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Hypotonia and Microcephaly - Anyone else?
Hello.
My son is now 26 months old and the last 20 months has been a whirlwind. At 6 months old, we had our first brain MRI which resulted in a normal scan. We went to have a brain scan because my son was experiencing a significant delay in his motor development. He's seen two pediatric neurologists, an opthalmalogist, an endocrinologist, a geneticist, an ENT, a speech pathologist and a pediatric development specialist in the last year and a half (about 20 appointments total). So far, all the tests that have been run have come back normal (EEG, two brain MRIs, numerous genetic testing, chromosomal analysis, urinalysis, and countless other tests) and we are without a diagnosis. His condition is referred to in his medical chart as having "hypotonia" and also some of his doctors refer to his microcephaly. One of his neurologist mentioned that his condition mimicked hypotonic cerebral palsy but did not want to diagnosis him as that.
His head measurement is below normal and not even on the growth chart. It's measuring about 17 3/4 inches right now. Again, he's two years old and only able to crawl (bunny hop) and sit on his own. He's been seeing a physical therapist since he was 9 months old. It's been able to catch him up to about a 9 month development level. He is just now pulling to stand occasionally. He's only able to stand assisted momentarily (30 seconds).
Each doctor has been unable to provide us a diagnosis of his condition.
Any other parents out there in the same boat???
Thanks,
Melissa
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Replies to This Discussion
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Permalink Reply by Diane Vaughn on
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Hi Melissa~
I'm not sure why the neurologist wouldn't diagnose hypotonic CP. Unless maybe he figured your son is too young? As long as he's getting appropriate therapy, his diagnosis doesn't matter too much. You might check the UCP (United Cerebal Palsy) website for resources.
My son has hypotonia, but it's not really enough to call it CP. I can try to answer any questions you have, though, if you like. Evan was born at 32w4d and was in the NICU for six weeks. We believe his hypotonia might be genetic, my husband seems to he hypotonic as well, although even less so than Evan. :)
Diane.
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Permalink Reply by Sofie on -
Hi Melissa , I read your post and my son too has been diagnosed with microcephaly . He is 18 months old. Our next step will be genetic testing to rule out any abnormalities with chromosomes. His neurologist referred him to an orthopaedic because noticed that he tip toes with his right foot, and the othopaedic said that he has high muscle tone and eventually will need a brace.My son does not quite pick up objects with both hands he mainly used his right hand and has feeding problems , he does not eat pieces of food and everything has to be pureed , also he dos not self feed. He does not talk yet, but can crawl. pull up to a stand and cruise along the furniture, but has had bad coordination especially with his hands and balance . I understand what you are going thru , it is frustrating . It will be nice to share our experiences .
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Permalink Reply by Melissa on -
Hi Sofie. It is nice to hear that other parents are going through similar experience. Not nice about the situation but nice to know other parents are going through the things we struggle with on a daily basis. Raising our son has been extremely rewarding and I'm beginning to see the purpose of it all. It's allowed me to appreciate every teeny tiny movement my son does and to be as patient as possible. He's on his own time table. We through the normal one out the window at 6 weeks old when he hadn't even smiled yet because his mouth muscles were so under toned. We too have done the braces and have been in them for about 8 or 9 months. They have helped tremendously so I think you will see a huge difference when your son gets fitted for those as well.
The feeding issue has been interesting to say the least. We also did pureed foods and soft foods up til about 24 months and then now with the help of speech therapy we are migrating into normal people food. It's also helped that he's been in OT for a few months too. That has helped with his fine motor skills.
The most frustrating is definitely the not being able to walk. He is officially two and a half now. He wants to so badly. He is unable to talk yet but he grunts really loudly when he gets frustrated not being able to be mobile all on his own. He crawls but is not able to cruise yet. I told my husband that when he accomplishes this, we are throwing a "walking" party in celebration. :)
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Permalink Reply by LisaC on
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My son walked at 20 months and, yeah, we didn't throw quite throw a party, but we emailed around that BIG FAT video file to everyone--this was almost 7 yrs ago, and broadband speeds weren't so great. =)
Here he is last year:
Therapy. And his own hard work and perseverance. BTW, he reads almost at grade level, too. =)Don't ever give up on him. His will to succeed, with your support, will take him far.
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Permalink Reply by Rachel Clair Hallam on
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Hello! I think we may be in a similar boat. My little girl is almost three. She didn't sit up until she was 13 months and then went on to crawl and walk, albeit late. She has hypotonia and her balance, coordination and spacial awareness is poor. We had an mri done at 20 months which showed microcephaly and areas of heterotopic (in an unusual place) white and grey matter. She also has absence seizures tho they have decreased as she gets older. The EEG was stopped due to her distress. My daughter has no real speech but makes noises, her receptive language is very delayed and expressive is non exixtant!! Her feeding is still poor but she is making fantastic progress and her chewing of food isn't great so we still mush most meals. We receive excellent help from OT and we have an inclusion support teacher who visits once a week which is really bringing her along. We know she won't "catch up" as such but are delighted to see her make progress. Life is still one huge worry and i agree, it does feel like a whirl wind at times. Hope this is of some comfort!
