Standards of Care as defined by UMN doctors

[fightald]

Bloodwork to check for adrenal insufficiency should be done at 4 months and repeated every six to detect AI early. It is easily treated with oral cortisol if need be. The first MRI should be done between 12 and 18 months to get a baseline reading and then repeated at age 3. From then on it too needs to be repeated every six months until age 12 and then just done annually. Early detection of changes is key in getting your boys treated with stem cell transplant before they ever become symptomatic ensuring them the best possible outcome.

Feel free to post any questions you may have.

[Kelwaterman Moderator]

Are the UMM MDs not referring yet to the journal article that was just released on best practices in the Journal of Endocrinology and Metabolism In Oct that sat be seen initially at diagnosis and then every 3-4 mos until age 2 then go to six months for the adrenal component? Bc that was a big development/ nationwide effort by the endos on the article working together to come to a consensus with the experience they’ve had so far with nbs babies as to not miss anyone ( adrenally speaking not neuro).

[fightald Partner in reply to Kelwaterman]

I wasn't aware of any publication. I will update my materials accordingly.

[Rosita5]

I always felt that having an MRI yearly could potentially miss something, so I appreciate that their suggestion of having MRIs done every six months.

[Joep1000]

Question, is it better to have the first mri closer to 12 months or 18 months? Or is there no difference? Thank u

[ElisaS Moderator in reply to Joep1000]

The reason the first MRI is scheduled between 12-18 months is to give parents a timeframe. The doctors have not found a lesion before the age of 2, and as a baby develops myelination in the brain can sometimes be misread as a lesion by a non ALD expert. In some areas there also may be issues with scheduling the first MRI and we do not want to cause any more stress on parents. The consensus is anytime between 12-18 months is fine for the first MRI.