Questions for Lauren

[Anonymous]

Hi, Lauren:

I have read your post before, and I would like to ask you some questions. First I need to give you Brian’s brief medical history, he is 15 month old now, he has GERD, feeding aversion, urinary reflux, and developmental delay (gross motor delay – not walking yet, speech delay – only says 2-3 words). It has been a struggle to feed him since he was 4 1/2 month old, we did all the test: upper gi, swallowing test, endoscopy, brain MRI, metabolic work up, and can not find anything except the reflux. We are seeing a ST who has not been very helpful at all (in the process to change another one). We are also seeing a Neurologist for his developmental delay issue, he is not too concern and said Brian may just have low tone, he said even Brian have genetic muscle disease, there are not medication and treatment for it, he also pointed out that it is not necessary to see a genetic md (because he said there is no treatment for genetic disease), but Brian’s ped wants us to see one(because ped said genetic md can find that whether Brian has genetic disease and his prognosis).

Here is my question: 1)in one of your post, you mentioned “The neurologist told us that her lack of hunger/thirst is a neurological disorder (another part of Emma’s encephalopathy). So, we are not to do any aggressive feeding therapy”, How does Emma’s neurologist knows that her lack of hunger/thirst is a neurologist disorder? (how did they find out that she has encephalopathy?) 2)As your experience with Emma, do you think is it necessary to see a genetic md?

Thank you so much for your time!

Sharon

[Anonymous]

Hi I let Lauren know that you posted this here. Hopefully she will reply soon. We see the same geneticist as Lauren and Emma and he has been very helpful, sometimes they will pick up on things that seem unimportant to the other docs. They tend to see the child more as the “whole picture” not just this problem and that problem. As far as treatment, not all genetic syndromes have treatment, but some do, and it is helpful to have a diagnosis so at least that way you have an idea of what to expect. There are a lot of conditions that have some treatment for them. Geneticists are not right for everyone or every child, but we have found ours very helpful.

[Anonymous]

I am not Lauren, but I just thought I would offer my input for what it is worth. I worked as a nanny for a young boy with severe developmental and neurological impairments. His mother took him to a geneticist for the first time when he was 13 years old. (they wanted to find out if his brother would have a risk of having a child with similar problems) They found out he has a specific syndrome and all of his problems are classic symptoms of this syndrome.

It did not change his treatment plan at all, but had they had a definitive diagnosis sooner, they would have known what to expect and what to look out for as he grew.

My advice would be to see the geneticist. Anything that you learn about your child will be helpful. Early intervention is very important so the more you know the more help you can get now.

[Anonymous]

Thank you, Janice and Katey for your reply.

[Anonymous]

Hi Sharon,

Sorry–CRAZY WEEK. Emma has a staph infection, so things have been nutso here.

Okay, here goes:

Emma was dx as having encephalopathy after her initial EEG at around 7 (?) months. This showed a slower brain wave rhythm. In addition, at that time, she was lacking the age-appropriate reflexes, was not eye-tracking, & had hypotonia. She was very ‘distant.’ They felt at the time, her brain disorder was progressive (very scary & stressful time). Thankfully, she is progressing, so they now feel it is ‘static encephalopathy’ which means her brain function will not be the way it should be, BUT she will make her own progress.

Emma has seen her neuro since she was 6 mos old, so he is very familiar with her, her long medical history, & also is in contact with her therapists. With all of that information, he concluded Emma’s lack of hunger/thirst is part of her neurological issues. From Day 1, we had to wake Emma to eat, she does not get fussy when she has to fast for tests, surgery, etc. We offer liquids throughout the day & have tried different varieties, cups, etc. Still, she only drinks 2-4 oz per day. Sames goes with her food, she just won’t eat more than a couple of bites, if she eats at all. Based on her behavior & given her devel delay, that is why he feels it is neurological. Emma’s neurological disorder is complex. This is a RARE thing, I don’t want to freak people out who are having food aversions or other eating issues with their child.

Emma’s neuro was the one who sent us to the geneticist. This came after many metabolic screenings came back normal. I am all for seeing a geneticist. You may go & they say “we can’t see anything obvious at this time…” OR they may have THE answer. Sure, MOST genetic disorders have no cure…BUT, knowing what is going on with your child WILL help. They have found some supplements or dietary changes HELP even some genetic disorders. Also, if it is a disorder that in all likelihood would be passed down to another child, that is valuable information.

The benefit of an answer to us for Emma is the hope of helping via supplements, diet, or future cures. ALSO, it could impact our older daughter Madison should she want to have children. LONG winded, I know. I would take Brian to a genetics doc. Keep us posted!

