Delayed myelination, detailed story, extremely long

[Guest guest]

Hi Ivana! I can tell from your writing that you are an incredible mom who is

determined to help her daughter succeed. How old is your daughter now? My

daughter who is now 6 and who had delayed myelination (is all in now after

proefa) has many similarities with your daughter. In fact, my daughter still

likes

to hear the bang when she throws objects for the auditory imput. I just

wanted to say that your daughter sounds like she is progressing nicely and I

congratulate you on thinking about giving her supplements so early on.

Carolyn

[Guest guest]

Hello,

I promised to write a longer, more detailed story about my daughter

Valentina. It took me more time than I expected to write all this.

I want to thank you all from this list for the information and

encouragement that I found here. You are GREAT.

The story is below. I will try to post her photo.

Lots of hugs,

Ivana, mom to Valentina

-----------------------------

VALENTINA'S STORY

In first months of pregnancy I had a lot of morning sickness that

lasted more than just in the morning. Everyone, including my doctor,

told me that it is normal thing. Slowly sickness began to decrease.

Other than that it was a pretty good pregnancy. I worked all the way

until the labor. I am a teaching assistant at the Belgrade

University, so the work was not very hard.

I have been in 33rd week pregnant when my water broke. I didn't have

any pain at all at that time. First slight pain occurred two hours

later, and in two more hours my baby girl was born. She had 1900 g,

43 cm tall, head circumference 30 cm, and Apgar score 8. She was put

in an intensive care unit right away. She had some tubes in her nose

to help her breathe for about 4-5 days (I don't remember very well);

she was blue around her eyes because of a difficult labor (I was

told so), and becoming more puffy (her kidneys were not functioning

well). She began to look better and better and when 7th day her skin

became gray and her condition was rapidly deteriorating. The blood

and liquor culture were positive, they found staphylococcus

epidermidis. As a result she had bronchopneumonia, meningitis and

ventriculomegaly (enlargement of brain ventricles). She was under

oxygen for 25 days and after that I began to breastfeed her,

although she often slept on feeding time. When she was awake she had

difficulty to hold a breast, more than 3-4 times. We went home from

the hospital after 44 days.

At that time she had 2300g, 46 cm tall and head circumference still

30 cm.

Final diagnosis stated in a discharge paper was: N. praetemporarius

33GN, RDS, Asphyxio neon non spec. Infectio intrauterina cum

meningitis acc sanata, Ventriculomegalia, Bronchopneumonia bill

sanata, Anemia neon sec et Transff. Sangv. NoII, Caput succedanum et

Haematoma periorbitalis.

After coming home, the visits to a range of doctors began.

Neonatologist:

was the first that diagnosed Microcephaly. We made ultrasound of

head and stomach (besides still slightly larger ventricles, there

was not other malformations present), roentgen of head (small but no

calcification present), Kariotype (spell?) (46XX-normal)

Neurologist:

Dr N. Cerovac is a consultant at birth hospital, and she examined

Valentina from the beginning. We see her every few months.

She sent us to neurosurgeon, neuro-ophtalmologist, physiatrist.

Somewhere around 18 months old I found out about some amino-acids

medicine (Uteplex 2mg/2ml) used originally for back pain, but

helping some children with motor problems. I asked her for opinion,

and she said we could try. That is a French medicine (thankfully I

have some relatives living in Paris) and she started taking one

ampoule every third day. That is drinkable solution of Uridine acid

5' triphosphore (UTP). She was taking it 2 months, than took a

break

of 1 month and than drank the rest of total 45 ampoules. The last

one was on January 1st 2004. She again took a break for 1 month and

started ProEFA on February 4th 2004. She finished the bottle with 90

capsules, and is on a break again. We are suppose to see the

neurologist by the end of May, and than decide what to do next. I am

hoping to continue with ProEFA.

We made four EEGs so far, 40 days, 10months, 15 months, 2 years,

and all were OK. We shall continue to check it just in case.

Neuro-ophthalmologist:

She has slightly less pigmented retina in her right eye, but it is

inside normal values. She also has convergent strabismus (eyes

turning in), treated with patches from 14 months. Her right eye is

weaker, crosses more. Her sight is good, she doesn't have to wear

glasses, and is equal in both eyes.

