More findings, more testing….

Where to start on this one….Our already “complex” child has become even more complex. We sent Jacob’s EM grids (slides from his skin biopsy from March, 2008) to a pathologist in Czech Republic. He is considered one of the world’s top pathologists for Batten Disease. When we sent them, we were hopeful that they would contain what he needed and we could avoid another biopsy. An early email back said the slides were fully representative (different layer/cells….lots of medical terms) so he would start reviewing them. We received another email giving a very brief statement a couple weeks ago saying he acknowledged the presence of the fingerprint profiles and said “atypical variant” of NCL (Batten) but also mentioned other lysosomal abnormality but was not specific so I just assumed it was NCL related. We just had to wait for his final report which he said would be sent out the following week. That report was emailed this past Friday. There are medical terms that are far above my understanding and after sending an email regarding it to the researcher in London, she said this type of report is not one parents usually get to see. But we have it and the things we saw and read were even more devastating. The original reason, which I felt strongly about, for the muscle/skin biopsy was to look for Mitochondrial Disease. The report we received from Mayo, back in April 2008, stated the findings for Neuronal Ceroid Lipofuscinosis (NCL) and further stated that the mitochondria were normal. The report from this Dr. shows another story altogether. Aside from the finding of the Fingerprint Profiles (which were few but present), he stated a lot of abnormalities in the mitochondria. He also forwarded pictures he took with all the abnormalities circled and pointed out the Fingerprint Profiles. He even has one picture labeled “grossly abnormal mitochondrion”.  This report is very detailed but the summary is hitting me hard. He has two summaries. One is listing “lysosomal line” showing abnormal lysosomes. The only structure worth considering for NCL is the Fingerprint Profiles. The other summary is for “mitochondrial pathology”.  He questions this as being a primary or secondary diagnosis. He lists mitochondrial abnormality and his final comment was “progressive mitochondrial degeneration”.  He is suggesting a different biopsy now to evaluate neuronal pathology. So our avoiding another biopsy has now resulted in him needing one. I ran that by the researcher in London and she asked permission to forward all of this info to two other very experienced pathologists (one in the UK and the other in Germany) to verify the need for the type of biopsy that is requested. We are now dealing with two different things. I have been told that mitochondrial abnormalities are not unheard of in NCL’s but are not normally a big part of it. There are some diseases/disorders that can cause a secondary mitochondrial dysfunction. I am wondering if the mitochondrial portion is really the cause of his history prior to the seizures. That would certainly explain a lot! We are so thankful that so many Dr.’s and researchers are willing to help us. I know from their standpoint, this case is beyond unusual which certainly attracts their interest at the same time, the few we have actually spoke to do have a place in their heart to try and help him and support us the best way they can. On their end, they can only do what is scientifically possible at this time. On our end, we can pray and try and hold on to hope. We are not going to stop trying to save his life.

I can’t even begin to tell you how I am feeling. Constantly trying to fight back tears and trying to stay busy so I don’t think about it all the time. I am feeling so dizzy and in a fog and I know it is from stress and worry. I am upset that Mayo said his mitochondria were normal. Then again, trying to give them the benefit of the doubt and wonder if two different tests were performed although the grids are the same. Does one have better equipment to view? Mayo stopping at finding the fingerprints and just stopping assuming the mitochondria were normal? I don’t know what happened. I am in utter shock that the very disease I felt so strongly about him having is now surfacing and a high probability that he has both Batten and Mitochondrial Disease. I am not jumping in to accept a Mito diagnosis along with Batten just yet as I want his case to be reviewed by Mito Dr.’s. Thankfully I have resources that I have access to that give me the names and locations of the top Mito Dr.’s in the country (none in MI).  

Of course we do not have to do any more testing. We don’t have anyone telling us he does not have Batten. Only countless ones saying he does. This biopsy would give us a clearer picture on what we are dealing with. Jacob is such a willing child to go through all of this. He enjoys the attention he gets. I even videoed his excitement once when I told him he was going to the Dr.! If it were traumatic on him, the answer would be no. If there is a chance that any of this could lead to a way to help him or other children, then we have to try! I don’t want regrets for not trying.

Now it gets frustrating as we are working on getting his Neuro on board with us. He keeps claiming he will do anything we want/need but when we ask, he is less than willing. We sent him the report from the pathologist with the new findings and are waiting to hear back from him. He may be intelligent but bedside manner and patient/family care are not his priority. If it were his child, he would stop at nothing to try and help them. So, here we are, not willing to stop fighting!

Please keep us in your prayers. Not sure how long this testing process is going to take but it won’t be overnight as so many are involved. God is with us and He will see us through all of this. I just need reminders of that now and then. Especially in moments where I just feel so helpless. We are so very thankful that Jacob is not following the “rules” and doing better than expected.  We had his retina specialist appointment last week and no changes were noted in 6 months!

Last week we also celebrated 7 years of Jacob being forever ours! Although he has been in our family since he was 2 days old, we returned to Ft. Lauderdale to finalize his adoption. He was just shy of 6 mos. old! We sat in the judge’s chamber and experienced one of the greatest moments with Jacob! The only drawback was the judge was an Ohio State fan (GO BLUE!)! We celebrated that day in Orlando with our friends. This year, Sophia helped make a cake complete with star sprinkles and we sang “happy special day” to Jacob. He was thrilled to blow out the candles!  He loves any chance to celebrate and blow out candles! Every day, we are thankful to his Birthparents for giving us the most precious gift. Some days we are reminded even more just how great that sacrifice was. Jacob, you are such an amazing child!