How does new born screening of ALD help?

[aadilmadarveet]

Could anyone share some info on how does the new born screening help in treating the child.

[fightald Partner]

With newborn screening diagnosis you need to monitor the boy with blood work to catch adrenal insufficiency and MRI's to detect changes. Only then would you treat for ALD. Many boys don't ever need treatment, but if they do... the disease progression is caught very early and stem cell transplant is much more successful in halting the disease before any symptoms ever arise. I can send you a Standards of Care to share with your sons pediatrician so you are all on the same page. He will need blood work starting around 4th month and repeated every six months. First MRI between 12 and 18 months, then again at age 3 and then every six months. You can email me at [e-mail].

[aadilmadarveet in reply to fightald]

thanks for the update.

[KerriDeNies Moderator in reply to fightald]

I completely agree and trust Janis who has helped me throughout the last 2 years with my son’s diagnosis through newborn screening. She was also one of the Parent advocates who helped push for the bill to be passed in California to add the test...I am forever grateful for the knowledge. Although it is also very difficult to know what the possibilities are for my son’s future, it’s going to save his life! What a gift to have! ❤️. I’m here for support too! I have learned sooo much I’d love to share as a parent who’s child was diagnosed with ALD through newborn screening.

[TwoInsomnias in reply to fightald]

Hi Janis. Thank you so much for your work on this forum. I'm still processing the ALD diagnosis for our son. We're seeing a geneticist at Children's Hospital of Los Angeles. They recommended MRIs every six months, starting at age 3. Is it standard practice to get the first MRI done between 12 and 18 months? Perhaps the doctor mentioned this, but I might have missed it... it was a pretty overwhelming meeting.

Thanks for your help!

[fightald Partner in reply to TwoInsomnias]

If you give me your email address I will send you a copy of the Standards of Care for you to share with your sons doctor. It is recommended to get a baseline reading of the brain between 12 and 18 months. Repeat at age 3 and then every 6 months up to age 12, then annually. Changes are most often seen between the ages of 4 and 11 if the boy even develops the cerebral form of the disease, only about 30% will. There is no way to predetermine who will or when.