Discussions By Condition: I cannot get a diagnosis.

My 8 month old - Please Help..

Posted In: I cannot get a diagnosis. 3 Replies
  • Posted By: Anonymous
  • August 27, 2008
  • 06:55 PM

OK I am going to start from the beginning. My son was born 1 week early due to extremely low Amniotic Fluid via C-section. He had Jaundice at birth and that cleared up under the lights and he was sent home after 5 days. He has snored and has been a "noisy" breather since birth. He had no suck reflex at birth either and feeding has always been a struggle for us. He was born 6.8 lbs and 18 inches long.

These are his diagnosed conditions:

Hypospadias

Larynogmalcia

Tracheomalcia

Sleep Apnea

GERD

Constant Stridor

Developmental Delay - he does not roll over from back to tummy and he is almost 8 months old. Only Gross Motor is delayed - other areas fine.

Milk Allergy

Vesicoureteral Reflux

Macrocephaly

Failure To Thrive

Constant Constipation

He also on August 6th had a Nissen - Fundoplication and G -tube insertion for his GERD and feeding issues. He gets his MIC-Key button on Sept. 2nd and his Hypospadias repair on Oct. 2nd.

He sees a Pediatrician, Urologist, a Cardio-Thoracic Surgeon, Physical Therapist, Developmental Specialist, Speech Therapist, and a Home Health Nurse.

He was growing just great until his 6 month well-baby checkup..It has now been a downward spiral. He lost a pound and a half and has failed to gain any weight since then. He has been the exact same weight for over 4 weeks. His feeding is controlled - so he is getting enough calories. He eats 4 ozs every 3 hours around the clock - 24/7. He is now 15.10 lbs and is 25 1/4 inches long.

I am at a lose. I am unsatisfied with his Pedi now because he claims all my son's problems are unrelated. How could all this problems be unrelated? How could one infant have so many "separate" birth defects and medical conditions? I am switching providers but with the insurance we are on it takes 45 days before we get in to see the new doctor. I just want someone else's views on my son's history. Am I being crazy? Or would you do the same? Anyone with any advice is welcome because I am tired of not knowing what is going on with my son.

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3 Replies:

  • ((((hugs))))) i kind of understand how you feel as one of my children was born with multiple birth defects. (she's 17 now). The whole thing is sooo daunting with that many specialists. My daughter had a pedritrition, a urinolgist, gastroentroligist, orthopedic specialist, physiotherpists, ocupational therapist, ENT specialist.. along with many surgeries with all the issues she had. We were practically living at hospital for first two years of her life. At one point of time she was seeing 13 different doctors and specialists regularly. He was growing just great until his 6 month well-baby checkup..It has now been a downward spiral. He lost a pound and a half and has failed to gain any weight since then Do you know why he lost the weight?? what changed at that point??? different diet??? Also if he has milk allergy.. there is a strong possibility he has other allergies too. eg celiacs disease etc (this dont always cause diarheare as some doctors still believe). I suggest putting his various symptoms into the search engines (in different combinations and leaving some out at times)... to see if you can find a diagnoses for him. Sounds like some kind of syndrome (where multiple issues do come in). All the best
    taniaaust1 2267 Replies
    • August 28, 2008
    • 02:11 AM
    • 0
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  • I too am sorry to hear of your son's troubles. I would recommend finding a good pediatric alternative doc to help with his symptoms: a good naturopathic, homeopathic, chiropractic or Oriental medical doc may really shed some new light on these issues. Also, there is a therapy called NAET that can help reverse his allergies - please research this technique it can really make a difference. I think it is important to continue with allopathic testing, and would recommend some genetic testing. But when it comes to allergies and autoimmune dysfunction like celiac and others, IMO alternative treatments are equally if not more effective. My last thought is to have his vitamin D levels tested. There was just an article in the NY Times concerning the increase of rickets in infants and this can help partially explain his difficulty in rolling over. It is becoming increasingly common and sounds like his diet is lacking in D. Speaking of diet- what is he eating/drinking on a daily basis? Best wishesDOM
    acuann 3080 Replies
    • August 28, 2008
    • 04:24 AM
    • 0
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  • I'm with Tania >>> I went to OMIM (human genetic syndrome database) (http://www.ncbi.nlm.nih.gov/sites/entrez) & put in this search: Tracheomaalcia hypospadias Larynogmalacia I got 185 hits. The probem is without a geneticist, no one wants (or maybe can) put the pieces together. Perhaps the doctors feel that knowing the underlying genetic cause will not help in dealing with the medical problems. But I'm of the opinion that seeing a geneticist can't hurt. They can be great at identifying what's going on.
    aquila 1263 Replies
    • August 28, 2008
    • 05:24 PM
    • 0
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