Saturday, September 24, 2016

National Institute of Health update!

Ok,  so I know it's been way too long since I last updated everyone.  It was a crazy summer and then we slammed into fall! Time flying by is an understatement!
Over the summer we took a short break from OT but started pool therapy for PT. Asher loved it and it was a great modality for him! He had always been obsessed with anything water so this was a definite win for him!  Other than that just the usual juggle of parks, kids, friends, dance (Lorelei), swimming, appointments, birthdays, and of course work.
Asher is now 5 years old and started kindergarten! He loves his new teacher and was very excited one of his best friends is in his class! We had to have "the meeting" of course before school began to go over his IEP and so the whole team could learn more about him and what to watch for.
We also got our official date and approval for going to the NIH, the largest research campus in the United States, and we are leaving tomorrow! This was all arranged sometime in August and its here already! Asher, Bob , and I will be going and thanks to fabulous grandparents Lorelei will get to stay home and maintain her normal schedule and routine!
They will be performing a variety of tests and lots and lots of interviews. They will be studying him from top to bottom, including his teeth! It all so overwhelming as our intent is to walk the line of finding answers without turning our son into a lab rat.  I have spoken to a few of the specialists already and so far they have all been very kind and assure me that we can refuse any test for any reason and it will not compromise the rest of the study or our eligibility.
I promise I will keep you all updated as we go but we probably will not have any more information on Asher's study for quite some time. Things take time and some tests take a lot of time to analyze, especially when you are not always sure what you are looking for. I have also been reminded, by several people, the answers we do get may not be black and white and may be more shades of gray.  As you all know, life in the gray is very familiar to us already and all we can do is hope and pray for less of it.  So here's to hope and safe travels!





Saturday, May 7, 2016

"I wish to swim with the dolphins!"

We're on our way home from the most fantastic week that all started with a wish,  some loving friends and family,  and an incredible organization called Wishes & More! Asher's wish was to swim with the dolphins and we were sent on a Disney Cruise by Wishes & More with a dolphin excursion in Cozumel!
It has been a surreal experience! We were able to get away and be taken care of like we have never been before! Wishes & More arranged everything and Disney Cruiseline took it from there! We only had to try and remember what day of the week it was.  We truly could have not had a better experience and are eternally grateful for this experience!

Wednesday, March 9, 2016

Update!

Just wanted to give everyone a quick update on what one little blog can do!  We are very excited to hear, there are researchers at the NIH who would like to further examine Asher as part of their research project! This is a huge step forward! More details to come!

Monday, February 29, 2016

An update from Life in the Gray

Life in the gray.  I refer to that phrase frequently because that is what our life had become.  So called answers, end up with very little clarity and yet more questions. Sometimes it's depressing but most of the time,  it's just what it is. It's like we are trying to navigate in a really dense fog, so dense you can't even see much more than in front of your face. So we keep moving,  attempting to navigate and praying we are moving forward but sometimes find out we have just been walking in circle. Nonetheless we continue onward because you never know what you will stumble upon in dense gray fog, some good, some not so good.
So as an update to our journey, almost 2 weeks ago all 4 of us had our blood drawn and sent to the University of Michigan! We won't know anything for quite some time. They actually stated, "a long time," so what that actually means I have no idea because their idea of time is much differnt than mine.  For example,  an urgent appointment is someone within the next 3 weeks.  We have also been warned that this may not provide any answers and if there is an answer,  it may be more gray. So we continue to hope for the best but mentally prepare for the worst.
In the last few weeks Asher also got glasses. The fact that he needed glasses really want much of a surprise, both Bob and I require correction, but what was interesting is the Dr he saw was extremely interested in Asher's diagnosis, as her husband is an animal neurologist and sometimes works to coordinate human doctors with animal scientists for those who have a candidate gene diagnosis!  She then said they would be in contact with our team and try help in any way they can. 
Aside from that,  Asher's hands are still weaker and he has an occasional intention tremor now in his hands.  We noticed it while he was sick with a cold.  His nuero symptoms are always worse when he's sick,  as are most people with neurologic conditions. The plan is to have an EMG performed on his upper extremities when he has the skin patch biopsy done,  as he will need a little sedation for both.  We are just waiting to see if we can coordinate with the researchers in the UK, as legislature makes it difficult to send samples over seas.  The tissue samples will be analyzed here with some help from the pathologist who worked with the dogs.  The question is do we need an additional sample to send to the UK. We would rather to get it all done in one shot.
Big thanks again to all who have shared.  New readers continue to see this around the world and we have had several different contacts of interested parties

