Understanding My Childs Health

[__Kyrie0619__]

Hi,

My name is Jessica. My newborn Child was diagnosed with X-linked Adrenoleukodystrophy back in June 2018. I was devastated and heart broken, all I could do was cry. I had 3 family members diagnosed with this same disease,one being my father that passed away in 2014 at the age of 44. My older cousin was diagnosed at the age of 10,he lived with the disease until the age of 31. I also have another older cousin who is still living but it still functioning, as far as walking and talking he is currently 32. My son was the first case in Florida since they added this to the newborn screening back in May 2018. He turned 2 Months on the 19th. I really want to meet other families going thru the same situation and learned more about this.

[AussieBob Moderator]

You have great life saving options open to you Jessica. Who is your doctor in Florida? You should have been told this. if your father had ALD then must have it which should have also been told to you. I know that sounds cold and unfriendly but it is not meant to be. I can link you to some wonderful caring experts on the East coast if you like. I am happy to talk to you if you wish me to ring. Please do not despair your son does NOT need to die at all. There are plenty of families that I can connect you with who know this journey as do I. My email is [e-mail] and if you email I can give you families contact details which I cannot here. Three websites to contact are ALDConnect .com, bluebirdbio.com who are doing all the great genetic work and a must site is adrenoleukodystrophy.info Please make contact as you will not be left alone and there are many wonderful people who will always help you through this tough time. I can also connect you with the best clinicians in this field. I am a dad whose son had ALD in a time when there were no options. I also have a website that needs a lot of updating which I am trying to get done. leukodystrophyresourceresearch.org My warmest thought to you and all of your family. Aussie Bob

[__Kyrie0619__ in reply to AussieBob]

Hi Bob, I am open to ANY type of information you may have. I have 2 other boys ages 9 and 7. They were recently tested and the results came back negative (I was very happy). The Dr That My child sees is at USF (University Of South Florida College) here in Tampa. His name is Christopher Griffin. He called me yesterday and provided me with phone numbers to a Neurologist and Endocrinologist in the same building. But since he is not 6 months yet they really won't do anything as far as medication and things. But just to give you a little background on how this disease started in my family. My paternal grandmother carries this disease and it passed along to my dad. I was surprised my uncle did not carry the disease because they were twins. My dad went to prison from 1992-2002.He showed no symptoms until 2004/2005. That was just body pains and stiffness. Then 2006-2008 He started limping with his walk where he had to use a cane. Then his Dr recommended him to fly to Boston where he was given the Lorenzo Oil (which didn't help). In 2011-2012 he slowing stopped remembering things. Then he could barely walk, then barely talk. By the end of 2012,he was bed ridden. Then 2014 he passed away. So to know that it was passed along to me I just honestly feel like I cursed my child. My email address is [e-mail]. So if you want to send me anything I'm open to it. Once again Thanks!

[AussieBob Moderator in reply to __Kyrie0619__]

Will do

[AussieBob Moderator in reply to __Kyrie0619__]

Have you visited the websites as suggested? All the answers are there. Do not listen to mumbo jumbo

[__Kyrie0619__ in reply to AussieBob]

Yes I Actually Did.. I Keep Seeing Info About Gene Therapy. Are You Familiar With This??

[AussieBob Moderator in reply to __Kyrie0619__]

Yes very familiar my friend

[fightald Partner in reply to __Kyrie0619__]

Just checking in to see how you and your son are doing.

[KerriDeNies Moderator]

Hi Jessica!

I am here for you and also going through the same situation finding out through newborn screening in California. My son just turned 2! Please feel free to contact me anytime with questions or if you just need to talk:). We are all here for you and there are so many to help guide and support you! Your son is beautiful! ❤️

Kerri

[__Kyrie0619__ in reply to KerriDeNies]

Hi Kerri, thanks so much. I have a question for you. My aunt who is educated about ALD (due to my cousin having it for so long) she was telling me about a powdered milk called Portagen. She states this is the milk I should be giving my son. Did they require you to change his milk?? And they also wanna start giving him hormone medication, how did your son deal with that? Because when I went to a ultrasound appointment that's when they discovered Cyst on his right kidney. So after finding out that he was diagnosed with this on top of that was hard for me to deal with. I feel like I cursed my child with this disease. Especially since I know there's no cure for it.

[KerriDeNies Moderator in reply to __Kyrie0619__]

Jessica,

First off, please don’t feel that you cursed your son. I have my days where I feel that way too, but if you didn’t know it’s not your fault. And yes, this is a very treatable disease. Only if your son became symptomatic would he need medication and or treatment. If your son gets monitored and blood work and checked by an Endocrinologyst for his adrenal glands every 6 months and also have an experienced Neurologyst and recieves MRI’s following the protocol, they can catch it before symptoms would begin. There is cutting edge treatment such as gene therapy that will be available soon!

I have never heard of starting any hormone medication before being symptomatic. I would talk to an experienced Endocrinologyst first. We are in a completely different situation than an adult or older child finding out, since this was caught at the time of birth. Please use caution regarding starting any treatment if your son is so young.

There is not enough evidence yet regarding nutrition to say much about diet. I can send you links on nutrition information that I have found through research, however the leading neurologyst my son and I see says stay away from processed foods and eat a healthy diet. Some say a low fat diet is best, but it is also very important to have enough good fats the first few years of a child’s like for brain development so nursing or whole milk is good. I just recently switched to 1% milk and low fat cheese instead of whole milk, etc. saturated fats I try to avoid as well. The milk you are talking about is that a holland brand, grass fed formula? If you are not nursing, let me know and I can help you research good ones I tried to use when I didn’t pump enough before work. My son would hardly take a bottle Until 18 months! 🤣

Stay strong! We are here for you. Janus & Elisa who are the leading advocates for ALD have lots of insight as well! They paved the way for us to have this knowledge

Kerri

[__Kyrie0619__ in reply to KerriDeNies]

Omgeee Kerri, You just made me feel A LOT BETTER. His Dr is located at USF (University of South Florida College) here in Tampa. He called me yesterday to set up Dr appointments with the Neurologist and Endocrinologist. But You really made me feel better. Can you please call me so I can get to know you better. My cell number is 813-378-9414. I'm off today and tomorrow.

[__Kyrie0619__ in reply to KerriDeNies]

Hi Kerri!! Just checking on you and your son. I have returned back to work, that's why you haven't heard from me but I will be texting you soon. Take care

[KerriDeNies Moderator in reply to __Kyrie0619__]

Hi Jessica!!! Awwww thank you sooo much for checking up on us! We are doing great...Gregory is turning into a real 2 year old! He is non stop! How are your babies? Thinking about you...I know going back to work with a little baby is hard! Contact me anytime

Kerri

[Kumar429]

Hi Kyrie. Hope your son is doing better. My name is kumar, my son was recently diagnosed with ALD through Newborn screening in Georgia.I do understand what you have been through. I just came across this platform. I would really appreciate some insights from your journey.