Summer vacation begins
Today is Jacob’s last day of school. I think he adjusted very well to his new school and made some friends. He went back and forth all year saying “I don’t like school” and “school is fun”. He certainly learned how to work the system! He loved being in the nurses office and often faked that his tummy hurt so he could go there. Silly boy! He even made it look like he did not feel good last Fri. when they were putting him on the bus. The bus driver said he looked like he was going to throw up (although a surgery he had makes it so he can’t) so the nurse called me to come pick him up. That of course was Nick’s last day of school so I had the other 3 with me to pick him up. The teacher knew I had the others so she said I could pick him up in the classroom outside that door. As soon as the teacher opened the door, I knew he was not sick. In fact, he snickered at me! I asked if he napped and she said no so we both knew he was not actually sick because he would have done nothing but sleep. We will see what he does next year! Hard to tell sometimes if he actually does hurt and I would hate to dismiss the fact that he really does need to be home.
I have a folder and a wall of “work” and some art that I can look back and see how much he changed over the year. Although he still can’t identify all the letters of the alphabet, he did learn how to write some other letters. Writing his name improved but toward the end of the year, his processing got mixed up and now often gets it wrong. His ability to color improved a great deal as well. They worked hard on getting him to be able to work for longer periods of time and completing more of the pictures. His teacher said that “writing” was his favorite thing to do. I am so thankful that he actually made friends this year and became more social than he was before.
We pray he will have a good summer. Never know what the heat will do to him since it takes such a toll on his body. We are going to attend the Batten Disease conference in Chicago at the end of July. Other than that, most of our summer will be home. This will be his first summer with our CLS worker so we can adjust the times and go out and do some day activities!
Thank you for all your prayers and support in helping us with awareness. Thanks to Facebook, so many more are aware of what this disease is. I am connected to nearly 200 Batten parents (including a couple researchers, grandparents and siblings) from several countries and it was great to see so many pass along links, share stories, fundraisers and continue to support each other. Can’t imagine going through this without them. God is good!
We need your help!
This weekend, June 4-6 is Batten Disease awareness. We all know the definition of awareness but most don’t know what Batten Disease is. We didn’t know until 2 years ago when our son, Jacob, was diagnosed. Since then, we have dedicated ourselves to making others aware so we can find a cure. We have talked to and met so many families that have had a child/children earn their wings from this disease and others who still have their child/children fighting the battle. Losing a child is never easy no matter how it happens. For these families, it’s watching their child die a little more each day. Losing more of their vision until is is gone, ability to walk, communicate, seizures, behavior issues, needing a feeding tube, memory loss…..bedridden….early death. How about the siblings? It’s not just the parents that see this everyday, it’s their siblings too. They also feel the pain though emotional rather than physical. Many parents struggle trying to make their other children’s lives as “normal” as possible. One phrase I hear the most is “I could not do what you do”. Truth is, you could and you would. You would do anything and everything in your power to try and help your child and give them the best quality of life that you can. It’s exhausting emotionally and physically but that does not stop these parents!
If you are just finding out about this disease or want to know more about it, please watch this powerful video.
http://www.youtube.com/watch?v=DQChRSCWtYA
What can you do? Help us make others aware of this disease and the need for funding to find a cure. It helps even if you get others to pray for these families as we all know the power of prayer. Please pass on one or both of these websites www.jacobsprayer.org or www.bdsra.org
Together we can make a difference in the lives of these children!
Thank you!
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!
Jacob Parent/Teacher Conference
Had Jacob’s parent/teacher conference tonight. They say he is lots of fun to have there! I bet he is! He can be such a character and so cute when he wants to be! I can feel they honestly love having him there though. Got to see some of the testing they do. Not surprised at any of the results being on the low side. Still hate seeing it on paper though. Some of it is harder for him since he still can’t identify the entire alphabet so “writing” is not easy for him. He is writing his name very well now. Funny how he is now writing his name JacobA. Not sure why or where he got the idea of the A at the end! He loves drawing people. He came home last week with a picture that had 11 people on it. I asked who it was and he said our family! I had to ask who everyone was and was glad to find he added some grandparents to it! I thought we were going to have 5 more kids! He loves listening to stories and has some comprehension skills. We are not sure what we are going to do about next year. He is almost 7 1/2 and in 1st grade. He is at a Kindergarten level with some back at pre-K. His class is currently a K/1 split and his best friend is in K. We are looking at the possibility of keeping him in 1st again. They can adjust to his needs if we advance him. We just want him to be happy. We know we can’t always hold him back as he needs to be with his peers too. Still, if we hold him back, it would be a bonus having his friend there. He is not doing well in math. That is a big struggle for him. He can count to 13 consistantly but identifying other numbers, adding (with exception of some hands on with help), telling time….are not there.
