“Who can I see to diagnose my son? ”
My son is 3yrs and 3mths old and has been seeing a Neurologist and geneticist in Cyprus where we live for 20 months now. We have still not had a diagnosis of what exactly is wrong with him. He has had an EMG, MRI, muscle biopsy and also a huge number of blood tests. His CPK levels have dropped from 15000 to 600 over the last 20 months. We are originally from London but moved to Cyprus 7 yrs ago. We have family in London who we visit. We would really like to see a specialist and finally get a diagnosis. Who can we see to help us?
Male | 3 years old
Complaint duration: 20 months
Medications: None prescribed so far
Conditions: Lack of muscles, floppiness
9 Answers
NeurologistNeuropathy
I am a neurologist but my specialty is NOT in pediatric neurology. However, I would recommend you look into Capricor therapeutics. They have developed treatments that have demonstrated significant improvement and sustainability in movement and muscle strength in pediatric patients. This is still considered experimental but current studies are promising.
Good evening Thank you for your rmail. Your son should be evaluated by a pediatric Neuromuscular specialist. There are several in the US, you only have to google one closest to you. Wish you all the best. Hope this helps Amiola, MD.
I would recommend a neurologist with a subspecialty certification in neuromuscular disorders. In London Evelina London Childrens Hospital has a Neuromuscular Center Dubowitz Center. Hope this helps. Doc, jr David O. Childers, Jr., M.D. Associate Professor of Pediatrics Neurodevelopmental Pediatrician UF College of Medicine, Jacksonville 904 6330750 904 6330751 fax cidimage001.png01D89B4A.CB4A02A0 httpwww.hscj.ufl.edupediatricsautism Managers do things right. Leaders do the right thing.
Richard Grant Hunter
Neurologist
Situation sounds very complex and I don't know the results of most of the testing. You already have 2 specialists involved and their workup is impressive. I suspect they have found a muscular dystrophy, a muscle degeneration with a genetic component). These early childhood myopathies are quite rare. Sometimes a genetic basis can be found. On other occasions it is a single family kind that hasn't been defined yet. For the latter, I would ask your specialists if Cyprus has the research facilities available. I suspect London will have such facilities. They may have sent specimens there already. I think you are in good hands. Suggest you talk to them to see how far you want to go.
My best wishes!
My best wishes!
Sounds like some form of muscular dystrophy. I'd be surprised if they haven't told you such. You will want to get a neuromuscular specialist to look at this.
Usually the above mentioned tests should help make the diagnosis. He would benefit from seeing a neuromuscular specialist at an academic place for appropriate follow up and care.
Muscle disorders and nerve disorders come to mind with this type of presentation. This child should be evaluated by a pediatric neurologist at University Hospital.
Good morning. You seem to have had extensive work up. I can review and see your child and see if I can help. But I wonder if a University Hospital / clinic is better. Such as UCSF. Or UCDMC. Call my office. At 916-681-2226. Or email me. Thanks.
Thank you for your inquiry. We do have an Undiagnosed Diseases Program; however, it is located in Birmingham, Alabama. The link for a physician referral will be copied below if you are interested in coming to the United States for an appointment.
https://www.uab.edu/medicine/genetics/patient-care/clinical-services/undiagnosed-diseases
Kind Regards,
Kaitlin Callaway, CRNP
https://www.uab.edu/medicine/genetics/patient-care/clinical-services/undiagnosed-diseases
Kind Regards,
Kaitlin Callaway, CRNP
