Step 2) What do I do next?
1: Make an appointment to talk to your primary care doctor about the diagnosis right away (unless they are the ones who have made the diagnosis and/or suspected it and sent you to the next step).
2: Work with your primary care doctor to get a prompt referral to see (1) a geneticist or metabolic specialist and (2) their dietician. (Most genetic/metabolic clinics have a dietician on staff who is an expert in these disorders. You are going to want someone with expertise in this type of disorder and who has extra training to take care of your type of disorder).
3: Make sure your medical team is aware of the Guidelines for Diagnoses and Management.
The Guidelines for CBS deficient HCU can be found here
The Guidelines for MTHFR, Cobalamin defects or other remethylation disorders can be found here
4: Make sure you and each member of the medical team have a clear understanding of who is in charge of what.
5: Educate yourself & your family about Homocystinuria (HCU) or related disorder. Your health care professionals will have information available, and you should also access information on-line at HCUNetworkAmerica.org, HCUNetworkAustralia.org, e-hod.org and other websites to which these sites may refer you.
There are also Facebook sites where you can connect with other patients or families affected by the disease, including “Homocystinuria”, “Homocystinuria Support is Available” and the Facebook sites for HCU Network America and HCU Network Australia.
For MTHFR patients, additional information can be found at mthfrsupport.com and at the Facebook site mthfr support.
Symptoms of HCU are highly variable and can occur in affected individuals at any age. For this reason it is important to follow up with a health professional who is knowledgeable about HCU as soon as possible. There is much that can be done to improve outcomes in people with HCU.