My daughter was born 10 days over due.
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Ashley at 3 years old
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She had an apgar of 7
and 8 and weighed 8 lbs. 6 oz. She was born by c-section, and had
inhaled meconium, but we went home breast feeding after 4 days in
the hospital. Everything seemed normal until her 2nd DPT shot at
4 mos of age. She experienced 15 minutes of startle spasms 9
hours after the shot. Two days later she started having Infantile
Spasms. We were in shock. Our pediatrician filed a vaccine
adverse event report. How things can change in such a short time.
We have been through: ACTH injections, spinal taps, 2-MRI's,
3-PET scans, chromosone testing, amino acid testing, numerous
hospital stays, video EEG monitoring, numerous other EEG's.
Nothing had ever been found or proven to have caused the
Infantile Spasms during her first 22 months of life. She has been
on four drugs at one time, Vigabatrin, Tegretol, Depakote, and
Phenobarb. We were on Neurontin for four days, also. Her seizures
still remained uncontrolled. Whenever they would start up she
would have about 10 a day. They consisted of 1 to 2 minutes and
she would stop breathing get dusky and her lips turned blue, with
just a slight stiffening of her body. Since losing control of her
seizures in October, 1994 we would regain control after
increasing a drug for about 7 days then they would return. Each
time they came back over a period of time the seizures would get
closer together. They would get as close as a 1/2 hour apart.
When they got to be an hour or less apart I would have to give
her Valium. I think at times I needed it more than her.
I had watched the dateline program, regarding the Ketogenic
diet, in the fall of 1994 and I had even read about the diet
several months earlier in Dr. Freeman's book, "Seizures and
Epilepsy in Childhood: A Guide for Parents", but at that
time I had never thought it would work for her. The very next day
after seeing the program I called John Hopkins and got the
address for the Charlie Foundation. That video gave me renewed
hope in controlling Ashleys seizures. However, my neurologist in
Rockford Ill. told me that he did not believe it would help in
Ashley's case since she was having partial complex seizures with
apnea. We decided it was time to change neurologists when he
wanted to add Dilantin to her already too long of a list of
anti-convulsants!!! We went to see Dr. Peter Huttenlocher at the
Univ. of Chicago.
Dr. Huttenlocher recommended the diet and we were admitted
1/26/95 for our 4 day stay. After the first 4 days at home on the
diet her seizures came back. However she was only having 1 a day.
She had symptons of colic on and off but she had seemed happier
and more alert. We tapered her off the Depakote. I had problems
getting her to eat and drink the first 2 months. After reporting
a brownish stain in her diaper to both her pediatrician and
neurologist, I was told not to worry. Later, I was told by the
urologist that that was the beginning of her kidney stones. They
were crystalizing in her urine.
When putting her on the diet they started her out on 950
calories. This was way too high for a 13 mos. old baby. I was
later told, after joining the Keto Klub in Indiana that she
should have been started on 700 calories. A most common mistake
made by hospitals not familiar with the John Hopkins protocol.
In March of 1995 the happy baby I had for a short while was
gone. The smiles were rare and hard to come by. She developed
reflux and I had to give her two drugs to help her tummy and
digestive system cope with all the fat. We finally lowered her
calories in April and she went 3 weeks without any seizures. That
was the only time we were able to control them for that long of a
period while on the diet. We took her off Vigabatrin in June. We
were down to 2 drugs, I had such hope. In July, she started
vomitting. We were hospitalized for 4 days with a bowel
impaction. We were home 5 days when she started vomitting again,
back to the hospital we went. She ended up being transferred via
helicopter to the University of Chicago where her neurologist is
located and the diet had been started. She ended up having a
blood infection, kidney infection, and passed 3 kidney stones.
They also found her left kidney to have a small reflux which they
said is common. We went back in September of 1996 and it had
corrected itself. The stones were uric acid, which were caused by
the Ketogenic diet. We ended up in the hospital for 3 weeks and
she was taken off the diet.
When she came off the diet she was only on 2 drugs: 60 mg of
Phenobarb. and 400 mg of Tegretol. After going off she was put on
100 mg of Lamictal and remained on 400 mg of Tegretol, and 60 mg
of Phenobarb. We were still having to deal with seizures every 7
to 10 days. Until December of 1995, her seizures diminished and
and I have not had to give her Valium for almost a year now.
Currently she has gone 5 months only having 2 very mild seizures
just before Thanksgiving. I am hoping that this cycle continue.
Because we were not sure what story the DPT shot had to play
in Ashley's seizures and because they started within hours of the
shot we had legal right to pursue it. We contacted an attorney in
Idaho in the fall of 1994. The governement responded by
requesting that we go for further genetic testing at the
Children's Hospital in Milwaukee. It was there that Dr. Lubinsky
decided to test her for CDGS as a long shot. She had never had
any health problems other than those caused by the diet. She also
did not display any of the clinical features of CDGS. However,
since birth I had noticed dimples on her upper right thigh and a
couple on her buttock. We found out the results of his test in
October of 1995, she was positive for Carbohydrate Deficient
Glycoprotein Syndrome. I had so many mixed emotions when I found
out she had finally been diagnosed. Disbelief, grief,
finality.......
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Happy Halloween for Ashley
5 Years Old
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Through a genetic doctor we saw when Ashley was first admitted
with seizures at 4 mos of age, we obtained the name of Dr.
Krasnewich who does government research of CDGS at the National
Institute of Health in Bethesda, Maryland. She has been a
wonderful resource and counselor. She had Dr. Lubinsky send
Ashley's fibroblasts for further testing. We went to see her in
February of 1996 and spent 2 days going through tests and meeting
lots of doctors. They even had a clinic conference with about 35
- 40 doctors and Ashley's case was the main topic of discussion.
Because it was research we only had to pay for my husbands
airfare. We also sent our blood to Sweden for the DNA family
linkage studies and for final typing.
When we got the results back from Sweden, Dr. Stibler had
diagnosed Ashley as a type IV. This is the newest found type and
at this time Ashley is one of two diagnosed so far in the United
States. Are we that rare?
We also have Dr. Jaak Jaeken in Belgium doing research on
Ashley's spinal fluid, blood serum and fibroblasts. We met with
him last summer at NIU in Dekalb, Illinois at out 1st Annual CDGS
Conference. He hopes to be able to determine the genetic flaw or
enzyme deficiency in the type 4 disorder. We are hopeful that he
will find the answer.
Ashley is currently doing very well. Her tracking skills are
improving. She is progressing well in occupational therapy and in
speech therapy. We have started to grind some regular food to
give her more variety and texture. She is getting more vocal,
laughing and smiles again. She sits on her own for up to 5
minutes, she rolls. She has also started shaking a rattle. We
have to put it in her hands, but she sures knows what to do with
it once it is there. We are so proud of this milestone. We also
use a prone stander and hope to have her walking in a
gait-trainer soon. We have so much hope for Ashley's future.
We believe this syndrome to be under-diagnosed in the United
States. One of the goals of our support group, The CDGS Family
Network, is to make parents and doctors aware of this disease. We
also want to raise money for research. We pray every day that
more will be learned about CDGS and a cure or therapy will be
available for our children in the near future.
eff:01/20/97