Remember my dd who puked for a month last October? Anyone know about metabolic diseases?

[Veritaserum]

Recap: Dd age 10 started throwing up last October. At first I thought it was a stomach bug, but it just didn't stop. Multiple visits to her primary doctor, multiple visits to the ER, a hospital stay, referrals to neurology and GI, a bunch of tests, a variety of medications (nothing works to prevent or abort an episode) and a year later, she continues to get these episodes every three months. Pattern is sick for a month, fine for three, sick again.

 

We've moved to a new state. She started another episode at the end of August that is still ongoing. We met her new GI last week, who put her on a cyclic vomiting protocol even though her symptoms don't really fit CVS. The GI also ordered metabolic screening. THAT is where I think we need to spend more time looking.

 

Her tests revealed below normal and very, very low normal levels of carnitine. When she was a newborn she failed her metabolic screening twice--both times flagged for low carnitine. Follow-up confirmatory testing for primary carnitine deficiency said she didn't have it, but her low levels now and then make me think she does have some issue with metabolic function. Her pediatrician referred us to the metabolic specialists, but when I called to make an appointment I was told they don't take every case they are referred. We find out in a week if they'll see her and it will likely be months before we get in if they do decide to take her case. 😒

 

In the meantime we are trying one more thing ordered by GI before doing another in patient hospital stay because she's been vomiting for over three weeks now.

 

I know it's kind of a long shot to ask here since metabolic diseases are fairly rare, but does anyone have experience with the manifestation or diagnosis or treatment process?

[Barb_]

Not here but thanks for posting. I do remember your daughter's health issues and I'm glad you're beginning to find some answers. Something is definitely off and I'm glad you're pushing to find out what it is.

 

Bumping so someone else can maybe help

[Crimson Wife]

My daughter had low carnitine and some other symptoms consistent with mitochondrial disorder. The neurologist hadn't wanted to do muscle biopsy testing at the time (2012) because it was so invasive and there weren't really any treatments beside the "mito cocktail" she was already on.

 

Fast forward 5 years and we had whole exome sequencing done. Turns out she does NOT have any mitochondrial disorders BUT they found a rare neurological disorder called Bainbridge-Roper Syndrome that explains so much about her.

 

My recommendation is to push for whole exome sequencing. I spent years seeking evaluation after evaluation for my DD because I always felt like it was the blind men with the elephant & we weren't getting the full picture. I had people calling me "attention wh*re" and accusing me of "Munchausen-by-Proxy". They haven't apologized and probably never will but I feel vindicated.

[displace]

I think the newborn screening tests are designed to pick up extra patients who may not have the disease. As in, the tests are over sensitive and the back up/confirmation tests are more reliable as far as diagnosis? Doesn't explain current levels, though? If she's this old when it showed up, it's likely a mild form of the disease.

[MamaBearTeacher]

If I remember correctly there is a national organization that supports parents who have children with metabolic disorders.  I'm sorry but I forget the name.  They might be able to tell you what to do if the specialists say no to your daughter's case or they might provide other useful information.  

 

I hope you find answers that lead to solutions!

[Crimson Wife]

I think the newborn screening tests are designed to pick up extra patients who may not have the disease. As in, the tests are over sensitive and the back up/confirmation tests are more reliable as far as diagnosis? Doesn't explain current levels, though? If she's this old when it showed up, it's likely a mild form of the disease.

 

The newborn screening tests only screen for the most common disorders. It would be prohibitively expensive to screen every baby born for every genetic disorder out there when the overwhelming majority of them are perfectly healthy.

 

A child who is showing symptoms cannot rely on newborn screening tests because those may be giving a false sense of security.

[Veritaserum]

My daughter had low carnitine and some other symptoms consistent with mitochondrial disorder. The neurologist hadn't wanted to do muscle biopsy testing at the time (2012) because it was so invasive and there weren't really any treatments beside the "mito cocktail" she was already on.

 

Fast forward 5 years and we had whole exome sequencing done. Turns out she does NOT have any mitochondrial disorders BUT they found a rare neurological disorder called Bainbridge-Roper Syndrome that explains so much about her.