Funny thing: she has a book with a picture of a ball that is exactly

like one she has. When she wears a patch, she tries to pick a ball

from a book.

Neurosurgeon:

She first visited neurosurgeon when she was 3 months old, she

suggested an MRI at 3.5 months, and another at 12 months. She no

longer sees neurosurgeon after second MRI, just developmental

neurologist.

Another MRI was supposed to be done at age 2 years, but we agreed to

wait some time.

1st MRI Moderate cortical and subcortical brain atrophy, slightly

delayed myelinisation. Lateral ventricles and third ventricle

discretely enlarged.

2nd MRI Myelinisation delayed. Signs of old brain damage of white

matter, mostly beside trigonums (spell?) and back parts of lateral

ventricles. Corpus callosum fully formed but hypotrophical.

Ventricles are discretely enlarged

Physiatrist:

She started physical therapy the first day when we left the birth

hospital (1.5 months) as being a baby of high risk. Three times a

week until she was 6 months old, than she started occupational

therapy too. Suspecting Cerebral Palsy, Dr ordered TORCH

(Toxoplasmosis, Rubella, Cytomegalovirus, Herpes simplex) analyses

and they came back negative. Cerebral Palsy has been mentioned when

she was about 1 year old, but not any more.

She had really bad hypertonia all over her body (I had difficulties

rising her arms to dress her), still has mild hypertonia in her legs

particularly. Her feet are in mild (it looks awful to me, but dr

says it is minimal) valgus position when she stands, which I have

been told is normal for hypertonia, and will become better with

exercises. She also has a discrete tremor, which is worse when she

wakes up from afternoon nap.

Now she is still having three times a week physical therapy and two

times a week occupational therapy. Besides that at home we practice

everything from both therapies whenever possible.

We go to a speech specialist just for advice (no regular therapy)

because they think she is still not enough cognitively developed to

be able to follow the instructions. I have a list of, mostly

passive, mouth exercises that I practice at home. I am thinking of

taking her to private speech specialist with in a month or two.

Motor development:

-She was holding her head from 4 months

-She started to roll over at 9 months (but not using it herself,

without stimulating her, until 14 months),

-Sits by herself (when put in sitting position) by 11 months,

-Pulls herself to 4 legs position at 10 months and swinging in that

position at 11 months,

-Changes position from sitting to 4 legs and back to sitting at 12.5

months

-Pulls herself to sitting position at 13.5 months, first in kneeling

and after that (14.5 months) in a proper sitting position

-Starting to crawl (makes two steps, than sits, again two steps) at

15.5 months

-Crawls at 16 months

-Makes step from crawl position with right leg (not with left yet)

at 16 months

-Pulls herself to standing position with some help at 17.5 months

-Pulls herself to standing position by herself from 20 months

-Can stand unsupported for very short periods (few seconds) from 23

months

-Can stand unsupported for 30 seconds (looses balance falling to the

back) from 25 months

-Can cruise on furniture from 25 months

-Caw " walk " on her knees from 25 months, very funny

-Tries to make steps unsupported (unstable but on her own) from 26

months

-Can walk when someone holds her to both hands, or when she pushes

her stroller with one hand and someone holds her to another

-Starting to chew (not everything and not all the time) from 24

months (mostly bread with some coating, banana, soft biscuits) but

only if she bites, not when feed from a spoon.

-Can climb on a 40cm high bed, but when she wants to get down, she

goes with her head first, not her legs.

Cognitive development:

-Throws everything away, and laughs when it bangs on the floor, is

angry when doesn¡¦t bang (something soft or when she throws on a

carpet)

-Can hold a toy in her hand while crawling, goes off the carpet and

throws it so it would bang

-Can hold a toy in one hand while pulls herself to stand and then

throws the toy

-Crawls really fast, and going everywhere

-When she throws something under the furniture, she puts her head

down and tries to reach the object, and she succeeds most of the

time. If she cannot, she looks at someone, and pulls him/her to help

her get it.

-She can crawl under the small table, watching not to bang her head.