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Permalink Reply by Melissa on
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Hi Rachel.
It was so good to see another parent with a similar situation. Calan didn't sit up until he was 15 months and we thought he just hung the moon when he finally did it.! We were overjoyed because that opened the door to big boy baths in the bathtub and no more support cushion behind him when he was on the floor. So, your daughter can walk? Does she need the assistance of a walker or can she walk independently? What age did she walk? Between age 2 and 3? We are still not at the walking stage. He is able to crawl pretty fast now and can pull to stand but not often.
We have had two MRI's and they were both normal. I hate going through those. I hope we don't have any more in our future. I've never heard of heterotopic. Can you tell me what that means and what it's causing in relation to her neurological system? We have also had an EEG like you and the results came back slightly abnormal. There was a "single brief burst of suspicious hsarp and slow wave activity of potential epileptogienic significance." The neurologist and his genetisist did not think this was significant since he's not had a seizure to date.
Have you tried to have a follow-up EEG or did they recommend another alternative test for her? Also, what are absence seizures? Are they easily identified? Sometimes our son spaces off and isn't responsive right away but no weird movements. He's been monitored by a developmental specialist but he didn't see anything that we should be concerned with. All in all, I'm sick of doctors, I'm sick of testing...only to get all of them to come back normal with no answers as to why my son has such a significant global delay. I know I should be happy that they are coming back normal but that just brings so much added frustration not to have a reason for all of this.
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Permalink Reply by Rachel Clair Hallam on
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Hello! My little girl walked at around 22/23 months. She is unsteady on her feet and the ot says she has poor balance, spatial awareness etc. Heterotopic grey matter is simply grey matter which is in the wrong part of her brain. Absences are difficult to detect but we find sometimes we talk to her and she continues staring and we can't seem to get her attention. How old is Calan? Orla doesn't have speech yet at three but we do believe she will speak at some point. I think it's Carrie who speaks of the fish test. Orla is having a test at the moment to see if she has specific syndrome caused by a microdeletion. I know how you feel about the testing, it's like being on an emotional roller coaster and like you i'm never sure it i'm supposed to be happy by negative results! Take care x
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Permalink Reply by Carrie on
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have you had the "fish" blood test done, it detects even microscopic chromosome deletions, both my kids have slight deletions which have led to delays and smaller growth
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Permalink Reply by Melissa on
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Carrie, thanks for the suggestion. I am going to bring this up with his geneticist which we see every 6 months. We go back in later this Spring so i am going to mention it to her. We have had a macroscopic chromosome analysis as well as a microscopic chromosome analysis performed so I'm not sure if that was the same test you mentioned above but I am going to ask. Thanks so much!
On a side note, how did you go through the blood draw? We've had two so far in my son's two and a half years and let's just say that it was a nightmare. This time we hope we get a nurse with LOTS of experience.
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Permalink Reply by Carrie on
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the blood test is also known as the signature CHIP analysis (there is a lot of information on line about these tests). And yes, the blood tests are very hard on children that small (and even harder on us). I am not one to complain but have learned through experience to ask for someone with a lot of experience before they even attempt to draw the blood. You won't hurt their feelings and that is your right as a parent to ask. It is very frustrating to see doctor after doctor with no "real" answers. The last neurologist we saw said that we would just have to learn from our kids as they grow up as far as their delays, etc. (what kind of answer is that???) Anyway, I dont know what area you live in, but if you have access to specialized childrens hospitals or clinics as far as the blood tests, they are usually much better.
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Permalink Reply by kelly schaffer on -
we have a son now 30 months old under a neuroligist and therapy services since 6 months old. they said macrocephly and hypotonia. mri done every 6 months show a benign growth at 1 yr old we still now have NO diagnoses the good news is he graduated pt at 23 months. and does well now speech is still bad and fine motor. he also seems to have a memory and or comprhension problem the best advice i ever got was from the specialist. he said we know 20% of the brian the other 80% is a mystery. enjoy your son daily we may never know what is wrong good luck
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Permalink Reply by Tannis Ross on -
Hi Melissa, my name is Tannis.
Your story sounds somewhat familiar to me. The whirlwind part and the discovery that seems to take forever. My daughter has hypotonia as well, decreased core strength. She does have a chromosome anomally and because of it, has a learning disabiity. She is now 11.
I do remember in the first 2 years of her life, having so many specialist and doctors appointments and being so overwhelmed. I wish I actually wrote more of it down. I also remember before, during and after her diagnosis, meeting many doctors who very casually would guess as to what was wrong with her by throwing around conditions and words that meant nothing to me. Only later to go home and look it up on the computer and spend the rest of the evening crying and worrying.
Stay strong, take advantage of all and any resources available and ask lots of questions. Good luck, and glad to see you as part of Hopeful Parents.
Tannis
p.s. I also blog now about my life with my daughter, if you would like to read me, I am at www.momentsintimewithtannis.blogspot.com . Reading what others have to say has always helped me and given me a new perspective. Perhaps you will start your own blog to help yourself and others?
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