Specialists, specialists, and more specialists

So here is the current list of specialists for Wesley:
Special Care Pediatrician
Dietitian
Gastroenterologist
General Surgeon
Neurologist
Hematologist
ENT
Audiologist
Geneticist
Physical Therapist
Speech Therapist

And now I have my very own specialists too:
Endocrinologist
Hematologist
And if we decide to have another baby, a perinatalogist 


So here's the latest on the medical front. Out of all the tests my doctor did, 3 things were abnormal. 
First, I have hyperthyroidism which indicates that I probably inherited Graves disease. Not a huge deal but it means I will probably have to take thyroid medication for the rest of my life and regularly see an endocrinologist. Also it makes future pregnancies more risky and require extra monitoring. 
Second, my d-dimmer value was slightly elevated so that combined with a potential clotting disorder and high heart rate I had to go get checked to make sure I didn't have a blood clot in my legs or lungs. That meant I had my 3rd CT scan ever (all in the last 6 months) and a leg ultrasound, which both came back clear, woohoo. 
The third abnormal thing was in my blood coagulation panel. Everything came back normal except the MTHFR gene mutation (compound heterozygous). Right now this means that I have to go see a hematologist to get more tests done because it puts me at high risk for homocystinuria, a blood clotting disorder that could have caused all the problems with Wesley's birth. Also, having this gene mutation means future pregnancies would be more risky and would require extra monitoring and daily medications.


So, after I found out all this information about my test results, I got voice mails from Wesley's neurologist and from the metabolic and genetic disorders clinic at Children's saying they have some test results from his genetic testing and he needs to be seen "more urgently than next available" so they went ahead and scheduled him for next week. After playing an extensive game of phone tag with the neurologist, I got a hold of her and she told me that he has a Chromosome 9 abnormality (which is totally separate from my abnormal genetic tests). This abnormality can lead to malnutrition so they want to have him seen by the geneticists as soon as possible to get further testing done. This is a really scary diagnosis. With cerebral palsy, the damage that was done at birth is over and the rest of his life is spent dealing with the consequences. As sobering as that might be, to add a genetic abnormality to the mix means things could get worse, more symptoms could start appearing. 


All this time I've been anxiously awaiting an answer for why all this happened to Wesley. I wanted a medical explanation so my mind could stop conjuring up the worst possible scenarios. But, with all of that I had pretty much conceded to either it being a freak occurrence that wouldn't ever happen again or that I would have one of the normal clotting disorders that is fixed simply by medication. Now that we are close to having an answer and everything is pointing towards genetic abnormalities, I kind of want to go back to ignorance. I know that it is best for us to get answers because then we can deal with whatever the situation is, but I'm afraid that the answers we are going to get may be our worst case scenario. There are a lot of things that can be treated and managed, even cured, but if Colby and I have "bad genes" there is little to nothing they can do about that. Now I am by no means a geneticist so more of this is probably fearful conjectures rather than reality, but the idea of having a genetic problem that could mean more problems for Wesley's future and having other children would be extremely risky is just horrible. 


So this week we have 3 therapy sessions, a pediatrician appointment, a geneticist appointment, and I have an appointment with the hematologist. Then the following week, we will go back to see the neurologist again.  Hopefully I will have a better understanding for what our future really holds (rather than all of my fears) once we've talked to all the doctors.  Prayers are greatly appreciated!


On a side note, since it was so hot today Wesley has been hanging out in just his diaper. I think he likes not wearing clothes :)