-Can show her head, leg, stomach, someone else's nose, ears, mouth,

hair.

-Turns when someone asks " where is " daddy, mommy, grandma, grandpa,

TV (she really loves TV, always has),

-recognizes different toys, loves balls and can pick the one that

makes noise when someone asks,

-can find a particular book (from a pile of similar books),

-likes to watch particular shows on TV (some cartoons - not all,

commercials on one particular TV station),

-can take off grandmas glasses, and then tries to put them back when

asked

-Can wave bye-bye (she learned that in just two-three days, and we

have been practiced that for months before proefa),

-can make moves with her hands as if she washes them when someone

asks

-Loves to dance with music, especially when someone sings (mom or

grandma),

-can turn pages in a baby book (thick pages)

-Points with finger to things in a book

-loves to listen mom telling stories, and reading from a book, as

long as there is not much text on one page, and turns pages on her

own

-Is afraid of a loud group of people, and most musical toys.

-She was afraid of sounds like vacuum cleaner, hair dryer, but she

resolved it

-She doesn't like me to wash her teeth, or her hair. She doesn't

cry, but protests

-She loves to go out, by car or in her stroller, and never falls

asleep during ride. Watches everything she passes, and she wasn't

doing that last summer (just trees or something really big). She

loves pigeons, and laughs when they fly away.

-Can take off her socks.

-Participates in dressing, lifts her arms to take off her t-shirt

-She is not even close to being toilet trained.

-She doesn't want to eat anything from her own hand, she will just

pick little pieces and put it in someone else¡¦s mouth. She puts

her

hands in her mouth, and can take a tooth brush out of her mouth.

-drinks from an ordinary cup

-prefers salted than sweet meals, is not picky eater

-Wants to take spoon, but only to throw it, not to eat with it.

-She is trying to participate in a conversation (sort of) when I

talk to her she responds with voice

-Babbles very much with voices a, e, i, b, m, t, g, v and lot of

combinations

-Moves her tongue left-right inside her mouth, making sound like l-l-

l

-She is trying to lick her upper lip with her tongue

-She imitates some voices, sometimes makes her mouth as if she would

say it, but nothing comes out.

-She speaks 2-3 words: mama (meaning mommy), tata (daddy), baba

(grandma).

-We are practicing some others: give (should be " dai " but she

says " daaaa " ), come on ( " aide " , and she says " aaai " or " aeee " ). She

does not say them spontaneously, but repeats after me.

Health issues

As being a premature baby, she had low hemoglobin, and started with

milk-formula with iron, around 3.5 months (few days before her first

MRI-just coincidence). She soon started to have a bad eczema on her

legs, and cheeks (I thought it was from total anesthesia for MRI).

The pediatrician gave me some cream (with fish oil!!) and it helped

for her legs, but not her cheeks. We couldn't find what caused

the eczema. When her hemoglobin was higher, we switched back to

ordinary formula at about 9 months. Within a month her skin cleared

completely, so it was obvious it was allergic reaction to iron.

She had one really bad ear infection somewhere about 3 months old,

but it was treated well, she never had another. I run to her

pediatrician (she was a friend to my father, who was also a

pediatrician, died 20 years ago) every time anything is other than

usual, just to prevent it to happen again.

She used to have running nose quite often last winter (maybe once a

month), but this winter (taking proefa from February) only once.

We made a blood laboratory (maybe someone remembers my question

then), some transaminase was high (liver function), but after

further testing, it was just a virus that her body was fighting

with, and her liver had to " work overtime " . That was that one

time she had running nose this winter.

Other than that, she is really a healthy child.

Daily routine

As a baby, she really slept badly. She would wake up with the

slightest noise. During the day, naps were maximum 15 minutes. She

was fed at night up to 6 months. She continued to wake up 1-2 times

a night not wanting to eat or drink until she was 16 months. I

recently read on some CP list that a child would wake up just to be

repositioned. I now know that was the cause. She was not able to

roll in sleep by that time. After that her sleep was much better.

She had two 1 hour naps, now she has one 1.5-2 hours nap after lunch.

She usually wakes up around 8 AM and is asleep for the night around

9:30-10PM.