He is still sleeping a lot. The week before he got sick, the teacher said he fell asleep on a bench outside the classroom after getting off the bus while waiting for her to get there with some other kids. She said Mr. Mcgewin (the para pro) has to wake him up when they go on to other areas of the building even knowing he could easily sleep a couple more hours. They can pick up on his cues of being tired. Wish I could keep him awake more. I feel like he is missing out on so much. We did have lots of laughs talking about how Jacob loves to play school at home and as we talked about what he does, she admits is how she does some things! In addition, at home, he pulls out a blanket and pillow since he also associates school with sleep!
Talked to his speech therapist and he is doing very well with her. Looks like they have a lot of fun! I am pleased with what she is doing with him. We also talked to his occupational and physical therapists. He is maintaining. He is pretty static as far as improvement. I would rather see that then going down so we will keep up with what he is doing. His OT pulled me aside talking about his strength. She showed me what she is working on. She sees him tire so easy and then he starts to shake and he closes his hands. She showed me a device they measure strength with. She had a chart that said his age should be around 22-24. She said that a decent function would be in the teens. Jacob’s last score was a 4 on one hand and 6 on the other. I knew he was weak but seeing it in this perspective is different. I asked just what does this mean. She said it is basically how long he can do a task. He can’t do things very long at all. I see that at home. We have to keep working on building strength with different tasks.
They do not see the behavior we have at home. In fact, we brought Katie (our CLS worker) with us tonight and she was shocked and agreed he is different at home! Of course, we were not even out of the building and he had started up. Got really bad when he was home. He had his demands and things were just overwhelming for him. We had a hard time bringing him back to calm. We still know that part of the reason he does better at school is because it is predictable. He has a routine. At home, with 3 siblings, we can’t be that strict with a routine. The kids are all growing and doing things at different stages within 10 yrs age difference. He can recognize a lot and knows when things are different. I can’t imagine how he feels. I know some is just how things are to him. He does not know it any different. On the other hand, he can recognize what the other kids are doing and knows his limits to an extent. I just wish he had a friend to play with at home. Someone to have come over or him go to their house. Be like a typical kid. That is what he wants. He sees Nick doing those things and having sleepovers. He would love to participate in things like that. I know that part is going to get worse when he sees Sophia doing the same. I need to find someway to make part of that work for him.
Rob has been asked to run for the board at the BDSRA. It is a postion that we feel would benifit them and us. It would require travel a couple times a yr. but everything else can be done from home. Please pray he gets this positon. We are excited about this opportunity!
Thank you all for your support! If you get a chance, drop a note to Jacob in the messages!
God Bless,
Chris
The latest in our search for answers
As most of you know, all we have to go by for Jacob’s diagnosis of Batten Disease (NCL) is his skin biopsy and clinical signs. All genetic testing known at this time for Batten Disease has been negative. Some of the genetic testing was run twice. We have been going back and forth talking to Lance at the BDSRA trying to get the next step set up. He has helped us so much on our quest to find what form of NCL Jacob has. In the last few months, we have been busy getting the pictures of Jacob’s biopsy sent out to some Dr.’s/researchers to verify what the Mayo clinic had seen. At first, it was requested that Jacob have another biopsy since what we first sent out were not clear to read. Our copies were photo copies of the original so we were able to get a hold of the originals, scan and send out. That made a huge difference and a second biopsy was no longer necessary. At this time, there is no longer any question on IF Jacob has this. What has been seen is convincing enough to say the Mayo is correct.
There is a Dr. in London who is the lead coordinator for all researchers looking for new forms of NCL. We are talking with her and she is trying to help us. She had asked for me to email her a brief history but I sent her a small journal! I don’t think she was prepared to learn about Jacob’s complex medical history before this diagnosis! She also requested some other results and summary reports. One thing that was said so far is that the skin biopsies are the most decisive way to diagnose Batten Disease even when all genetic testing is negative. It is also stated that this is a very unusual case. We are very excited to know that we have the top researchers in the world interested in Jacob’s case! How awesome is that? There is no guarantee that they will be able to find our answer or if they can, it may already be to late. Still, we have to hold on to our thread of hope that they will find out in time to try and save Jacob. I still have people asking why is this so important to know. Why put ourselves (Jacob) through all of this? We could sit back and do nothing but that will leave this disease to continue to take our little boy away from us. Little by little, it will take everything away from him in the most horrific way imaginable. By doing all of this, it leaves a door open to find a cure for him. Since this disease has different forms, the trials are different as well. There is a study going on at Cornell University right now for late infantile (LINCL) Batten Disease. The juvenile (JNCL) has a drug trial coming up as well but still short on funding. We cannot even submit Jacob because he is unspecified NCL. It hurts. It hurts not knowing because we can’t help him. At least, we can’t help him in a way to stop this disease. It is promising to hear that there are trials in the works. Researchers are encouraged that these trials may lead to a cure or if not, perhaps a treatment to slow the process down.