Saturday, January 30, 2016

Progress, or something like that

Just wanted to give all of you out there a little update on what has been going on this week.  People are still continuing to share around the world and we have been contacted by several different people about resources/ tools that are available to us. Our team of doctors have been hard at work as well.  Communicating back and forth not only with each other but also reaching out to another researcher! Just this week there was a press release of a Dr. at the University of Michigan, about a set of siblings who have ataxia and it has been contributed to ATG5, a family member of ATG4D. They were able to examine it and determine how the autophagy process was disrupted.   (http://www.biosciencetechnology.com/news/2016/01/rare-find-two-children-leads-discovery-about-autophagy) Our team reached out to them and they are very interested in studying Asher!  They are a project that already has funding in place and it is much easier to ship samples to Michigan than across an ocean! The catch is, these samples are fragile so due to our cold climate can not be drawn until this spring and we have been warned it will take a long time to process the samples.  So, yea more waiting but it still progress none the less. We also have been warned the answers we get back from any type of research may still be more gray than black and white.  To which my answer is, as always, I have to at least try.
We also have come closer to setting a time to do a skin patch biopsy.  The materials needed have been collected and the pathologist located, who will also be working with a pathologist who worked on the project with the dogs.  The team will be sending pictures of the slides for their examination. All that is left to do on this, besides scheduling, is a little more back and forth between the docs on the fine details.  We hope to only do this once.
In the meantime, we continue to go to work, go to multiple appointments, therapy, and try to live a "normal" life. Asher again is showing great strides, thanks to his SMOs, in PT however has taken a backslide in OT.  His hands are weaker.  He also been more behavioral this week and we have the challenge of determining if he is doing this because of his difficulties, possibly pain, disease progression, or just being a 4 year old boy.  All are very possible.
Lastly, I just want to thank each and everyone of you for your love and support.  We could not have gotten this far without you.  Your willingness to simply share our story has made a big impact on our lives.  Thank you! We could not be more grateful!

Thursday, January 21, 2016

Forward Movement!

We have a researcher! A researcher was found from the UK who has been studying ATG4D in a functionality sense. We have been in contact via email and I am currently working on getting him in touch with Asher's doctors.  We also have a couple of more leads to look into as well however Asher still remains the one and only at this time.
Asher also had made great strides himself this week.  He was fitted for SMOs  (a type of brace/orthotic) and he took them home almost 2 weeks ago.  He loves them! They have batman on them,  which he chose of course,  and was able to do things in PT today that he hasn't been able to do.  A  simple 2 footed jump is nothing to most of you but it was a big step for this guy!  He has also has been able to run and walk more easily with less falls.
This entire week we have felt incredibly blessed from the outreach and support of everyone. This little blog has been viewed over 9,000 times and had reached more than 10 differnt countries.  A simple share from a friend, family member,  and/or coworker has gotten us here!  I urge everyone to keep sharing and follow along on this journey with us.  Thank you!
For all those first timers,  make sure to read "seeking answers"

Monday, January 18, 2016

Seeking Answers

My name is Jennifer Lange.  I am a wife, a nurse, and the mother of 2 children Asher (4 years old) and Lorelei (8 years old).  My husband, Robert, and I are desperately seeking answers for our son's disorder, a neurodegenerative vacuolar storage disorder that has only been identified in dogs with changes to Atg4d as the identified cause.  http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1005169


Asher was born at 41 weeks gestation weighing 7 lbs 11oz. He sat up,  crawled, climbed,  walked and talked within appropriate times. He was strong but always a little clumsy. At his 2 year well check up,  the pediatrician noted he was a little floppy for his development.  She suggested getting him in the pool and try and strengthen up his core muscles. So we put him in swimming lessons,  let him "swim" in our big tub and things looked good.


