Mito Blood Work Results

We have finally received Allie's blood work results for her preliminary mito testing.  Allie underwent genetic testing for TYMP mitochondrial gene testing as well as the whole mitochondrial genome testing.  All of her test results are entirely normal.  With these results, the doctor obviously doesn't want to do any further testing for mitochondrial disease.  This is a huge relief for us, however with normal results, it leads us right back to square one.

Allie's Geneticist wants to see her again in a year and they also have another metabolic Geneticist that would like to see Allie.  They have some possible additional testing they would like to do but it's nothing urgent so they will plan to do it next April.

It's been a while since I have updated Allie's site.  Seems as if life is just going bye too fast and there isn't time to fit everything in.  Allie's health is continuing to be good.  She is still struggling with her weight - still weighing in at 26.6 pounds.  She is eating maybe half of her food by mouth but it's sporadic of course.  Some days she does really well and other days she won't eat anything.  She's getting into a habit recently to just ask for tube feedings because she says she doesn't like the food.  She will take one bite of something then say she doesn't like it.  It's frustrating but we are just continuing to be thankful we have her feeding tube to keep her healthy.

No upcoming doctors appointment for Allie in the near future.  We are letting Allie enjoy her summer and trying to keep her away from the doctors as much as possible.  She is enjoying camping, our cottage, swimming and playing with her friends.  With the hot weather lately, Allie much prefers to be inside in the air conditioning.  Allie doesn't handle the hot and cold weather real good.

Overall, everything is going well.  Allie continues to be my spunky little girl. 

Allie graduated from 3 year old Preschool.  My little princesses!

Here is our new puppy Cosmo.  She is a 10 week old yellow lab.  She fits into our family circus perfect!!!!

Blood work for Mito

It's been a long time since I've updated Allie's blog.  Things have been going relatively smoothly lately.  At one of Allie's doctors appointments, a new doctor recommended Allie see a metabolic geneticist.  So, I scheduled her an appointment at the Marshfield Clinic in Marshfield and we met a new geneticist about a month ago.  Come to find out, Allie had extensive metabolic genetic testing done in 2009 when we first met the geneticist at Children's Hospital of Wisconsin. 

Our new geneticist recommended that we get Allie's blood tested for signs of mitochondrial disease.  She said that with Allie's digestive issues and other issues, she could have some form of mito disease.  Of course this has always been in the back of my mind but I know the actual testing for it is extensive and invasive.  However, the geneticist said that we can start testing with blood work and if anything suspicious comes back, then we should proceed with the muscle biopsy.

The blood work is thousands of dollars so it had to be approved by insurance, apparently it's been approved because I received a phone call this afternoon looking to schedule Allie for her blood work.  I'm happy it got approved.  The blood results can take up to 4 months to come back.  This is a long process and I know the waiting is going to be stressful.  I'm very nervous about the results. I'm happy that we are moving forward again with her medical issues, however this testing can determine a lot.

As for Allie's oral eating, she was doing great for about 2 weeks and this past week, she stopped eating pretty much entirely.  She is taking a couple bites but that's about it.  She remains on her Ranitidine for her stomach acid and she's also on erithromycin for an appetite enhancer.  Overall she's doing well and anxious for summer. 

Please keep Allie in your prayers as they do preliminary blood work for any signs of mitochondrial disease.