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Confused with son's diagnosis; are there male carriers?

Js_Mommy
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My almost four-year-old had an MRI at 3 yrs 9 mos which showed "mild delay in myelination." The degree is that it should have been fully myelinated by age two. We then had him tested for the leukodystrophies even though his developmental problems have been consistent delays since birth and are improving with therapy. We received the results today at which time the neurologist said that he does not have a leukodystrophy, but that at some point he should be tested to see if he is a "carrier" (his word). How can a boy be a carrier of x-linked adrenoleukodystrophy?!

Given that I can find no information which would indicate that a boy could be a carrier I am concerned that he does have some form of this disease. The results note that all was within normal range except the C26:0, which was 1.82 with normal being <=1.30; the C26:0/C22:0 ratio is normal, but is very close at 0.022 with normal being <=0.023. The last line of the comments is: Consider sending another sample to repeat the analysis to rule out hemizygosity for x-linked adrenoleukodystrophy.

Can anyone help me decipher this result?!

Explore topics in this discussion:

Leukodystrophies Stroke Leukodystrophy Cerebral palsy

14 replies

bnkg

Don't sit on these results. I am not a doctor, so I can't help you interpret the data, but I would contact Kennedy Krieger Institute in Baltimore. They are the ALD experts. I have, by the way, never heard of a male carrier. But, an elevated C:26 is an indicator of ALD. Kim Hollandsworth is the research nurse at KKI and her number is 443-923-2772. Her email is hollandsworth@kennedykrieger.org. The neurologist there is Dr. Gerald Raymond and his number is 443-923-2773. I can't remember his email. However, if you contact Kim she works hand in hand with Dr. Raymond and they can help you figure this out. Good luck.

Js_Mommy

Thanks so much. I wrote Dr Raymond already, but I think I'll send a copy to Kim Hollandsworth, too. I hope I'll hear back soon1

Js_Mommy

Thank you again for your reply. Dr. Raymond wrote back to me immediately and confirmed what I thought and my husband had found out from a professor of biology at his university. Males can not be carriers unless they have the exceedingly rare condition of having two Xs (XXY), which is another condition in itself. Dr. Raymond recommended doing another sample and added a couple of other tests that we could possibly do.

I have already called my own neurologist (it does affect me as a possible carrier, too) to see if we can get our son in with their pediatric neurologist as soon as possible. I do not trust our current one given that he could not read these results accurately. Only made a follow-up appt in six months. Thankfully, I did ask for a copy of the results or we would not know specifically what it notes as he clearly stated that 1. he doesn't have it and 2. he could be a carrier, using that word specifically. I'm so glad that my mother went with us because she remembers him saying exactly the same thing.

bnkg

Good luck figuring this out! As much as it stinks that you have to worry about this at all with your little boy, I really believe that knowledge is power. I think the hardest part is not knowing. Once you figure out what exactly you are dealing with, you can face it head on. Until then, I suggest you not stop until you figure this out. You are your son's biggest advocate, and you need to do whatever you need to do to get the answers he needs. Best of luck to you. You will be in my thoughts. Happy Mother's Day.

Js_Mommy

Thanks so much. I wish we'd found out AFTER Mother's Day AND his birthday (and party) next week AND the last week of preschool AND a big trip to see the in-laws as soon as school is out. It's hard celebrating all of these events wondering about it!

My husband did call the neurologist who had his nurse return his call. She said that he did not recall saying he could be a carrier. I am certain, as is my mother, that that is precisely what he said. So, now we're going to look for a new neurologist in either Atlanta or Jacksonville, as there is no other pediatric neurology group here. The one at my neurologist's group is no longer there. So, I've made an earlier appointment for myself hoping she'll test me as a carrier, and we'll get those results back sooner than we will trying to get in with a new neurologist for our son.

jolocny

Thank goodness you're looking for a new doc! I so wish that the medical community would get the leukodystrophy testing straight ... and realize it's a very real disease and worth knowing about.

Having gone through 5 months of testing prior to diagnosis, I understand your distress of the unknown! Have you considered attending the ULF Conference this July? If you contact them and bring all the test results, MRI films, etc. the finest doctors in the world will sit down and review them and give their opinion, if not confirm a diagnosis.

While these troubles never wait until a 'better time' to come up, it's so important to keep things as normal as you can for him. I'm sure I'm not telling you anything that you don't know already! Yes, he IS a special child, but it's best for all that you all learn to work WITH whatever is happening and do all the regular family things as long as possible ... so having the birthday party, going to visit can be the best for all of you. I know a lot of the kids excel when treated as 'just another part of the family'. Heck, I know I do [and I'm an OLD kid!]!

Do you have any family history of 'this type' of disease? So many have been misdiagnosed in the past it can be hard to know.

I can't say that I know what you're going through with your child ... my daughter (age 25) and granddtr have tested negatively as carriers, my son (age 30) still won't test. Yes, that's a huge concern for me but he's got to make his own decisions about it. I cried for 2 days just from relief when we got the results for the girls!

I'm glad that you're in contact with KKI ~ they'll guide you in the right direction.

All my best to you and your family ~ please stay involved with this forum and you'll get lots of support!

Js_Mommy

I've read several people who say their children don't want to know. I can't imagine not knowing if I thought there could be a problem. I'd just be assuming the worst.

