Instead of lying on her back, she routinely sits herself up to play now.
She loved our Christmas activities, especially HER turn to add the ornament to the advent tree.
She can sit in a regular chair now. And she has gained TEN POUNDS since she left the hospital!
She was one very, very sick little girl in the hospital and you may remember that they ran test after test after test in an attempt to get a diagnosis. Most of the tests actually turned out fine, but the genetic testing results was not available until just this week.
So often with my children who have really NO past medical records, there are so many tests that when the doctor suggests one more I don't really think that they are going to uncover any mysteries. But this time they actually DID! Sonnet has been diagnosed with a rare genetic condition - Guanidinoacetate Methyltransferase Deficiency (GAMT). GAMT is an autosomal recessive metabolic disorder that primarily affects the nervous system and muscles. It is the first observed disorder of creatine metabolism.
According to the Association for Creatine Deficiencies website, "Guanidinoacetate Methyltransferase Deficiency (GAMT) is a mutation in the GAMT gene that makes the enzyme that creates creatine, resulting in a shortage of creatine."
What is creatine anyway? Creatine is a naturally-occurring amino acid (protein building block) that's found in meat and fish, and is also made by the human body in the liver, kidneys, and pancreas. It is converted into creatine phosphate or phosphocreatine and stored in the muscles, where it is used for energy. Creatine is needed for many tissues in the body to be able to store and use energy properly. The effects of guanidinoacetate methyltransferase deficiency are most severe in organs and tissues that require large amounts of energy, such as the brain and muscles. A shortage of creatine just doesn't allow for enough energy to support the brain and the muscles. Thus this syndrome seems often misdiagnosed as Cerebral Palsy or mental deficits.
This diagnosis explains so much, especially the WHY to her sudden dramatic increase in seizures. The good news is this condition can be improved. Her doctor has ordered supplementation of Creatine Monohydrate and L-ornithin, along with a vegetarian and low protein diet. When this is implemented at a very young age the child has a good chance at totally reversing the syndrome. Since Sonnet is seven-years-old her outlook isn't as good, but our physician is hopeful that we will see significant improvements in four key areas:
1. Seizures - perhaps to the point that she will not have to take her seizure medication once she obtains and maintains an adequate creatine level.
2. Cognitive ability - she likely has some permanent neurological damage, but adequate creatine levels should improve her ability to learn.
3. Muscles - we're hopeful that Sonnet ultimately won't need a wheelchair as her primary means of getting around. Maybe she will require a walker, maybe she won't! The original Cerebral Palsy diagnosis? May not be at all applicable.
4. Behavior - interesting enough, what we were interpreting simply as "institutional behaviors" may in fact be a part of her syndrome. So for those of you who have had your hair pulled, been scratched or slapped - as her creatine levels increase, these behaviors will hopefully decrease!
Sonnet will be closely followed by her doctors with blood tests and periodic specialized MRI spectroscopy of her brain to be sure her creatine levels are sufficient. She will also see a metabolic dietician who will monitor her special diet.
We are thankful to live in a time where genetic research has allowed the discovery of these mutations and an effective treatment for many of them. We are also thankful that this was diagnosed fairly quickly - she's only been ours for six months. Sonnet is a huge blessing to us, regardless of her "handicaps" but we are THRILLED at the prospect of improving her quality of life.
