Infant, 4 weeks in ICU, no answers.

[Fustrated_Dad]

My six month old baby girl has been in ICU for 4 weeks without a diagnosis.

HISTORY - She has been on high dose steroids (3mg/kg prednisone) for about 4 months due to hemangiomas in her airway. Had a surgical resection at 2 mo old, then resumed steroids when symptoms reappeared. Airway is currently stable.

SYMPTOMS - Began having diarrhea which became progressively worse and was eventually accompanied by intermittent vomiting. We took her to our local Childrens' Hospital where she has received all her treatment, since she could not miss her steroids.

She was treated for severe dehydration and electrolyte imbalance and was stabilized. She was experiencing severe abdominal pain as the diarrhea and vomiting persisted. Countless blood tests, Urine analysis, stool samples, ect... gave no answer. During the next 10 days many new, serious problems presented; she became anemic, low platelet issues, bloody stool and urine, loosing protein and glucose in her urine (Fanconi syndrome.) These symptoms have all been stabalized, but we are left with our original problem.

CURRENTLY - She continues to have constant diarrhea despite not being fed (secretory diarrhea), is unable to hold anything down, has intermitent fevers and a heart rate between 160-210.

We've seen dozens of doctors, the full array of specialists, and still no answers. A few days ago she had an upper and lower endoscopy which will be available tomorrow.

Any ideas or suggestions? Thank You.

[Fustrated_Dad]

Well, we finally got our diagnosis. After the 5th week we transfered to UCSF and spent another 4 weeks without answers. We are happy to know what we're up against, but it's not a diagnosis we were prepared for. It's called Hemophagocytic Lymphohistiocytosis (HLH). It is similar to a blood cancer and she has already started her chemo. The prognosis is usually not great but we may have caught things before they got out of hand. Thank you for responding and for your concern.

For more info go to Histio.org

[lizziecee]

I too am very sorry to hear of your daughter's problems. Have the doctors checked for coeliac disease and pancreatitis? Just clutching at straws here. Ask if they can do a calprotectin stool assay test. I have had Crohn's for 37 yrs and this test has only been available in England (where it was developed) for about 4 years. If the calprotectin level is out of range (norm is 20) this shows inflammation in the digestive tract - but not where. If the level is high (mine is 80 so am awaiting an MRI) this gives the gastro the green light to do more invasive testing. The cal test only requires a stool sample. However, if your daughter is not eating, I am not sure if this test can be done on watery faeces. I really don't know what else to suggest.  Have you tried calling the Mayo clinic in Rochester? They are world leaders in health care, and that is where I would go if my doctors could give me no definitive answers.
I hope the endoscopies will throw some light on the cause of your daughter's illness.
Please come back and let us know how you get on.
Liz.

[cirella]

I'm sorry...I don't have a clue. I just wanted to say how sorry I am that this is happening.  It must be agonizing to watch you little baby go through this.  I hope they find out what is causing all those symptoms soon.