Stephanie & Jack's Story
been meaning to write Stephanie’s story (and now
Jack’s story) for a long time. It just seemed
like such a monumental task. The recent death of a very
special baby boy with D2HGA has inspired me to sit down
and write our story. Some people think sick children
are “less”, not the perfect healthy child
everybody prays for when they are pregnant. Our D2HGA
kids and other sick kids are so much “more”,
they are special, and selfless. They don’t judge,
they don’t hurt others, they don’t want
more than we can give, they teach us to appreciate the
simple things. Trust me, I have 2 other “typical”
children so I know how self centred a child can be!
They are better, beyond that – a gift!
Our Daughter, Stephanie, was
born on May 4, 1999. It was the day after our 3rd wedding
anniversary and I couldn’t believe I had a girl!
I felt so lucky. I had a son, Ben, who was born in 1997;
he was almost 2 years old. What a perfect family! I
always felt Stephanie was special; it was intuitive.
I wondered why I felt that way, I had to appreciate
every moment; I thought it was because she was a girl,
what I always wanted.
Stephanie had jaundice when
she was born, it was not a large amount and she never
had to go under “the lights”. I remember
this because she slept a lot, and we couldn’t
get her to open her eyes for the hospital baby picture.
When I finally got the pictures in the mail, there was
a poem about a sleeping beauty and how she wouldn’t
open her eyes for the photo. I thought it was strange
her jaundice didn’t go away until she was 5 weeks
old, she had so little of it to start with. Stephanie
had normal baby illnesses, colds and such. Our son was
very healthy and never sick, so this was all new to
me. When she was 8 months old she was baptized, during
that time she was suffering from a fever for well over
a week. During her baptism the fever went away, just
for that morning, I felt God had His hand in this. It
turned out she had a urinary tract infection. I had
brought her to the doctor a few times, but the locum
(our doctor was away) just gave me the same old story
about “it happens with some babies, don’t
worry”. Finally when our doctor came back, he
ordered a urine test for infection, it was positive!
She suffered for 2 weeks with fever and pain for the
stupidity of a locum doctor! I felt bad too, since I’m
a laboratory technologist and should have asked for
When Stephanie was 2, she seemed
to “stop” her progress with speech. Ben
was very gifted and was reading by the age of 3 so we
just thought we were comparing to him and really she
wouldn’t develop as quickly as he did. At 3 Stephanie
went to preschool, she still wasn’t toilet trained.
I remember those phone calls where I’d have to
go change her & take her home for doing “a
poop” in her diaper. Nobody else’s child
was wearing diapers. I was disappointed with her.
In the second half of preschool,
as Stephanie was approaching her 4th birthday, she still
wasn’t talking more than a few words. Speech therapy
was suggested to us and we went. From there we were
referred to the paediatrican who ordered many tests
on Stephanie and said “this looks like low IQ”.
I remember those words like they were yesterday. Stephanie
was also suffering from various infections ranging from
strep throat to a possible blood infection, - she seemed
to always be sick. I got a call from the paediatrician
in May, just before we left on an Alaska cruise, - Stephanie
had just turned 4. She said there was something wrong
with Stephanie’s chromosomes. It turns out she
has an inversion of chromosome # 12 on the “p”
arm. I took a picture of her in the yard that day, so
I would remember the exact time we found out there was
something wrong with Stephanie. I can’t look at
that picture without crying. Later I found out I too
have the same inversion, as does Jack and Martina (one
of our healthy children). Whether this inversion has
anything to do with D2HGA or if Stephanie has more going
on there than we do, is yet to be determined. I thought
that was all that was wrong & started researching
everything about chromosome #12. A few days after we
got back from our holiday I went to see the paediatrician.
There was this other thing, an increased 2 hydroxyglutaric
acid in her urine, but they’d have to send it
off to Amsterdam in Holland for further testing to see
if she had the D type or L type. The Paediatrician seemed
not too concerned about it. It came back weeks later
that Stephanie had D-2- hydroxyglutaric aciduria. They
told me it was very rare, and at that time there were
about 40 known cases worldwide, even now there are less
than 100 known cases. There is no known treatment or
no cure, such heavy words to hear. How was it that I
was able to meet and marry a man who is a carrier of
the same, unknown, defective gene? I can’t even
imagine the odds of that! Soon after this all the appointments
started. Stephanie also started taking CoEnzyme Q10,
since starting it she is rarely sick and I feel it has
really helped boost her immune system as well as helping
minimize the effect of D2HGA. She also had to have baselines
for all her organ systems so we could monitor the changes
over time due to degeneration. It was such a tragedy
for me to know everyday she will be a bit worse, that
today she is healthier than tomorrow. As a mother it’s
a hard thing to take.
During this time, and still
today, I have become so frustrated with the doctors
and specialists. I’ve always been one to want
to know Stephanie’s test results as soon as they’re
ready; it’s probably the “lab tech”
in me. I felt the doctors were unwilling to share those
results, they treated me like “I didn’t
need to know that”, when, in fact, I did. It would
ease my mind to know what was going on with her, I could
understand what was going on in her body and most of
all it would help me to prepare questions for my next
visit. There was one “glowing” exception,
our geneticist, I could email her and ask questions,
my need for results and information was understood.
