Today was a really... REALLY long day for us!
So, up at 8 and on the road at 8:40 towards Grand Rapids for our Genetics appointment that i've been waiting for, for months! On the way to get gas, my check engine light went off (YAY. It was on for a couple days.. made me nervous.) We rolled into Grand Rapids after tons of fun construction to drive through, around 10. Woohoo I'm a half hour early! NOT. I got lost. Not really lost.. but when you don't know a city well, it's hard to find the exact address, along with someplace to park while being rushed by 4 lanes of traffic. SOFUN. So, we actually get to the office 5 minutes late. Sit for a half hour. Go into one room and do weight and wait 10 minutes till the next room is ready. Sit in the next room for a half hour doing all kinds of genetic counseling.. asking questions.. family tree.. ect.. then finally we met the Geneticist!
I liked him, a lot. He was familiar with CVS, Mito, and AND Hallermann Strieff! He wants me as his patient too, which is cool since I don't have to go to Detroit now. He's sure Max has a Mitochondrial Myopathy, and says we shouldn't need a biopsy. He wants us to see a neurologist because he wants to be sure if it's neurological or only muscular. We did a blood test today to rule some things out, make sure all his genes are there and none missing. Once this comes back in a month, step 2 will be to do some more intensive gene testing. We are hoping to narrow down quite a bit so that it's cheap. Thankfully, MIchigan works with a few big labs, especially one in Texas that will accept our insurance at least with a small copay which is better than 10,000. He also told me that, Halllerman and Mito have nothing to do with eachother which i was interested in. He has some good friends who are high up in a craniofacial center in Seattle that he's going to mention me to about doing research, since they have yet to find the gene causing hallermann strieff syndrome. So we wait a month, meanwhile get a referral for nuerology up at Devos (GR).
Went to get blood taken in another office.. thankfully it was pretty quick and not TOO painful. Max got to pick his bandaid and a prize.
We left there pretty satisfied (and hungry) and went downstairs. They have a few restaurants and we ate at Smash Burger. I've never been to one but they make a good burger!
Time to go home. Hour 15 min drive. Maybe that burger wasn't a great idea. Driving through construction with awful tummy pain... need a potty... soon soon soon.... (TMI Sorry!) finally get passed construction 15 mins from where we need to be next and I stopped at a BP and rushed Max into the gas station to find a bathroom. Let me tell you, when you have an Emergency bathroom situation it is NOT convenient to have a child with you. Especially one that isn't able to hop out and run with you!
I made it! Ahhh. Got some drinks and Max found a Hershey's when I had my face in the cooler. Get going and off to our next stop.
We got to South Haven thankfully about 15 minutes before our next appt. Orthopedics for new braces. Got stroller, ready to get Max out of the car and he is COVERED in chocolate.. baby wipe bathtime quickly... can't get his shorts clean.. must remind doctor that it's not poop..
Got braces ordered. He wants us to see a pediatric orthopedic surgeon about Max's left food. He has club foot. After all this time SOMEONE finally told me something. He said that it's not looking like its going to fix itself because of where its not moving correctly. Braces will still help but he may need surgery to release some of the pressure and stiffness in the foot. Note: referrals now needed.. neurology and Pediatic orthopedic.. thankfully all of this is in the same place.
That's about it for our eventful day. I"m going to now sit here and be lazy in my AC as I've walked way too much today and am pooped.
Thursday, August 28, 2014
Wednesday, August 6, 2014
Oh my goodness, I'm horrible at keeping updated!! Sorry for that..
So, what's new in the world of Maxtyn? Back in April/May-ish we got a diagnosis of CVS (Cyclic Vomiting Syndrome) and were prescribed a medication to help with it. We also got some suggestions for the constipation and YAY we are doing well with our daily Miralax. Okay, that's enough puke/poo talk..
Something exciting and awesome that has happened to us, we joined a group called I Run 4 Michael. This is a group of disabled kids/adults who are unable to run and are matched with those who run and donate their time and miles to their " Buddies ". We were paired with an awesome lady named Kim. She lives in Texas and we have gotten very close with her! Max loves her daily updates of things that she does and sees, and we do the same in return. We are very thankful to have Kim in our lives!
