Welcome and her son Toby!

[Guest guest]

Hi everyone! We have a new family joining us tonight! Here is what they had to

say..

Hello, my name is .  my son Toby has not been diagnosed at this stage,

with mds, or any other disorder, mainly due to the arrogance and disinterest of

doctors. he was referred to a pedi and metabolic specialist from 3 months of

age due to rapidly growing skull and other issues (which although lengthy, i

have included the rest of his history with this brief, sorry!!). He was seen

regularly and tested for glutaric aciduria type 1 and mito, both these tests

were negative/inconclusive.   I am currently waiting for an appt with

metabolic specialist, to do repeat mri and blood tests/chromosomal testing.  I

work in child care, have other children and have come across many variations and

severities of many disorders but have never come across a child like my son. 

Some people tell me i am " fishing' for a diagnosis, but no matter how minor or

major his condition turns out to be, if he is entitled to any help or assistance

with the areas of development

he lacks in, then i want to know!! He knows he is different to other children,

now that he is enterring his second year of school. He is my wonderful little

man and until i have a confirmed diagnosis i would like to learn as much info as

possible on mds as well as conditions with similar symptoms and developmental

issues.Toby's background:Toby, will be 6 in March.Normal  pregnancy.  Came

into contact with slapped cheek/parvovirus at 14 weeks gestation.  Born at

38/39 weeks by caesarean. Apgar score of 9/10. 4.1kg. 55.5 cm length. 37.5

head circumference.First referred to pediatrition at age 10 weeks due to rapidly

growing skull. He was first seen at age 17 weeks, and regularly as head

continued to grow quickly until about 12 months when it slowed. Head distorted

compared to body.  Head growth almost nil from ages 2 to 4. Head also grew

upwards from age 18months-4 years. Eye sockets sunken in during head growth

periods/and regular head shape

changes. Helmet considered but pedi decided against in hope of head correcting

itself by age 2 ½ years.Large/late closing sutures in skull, at one point more

than adult index finger width. Large/late closing fontanelles, esp at back of

head.Brachycephaly, not due to placement during sleep as he was a side sleeper

due to sleep apnea.  Had flat head on left side for couple months but

corrected without problem.Age 7 months, referred to Dr. Jim McGill, metabolic

specialist, for suspected metabolic disorder.  MRI showed increased lactates

on brain, but otherwise inconclusive, as were blood tests. Not sure what was

actually tested for.  Sees Dr. McGill yearly/bi yearly for review. At last

appointment at age 4, it was noted that no investigative work done since 10

months of age.  Repeat MRI recommended when Toby turns 6 years old and will

not require anaesthetic.  Previous requests for chromosomal testing

denied.Large protruding tongue from birth-

3 years. Poor suck/swallow, reflux, would not take to lumpy foods until 10/11

months as would gag badly.  Strong gag reflex with different texture

foods/meat  until about 5 years.Regular ear infections birth to age 3.

Regular throat infections. Very large tonsils/adenoids/sleep apnea birth- 3

years. Did not sleep thru night until few months after tonsils/adenoids

removed  age 3.Unsettled/crying/headaches birth-4 yearsHypotonia birth-present

.. now affecting  performance at schoolHyperflexible joints birth-presentShort

wide neckSmall broad hands with stubby fingersSingle palmar creaseSpecialist

questioned nipple structure age 3-4 yearsMicro-penis. Circumcised age 4 after 2x

attempts to treat severe phimosis with steroid cream unsuccessful. Left testes

often disappears for few weeks/months at a timeHold up head for extended period

while on tummy, 9 monthsSat unaided 11 monthsWalk 15 monthsRun at age 2Hop at

age 3years11monthsPedal trike age 4

½ yearsAt age 2 ½  saw physio/speech/cognitive specialists for assessment.

Within range but suffered many difficulties in all areas.Regular complaints of

stomach ache 2 years-present. Still occasional trouble holding in number two’s

(occasional accidents)Dark, purple circles under eyes on a quite regular

basisDelayed fine motor development, fine motor still behind

expectedDelayed  emotional/cognitive.  Still has trouble following two

consectutive instructionsCould draw simple people, flowers and name at age 4

yearsHighly emotional, reacts badly (usually crying, sometimes anger) if

rejectedCompared with school report for term one of prep, the report for term 2

shows continuation or worsening of most areas. Difficulties  in areas of

social, emotional, physical and acedemicHas difficulty conveying or re-telling

storiesPoor understanding of time sequence

Welcome ! Know that you are not alone in getting a late diagnoses of

mDs. We have had several families here that has gotten late diagnoses. If

your looking at getting a genetic test done on him make sure when they do the

blood draw that they look at least 200 cells if not MORE. Feel free to ask any

questions that you may have, this is a very informative group. I hope that you

start getting the answers you need!

Hellard

IMDSA President

brandy@...

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

International Mosaic Down Syndrome Association

PH:

Toll Free: 1-888-MDS-LINK

http://www.imdsa.org

Hellard

IMDSA President

brandy@...

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

International Mosaic Down Syndrome Association

PH:

Toll Free: 1-888-MDS-LINK

http://www.imdsa.org