mtDNA results

Hello,

My name is Rebecca, I am a new member and the mother of three girls who all have a range of medical issues.  I joined today after receiving the results from my middle daughter's mtDNA test. The results were given by her Metabolists Nurse and my understanding is that the test was essentially normal with the exception of one polymorphism that had never before been reported, that being an A>C Nucleotide Transversion.  She explained as best as she could that the Amino Acid was not changed so that it was probably safe to assume that it would not have any major effect, but she thought that it was important for me to meet with my daughter's Metabolist and his Genetic Counselor because it is an unknown mutation and they may want to run further tests.  I am wondering if anyone has any idea what this could mean?  Below is a description of my daughter's medical issues.  My oldest is diagnosed with Bipolar with very mild Autistic features and has slight left sided weakness and a history of Night terrors and Cyclic Vomitting.  My oldest and youngest have Convergence Insufficiency affecting their eye muscles.  I have muscle twitching, pain, numbness etc... that goes along with Opthalmic Migraines.

My daughter and I have begun taking CoQ10 with positive results.

My Daughter(age 9) Born with a fever requiring extra hospitalization, kidney reflux level  2, a valve in her heart that was not fully closed causing a murmur-It did close on its own.  High fevers during the first few weeks requiring hospitalization and Sepsis work up.  She fluctuated between Diarrhea and constipation and had chronic ear infections and asthma along with anaphlaxic egg allergies. She had frequent episodes where I could not wake her and when she woke up she would scream and immediately pass out again. She was evaluated for seizures.  There were none.  After having Pneumonia she was diagnosed with JRA at the age of two in Rheumatology. She was limping (left side)and was sleeping all of the time and did have an intermittent rash and bumps on her knees.  After about one year those symptoms seemed to resolve.  She continued to have the sleeping, coma like episodes and I brought her to South Shore Hospital ER where the Doctor immediately thought she looked like she was in an acute Metabolic crisis.  She had large Ketones and was Hypoglycemic.  She performed an Organic Acid Urine test and the results were returned abnormal.  At that point she had been transferred to Children's Hospital where they decided to repeat the test after she was stabalized having been on IV Sugar fluids.  The results were normal, so the original test was discounted. She has been followed in Metabolism for an initial diagnosis of Glycogen Storage Disease Type 0. This diagnosis was made due to ongoing ketotic hypoglycemia and Hyperglycemia with normal Insulin levels, poor growth, joint pain and swelling after an overnight study showed a clinical presentation indicative of the disease. However after two DNA screens have returned negative results, GSD 0 has been ruled out. Ketotic hypoglycemia and hypoglycemia/hyperglycemia with extreme irritability are still a major problem throughout the day.

She has been seen by Endochrinology for growth problems and recently for slightly abnormal thyroid labs.  We are supposed to return every 6 months for follow up. Her growth has always been poor. 

She has been seen at Childrens' in GI.  An X-Ray was performed which showed extreme constipation, She began to take Miralax which helps to some degree, but seems to be a permanent need for any relief. She performed an upper endoscopy to check for Celiac which was negative, but she does have esophogeal scarring from reflux.  Several Immunological labs came back abnormal (eosinophils very high, neutrophils low, complement C4 is 9, IGG low, IGA low and a few others) , so our next apt. is supposed to be with Immunology. Rheumatology ruled out any return of JRA.  She is going to see a Gut Motility expert at the end of January.

Thank You!

Rebecca