We are going to be trying out round two of preschool this year. Max has only had ONE CVS episode since May. (YAY!) We are hoping this trend continues and he doesn't have to miss much school this year!
The potty training adventures have kinda been put on hold. The sensory and physical weakness issues he's having are pulling us backwards a bit. His doctor said that he's not too worried right now because Max is doing well getting over the CVS and constipation. Once he's physically able to pull his pants down and sit on the potty, and we can work on the behavior aspects of potty training with therapists, we will try again!
Maxtyn will also be screened for Autism. If he does have it, it would be high functioning. There are a few sensory and behavioral signs that make us (Doctor, therapists, family) think that he might be on the spectrum somewhere. He is SUPER smart too. He's already reading books with minimal help at 4 years old! I'm such a proud mommy. It makes me tear up when I can write him a letter and have him read it and understand it.
Lets see... Oh! Genetics will be coming up here in a few weeks. We are hoping that it (eventually) leads to an official and exact Mito diagnosis. This would be AWESOME. Well, not the fact that we have it, but finally knowing what type so that we may be able to treat some of the symptoms!
In other, non medical news... We have moved into our own apartment in the next town over. We are less than 10 minutes away from Grandma and Grandpa so it's not a huge change for Max. It's a quiet area near a small lake. Max has his own room and we have two bathrooms (YESSSSS). Adam has been promoted, and will soon be getting a raise which will be nice for Christmas time!
As for me, my biopsy wasn't helpful at all. Sadly, that happens sometimes with Mito. I'll be going to U of M in October to see a Genetics team. I'm also getting my gallbladder out tomorrow. YAY! I can't wait to be able to eat without pain every day!
So, what's new in the world of Maxtyn? Back in April/May-ish we got a diagnosis of CVS (Cyclic Vomiting Syndrome) and were prescribed a medication to help with it. We also got some suggestions for the constipation and YAY we are doing well with our daily Miralax. Okay, that's enough puke/poo talk..
Something exciting and awesome that has happened to us, we joined a group called I Run 4 Michael. This is a group of disabled kids/adults who are unable to run and are matched with those who run and donate their time and miles to their " Buddies ". We were paired with an awesome lady named Kim. She lives in Texas and we have gotten very close with her! Max loves her daily updates of things that she does and sees, and we do the same in return. We are very thankful to have Kim in our lives!
We are going to be trying out round two of preschool this year. Max has only had ONE CVS episode since May. (YAY!) We are hoping this trend continues and he doesn't have to miss much school this year!
The potty training adventures have kinda been put on hold. The sensory and physical weakness issues he's having are pulling us backwards a bit. His doctor said that he's not too worried right now because Max is doing well getting over the CVS and constipation. Once he's physically able to pull his pants down and sit on the potty, and we can work on the behavior aspects of potty training with therapists, we will try again!
Maxtyn will also be screened for Autism. If he does have it, it would be high functioning. There are a few sensory and behavioral signs that make us (Doctor, therapists, family) think that he might be on the spectrum somewhere. He is SUPER smart too. He's already reading books with minimal help at 4 years old! I'm such a proud mommy. It makes me tear up when I can write him a letter and have him read it and understand it.
Lets see... Oh! Genetics will be coming up here in a few weeks. We are hoping that it (eventually) leads to an official and exact Mito diagnosis. This would be AWESOME. Well, not the fact that we have it, but finally knowing what type so that we may be able to treat some of the symptoms!
In other, non medical news... We have moved into our own apartment in the next town over. We are less than 10 minutes away from Grandma and Grandpa so it's not a huge change for Max. It's a quiet area near a small lake. Max has his own room and we have two bathrooms (YESSSSS). Adam has been promoted, and will soon be getting a raise which will be nice for Christmas time!
As for me, my biopsy wasn't helpful at all. Sadly, that happens sometimes with Mito. I'll be going to U of M in October to see a Genetics team. I'm also getting my gallbladder out tomorrow. YAY! I can't wait to be able to eat without pain every day!
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