I don't know of anyone in my family who might have had something like this, even undiagnosed, but don't know much about my mother's side of the family past my own grandparents. I do exhibit minor problems that could be those like some carriers experience, but they could also be attributed to separate issues. If I were really healthy right now I'd be less concerned, I guess.

Our son has been getting progressively better over the past few years with time and therapy. It was only a few months ago we consented to the MRI, as I did not want to sedate him when he was so young since he's also on the small side. (He's just starting eating some solids and will be four this month!) Also, the neurologist had said we'd just continue to "treat the symptoms," but I did not know about ALD. The child psychologist thought he might have "mild, flaccid Cerebral Palsy," which is what I thought he had for the last year until the MRI.

We are holding him back in his preschool class next year (they group by age so he'll just be a few months older than the others) so he can get caught-up with these developmental delays, particularly articulation of speech. I'm just thrown since I thought it was all getting better and would not get worse in the future. I really need to know what those results mean. Are there other conditions that would cause part of the lipid profile to be elevated?

Debinmoon

Dear One,

I am so glad that so many concerned and knowledgable people have guided you in a direction that will help you make better choices for your son.

My son was not diagnosed with leukodystrophy in 2005, after being ill since 1993. by that time there was very little we could do....so, I am so glad you contacted the Krieger Kennedy Institute and do contact the United Leukodystrophy people. they are so great.

I had so many different neurologists over the years say the most amazingly untrue statements, so my only advice is to get with a doctor you really trust and it wouldn't be a bad idea to ask to speak with a geneticist.

You are your son best advocate and information is power...alos, just lots and lots of therapy for your son, keep him moving and flexible. I will send you and your son a special blessing. Best of luck to you both.

Deb Dennison

bnkg

J's Mommy,

Believe me, I understand just wanting to enjoy your son and not having to worry about what could be wrong. i encourage you to celebrate him and all of the special events going on right now!! He deserves it!

On the flip side, you do have to keep perservering for answers. If this could be a leukodystrophy, it could be a time bomb, so to speak. The faster you figure it out, the better the chances for stopping progression of the disease.

I forget, did you talk to KKI?They could really help you figure out the best direction to go in, and may even know a neurologist in your area to send you to.

What are your symptoms? If you got a simple blood test (maybe through KKI) you would know immediately if you had an elevated C:26 level which would indicate you are a carrier. Maybe that's a route you could take while you are figuring the rest out.

I know it can be hard, but keep your spirits up and love that little boy! That is the best advice I've ever gotten. And, while it can be a difficult job to be a mom sometimes, it is always easy to love your kids! Have a great day! Thinking of you!

Js_Mommy

Well, we did enjoy all of the festivities. J turned four today. We'll have the family birthday dinner tonight. This is the first birthday he's been able to eat some of his own birthday cake now that he's eating some solids. What a wait that's been!

And... we're still waiting on the neurologist. My husband took a letter to his office on Friday and asked him to contact us by today. I did visit my own neurologist who recommended seeing the other pediatric neurologist in our group, as there are no others in town. We'll ask for that today if ours does not contact us. We can go to a larger city, but just wanted to go ahead with the recommended tests as soon as possible. So far all we've gotten is a call from his nurse telling us that he didn't recall saying "carrier" (we are CERTAIN that he did) and it was a mistake, although I don't even know what she meant since my husband took the call.

I did contact KKI and Dr. Raymond wrote me back immediately. He recommended several other profiles to add to the test and also mentioned a fasting test. Our son had not been fasting when he had his blood drawn for the last test. We're hoping that's what caused the elevated level.

Js_Mommy

Oh, we decided not to test me as a carrier as women can have false negatives, so it wouldn't tell us anything for sure if it came back negative. We really just need to get our son properly tested first.

bnkg

Happy Birthday, J!!!! You must be ecstatic that he got to enjoy his cake! I'm sure you took tons of pictures! It sounds like you've had a long journey to get to this point. I am thrilled for you that he seems to be doing so much better. I would, however, keep persevering until you get the answers you need. While you are doing that, try to enjoy every moment! Our kids grow and change far too fast! Thinking of you.

Js_Mommy

Thanks!

By a weird stroke of luck (if you can call it that about this issue) I've found out that a relative of an acquaintance has ADL. She knew about J's delays, and I told her about the new issue we're facing a few days ago. (I'd avoided telling many people because I didn't want everyone even alluding to it on his birthday.) She said she'd pray for him and asked what it is specifically. She wrote down adreno-leukodystrophy in her checkbook, looked-up and told me her relative's son had it. At first I really thought she must be confusing it with some other disorder until she started talking about seeing a geneticist herself. (They did not need to test her son, fortunately.) I hope I can get in touch with her relative soon and see which doctors in the area they might have seen and recommend.

I'm still mad at the neurologist for not getting back in touch with us and causing me such a stressful day on J's birthday. Either way we'll be getting in touch with someone in the next 24 hours since my husband will be calling to see the other doctor in his practice if he doesn't call us back by the end of the day.

Now, I'm going to try to enjoy the rest of the day and his dinner tonight!

Js_Mommy

Woohoo! The doctor finally called (well someone from his office) and said they'd fax the lab order to my husband at work so we can take him tomorrow. I'm so relieved that I can enjoy this night more and also he can get this done before leaving town Saturday for eight days. I really wasn't looking forward to having to wait through that trip!

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