterday and they are in the process of reviewing her file.

I told the entire team in that meeting yesterday that she has been suffering for years and just seems to be getting worse, with more mystery ailments cropping up. I expressed that I would never forgive myself for putting her thru this daily, constant pain unless I knew this was the only way to recovery. I acknowledged to all of them that I know they have the same end goal for her, I am grateful to them, and I know they have to try to come at this from all angles… w/ psychiatry, psychology, GI, etc. I think they all feel at this point it is just functional abdominal pain, anxiety, and ARFID. I don’t necessarily disagree with their thoughts but I also know enough now about HEDS and POTS to know that while they could be right, they could very well be wrong. There is not a HEDS or POTS expert in this hospital.

Sorry for the diatribe… just feel like we are a little stuck at the moment and want to make sure I’m doing everything I can and thinking through everything….