The substitute pediatrician called me
this afternoon to tell me the lab results from checking his thyroid
were fine. Sometimes that could be an underlying issue with
constipation in babies. Then she asked if the other doctor called
and told me about the results from the genetic test that was done on
Noah 3 weeks ago. I said no. He scheduled an appointment in late
September to go over them. She then said she had the results and if
I wanted, she'd talk to me about it over the phone. What? Of
course!!! But then reality set in and I quickly thought, “Oh, I'm
going to find out today if he has what I've suspected for several
months, right now! Am I really ready to hear this?” Well, too
late because she had already started talking.
Here's what I got from the
conversation. He does have a mutated gene and most likely the cause
of the problems since he's had since he was born. However, where the
gene is located is NOT typical in a child with Lowe. From the
research this pediatrician did, she explained that a gene for a Lowe
patient is always in the same place but then she went on to say that
she's still doing research on Lowe so she didn't know if there were
variations of Lowe and he could still have it. If not, then it's not
Lowe but is something and now comes more questions and even
less answers...well, what else is new?
Next steps--They want to give Noah
another kidney test to make sure they are working properly. The
other test they did recently showed his kidney's were functioning
normally but because of this gene and what is common in Lowe
patients, the doctor wants to do a more thorough test to be on the
safe side. She also wants me to be tested to see if the mutated gene
in Noah could have come from me. Great. I know it's not something I
did on purpose but you still can't help thinking those things when it
involves your kids. You only want the best for them and to think you
caused what they have...Ok. I'll stop there. Anyway, they also want
Noah to see the geneticist at Texas Children's Hospital to figure out
what it could be if it's not Lowe.
So, that means...well, the
obvious...more doctors appointments on the horizon, but at least we
are getting somewhere? I'm not sure how to feel about the results of
Noah's lab tests. Is it Lowe? Is it not Lowe and something
completely different with symptoms we have yet to discover...Oh, the
questions...they keep coming...
One more thing and then I'll end it for
tonight. I am upset (yes, again!!) that these doctors I have dealt
with here wait so long to tell you anything or make it seem like it's
not a big deal when it's a huge deal! Especially when you are
dealing with a baby who is developmentally behind and we don't know
why other than we now know he does have a mutated gene. If the
results were in, why didn't this other doctor call me? Go ahead and
say the things this pediatrician said instead? This pediatrician is
not Noah's regular doctor but I swear I already feel like she's done
more for me in 2 days than I've received from any other doctor in
Texas from the beginning! It just feels like another example of push
the patient in and out...let's get that money coming in...let's build
even more medical offices and become gigantic and this whole process
becomes worse! There is something to be said about small doctor's
offices. Large medical entities, I've never had good experiences. I
just don't understand it. I just feel like my son doesn't matter to
them and that makes it all so much worse to get the answers you need
and be able to know how to best parent our son with his special needs
when you have no answers and keep waiting for them....patiently... I
understand waiting when it's necessary. I waited 3 weeks for these
results but I was supposed to wait about 6 weeks before I knew what I
was told today. If I hadn't taken Noah in yesterday, I wouldn't know
what I do now or have this doctor helping me get appointments set up
to get things moving along so we can get this figured out and get
Noah on the right path. I know I've said it before but it's just so
frustrating. Incredibly frustrating. Irritatingly frustrating.
Alright. I'm done. For now, I'll get
off the soap box and settle down and watch something funny. I need a
good laugh right now. Hopefully I can snag a few before the zzzzz's
kick in.
Night all.
Jenna