Our family's journey with deaf-blindness, multiple disabilities and undiagnosed genetic disease...stories, updates, mental notes and spiritual reminders to help our family stay grounded in faith and focus on the facts as we navigate the mysteries and uncertainties of our little boy's health.
Sunday, February 26, 2012
Splish, Splash!
Monday, February 20, 2012
Do-it-yourself deep pressure vest
At physical therapy a while back, Mason tried out something called a Bear Hug Vest. It was great because he has low body awareness (he can't easily sense where the parts of his body are in space, or what muscles to activate for different movements) - so the compression vest gives him that input he needs for his upper trunk to make it easier for him to sit (which he fights aggressively and tries to squirm down in that position), bear weight on his legs (for brief periods against a chair or couch) and play upright.
The actual bear hug vests range from 75-250 online so I adapted an idea I found online to make him one myself. The idea suggested using a $5 neoprene waist slimmer belt from Walmart but when I got there to buy it I found something that is even better for a small guy like Mason -
a two pack of thigh slimmers (also neoprene) by Gold's gym.
I used the first thigh slimmer (which fits up to 38") as the trunk wrap exactly as it came out of the box. I cut the other slimmer in half down the middle about halfway to make shoulder straps; I sewed a square of velcro to one end and reinforced the velcro square that came with it on the other end (since I had to cut it in half). Experts say to use nylon thread but mine worked out okay with all purpose ... I would recommend using thread in the color of the neoprene for a more finished look but i was just trying to make it functional.
It makes for a very custom fit and seems to work well! Just wanted to pass this idea along since it was so easy and inexpensive...much more accessible than the pro versions and does basically the same thing. Those of you who sew better (not me!!) could really make it cute too...
The actual bear hug vests range from 75-250 online so I adapted an idea I found online to make him one myself. The idea suggested using a $5 neoprene waist slimmer belt from Walmart but when I got there to buy it I found something that is even better for a small guy like Mason -
a two pack of thigh slimmers (also neoprene) by Gold's gym.
It makes for a very custom fit and seems to work well! Just wanted to pass this idea along since it was so easy and inexpensive...much more accessible than the pro versions and does basically the same thing. Those of you who sew better (not me!!) could really make it cute too...
 |
| Look mom...no squirming.... but this sitting thing is gonna take a lot of practice before i will agree to do it by myself... |
Tuesday, February 14, 2012
News (Good or not? God knows.)
Mason had his CT scan yesterday morning to determine if he has craniosynostosis (early fusion of his sutures in his skull)...
GOOD NEWS...
The CT itself went great (Mason LOVED the laser light show during it!) and the results show that, to the neurosurgeon's surprise, he does NOT have craniosynostosis!! All of his sutures are still open :)
The "good" part of this news is that he is spared the brain surgery and does not have any evidence of elevated intracranial pressure, which we are VERY relieved to hear (he's had 8 seizures in the last 30 days or so, which is the first time in over 5 months he's gotten them so we were able to rule out high pressure being the problem - most likely it is a change in meds (going from generic Keppra to name brand and back since the end of Dec - in theory this shouldn't cause problems but in actuality and according to new studies just out last year, it does make a big difference - even generic to generic) so we are just going to stay the course and try not to change much on him in the future; it may also have a sinus infection component but we're treating that w/ Biaxin just in case); given his immune dysfunction and how easily he gets infections, the idea of cutting open his skull and putting his entire nervous system in jeopardy, not to mention subjecting him to more fentanyl/pain meds....made us wince to think about, so we are THRILLED he gets to avoid this surgery because of all the risk it carried.
NOT SO GOOD?
The other side of the coin in the situation is that, if he'd "only" had craniosynostosis, that was repairable and his head could continue to grow normally after the surgery to release the fused suture (his head circumference is so tiny as to not even be on the growth charts). Instead, he has a new diagnosis that is generally untreatable: microcephaly. We aren't sure if we'd rather have brain surgery or microcephaly based on what we have read. At Wikipedia the description says:
"Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life. The disorder may stem from a wide variety of conditions that cause abnormal growth of the brain, or from syndromes associated with chromosomal abnormalities (Mason has a chromosomal deletion). Two copies of a loss-of-function mutation in one of the microcephalin genes causes primary microcephaly.
"In general, life expectancy for individuals with microcephaly is reduced and the prognosis for normal brain function is poor. The prognosis varies depending on the presence of associated abnormalities."
Mason has many "associated anomalies" but none of Mason's other "issues" appear to be life-threatening other than his low immune system which is being treated as aggressively as possible with antibody infusions weekly. So ... we are going to hope and pray that he is one of the ones who is minimally affected ...
According to MedicineNet, "Depending on the severity of the accompanying syndrome, children with microcephaly may have:
Some children with microcephaly will have normal intelligence and a head that will grow bigger, but they will track below the normal growth curves for head circumference."
