Re: A new member with a long story that I'll make short!

[Guest guest]

Hello Tara,

 

Our son is also diagnosed with VCFS and PMG.  Like you, we too are

always wondering what is causing his problems, what should we concentrate on the

VCFS diagnosis or PMG.  I wish there was a simple answer but there's not.  I

agree with you that it's definitely both factors.  We have met some families

with children diagnosed with VCFS and there is such a broad spectrum of cases. 

Many of them tell us yes, your son will walk, talk, go to school, and do many

things a " normal " child will do, because that is what there child is doing. 

BUT there child does not have the PMG. 

 

turned 2 years old in January.  He is able to sit for a few minutes by

himself and takes a few steps in a gait walker.  He does wear leg braces when

up walking.  He has low tone but also hyper extends also.  He was able to

drink from a bottle but no where near what he should've been taking in.  Eating

food is difficult for him, he just can't get the whole chew/swallow

coordination.  After much consideration finally got a G tube about 3

weeks ago.  He is busy with PT, OT, and speech.

 

Hang in there Tara, I know how your feeling!  It doesn't seem like anyone can

give us the answers we are looking for.  Only to have a magic crystal ball that

we could look into and see for ourselves!  As a parent we want everything for

our child but we have to take it day by day, because there's no other way.  Our

children will determine who they are and what they will be capable of and we

will stand beside them doing everything possible for them!

 

Thanks for sharing your story,

Subject: A new member with a long story that I'll make short!

To: polymicrogyria

Date: Thursday, February 23, 2012, 2:23 PM

 

Good Afternoon!

My name is Tara and our daughter was born Sept 5, 2010, 10 weeks premature.

Everything was going fine and she was doing extremely well. She was breathing on

her own, tolerating feeds, she was a superstar. Then, when she was three days

old she coded. Rare cardiac defects were discovered. She had a completely

interrupted aortic arch, an atrial septal defect, a very large ventricular

septal defect, a PDA, and a bicuspid aortic valve. It was also discovered on day

three (for some reason, not right away on her first X-ray what the heck?!), that

she did not have a thymus gland and that she was hypocalcemic. It was a really

hard day. We were given all of the information, overheard the geneticist

diagnose her with 22q.11.2 deletion syndrome, and learn that she needed open

heart surgery in a day or two in a different province.

Then it got crazy. The surgeon couldn't do surgery because she was too small.

She lived in NICU for two months on a ventilator with congestive heart failure,

lung infections and septicaemia with low sats. She had her first open heart

surgery when she was two months old and weighed 4.5 pounds. She was on bypass

for 140 minutes and circulatory arrest for 55 minutes. Her heart tissues were so

damaged that when the surgeon touched them she bled. She got over 30 adult sized

blood transfusions. The surgeon said the surgery was spooky, but mostly

successful, we would have to go in again when she was older. 6 months after her

first heart surgery she had a cardiac cath done, but it was unsuccessful, so we

prepared for another open heart surgery. In the meantime she also had a bunch of

scopes and a bronchoscopy.

I could probably write a novel, but I'll spare you the details. She was 100%

tube fed until she was just over a year. She was told she would never eat or

drink orally because of her lack of tone and airway issues. She also has an

occult sub mucous cleft palate.

At age 18 months (15.5 corrected) she can sit, but not get in or out of sitting.

She can stand assisted, and walk assisted, but cannot walk along furniture or

stand on her own. She feeds herself finger foods, and just held her drinking cup

for the first time on her own last week. She doesn't talk. She says mama mama,

and babbles da, but not to " ask " for daddy. However, when she says mama mama she

is asking for me. She says " all da " for all done, and gestures for the things

she wants with her left hand. She also waves Hi and Bye.

Up until two weeks ago, as far as we knew all of her problems were diagnosed. We

had an MRI. We were surprised to learn that she has unilateral polymicrogyria.

She also has volume loss of the left sided cerebral white matter and thickened

cortical grey matter. They saw

scattered T2 hyperintensities, scoliosis, butterfly vertebrae, associated

decrease in the volume of the left cerebral penduncle and left midbrain,

prominence of the left lateral ventricles and Cavum septum pellucidum. There

were also a bunch of other giant words and phrases that I don't understand.

It was a huge holy crap moment for us. We assumed that all of her developmental

delay were caused by the 6 months of hospitalization, VCFS, and prematurity,

combined with the trauma of open heart surgeries. We were having the MRI to

diagnose a suspected stroke, or some form of cerebral palsy.

Now, I'm confused. I guess it doesn't really matter where her delays are coming

from, but we assumed it was the VCFS (the genetic stuff). VCFS is known to cause

developmental delay, speech, and learning disabilities. Are her issues coming

from the VCFS? the PMG? Both? (probably both)

The whole left side of the brain is PMG, but the most abnormalities fall in her

expressive language, gross motor, and sensory areas of the brain.

I know no one can look into the future, but I'm scared, and want to hear stories

of your children that lead relatively " normal " lives (what is normal anyway?!).

Thank you so much for allowing me to join your group, I hope to learn a lot.

