When you were first (and or your child) diagnosed with ALD, what was your doctor’s initial advice?

[KerriDeNies]

Here is my story of how I had the news broken to me...let us know your story to help others

My baby’s pediatrician/ our family doctor’s office called us on a Monday morning and told us I needed to come in that afternoon to discuss my sons test that just came in. They wouldn’t tell me anything else. I was home with my 10 month old and I immediately called his father and told him he should come home. We had to wait most of the day until our appointment time. I of course was racking my brain and calling all my nurse friends trying to get an idea of what this could be. I was shaking...

When we went into the office, the doctor sat us down in front of her and she read off her laptop that our son was diagnosed with ALD through the newborn screening. I was totally confused as to how we were just finding out now since he was already 10 months old, but later on that week I was able to find out they went back and tested all babies in the state of California that were born in 2016 for this disease. I am extremely lucky they did this or we would still not know and or have the opportunity to have my son monitored.

Instead of actually researching ALD through her medical network and speaking to experts, our pediatrician told us she googled the information. She went onto reading off her google search and gave us only the worse case scenarios. Instead, she should have explained how our son should be monitored, what specific specialists we should be referred to and how there are amazing treatments for this disease. We left the meeting with no paperwork, no information other than a piece of scrap paper my husband asked to use to write down the name of the disease we couldn’t even pronounce yet. She told us a specialist would call us soon with info. Our pediatrician has not been helpful whatsoever with this process still or wanting to learn more about this disease. At one of my son’s baby check-ups, our pediatrician’s Nurse Practitioner said to me “I don’t understand because he looks perfectly healthy”, which shows me they don’t care to actually understand the disease. They are supposed to be my main contact for whenever my son gets sick and will keep an eye on his symptoms and should be communicating with his Endocrinologyst to make sure his adrenal glands are monitored if needed. Needless to say I don’t trust them going forward...

Once we were referred to a local metabolic department, and after two appointments with them not getting any answers on who our sons Endocrinologyst and Neurologist should be, I started my own search of top experts to take my son to, with my Mother’s help. I also was not told by anyone to get myself and my family tested to find out where the mutation began. I have 4 sisters (one who was pregnant at the time) and two parents who were also worried sick not knowing. After me making sure everyone was tested, thankfully only my son and I are the only two people in my family with the mutation. I definitely have had to learn how to advocate for my son & for myself to be monitored (since I’m a carrier as well).

I feel extremely confident with my son’s specialists he now has in place going forward. It was definitely a wave of a year, but I have learned so much and are here to support anyone who may need guidance. Janis Sherwood & Elisa Debeelis Seeger are amazing Mom’s who run this page. They have helped me tremendously in many ways and feel extremely lucky that they have made all of this possible for my son to have a chance at a normal life ❤️.

Please share with us your story of how you were told...this will help future families be given the news in the best way possible. Thank you!

[Rosita5]

Hello,

My son was diagnosed at two months, the nurse called me from the local children’s hospital. She told me My Son had ALD and we needed to be seen immediately. I wrote down those three letters that changed my life forever. At first, I didn’t understand the urgency until I did a simple google search which result in panic and fear of the “rare yet deadly genetic disease.” So I called her back to explain further, because I was shocked. We made an appt. to see the geneticist and she was very attentive and caring which is important in these cases (I’ve met with two other geneticists in this same dept. and they act like it’s no big deal). Anyway, right away we met with the genetic counselor to speak about who else in the family might have this disease and to immediately have some potential members tested (brother and cousins). Then we made appt with an endocrinologist and a neurologist. We had an MRI at 3 months because the neurologist wanted to get a baseline and then have his yearly again at 1 year old and his HCT/ACT levels tested were tested after the endo visit. The neurologist suggested we go to Stanford to meet the stem cell transplant team to dicuss our options. We have a lot of hope now because all the comprehensive teams on our side and the early stage we found the disease, all we can do is monitor him and give him the happiest, healthiest life possible. I am the only carrier in my family, so I feel a special closeness to him (and he looks like me, lol, good looking boy). I just want to say that you as the parent have to be on top of the visit, you must know when they need to be scheduled for. Find a doctor who actually listens with care and compassion. There are times when the hospital or the doc don’t call, YOU need to make the call, YOU need to be their biggest advocate.

[KerriDeNies Moderator in reply to Rosita5]

Thank you for sharing your story! You will help many more Mommy’s and families going forward with your words of wisdom! I am here if you ever want to talk further

[Rosita5 in reply to KerriDeNies]

Thank you for moderating this group on the forum. May I ask, why do you travel to Boston to see the neurologist? Are there no qualified specialist in SD or is it just preference?

[KerriDeNies Moderator in reply to Rosita5]

Hi! Of course...Janis & Elisa are the main moderators. I am just here to help:). Since I had such a difficult first few months with my local hospital and them not having enough experience in treating ALD, I decided to start researching and found the specialist that has hundreds of patients and is constantly doing research on ALD & AMN. It has truly made me be able to relax a little and trust their expertise going forward. Let me know if you have any other questions!