Even though finding an answer (diagnosis for Madilyn) won't fix anything, it will help give us closer knowing we did all we could to help our little Madie. Perhaps all testing will come back normal, and we won't find the answer to her low tone. The doctor's say 50% of the time they never find the cause, and we just have to wait and see what Madilyn decides she can do. The case maybe Madilyn will be part of the 50% with no cause, and she will eventually catch up with her peers. Whether that be the case or not, I am truly grateful everyday to have such a special girl in my life. She lights up the room from a mile away, and you can't help but smile. I will hopefully be posting soon on results, until then I hope and pray for Madilyn everyday!
6 comments:
I am praying for you all, too! I didn't realize Madilyn's middle name is Grace. That is my mom's middle name & my daughter Lauren's. I love it.
Jaime, thanks for stopping by again and saying hello :) I know the waiting part is the hardest. I hope the labs point you in the right direction. Just a little background (sorry long)
Jack was born 5wks prem. no real issues until we noticed the lowtone then the feeding. Most Mito kids do end up with G-Tubes due to their poor feeding and needing extra support while sick. I cant tell you how many times we were able to keep Jack from going to the ER thanks to his feeding tube. I fought it for months and but realized later what a mistake that was. Including all the feeding therapy and $$ we spent trying to get this kid to eat without success! Of course at that time we had no clue what was wrong with him and just thought all he would need was intense therapy. BUT unlike many kids, Jack never took to solids as an infant, he went straight from breastmilk to a feeding tube and formula at 28mos. He wasn’t walking and was very behind gross motor wise. I do have to add Jacks sensory issues were extreme as an infant, he still gags at the smell and sight of foods. He cant even go to the lunchroom with his friends at school because he cant stand watching the kids eat...sad. I do think sensory issues can be related to Mito BUT to this extreme may not be typical with Mito kids in general, as I know many Mito kids that love to eat-- I think this is just part of Jacks “unique issues”
Jacks muscle biopsy was considered “normal” besides some non-specific abnormalities, more fiber 1, smaller in size, z band streamimg ect... but none had anything to do with his mitchondria, all looked normal in shape, size ect... His Nuero and Nueromuscular Dr. told me flat out, Jack had less than 1% chance of having MITO based on his muscle biopsy results. Everytime I brought up MITO, they hushed me almost making feel stupid for mentioning it. So after I fired all his Drs, including his ineffective GI, Jack was seen months later by Dr. Saneto and his team at Seattle Childrens. I alsofired his GI and got a 2nd opinion with another GI and soon after Jack received the diagnoses of Eosinophilic Enteritis (which is sometimes seen with Mito) This is when I got suspicious for Mito even more.
After our first appt with Dr. Saneto, it was only then that I found out Jacks tissue was never sent for the Electron Respiratory Chain testing (ETC) this is very important in helping to diagnose MITO. Thankfully we still had muscle tissue frozen over a year later and Dr. Saneto wa able to send it out to do the ETC. Eight weeks later we had our diagnoses, this is what gave Dr. Saneto what he needed to confirm Jacks Mitochondrial Cytopathy diagnoses. Along with his clinical history and the Plasma acids and Urine organic testing, both were very abnormal. His Plasma acids showed 7 elevations, Alanine being the most significant one, showing a problem with the breakdown in his complexes in the respiratory chain. His urine also had an elevation of Ethylmalonic acid (which has been there for years it seems and his Nueros never flagged it) He also had a presence of 3-methlglutaconic acid, this shouldn’t be present at all.
So it wasn’t just the ETC results that gave him the diagnoses but was the test that confirmed it for what Dr. Saneto already suspected after reading Jacks history. He told me many Mito patients will come in with “normal” muscle biopsies, it’s the ETC results whats important, along with their labs. Jacks ETC showed essentially NO activity in the Complex I+III (-1.2%) and only 26% in Complex IV. They say activity 30% or lower is diagnostic determining Mito. But I do know some Mito Drs consider even higher percentages when theres other evidence with the childs labs and clinical history.
continued, who'd guess I went over-HA
BUT obviously finding the mutated disease causing “gene” responsible is what will truly give a child a firm diagnoses. Until Jack and our family can be tested, we don’t have those answers.
whew, sorry if that was too much info! Please keep us updated and never give up hope. there was a time I wasnt sure Jack would ever sit-up, crawl or walk! BUT he did, just at a slower pace. Hang in there Mom, youre doing everything right :) hugs and prayers-
Heidi & Jack.
We are praying for you to find some answers too. We love ya.
You are in my prayers!
can eny one out there call me to talkabout my son and ur info on this cuz i cant spell and i rilly need to talk to someone that has gone tharu what i am going tharu ppl say things about my son and i get so hart and mad and i dont have eny one to tarn to thank u my phone number is 262 395 0051 i need help
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