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

[Guest guest]

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]

Hi Tara

Wow your little girl has been through so much, I am so sorry to hear of your

hard journey. My girl was born on the 9 Sep 2010 and also has PMG.

I do not know alot about the heart condition and associated problems that come

with it but can tell you that the delay could definetly be fromt he PMG. My girl

does not speak, although she does grunt and gesture to communicate with me, she

does not sit unassisted, or walk or stand at all.. She only just got head

control at the age of 1yr.

Each child writes their own story and that your girl is verbalizing and sitting

and standing (assisted) is def a milestone to celebrate.

This support group is a great place and you will learn lots of information,

there is also a facebook group aswell to share stories and photos, the parents

on here are wonderful and we are all here to support each other.

It must be hard for you and your family going through so much with you little

girl, but she sounds very strong.

Regards

Kat

________________________________

To: polymicrogyria

Sent: Friday, 24 February 2012 9:23 AM

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

 

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