 

My recommendation is to push for whole exome sequencing. I spent years seeking evaluation after evaluation for my DD because I always felt like it was the blind men with the elephant & we weren't getting the full picture. I had people calling me "attention wh*re" and accusing me of "Munchausen-by-Proxy". They haven't apologized and probably never will but I feel vindicated.

If we get a metabolic disease diagnosis (or a related disorder), I want to write letters to the people who gave us our worst experiences (like the children's hospital she stayed in last year). I'm still angry a year later about how dismissive they were and how ridiculous they were in their treatment plan. I wanted her to see GI given that she was suffering from GI symptoms, but they sent behavioral health instead. Ugh.

 

She gets so ill during these episodes that she is unable to do anything. She missed half of fourth grade. So far she has missed all of fifth grade. I just need someone to take this seriously and I think her new pediatrician is a good ally to have. I liked her new GI as well, but at this point I'm not sure she has an underlying GI issue. Structurally everything looks and functions normally.

[Veritaserum]

I talked to a genetic counselor friend last night. She said that over the past ten years she's seen a number of cases of "mild" disease in a patient with a genotype typically associated with a more severe form. Because newborn screenings are catching more cases, this is more common than previously thought.

 

I didn't think anything of dd's failed screenings once we got the message that she was "fine." But now she's not fine and she hasn't been for a year and no one has any explanation or effective treatment to offer.

[maize]

I remember following your nightmare saga last year. I am sorry to hear that your dd is still having trouble and hope you find some answers soon.

[Harriet Vane]

I remember following your nightmare saga last year. I am sorry to hear that your dd is still having trouble and hope you find some answers soon.

 

:iagree:

 

 

:grouphug:

[Veritaserum]

*sigh* After not throwing up since Friday morning, she's back at it again. We did meds+ a liquid diet for almost 48 hours before slowly reintroducing solids. She complained of nausea pretty soon after the first food, which was applesauce. I'll see how she does overnight and call her doctor in the morning. If we are going to admit her, it would be nice to skip the emergency room if possible. Maybe if GI calls ahead we can manage that.

 

It's her birthday on Tuesday. She doesn't want to spend it in the hospital. 😔

[Okra]

:grouphug:  :grouphug:

[ErinE]

*sigh* After not throwing up since Friday morning, she's back at it again. We did meds+ a liquid diet for almost 48 hours before slowly reintroducing solids. She complained of nausea pretty soon after the first food, which was applesauce. I'll see how she does overnight and call her doctor in the morning. If we are going to admit her, it would be nice to skip the emergency room if possible. Maybe if GI calls ahead we can manage that.

 

It's her birthday on Tuesday. She doesn't want to spend it in the hospital. 😔

:grouphug: I'm hoping you find some answers.

 

Can I recommend also letting your dd's dentist know about her episodes? Years ago, I had an infection that made me sick to the point where nothing stayed down. Thinking it was temporary (I get nauseous easily), I waited several weeks before seeing a doctor. Once the illness was under control, I went to the dentist and she was appalled at the condition of my teeth. I explained the issue, and she told me I should have come to her sooner to as she could give me a fluoride rinse to protect the enamel. It's been a long time, but I'm still having to deal with the damage. I wish I had been more proactive about protecting my dental health.

[Katy]

Veritas has whole genome sequencing for $999, if you want to start there:  https://www.veritasgenetics.com/mygenome

 

 

I've always noticed I feel best on a mostly vegetarian diet, I hate eating too much protein naturally even when family members binge on it. 5-10 years ago when the Dukan diet was trendy (high protein), I tried it. I felt like crap and looked, to quote DH,"Like death warmed over."  I also notice that my sweat reeks of ammonia when I eat too much protein.  Thankfully multiple family members told me at the time I had to go off that diet and I listened to them, because later when I did 23andMe testing I realized I have multiple genetic issues with breaking down proteins and ammonia.  I could very well have ended up like this woman if I didn't listen to the concern of family members: http://www.cnn.com/2017/08/15/health/australian-body-builder-death-protein-shakes/index.html I have had a family member with similar responses to protein die of liver failure, so I suspect it effected that person too.

 

Anyway, since then I've realized that whenever it comes to something rather vague and difficult to diagnose and treat, there is likely genetic issue(s) at play that would be much easier to figure out with more information.  I'd start there.  That way you can set up a google alert and be able to track exactly how genetic studies apply to your DD the moment the studies are published.

