Is It Lowe Or Not Lowe? That Remains to Be the Question.

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