After our first normal and healthy son, our second son, Hootan, was born in Tehran in 1985, at the time of full scale war between Iran and Iraq.
My pregnancy was uneventful and he was born without any problem.
He looked like a healthy and handsome baby boy. But from the moment of birth, the hospital staff could not feed him and he also refused breast feeding.
His pediatrician ordered many lab tests, including PKU, bit measuring of BCAA was not available at that time, so the true diagnosis was not made.
After three days, his feeding became normal, but he was crying endlessly. His pediatrician and we all assumed it was a neonatal colic pain.
At that time , the hospitals were full of wounded war patients, so we rushed him home to protect from exposure to dangerous infections.
A few months later, he caught a flu and went into a seizure followed by severe anorexia and confusion. We Were were totally stunned. He was admitted to the hospital and received adequate fluids (orally and intravenously) and thankfully recovered.
Over the next few months he had a few more hospitalizations with same scenarios. His symptoms became more apparent to us by that time he was 9 months old. His motor skills were delayed. After a lot of stressful times, we finally decided send his blood sample abroad for more analysis. We were shocked at the MSUD diagnosis we received from a French lab.
We were freaking out and stressed out since there was very little known about this disease.
And at that time we could not find any knowledgeable physicians or nutritionists to guide us through this rare disease. I am a nurse and my husband is a surgeon. We searched the available literature and found just a few lines about this disease and its treatment. We were unable to measure amino acid levels except by chromatography every 3-6 months.
Thankfully, he has a mild form.
Based on very little information, we put all our energy on his treatment and diet. We had the special protein formula imported and made his diet restrict of all ordinary proteins. Soon after, there was a sudden jump in his coordination and motor skill levels. He started to walk at 2 years old began elementary school at age 8. He is actually borderline. His memory is perfect but he is weak in math and interpretation of matters. He plays tennis, ping pong, swims & rides bicycle very well within his own abilities.
When he was 22, after a common cold there was a continuous nasal drip that continued for 3 months! After an MRI & CT scan we found out that there was an osseous defect in the base of his skull. He received a seven-hour endoscopic surgery in Tehran. He tolerated anesthesia and the surgery very well without any complication and fully recovered.
He has moved to USA seven years ago with us. We now live in ORlando, Florida. In spite of the problems in the past, he is doing very well. He manages himself very well and follows the restricted diet, even more so during any viral diseases, such as catching cold.
We are all keeping our hopes high for new treatments that can help him to improve his quality of life.
A Personal Story - Hootan Heydarian
- Written by Shohreh Heydrain Bonyadi