If not for this doctor I don’t know how I would
In June of 2004 we had another
baby, a girl we named Martina. I was so afraid she would
have D2HGA, but she didn’t. I was so happy to
have her; she was my 3rd child. Stephanie, unlike other
5 year olds, was not interested in the baby at all.
She didn’t want to help, or look at her. I had
to force her to be in a photo with her. I was accustomed
to her “D2” ways and accepted this. We had
just had her psychological assessment done and her IQ
was borderline for mental retardation. In some parts
she was at a 1 year old level and she was 5 years old.
Stephanie started kindergarten
in a private Christian school in the fall of 2004. I
remember my biggest fear was she would “run away”
during playground time, she had no sense of danger.
She would go with anyone, and she had no fear. I remember
I lost her in the supermarket one time, I was frantic
and very scared; when I found her she was very calm
in the “bulk food” section eating from the
bins. She could care less that her mommy was missing.
In spring of 2005 Stephanie
was diagnosed with ASD,( autism spectrum disorder).
This explained a lot about her, why she always played
by herself, why she wasn’t ticklish, why she put
everything in her mouth, why she would twist her arms
and run way when people spoke to her, and so much more.
Since then I have learned so many children with metabolic
and mitochondrial disorders have autism (the defective
enzyme for D2HGA functions in the mitochondria). I think
every child with autism should be tested for those diseases.
The diagnosis of autism also allowed for more funding
and “help” for Stephanie in grade one, the
In spring of 2006 we went on
a trip to Maui, Hawaii. It was a great family vacation
and Stephanie acted almost “normal”. We
had so much fun, but I was sick for the last week of
vacation. I soon found out why, I was pregnant again.
I remember feeling embarrassed & not wanting to
tell anyone, we had “dodged the D2 bullet”
once before and this was pushing our luck. I didn’t
even tell my husband until a month later. I waited to
go to the doctor and when I finally did I got a lecture
about having my 4th cesarean section; that was not what
I was worried about. I felt so bad about being pregnant.
I was 40 years old, what was I doing having another
baby! I didn’t want to tell Stephanie’s
doctors, but I had to in order to get the proper requisitions
to test baby Jack for D2HGA, after he was born.
At 14:44 on Jan. 3rd 2007 our
“baby Jack” was born. It was my 4th c-section.
I was up and walking 6 hours later. My husband couldn’t
stay over night, so I knew I had to get up to look after
Jack or they would take him away to the nursery. I wanted
him beside me; he had been with me for so many months
inside there was no way I’d let them take him
away to the nursery! When he was 1 week old I collected
his urine for organic the acids test that would determine
if he had D2HGA. Those first 2 weeks with him were so
special I will never forget them. It was before I found
out he had D2HGA, that’s when it all changed.
On a Thursday, when Jack had
just turned 2 weeks old, there was a message on the
answering machine to phone the geneticist. I was rushing
to pick up Ben and Stephanie from school so I phoned
her from the car on my drive to school. She told me
“unfortunately Jack has increased 2-HGA.”
I couldn’t believe it, my sweet baby Jack was
sick too. I said something brave like I knew it was
possible, but I was so sad inside. I phoned my husband
and told him, he didn’t react nearly enough for
my liking (but he’s one to keep feelings to himself)
and I just felt so alone, so sad for my 2 “D2
kids”. When I told Stephanie, who liked her baby
brother about as much as she liked Martina as a baby,
she smiled and said “I’m not the only one”.
I don’t think she knows what D2HGA is but she
knew she was the only one in our family to have it,
so now she wasn’t alone.
Jack also had jaundice when
he was born, he had such a small amount they didn’t
even test him for it. He too took a very long time to
clear the jaundice. He was yellow until 7 weeks old,
and for starting out with such a low amount it seemed
to take too long to clear from his body. He has most
of his appointments ahead of him. He’s had many
blood tests & I always feel bad for him when they
hold him down and take his blood. He looks at me and
cries. I can’t help him.
It is now June of 2007 and Jack
is doing well, he has “low tone” to some
degree, and mildly delayed physically, but otherwise
he is doing well. I don’t know yet, how he will
be mentally. I am so afraid he will develop autism,
a large percentage of D2HGA kids have it. I am trying
to spend so much time appreciating his smiles and interactions
with me, because they may slowly fade away, we are making
memories. He sleeps with me every night, I want him
close. I want him to love me for as long as he will
before he too becomes autistic.
Stephanie is finishing grade
2, she has “teachers assistants” one on
one with her and she likes them. We have trouble with
her schoolwork, and homework is torture for us. Many
times we’ve thought “why bother sending
her to school” but she goes. She loves her brother
Ben more than us. I don’t understand why since
he’s so bossy to her. She questions why people
do things, she doesn’t understand why people are
mean. I think we can learn from her.
People have asked me “how
do I do it?” They feel bad we have sick children,
but I feel bad for them. It’s a whole different
world we live in. I can’t even imagine if my biggest
worry was whether my child failed a test or didn’t
make the team. Stephanie and Jack have taught me to
appreciate just that they live.
Mom to Ben (10), Stephanie (8) D2HGA,
Martina (3) & Jack (5months) D2HGA
to D2HGA Stories
-The support, information and encouragement provided by the PPFL parents is not meant to take the place of medical advice by a medical professional. Any specific questions about care should be directed to a health care professional familiar with the situation.