Hypotonia-trying to gather thoughts & awaiting MRI results *UPDATED*
ougrad1
member
I spent last night reading through many pages of posts on this board and thought I might ask, as you ladies are an amazing source of knowledge and support.
A little background...Landry is a twin, born at 34.6 wks and spent 14 days in the NICU for growing and feeding. She did have two apnea spells that she was able to recover from on her own.
She has always been slow with her gross motor skills. However, she is leaps and bounds above my other children as far as language goes. She started walking on her knees about 19 months old and last Saturday she began walking on her feet, for the most part, at 21.5 months old.
She has been seeing a PT, once a week, for six months and was diagnosed with Hypotonia-she has terrible balance and startles very easily. We had her MRI this past Thursday. At the initial visit with the Neurologist her blood work and x-rays came back normal.
Since she started walking last Saturday we have noticed that she is walking on the inside of her feet. She is still depending on her knees about 50 percent of the time for walking. We have ordered Orthotics, per the PT and are waiting on those.
Anyway, I have been reading up on it and think it's interesting that Hypotonia can be caused by kernicterus, when the mother is RH negative and the child is RH positive. I am RH negative but, have no idea if Landry is positive. I also, read that it can be genetic. I did do CVS testing on both pregnancies. I would think that any genetic issues would have shown up with the CVS testing but, who knows at this point.
It seems to be confined to her legs and feet. I guess I am just trying to sort the information that I've read out in my head waiting on the MRI results.
Is anyone dealing with Hypotonia? What is your prognosis and what are doing that seems to be working well for your kiddo?
Thank you so much for any and all thoughts and if you want to ask any questions to help answer this post-fire away!!!!
Re: Hypotonia-trying to gather thoughts & awaiting MRI results *UPDATED*
When are you getting the MRI results back? It could show nothing wrong, but it could show something. You won't know until the report comes back. When DS2 (2.5yr with CP) had his MRI done, we actually had the results the following day.
Do you still have your discharge paperwork from the hospital you delivered Landry at? On ours, it stated their blood type (along with the + or - part of the blood type). That may give you an answer as if she is positive or negative for the Rh factor. Otherwise, I think a simple blood test (maybe finger prick?) could reveal her blood type. I would also think the hospital or your pediatrician's office or someplace has her actual bloodtype on file.
Is her hypotonia site specific on her body or is it general low tone throughout her body (just curious)?
As stated, my son has CP. He has hypotonia in his trunk and hypertonia in his arms and legs. He wears orthotics for the same reason - he pronates badly. He had DAFOs first (Cascade Jumpstart Bunny) and is currently in a custom SMO. In the future he will wear a taller AFO. A word of advice is to not buy shoes until you actually get the orthotic. You will probably be having to buy new shoes. Take Landry with you when you go to get the shoes. We use New Balance and Stride Rite. There are other shoes out there made specifically for orthotics but I didn't feel like spending the money on those when something else worked for us.
I hope you receive the MRI results soon. Let us know what they say about it!
That RH info is interesting. I have never heard of that before. I am not RH neg but my mom was. I was walking at 9 months old. I guess I did not get kernicterus.
Here's the thing about CVS that nobody ever tells you. It is a visual look at your child's chromosomes to count how many pairs they have. If you have too many or too few it will notice. If there are deletions, they have to be at the ends or huge enough to make a difference in the overall length of the chromosome leg and that difference in length has to be noticed.
Nate has 3 intersitial deletions that were not picked up by CVS. They caused a lot of problems. CVS will also not pick up any mis-spellings in your chromosomes. Mis-spellings mean the "code" is there but it is rearranged. These can cause problems. Sometimes the mis-spelling end up being more "spice -of-life" type things. Sometimes mis-spellings can cause huge things. Just because you have a CVS does not by any means means your child has a clean bill of genetic health. If you want to be sure you can see a geneticist and have a micro-array done.
Nate has hypotonia. Your muscle tone in medical terms is not the same as muscle strength. Tone is the "at rest" position of your muscles that make you ready for anything that comes your way. If your at rest muscle tone is low it takes much more effort to move because the muscles are relaxed more than they should to be.
