Testing my son for ALD

My son is 5 yo and starting getting signs of hyperpigmentation about 6-12 months ago and presented with many symptoms of adrenal insufficiency. His doctor confirmed a diagnosis of Addisons Disease and he is on hydrocortisone and fludrocortisone. They sent his labs/ blood to John Hopkins/Kennedy Krieger to test for ALD. Other than the adrenal insufficiency and Addisons symptoms, he shows no cognitive/Neuro signs of ALD. I’m curious if anyone on this forum has experienced a similar presentation of ALD with just Addisons symptoms.

Thank you!

Stephanie

Hi Stephanie. Thank you for sharing your story. When my son Zack was about 6 or 7 his skin started getting this beautiful “glow”. Everyone comented on his “tan”. He kept this “tan” all year round with no tan lines. We thought nothing of it until the fall when he was 8 years old. In the space of about 3 months he got the chicken pox, mono, pneumonia, and 2 ear infections, the somach flu and countless unexplained fevers and fatigue. Fast forward to Aug 14 2008…he got another stomach flu but this time was worse. He became unesponsive so we took him to the hospital. There they said he was almost in a coma. They ran a lot of tests and sent them to the nearest childrens hospital. 2 weeks later he was diagnosed with Addisons and put on hydrocortisone and he felt much better. That was Sept 5 2008. By Nov 24 he had to have a MRI because ALD was found in his blood. The MRI showed minimal brain involvement and he was placed on the national bone marrow registry. On Apr 3 2009 Zack had a cord blood / stem cell transplant. Today he is a happy healthy 10 and a half year old. You would never know he was ever sick. Of course this is the condensed version, so if you have any questions please don’t hesitate to ask. I hope this helps. Take care.

Tracey

Thank you for your reply. We get his results for the ALD test this coming Monday. I’m praying it is just Addisons, but am learning about ALD just in case. I will let you know on Monday!

Tracey Stuart said:

Hi Stephanie. Thank you for sharing your story. When my son Zack was about 6 or 7 his skin started getting this beautiful “glow”. Everyone comented on his “tan”. He kept this “tan” all year round with no tan lines. We thought nothing of it until the fall when he was 8 years old. In the space of about 3 months he got the chicken pox, mono, pneumonia, and 2 ear infections, the somach flu and countless unexplained fevers and fatigue. Fast forward to Aug 14 2008…he got another stomach flu but this time was worse. He became unesponsive so we took him to the hospital. There they said he was almost in a coma. They ran a lot of tests and sent them to the nearest childrens hospital. 2 weeks later he was diagnosed with Addisons and put on hydrocortisone and he felt much better. That was Sept 5 2008. By Nov 24 he had to have a MRI because ALD was found in his blood. The MRI showed minimal brain involvement and he was placed on the national bone marrow registry. On Apr 3 2009 Zack had a cord blood / stem cell transplant. Today he is a happy healthy 10 and a half year old. You would never know he was ever sick. Of course this is the condensed version, so if you have any questions please don’t hesitate to ask. I hope this helps. Take care.
Tracey

my son Jack, now 10, also had all these signs and symptoms and nearly identical to traceys sons also.
he was misdiagnosed with epilepsy, one neuro not believing the small town neuro who tentatively diagnosed him after a seizure out of state. he had a bone marrow transplant october 21, 2008. he is impaired with vision, gross and fine motor and speech and has a feeding tube BUT and this is important, he is now stable and beginning to regain some lost ground. hes happy, mostly healthy except for the disease itself and the addisons, chatters all the time, laughs, and the spasticity even helps strength wise. write me off list if you like. www.caringbridge.org/visit/jackmccall ■■■■■■■■■■■■■■■■■■■■■■■■

Tracey Stuart said:

Hi Stephanie. Thank you for sharing your story. When my son Zack was about 6 or 7 his skin started getting this beautiful “glow”. Everyone comented on his “tan”. He kept this “tan” all year round with no tan lines. We thought nothing of it until the fall when he was 8 years old. In the space of about 3 months he got the chicken pox, mono, pneumonia, and 2 ear infections, the somach flu and countless unexplained fevers and fatigue. Fast forward to Aug 14 2008…he got another stomach flu but this time was worse. He became unesponsive so we took him to the hospital. There they said he was almost in a coma. They ran a lot of tests and sent them to the nearest childrens hospital. 2 weeks later he was diagnosed with Addisons and put on hydrocortisone and he felt much better. That was Sept 5 2008. By Nov 24 he had to have a MRI because ALD was found in his blood. The MRI showed minimal brain involvement and he was placed on the national bone marrow registry. On Apr 3 2009 Zack had a cord blood / stem cell transplant. Today he is a happy healthy 10 and a half year old. You would never know he was ever sick. Of course this is the condensed version, so if you have any questions please don’t hesitate to ask. I hope this helps. Take care.

Tracey

Hi Stephanie:

My husband was diagnosed with Addison’s at about age 7, but was not diagnosed with AMN/ALD until he was 26 – he turns 40 this month. He did not show any ALD symptoms until right around he was DX’d in 1996, and even then it was only additional physical symptoms of aching/pain/numbness in his right leg. With the Addison’s, his energy levels were already haywire – he has been on prednisone & florinef (fludrocortisone) since he was a kid. His doctor has changed around his steroids and the dosages a few times. With long-term corticosteroid usage, you have to watch for bone loss. My hubby has received bone density scans periodically over the years because of these meds; he was DX’d with Osteopenia about 4 years ago…minor bone loss.

Recently he has been exhibiting more cerebral-involvement symptoms.

Will be happy to give more info to help you along!
-kel

Thanks for your message Kelly! My thoughts and prayers are with you. The ALD test came back negative, as my Connor has normal levels of VLCFAs. He has full blown Addison’s Disease and is on hydrocortisone and florinef. He is being maintained on the meds, and is still under going gets to get to the bottom of what has caused my five year old boy to have addisons. It’s s frustrating!

Kelly S. said:

Hi Stephanie:
My husband was diagnosed with Addison’s at about age 7, but was not diagnosed with AMN/ALD until he was 26 – he turns 40 this month. He did not show any ALD symptoms until right around he was DX’d in 1996, and even then it was only additional physical symptoms of aching/pain/numbness in his right leg. With the Addison’s, his energy levels were already haywire – he has been on prednisone & florinef (fludrocortisone) since he was a kid. His doctor has changed around his steroids and the dosages a few times. With long-term corticosteroid usage, you have to watch for bone loss. My hubby has received bone density scans periodically over the years because of these meds; he was DX’d with Osteopenia about 4 years ago…minor bone loss.

Recently he has been exhibiting more cerebral-involvement symptoms.

Will be happy to give more info to help you along!
-kel