We'll be praying that even if he has a little head that he continues to grow and develop. No "diagnosis" can limit the power of God :D So far Mason has shown us that not only does he rarely ever conform to doctors' expectations, he is also a very happy, very smart little guy who knows how to problem solve very well and his congitive function continues to improve despite the small size of his head. We are going to see a craniofacial specialist next month to see if he may benefit still from a helmet for his positional plagiocephaly he got in the NICU from sleeping on his sides and back all the time.
GOOD NEWS...
The CT itself went great (Mason LOVED the laser light show during it!) and the results show that, to the neurosurgeon's surprise, he does NOT have craniosynostosis!! All of his sutures are still open :)
The "good" part of this news is that he is spared the brain surgery and does not have any evidence of elevated intracranial pressure, which we are VERY relieved to hear (he's had 8 seizures in the last 30 days or so, which is the first time in over 5 months he's gotten them so we were able to rule out high pressure being the problem - most likely it is a change in meds (going from generic Keppra to name brand and back since the end of Dec - in theory this shouldn't cause problems but in actuality and according to new studies just out last year, it does make a big difference - even generic to generic) so we are just going to stay the course and try not to change much on him in the future; it may also have a sinus infection component but we're treating that w/ Biaxin just in case); given his immune dysfunction and how easily he gets infections, the idea of cutting open his skull and putting his entire nervous system in jeopardy, not to mention subjecting him to more fentanyl/pain meds....made us wince to think about, so we are THRILLED he gets to avoid this surgery because of all the risk it carried.
NOT SO GOOD?
The other side of the coin in the situation is that, if he'd "only" had craniosynostosis, that was repairable and his head could continue to grow normally after the surgery to release the fused suture (his head circumference is so tiny as to not even be on the growth charts). Instead, he has a new diagnosis that is generally untreatable: microcephaly. We aren't sure if we'd rather have brain surgery or microcephaly based on what we have read. At Wikipedia the description says:
"Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life. The disorder may stem from a wide variety of conditions that cause abnormal growth of the brain, or from syndromes associated with chromosomal abnormalities (Mason has a chromosomal deletion). Two copies of a loss-of-function mutation in one of the microcephalin genes causes primary microcephaly.
"In general, life expectancy for individuals with microcephaly is reduced and the prognosis for normal brain function is poor. The prognosis varies depending on the presence of associated abnormalities."
Mason has many "associated anomalies" but none of Mason's other "issues" appear to be life-threatening other than his low immune system which is being treated as aggressively as possible with antibody infusions weekly. So ... we are going to hope and pray that he is one of the ones who is minimally affected ...
According to MedicineNet, "Depending on the severity of the accompanying syndrome, children with microcephaly may have:
- mental retardation,
- delayed motor functions and speech,
- facial distortions
- dwarfism or short stature,
- hyperactivity,
- seizures,
- difficulties with coordination and balance, and
- other brain or neurological abnormalities.
Some children with microcephaly will have normal intelligence and a head that will grow bigger, but they will track below the normal growth curves for head circumference."
We'll be praying that even if he has a little head that he continues to grow and develop. No "diagnosis" can limit the power of God :D So far Mason has shown us that not only does he rarely ever conform to doctors' expectations, he is also a very happy, very smart little guy who knows how to problem solve very well and his congitive function continues to improve despite the small size of his head. We are going to see a craniofacial specialist next month to see if he may benefit still from a helmet for his positional plagiocephaly he got in the NICU from sleeping on his sides and back all the time.
"...the whole body, supported and held together by its ligaments and sinews, grows as God causes it to grow." Col. 2:19b
Saturday, January 28, 2012
Sunday, January 22, 2012
Head, shoulders, knees and toes...
Well, after a day of appointments there are some highs and lows. Mostly highs...
*orthopedic says he has no concerns about Mason's leg length discrepancy (very minor)
*ENT cleaned out his ears and says no infection (which is great because Mason has had a hard time sleeping/laying down without waking up screaming frequently so because the tube was blocked we wanted to make sure it wasn't an ear infection)
*ENT also did a scope test and learned that his nasal passages are well open (earlier there was concern that one side may be narrowed) and that his vocal cords function beautifully :) Best of all he said there was no sign of velopharyngeal insufficiency (where the flap that closes off his nose is weak, allowing food into his nose when eating) - he had some nasal reflux during his swallow study and gets congested after eating so we had taken a break from oral trials for a while.
*A urine amino acid test showed nothing that would suggest trouble breaking down protein. We were also waiting on these results before more oral trials since thickening his feeds caused him more pain/retching/feeding intolerance. The test was abnormal in that several of his amino acids were too low or absent, but no one seems to know what that might indicate :/ We will discuss this with his GI dr. and dietician. As long as he does not continue getting congested following oral trials we can probably resume them.
The tough news was in neurosurgery. And it might not turn out to be tough news...just the possibility of it. They are concerned that Mason's head is misshapen from a condition called craniosynostosis, specifically scaphocephaly, I think (and/or possibly trigoncephaly?). He will get a CT of his skull on Feb 13 to see if any of the sutures in his skull have fused/hardened too early which could prevent his brain from growing, cause increased intracranial pressure, headaches, head banging, further developmental delay. We are praying this is not the case as this is no easy treatment (brain surgery...you will have to google all that as I don't have the heart to write about it).