[happi duck]

(hugs)

[mumto2]

:grouphug:

[Annie G]

:grouphug:

[Amira]

Laura, I'm so sorry you're still dealing with this. I hope you find some answers soon. :grouphug:

[Veritaserum]

Plot twist: after puking all night Sunday night, she was symptom free Monday. She had a good night last night and after twenty-six days of being ill she is at school today, her birthday. ☺ï¸

 

I've been in contact with the records department for the newborn screening program in our previous state. This morning I received the report of her newborn carnitine levels, which were assessed after her two failed metabolic screenings. They show low/barely normal across the board. Not as low as her labs from two weeks ago, but low enough for me to think this has been a problem her whole life.

[East Coast Sue]

I'm so sorry to hear about your daughter's continued illness. I hope you're able to get answers and find treatment soon.

 

 

Sent from my iPhone using Tapatalk

[Alessandra]

I am so sorry to hear the update. I hope you are able to find some answers and a good treatment.

[Hilltopmom]

That does sound possibly mito related to me.

 

We went to the Cleveland Clinic for their mito/ genetics dept.- they reviewed records by mail for us also.

Some go to Boston instead.

[Ali in OR]

I'm so sorry you're still going through this, and I know nothing about metabolic syndromes. But my special needs kiddo does take L-carnitine to protect her liver from one of her seizure meds. It's the easiest thing in the world, so I'm dreaming of a solution for you where your dd can just take something that miraculously does great things for her.

[Forget-Me-Not]

I have the name of a fantastic pediatric GI at UC Davis (California).  I don't know if that's in your realm of travel or not, but PM me if you want her info.  

[Crimson Wife]

Some kids do better taking acetyl-l-carnitine rather than standard l-carnitine. When my special needs child tested low in plasma carnitine, her integrative pediatrician put her on ALCAR because he said it is the more bioavailable form.

[displace]

(Hugs). I hope she has a nice birthday. I'm also sorry to hear she's still having problems. Honestly, we know a lot about medicine and diseases, but I bet there's a lot still that is unknown. I hope you can find some answers to help her.

[wonderchica]

I second talking to the dentist! All that stomach acid wreaks havoc on your teeth.

[gardenmom5]

I'm glad to hear you're finally (it sounds like) heading in the right direction for answers as to what will (hopefully) help her.  I hope you're able to get her in with the metabolic specialist.  is it possible to find one out of state to get in sooner?  (I know that can be hard too.)

 

My son would vomit for a week every three months (lots of testing, more testing at the children's hospital), iv's, im narcotics, losing weight, no answers for a couple years+ - it was a pinched nerve in his spine.  also looked at cvs.

 

it is so hit or miss if you have someone who can think outside the box- I'm glad you seem to be on the right track for her.

[trulycrabby]

Gosh, I remember it very well! I am so sorry she is still suffering, and hope she finds some relief very soon! :grouphug:

[dirty ethel rackham]

I am so sorry that she is still suffering.  Your poor family.  Praying that this new information leads to a successful treatment for her.

[Veritaserum]

Her dentist said her teeth looked okay, but we also have her doing ACT flouride rinse.

 

She had a good birthday. She stayed the whole day at school (I wasn't sure she would last).

 

It's her acylcarnitine levels that are below normal. The other levels on her carnitine panel are low/barely normal.

 

GI office called tonight and asked if I'd seen her low acylcarnitine. I said I had. The person I spoke to said dd should be seen by metabolic as a result. Hopefully we get a call from them soon. The pediatrician, GI, and metabolic specialists are all affiliated with the children's hospital here. If the pediatrician and the GI both want her to see metabolic, it seems like that should happen.

 

We are in San Diego now. The metabolic clinic appears to be well regarded. I just need her to be thoroughly evaluated.

[Veritaserum]

😫 The puking returned at bedtime and has lasted through this morning. Trying a liquid diet again. She first got sick with this episode 28 days ago.

[Veritaserum]

I called the metabolic clinic. "Clinical review" of dd's referral is in process. The person I spoke to said they review labs and chart history to determine which speciality within the clinic is most appropriate. It will be another week before we hear back.

 

I hope this means they will see her....