Gaining gross motor skills works from the core of the body out, so it makes sense that your DD was knee walking before she was able to walk on her feet. You can do extra strengthening on your muscles to make up for the lack of tone. So it takes time. It is awesome your DD is talking already. The whole speech area is also a function of muscles and motor planning.
I heard a great quote the other day. "You Walk with your Brain" When your brain is ready and has the neural pathways set up correctly it will walk those legs.
Nate just started walking a few weeks ago after a 4 week intensive therapy program. He had been using a reverse walker since September. I think the program got his little muscles strong enough to overcome his tone issues. He also has some tightness in his spine and ribcage. It is super difficult for him to make minute adjustments for balancing. The PT at the program also worked on trying to massage some of the tightness out of those areas so the brain could get the neural pathways correct for balancing. The muscels were loose long enough for the brain to go "ah Ha!". Maybe something like that could be going on with your DD too. She could have mixed tone.
Chances are your DD did not have kernicterus, that is why NICU's treat jaundice and don't let levels get too high or if they do they intervene with exchange transfusions and such.
My DS has mixed tone and very mild CP. His muscles are functionally weak but also tighter / more stiff than they should be. We did Bowen therapy and Chiropractic along with PT to get his muscles pliable and strong enough to be functional. He now does not qualify for PT and can run pretty fast and ride a trike. Therapies do work, he walked at 14.5 months but without help I am sure he would have been at least 2.
I agree with the microarray genetic testing suggestion if you are interested.
Good luck!
I agree with PP that kernicterus is rare, especially for a child in the NICU. It's why they do heel sticks to check bili levels and preemies are generally automatically put under the bili lights.
The funny thing about genetic testing is that no matter how comprehensive they tell you it is, it really isn't.
We had a karyotype done on DS. It was normal. Then we had a microarray to test for thousands of genetic disorders. It was normal.
Turns out he has a teeny tiny little nonsense mutation on one little protein in his x-chromosome. It causes hypertonia, microcephaly, seizures, vision loss, hearing loss, mental retardation, etc. One little tiny substitution can cause a huge host of problems.
Sometimes, hypotonia isn't genetic, it just is. Sometimes, you can't find a reason for it. Despite all of DS's issues (and his hypertonia is SEVERE) he has completely normal MRI's.
I am digesting everything you guys are saying. CP has been on my mind but, I don't look at her at all and see anything going on except the walking issues. Like I said, she is a smart cookie and can carry on a conversation with you. Maybe I need to dive into researching CP a little more. Would the MRI show the CP diagnosis?
We should find out the results of the MRI tomorrow.
Keep talking to me...I am digesting everything you guys are saying. CP would be very surprising but it has crossed my mind. I may have more questions about this.....
CP is a clinical diagnosis. It generally just means "delay in the brain". There is no diagnostic test to check for it. If the MRI shows area of damage they may automatically give you a CP diagnosis. There is also the myelination of the brain (that's the white matter that helps transmit the signal through the brain). However, myelination devlops throughout childhood so having delayed myelination in toddlerhood is normal.
Unfortunately, right now I'd just wait to talk to the nuero and find out the results of the MRI. You don't know where to go until you have those results.
And CP is a VERY varied diagnosis. In some people it causes physical delays while having no affect on cognition. While in others it can cause global delays. The brain is a crazy organ. In the first 2 years of life it doubles in size, the only time it will ever happen. So if there was damage, the brain can grow so fast that it can create new pathways and new matter to "overwrite" the damage. It's why therapy is so important in early intervention. By training the body to do something in the correct manner you are helping the brain strengthen the pathways to that particular movement and muscle action. By repetitively strengthening these pathways you have the possibilities of making them the dominant pathways, thus gaining new skills, etc.
One of my twins has CP which for him has resulted in hypertonia in his legs and hypotonia in his trunk. As of now his only delays are in gross motor skills. When we left the NICU he had an MRI that showed increased signaling in the peri ventricular white matter but he was not diagnosed until a year later (by both a neurologist and a physiatrist). As PPs have said CP is a clinical diagnosis so if that is the case with your DD an MRI won't give you a definitive answer but it can point the clinicians in the right direction.