Makes me sick to consider, especially wondering about the pressure problem (Mason often rubs his head when upset but we always thought it meant he was sleepy. Sigh. And as we mentioned earlier, he cries worst in the middle of the night after laying down several hours (when pressure problems are the worst). We are hoping this is teething instead (the crying at night that has gone on several months now, and when we increase his feeds - when he is growing, if his head can't grow but his body is, that could be the source of his pain). Please pray that it will not hurt anything to wait several more weeks on this scan and that we would have clear direction on whether to try to make it for sooner.
Micah actually had a ridge in the middle of his forehead as a toddler which we discussed with his pediatrician but were just told it was "genetic" and he'd grow into his head (looks okay now, we think?) We knew Mason's head was flat in spots from being flat on his back or sides so much in NICU and sleeping, but that doesn't require treatment beyond frequent positioning changes (they think he's too big for a helmet for that). His plagiocephaly may also be part of his torticollis...(he has episodes of wanting to only look to the left). Until this week I did not know that could be a cause.
Here are some pics of why the dr thinks he may have this problem...
Here is a pic of craniosynostosis (sagittal synostosis--where the head becomes very narrow due to early fusion of the sagittal suture of the skull).
Here is what Mason's head looks like from the top - hard to see from all the hair, but it's pretty narrow instead of round... :(
Here is a pic of metopic synostosis (trigoncephaly)
Here are some pics of Mason's forehead...
Needless to say, please pray!! (By the way, as to the title of this post...Mason has been playing that game with us and when we ask him to show us his toes and knees, he lifts them up! When we ask for him to show us his mouth, he makes noise with it! Too cute!)
*ENT cleaned out his ears and says no infection (which is great because Mason has had a hard time sleeping/laying down without waking up screaming frequently so because the tube was blocked we wanted to make sure it wasn't an ear infection)
*ENT also did a scope test and learned that his nasal passages are well open (earlier there was concern that one side may be narrowed) and that his vocal cords function beautifully :) Best of all he said there was no sign of velopharyngeal insufficiency (where the flap that closes off his nose is weak, allowing food into his nose when eating) - he had some nasal reflux during his swallow study and gets congested after eating so we had taken a break from oral trials for a while.
*A urine amino acid test showed nothing that would suggest trouble breaking down protein. We were also waiting on these results before more oral trials since thickening his feeds caused him more pain/retching/feeding intolerance. The test was abnormal in that several of his amino acids were too low or absent, but no one seems to know what that might indicate :/ We will discuss this with his GI dr. and dietician. As long as he does not continue getting congested following oral trials we can probably resume them.
The tough news was in neurosurgery. And it might not turn out to be tough news...just the possibility of it. They are concerned that Mason's head is misshapen from a condition called craniosynostosis, specifically scaphocephaly, I think (and/or possibly trigoncephaly?). He will get a CT of his skull on Feb 13 to see if any of the sutures in his skull have fused/hardened too early which could prevent his brain from growing, cause increased intracranial pressure, headaches, head banging, further developmental delay. We are praying this is not the case as this is no easy treatment (brain surgery...you will have to google all that as I don't have the heart to write about it).
Makes me sick to consider, especially wondering about the pressure problem (Mason often rubs his head when upset but we always thought it meant he was sleepy. Sigh. And as we mentioned earlier, he cries worst in the middle of the night after laying down several hours (when pressure problems are the worst). We are hoping this is teething instead (the crying at night that has gone on several months now, and when we increase his feeds - when he is growing, if his head can't grow but his body is, that could be the source of his pain). Please pray that it will not hurt anything to wait several more weeks on this scan and that we would have clear direction on whether to try to make it for sooner.
Micah actually had a ridge in the middle of his forehead as a toddler which we discussed with his pediatrician but were just told it was "genetic" and he'd grow into his head (looks okay now, we think?) We knew Mason's head was flat in spots from being flat on his back or sides so much in NICU and sleeping, but that doesn't require treatment beyond frequent positioning changes (they think he's too big for a helmet for that). His plagiocephaly may also be part of his torticollis...(he has episodes of wanting to only look to the left). Until this week I did not know that could be a cause.
Here are some pics of why the dr thinks he may have this problem...
Here is a pic of craniosynostosis (sagittal synostosis--where the head becomes very narrow due to early fusion of the sagittal suture of the skull).
Here is a pic of metopic synostosis (trigoncephaly)
 |
| " Infant with metopic synostosis as seen from above. Note that the forehead has a keel shape. Courtesy S. Schneider, MD" Source: http://www.yoursurgery.com/ProcedureDetails.cfm?BR=4&Proc=79 |
Here are some pics of Mason's forehead...
But you, LORD, are a shield around me, my glory, the One who lifts my head high.
Psalm 3:2-4
Psalm 3:2-4
Subscribe to:
Posts (Atom)
Mason's Mix