Tara

[Guest guest]

Hey guys,

Message me my son has both also and he is 6 now

Amy Gatrost

To: polymicrogyria

Sent: Saturday, March 3, 2012 6:36 PM

Subject: Re: A new member with a long story that I'll make

short!

 

Hello Tara,

 

Our son is also diagnosed with VCFS and PMG.  Like you, we too are

always wondering what is causing his problems, what should we concentrate on the

VCFS diagnosis or PMG.  I wish there was a simple answer but there's not.  I

agree with you that it's definitely both factors.  We have met some families

with children diagnosed with VCFS and there is such a broad spectrum of cases. 

Many of them tell us yes, your son will walk, talk, go to school, and do many

things a " normal " child will do, because that is what there child is doing. 

BUT there child does not have the PMG. 

 

turned 2 years old in January.  He is able to sit for a few minutes by

himself and takes a few steps in a gait walker.  He does wear leg braces when

up walking.  He has low tone but also hyper extends also.  He was able to

drink from a bottle but no where near what he should've been taking in.  Eating

food is difficult for him, he just can't get the whole chew/swallow

coordination.  After much consideration finally got a G tube about 3

weeks ago.  He is busy with PT, OT, and speech.

 

Hang in there Tara, I know how your feeling!  It doesn't seem like anyone can

give us the answers we are looking for.  Only to have a magic crystal ball that

we could look into and see for ourselves!  As a parent we want everything for

our child but we have to take it day by day, because there's no other way.  Our

children will determine who they are and what they will be capable of and we

will stand beside them doing everything possible for them!

 

Thanks for sharing your story,

Subject: A new member with a long story that I'll make short!

To: polymicrogyria

Date: Thursday, February 23, 2012, 2:23 PM

 

Good Afternoon!

My name is Tara and our daughter was born Sept 5, 2010, 10 weeks premature.

Everything was going fine and she was doing extremely well. She was breathing on

her own, tolerating feeds, she was a superstar. Then, when she was three days

old she coded. Rare cardiac defects were discovered. She had a completely

interrupted aortic arch, an atrial septal defect, a very large ventricular

septal defect, a PDA, and a bicuspid aortic valve. It was also discovered on day

three (for some reason, not right away on her first X-ray what the heck?!), that

she did not have a thymus gland and that she was hypocalcemic. It was a really

hard day. We were given all of the information, overheard the geneticist

diagnose her with 22q.11.2 deletion syndrome, and learn that she needed open

heart surgery in a day or two in a different province.

Then it got crazy. The surgeon couldn't do surgery because she was too small.

She lived in NICU for two months on a ventilator with congestive heart failure,

lung infections and septicaemia with low sats. She had her first open heart

surgery when she was two months old and weighed 4.5 pounds. She was on bypass

for 140 minutes and circulatory arrest for 55 minutes. Her heart tissues were so

damaged that when the surgeon touched them she bled. She got over 30 adult sized

blood transfusions. The surgeon said the surgery was spooky, but mostly

successful, we would have to go in again when she was older. 6 months after her

first heart surgery she had a cardiac cath done, but it was unsuccessful, so we

prepared for another open heart surgery. In the meantime she also had a bunch of

scopes and a bronchoscopy.

I could probably write a novel, but I'll spare you the details. She was 100%

tube fed until she was just over a year. She was told she would never eat or

drink orally because of her lack of tone and airway issues. She also has an

occult sub mucous cleft palate.

At age 18 months (15.5 corrected) she can sit, but not get in or out of sitting.

She can stand assisted, and walk assisted, but cannot walk along furniture or

stand on her own. She feeds herself finger foods, and just held her drinking cup

for the first time on her own last week. She doesn't talk. She says mama mama,

and babbles da, but not to " ask " for daddy. However, when she says mama mama she

is asking for me. She says " all da " for all done, and gestures for the things

she wants with her left hand. She also waves Hi and Bye.

Up until two weeks ago, as far as we knew all of her problems were diagnosed. We

had an MRI. We were surprised to learn that she has unilateral polymicrogyria.

She also has volume loss of the left sided cerebral white matter and thickened

cortical grey matter. They saw

scattered T2 hyperintensities, scoliosis, butterfly vertebrae, associated

decrease in the volume of the left cerebral penduncle and left midbrain,

prominence of the left lateral ventricles and Cavum septum pellucidum. There

were also a bunch of other giant words and phrases that I don't understand.

It was a huge holy crap moment for us. We assumed that all of her developmental

delay were caused by the 6 months of hospitalization, VCFS, and prematurity,

combined with the trauma of open heart surgeries. We were having the MRI to

diagnose a suspected stroke, or some form of cerebral palsy.

Now, I'm confused. I guess it doesn't really matter where her delays are coming

from, but we assumed it was the VCFS (the genetic stuff). VCFS is known to cause

developmental delay, speech, and learning disabilities. Are her issues coming

from the VCFS? the PMG? Both? (probably both)

The whole left side of the brain is PMG, but the most abnormalities fall in her

expressive language, gross motor, and sensory areas of the brain.

I know no one can look into the future, but I'm scared, and want to hear stories

of your children that lead relatively " normal " lives (what is normal anyway?!).

Thank you so much for allowing me to join your group, I hope to learn a lot.

Tara