My son's CP was not seen on MRI but it was a diagnosis of exclusion after thorough work ups without any answers. We brought the neurologist a slideshow of pictures and videos showing DS' differences (this was a second opinion when he was 2 years old); anyhow she made the diagnosis based on the media we brought and not how he presents today because he has improved so much. Our situation is probably unusual.
We joked that we hoped DS had CP as we highly suspected it for quite awhile; this was because we know several people with CP with Master's degrees - obviously they can be successful intellectually.
You may never get a cause for the hypotonia. We have been going through testing for over two years with many different specialists, many different genetic, metabolic, and even spinal fluid tests. No answers.
We do call it CP, but you may hear CP called a "garbage pail" diagnosis because it is very vague. It basically means something is going wrong in the brain to cause muscle tension problems. Doctors have said, "Sure, you can call it CP, but that does not really tell you anything about what is actually causing it or what the prognosis is." For some people, an MRI gives clear answers, for many others (like us) it does not.
I just want to make it clear that some people never get answers. This was hard for me to accept, and I think the sooner people can understand and accept this, the sooner they can move forward emotionally. Sometimes no answer is better than the other possible answers. We definitely still see the specialists and try whatever appropriate tests come out, but we have let go of our former expectation that doctors are supposed to always "figure it out and give you a cure."
Hope this is helpful.
CP really just means unusual muscle movements due to a brain injury. It can be extremely minor in which case it's rarely given as a diagnosis or extremely severe. Very few muscles can be affected or many. DS is mostly low tone with a little higher tone in his legs and arms. He was entirely low tone early on and then slowly started getting a little tighter. He is slightly delayed fine motor wise, very delayed gross motor wise, a large portion of which appears to be from fear. His MRI showed very minor findings, but some kids can have significant damage with very little issues. He has no apparent cognitive issues and talks better than the vast majority of kids his age. So it really just depends.
Generally the diagnosis doesn't tell you a whole lot though it can help confirm you're on the right treatment path (I.e. DS doesn't need speech just because he has CP since he has no speech issues). There are a ton of other reasons a child can have hypotonia though.
As a pp said, CP is a clinical diagnosis only. Some people with CP have completely normal MRIs. PVL is frequently seen on an MRI though but again, CP is basically diagnosed via case history. There is not an actual test for it. There can be accompanying visual, hearing, intellectual, speech, or learning disabilities.
There is a wide array of how CP affects children. Some are so mild you wouldn't know while others are wheelchair bound and quite severe. While others here have children that can walk, DS2 (2.5yr) does not walk independently (we have a reverse walker to assist him), can only independently sit in the "W" position (and for maybe 30min one a short bathroom type step stool), has vision issues, potential hearing issues, crawling is his main form of mobility, and does some cruising, has little to no protective reflexes, etc. He is mostly delayed with gross and fine motor skills. From my description he actually sounds somewhat severe but in actuality he is mild to moderate (probably more moderate).
From the CDC website: Cerebral palsy (CP) is a group of disorders that affect a person?s ability to move and maintain balance and posture. CP is the most common motor disability in childhood.
I have mono/di/di twins and one has hypotonia other neurological issues and the other does not. Why? I don't think I'll ever know. I am certain that there was some impact on him (he was Baby A) from having his brother on top of him for 9 months.
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Her MRI came back normal so, I guess we will continue with the PT, get our orthotics and I think we will also go see a foot doctor as well.
Thank you for all your feedback. Sending well-wishes to all of you ladies.
Are you seeing a physiatrist? I would recommend that, ours has been so crucial to DS's care. They kind of oversee how the muscle and skeleton work and they are extremely helpful with tone issues.
Ours is who has prescribed our orthotics, gait trainer, knee immobilizers and does Botox injections.
GLad to hear everything is in the MRI is "typical".
I also second a physiatrist. I asked on of Nate's PT's if he should be seeing an orthopedist or a physiatrist and she said a physiatrist would be a better fit for him. Both the prescribe and fit orthotics. Ortho's seem to be really focused on the solution rather than the cause if you get my meaning. Plus they are skeletal specialists. You need a muscular system specialist. Good Luck!
The PT didn't like the idea of the ortho today. I will text her and ask abt the physiatrist. Thank you...