Then late August 2014, Asher was 3 years old and 2 months, we were out for a walk and stopped at a park.  He got out of the stroller and was very euphoric and extremely uncoordinated.  It lasted for a few minutes and then passed however the ataxia was still present. He was no longer able to walk up the stairs in a reciprocal manner, no longer able to pedal his tricycle, was having "staring" spells and was falling several times a day.


We took him to see a neurologist who ordered an EEG, a battery of blood work,  and an mri. His was relatively normal with only short epochs of posterior delta slowing while awake. Initial blood work was fine however his mri showed moderate cerebellar atrophy. The neurologist ordered more blood work and an EMG. Blood work was normal except his carnatine level was mildly low. EMG was also normal.  And we were referred to a biochemical geneticist for further testing,  as he was thinking this may be a mitochondrial disorder.
In the meantime,  Asher was started on keppra as he was suffering absence seizures and lost consciousness on two occasions. He also started physical therapy (PT) and occupational therapy (OT) to help with some of his strength and coordination.


In November 2014, we saw the geneticist.  They wanted to do whole exome sequencing, not just mitochondrial testing. They explained this was the latest and most exhaustive genetic testing available at this time. Of course we had to wait for the insurance company to sign off and then wait for another appointment in order to draw the blood.  Dec 17 2014, all the of us had our blood drawn and now all there was to do was wait and wait.


At this point, we had fallen into a routine.  Therapy 1-2 times a week, watch for seizures,  increase Keppra,  work,  more blood tests,  an absolutely useless second opinion from neurology, and watch the severity of his symptoms wax and wane.
Finally at the end of June our tests results were back however the clinic told us they needed to do more research and they wanted us to make an appointment to come in and get the results.  An "urgent" appointment was made for 3 weeks out.


At the appointment they informed us his test results were negative for both definitive mutations and variants in genes possibly associated with reported phenotype. However, his results for candidate genes revealed 2 variants of unknown clinical significance on ATG4D, c.266G>A(p.S89N) was paternally inherited and c.839a>G(p.Y280C) was maternally inherited.   This mutation was only recently identified in a particular breed of dogs as the cause of a neurodegenerative vacuolar storage disease, in which my son exhibits the almost exact same symptoms, and they are 97% positive this is cause of his disorder.  The genetics consoler further explained the mutations on ATG4D that my husband and myself possess, are known but are very rare.  She even stated, "The chances of either of you having children with someone else who has a mutation on this gene are so low, you have a better chance of winning the lottery. We have gone from what we thought was a rare disorder to an extremely rare disorder. Asher is human number 1."


The geneticist then gave us a layman's term description of what is occurring in Asher's body.  He compared the body to a house needing all different working parts to make it work.  Autophagy genes are needed to pick up the trash from around your house to trash can. In Asher's case, his vacuum is broken and they don't know how to fix it.  So his cells are building up with toxins and outdated material without an effective way to clean up and are not able to maintain neuronal homeostasis, which makes this a progressive disease. We then agreed to publish these results in hopes of getting more answers.


Currently Asher's symptoms wax and wane in severity.  His hand grip is further weakened, he has become more lethargic, and has somewhat of an activity intolerance along with all of his other symptoms. We continue on with PT, OT, and various doctor appointments and specialties.  He attends pre school and we continue to try balance raising an otherwise typical 4 year old boy and his difficulties.
We are searching for answers, any information or any "share" of this blog is much appreciated.  All it takes is for the right person to read this.