OpenHealth Q&A

Seeking Guidance on Infant Diagnostic Test Results

I'm looking for assistance with understanding my infant son's test results. He is now 7 months old, measuring 28 inches and weighing 20 pounds. He was delivered via cesarean section at 37 weeks, arriving at 5 pounds 10 ounces. As he was conceived through in vitro fertilization, my husband and I ensured carrier screening along with preimplantation genetic testing for aneuploidy (PGT-A) for all embryos, all of which were of high quality. The embryo that became our son was noted to be the best among them. At 2.5 months, our son was diagnosed with Milk Soy Protein Intolerance (MSPI) after we noticed blood in his stool. An abdominal ultrasound was performed to check for intussusception, and we were referred to a gastroenterologist. During our appointment, the gastroenterologist noted that the ultrasound indicated a slightly heterogeneous liver, prompting her to order blood tests. The results revealed elevated levels of AST and ALT, leading to a referral to a hepatologist. We visited the hepatologist in June, during which she ordered a repeat of the laboratory tests along with several additional ones. Subsequently, his creatine kinase (CK) and aldolase levels were found to be high (530 and 24.2), and she recommended re-testing in a month alongside another ultrasound. We completed that last week, and the doctor shared the results—his liver appears improved, being described as "less bright," yet the CK and aldolase levels remain elevated but have decreased (399 and 12.5). I noticed that AST and ALT levels continue to be high (80 and 61), with his globulin level low (1.6) and triglycerides elevated (291). Furthermore, several parameters from the Manual Differential and CBC were out of range, although the doctor did not address these. According to her, his liver, kidney, and thyroid functions are normal, but the existing numbers indicate possible inflammation elsewhere in his body. She wants to conduct a comprehensive metabolic evaluation in a month and mentioned the possibility of a liver biopsy should the forthcoming tests yield inconclusive results. Despite my inquiries about the specific concerns she has, her responses seem rather ambiguous. She has suggested that an enzyme deficiency could be a contributing factor, which has left me feeling anxious about genetic metabolic disorders. While my son is currently thriving, healthy, and robust, I know of a family whose child, similarly healthy, experienced a serious decline from a comparable condition and tragically passed away at the age of 5. Given my pre-existing health anxiety, I’m extremely worried about our situation. I suspect the doctor may be deliberately vague to prevent unnecessary distress, yet my concern persists regardless. I desperately need some guidance regarding my worries—could any of these findings potentially signify nothing significant, or is there a definitive issue that we need to address, the severity of which is uncertain? I plan to follow up with the doctor for further clarification while also hoping for insights from others who may have faced similar circumstances.

Answers (1)

7/19/2025, 7:10:42 PM

OpenHealth AI

It’s understandable to feel anxious regarding your infant son’s medical situation, especially given your family history and the complexity of his test results. The good news is that he is currently thriving and healthy. Let’s break down the important points and provide guidance to help you through this.

Main Points:

1. Your son has complex test results indicating elevated liver enzymes (AST, ALT), high creatine kinase, and low globulin levels, which require further evaluation.
2. While these results can indicate inflammation or potential enzyme deficiencies, many conditions are manageable, and your son is doing well.
3. Maintaining open communication with your healthcare team is essential for clarity and peace of mind.

Explanation:

Your son's background includes a known milk soy protein intolerance, which can contribute to gastrointestinal issues, but it's good that he is progressing well in terms of growth and development. The elevated liver enzymes and other findings can suggest a number of conditions, and while they often sound concerning, many infants experience transient issues that resolve with time.

Next Steps:

1. Prepare for Your Next Appointment: Before your upcoming metabolic evaluation, make a list of all your questions and concerns. Explain your understanding of the situation to the doctor, and ask for specific examples of what the test results might indicate.

2. Maintain a Symptom Diary: Keep track of any changes in your son’s behavior, symptoms, or feeding patterns. Documenting these can provide helpful insights during your follow-up discussions with healthcare providers.

3. Manage Your Anxiety: Given your health anxiety, try to focus on the positive: your son is thriving. Consider strategies like deep breathing, mindfulness, or speaking to a counselor about your worries.

4. Seek Clarification on the Tests: Ask the doctor about the specific tests being done for enzyme deficiencies, the implications of the CK and aldolase levels, and what signs or symptoms you should watch for.

5. Engage With Support Groups: Connecting with other parents in similar situations can provide comfort and practical insights. Look for support groups for parents of children with liver issues or metabolic disorders.

Remember, while the medical jargon can be daunting and concerning, many children with elevated liver enzymes and other out-of-range test values grow up healthy. Focus on the next steps, stay informed, and ensure your healthcare team understands your need for clarity. You’re advocating well for your son, and that’s critical during this time.