Take care!

[Anonymous]

Lauren – thank you so much for your answer. I have read your post and Emma’s web site, and I cry everytime when I read them (I cry again when I read your post to Lori today), you are such a inspiration to me, I really need to learn to be patient (which I am really lacking) with Brian as you are to Emma, thank you again.

Sharon Liu2006-4-27 16:9:22

[Anonymous]

Hi Sharon –

I just have a quick question – I saw that you noted Brian’s not walking and not talking as developmental delays. Were those diagnosed by his pediatrician? The only reason why I ask is because Owen doesn’t even have 2-3 words and while our doctor said that was slower than most kids, he didn’t consider it a serious delay and said we would revisit at 18 months. Also, a friend of ours has a perfectly healthy boy who is 3 weeks older than Owen and is still not walking, and although that is considered more of a delay than Owen’s talking, they aren’t considering his a serious developmental delay until 16 months – which I guess is just about now.

I’m just curious – I wonder if some of your concerns stem from your doctor’s diagnosis? I don’t want to seem that I don’t take it seriously at all as that’s not what I’m trying to get at in any way – I’m just wondering as much because of my concerns with Owen’s lag in speech more than anything.

[Anonymous]

Laura – Brian delayed on gross motor skills except roll over (4 month), he sat well at 9-10 month, crawled at 11 month, pulled to stand at 11 1/2 month, and cruising at 12 month, he is still unable to stand alone and walk yet, his muscle tone is weak. His ped referred us to see a Neurologist during his 9 month check up, he had brain MRI and metabolic work up, it is all normal, we are working with PT and will follow up with Neurologist. Is your friend’s son walking yet?

If Owen’s ped is not too concern, I think you shouldn’t be worried. Some kids are just late talker, I know three people who did not talk until 2, and they spoke whole sentence once they started talking. I think Owen will be just fine.

[Anonymous]

Sharon,

Hailey is 11 months old and still isn’t crawling. I’d be lying if I said that I wasn’t worried about it. She can roll, but doesn’t do it often, and she was sitting at 5.5 months. She CAN crawl, and will sometimes do a few (5-6) strides to get something, but that’s it- she doesn’t really do it and then just starts crying and lies there.. For the most part she just moves around her immediate area on her bum and will crawl one or two shuffles to get things. She can go from sitting to her tummy and back, but that’s it. She can pull onto her knees, but not to stand. We see an OT and a PT for it, but I’m also worried. Did your therapists do anything in particular that really helped Brian to start crawling?

[Anonymous]

Sharon – have you had Brian evaluated by Early Intervention? That might be helpful in terms of getting a true picture on whether he is truly considered to be “developmentally delayed” in certain areas or simply on the late-end of normal…I don’t believe a few words or not walking at 16 months would be considered a true “delay” – unless there was more going on – more worrisome signs that a full evaluation could pick up. If he does have low tone, that would contribute to being a late walker, and even a late talker if his oral motor is affected. The question is – does he simply have benign low-tone and will do everything he needs to do eventually, but it will just take him a little longer? Or is there an underlying issue causing the low tone? I’d push to see a geneticist (Andrew was followed until he was 7), and maybe even a different nuerologist – the one you saw doesn’t sound very helpful – as well as getting a comprehensive evaluation from EI. And I say this NOT because I think there is something more going on with Brian – I suggest it to help you rule things out so you can really focus on the best way to help him grow and thrive.

[Anonymous]

Lori – if Hailey knows how to crawl but doesn’t crawl long distant, you can put her favorite toy or thing a little far away, then she need to make an affort to get it, or if she wants you to hold her, then you stand far away and let her crawl to you, she may cry in the beginning.

Brian is a little stubborn boy, and previous PT always taught me exercises which I need to force him to move, so he would cry and scream when we did it. We had first section with the new PT, she taught me exercises which Brian need to do it but he will be unaware it, such as he sits in the stair, then I hold his favorite toy high up, when he tries to reach it, he unaware that he stands up by himself.

[Anonymous]

Thanks Sharon. She just won’t do it. It doesn’t matter what you put out of her reach, she has no motivation and gets so easily frustrated. If I put something close by she’ll move towards it and then if I try to pull it further she’ll get upset. If I put it too far away to begin with then she makes no effort at all. You can see she’s getting irritated at not being able to get around- She whines all day (which is lovely). She can make her way across the room eventually but it’s not by crawling- it’s a combination of shuffling on her bum, falling onto her stomach, getting back up and moving around like that.

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