Sarah was born January 1986. She was in the NICU for 10 days due to some minor
complications but was sent home as normal and healthy. She was very content,
rarely fussed, learned to smile and to us new parents she was delightful. We
weren't sure what babies were supposed to do anyway. She had difficulty eating
however and was not gaining weight. She was tested for a few things, tried new
formula, but nothing seemed to work. Finally at 5 months old when she still
wasn't holding her head up we said something is not right. Sarah also had
doughy skin and very big indentations where her muscles were. Of course she
also had the very strange pads of fat on her upper buttocks. They sent her to
the university of Michigan where she underwent a battery of tests and was sent
home as having a thyroid problem not detected at birth due to it originating in
the hypothalamus. We were sure that synthroid was the answer. Again not the
case. At around 1 year of age Sarah became very bloated and lethargic.
Diagnosis - liver cirrohsis. The doctor said she would not live long. Sarah's
nutrition was very poor. Whenever she had an ear infection or cold it did her
in. She couldn't keep food down etc. We started tube feeding her with an ng
tube that we dropped down her nose 3 times a day and fed her pediasure. We
never left the tube in but slid it in and out every time. Sarah was very adept
at swallowing it right down and never fussed or complained about it. We tube
fed her this way for 9 years! Eventually we weaned her down to two times and
then one time a day. We just discontinued in September. Sarah has no problems
physically eating and never has. She just never had a desire. She basically
learned to eat when she went to preschool and saw other kids doing it. For her
it was a social thing. She is doing o.k. but just lost a half a pound over 7
months so now we are feeding her a milkshake every night and trying to load the
calories!
Sarah is also diagnosed as extremely nearsighted and has retinitis
pigmentosa. She had strabismus surgery (straightening her cross eyes) when she
was three. She has worn glasses since about the age of three also.
Throughout the first seven years of Sarah's life we would periodically go
through bouts of diagnostic testing. Everytime Sarah presented a new symptom or
someone would think they had the answer we'd do more testing. We moved to
Minnesota and started going to Mayo Clinic - again no answers. That is until
December of 92 when Sarah had a major episode. She had a stroke like episode
and major seizures. Now Sarah had had three seizures between 1986 and 1992 -
each one when she spiked a high temp due to an infection. The seizures were
strange because they were usually status seizure requiring valium or the like to
stop. Then we would go a year or two with any. In Dec of 92 Sarah lost all
speech, and all movement on her right side. She also would have status seizures
sometimes lasting as long as 20 minutes until the intervenous valium would slow
it down. She was hospitalized during this month and that is when someone came
up with the CDG diagnosis. She was tested and it was confirmed. (Type I is
suspected) Since the diagnosis we have found very little out. The only other
two families I was aware of were in Wisconsin and Illinois. This month, I just
learned that Mayo treats about 5-6 other children with CDG.
Sarah has been involved with special education since she was about 6 months old.
She is currently in the third grade. She is very social and has many friends.
She is also very strong willed and stubborn. She prefers to be as independent
and "normal" as possible. She is not yet completely toilet trained. She is
trip trained - she will go if you take her but she has never indicated when she
needs to go - so if you don't take her..... Her speech has really improved.
She is still is slightly difficult for a stranger to understand but she is
talking in sentences and loves to talk! She eats for the most part
independently (messy but independent). She receives speech, OT, and PT at
school but we also take her to OT 2x a month and PT once a week at the local
children's therapy center. She has a hot pink wheelchair which she can self
propel for short distances - around school etc. She sits in the bath tub
without assistance now (wasn't always the case). Around the house she crawls.
She can do the stairs if she concentrates and uses the handrail. She loves to
look at books, color, play any game, and watch videos. She loves to laugh and
loves her dog. She rides horses once a week in the summer through Miracles in
Motion.
She also loves her brother and sister and of course yells and screams at them
too! Sarah is the oldest, Megan is 7 and Mickey is 4. When we were going
through all the diagnostic stuff with Sarah and they had no idea what it was,
we and an occasional doctor would say it was a genetic fluke - a bolt of
lightening. So we had Megan and Mickey. They are both wonderfully healthy
children. I was nervous when I was pregnant with both. What if? So what? We
knew if we had another child with problems that we would handle it at least we
thought we could.. But we certainly would not have wanted that for an outcome.
I am very thankful everyday for all of them because if I knew then what I know
now about CDG I'm not sure what decision I would make about having additional
children. It would be extremely difficult. I feel deeply for those faced with
that decision.
Well, I've sort of rambled on. I hope this gives you some idea of who Sarah
is. She is delightful. Maybe you'll meet her someday! You'd enjoy it.
eff: 1997