Someone recently said that they do not want to look at their child as dying from Batten Disease but living with it. I think those are very powerful words. I have seen and heard how Jacob’s life has affected others. That is God’s grace working through Jacob. It is beautiful to see and I am so Blessed to be part of that.
Please continue to pray for Jacob and all the children who are affected with Batten Disease. We would be so thankful if you are able to share this link with others so we can continue to raise awareness about this very rare disease!
Rare Disease Awareness Day
Today was rare disease awareness day and we wanted to thank all those who helped promote and bring awareness to Batten Disease. We emailed, twittered and Facebooked links to the fan page today and had many people that passed along the link.
We also wore our jeans today to show our support. Normally this would be a sign of wanting to be comfortable, but doing this as a family on a Sunday while going to church was a little unusual for us, as we always try to dress a little nicer when going to church.
Because Batten is such a rare disease, little is being done for research and not enough funding is available. Only by raising awareness can we hope for more funding for research which will lead to an eventual cure. We have no doubts that a cure will be found for Batten Disease but we can only hope and have faith that it will be found before it is too late for Jacob and all the other Batten friends we have made.
Please continue to keep us in your prayers as well as increasing the public awareness of this horrible disease. WE WILL BEAT THIS!
Rare disease day is this Sunday, February 28th! http://www.rarediseases.org/
When people find out Jacob has Batten Disease, they tell me they have never heard of it. My response to that is “funny thing, I had never heard of it before either”. The actual words we heard were Neuronal Ceroid Lipofuscinosis (NCL). Then we discovered what those words meant. The following is taken from the BDSRA website (www.bdsra.org) “The forms of NCL are classified by age of onset have the same basic cause, progression and outcome but all are genetically different. Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten Disease/NCL become blind, bedridden, and unable to communicate and it is presently always fatal”.
Because this day is coming I want to take the opportunity to continue to spread awareness. Research for Batten has the potential to help others diseases such has Alzheimer’s (http://www.ibridgenetwork.org/cornell/method-to-treat-alzheimer-s-disease-by-increasing-the-abilty-) and Parkinson.
It’s not just lack of funding for Batten Disease; it is lack of awareness as well. Who else will be the voice for these children? Would you do nothing even though a cure could be just a reach away? The only way to get help is to ask for help. That’s why I am asking you to help us spread awareness about Batten Disease. You can copy and paste the link to Jacob’s Carepage www.caringbridge.org/visit/jacobgeer or www.jacobsprayer.org and pass it along to your friends and family. If you have not seen it already, please watch this video http://www.youtube.com/watch?v=DQChRSCWtYA . It is very informative about the disease. You can also look up Batten Disease on YouTube and you will see many videos from families who are also trying to reach out.
As I have said so many times before, the clock is ticking. Only God knows how much time Jacob has. Now, I know there is a reason for everything. Lessons to be learned. Life experiences to be had. Grace from having a child like this. As much as I want to live in the now, without a cure or even treatment to slow the course down, I know the future and what this disease is going to continue to do to Jacob. I say continue because it already has taken a hold of him. The path Jacob would have is what I mentioned above. We want him to fight this. We want to keep him active both physically and mentally in the hopes of prolonging skills. At the same time, we want to enjoy our time with him and cherish all the memories. One person had a great quote the other day “my child is not dying from Batten Disease but living with it”. It puts things into a different perspective. I like it. Jacob is alive and thriving despite this diagnosis.
I have met so many children with Batten Disease and so many families that have been affected by it. Although we gather together (at the annual conference and meetings here and there) and connect on Facebook to offer each other support, it would be wonderful to celebrate beating this and for the families who have lost their child/children to know that other children will not have to have the same fate.
Could you help Jacob and the many others like him? Could you take a couple minutes to pass those links on? Even if you reach out to only one person, that one person could make a difference.
I have business cards for Jacob’s Prayer. I am willing to send some out if anyone would like to help spread awareness that way too. Just send me an email chris@geerfamily.com and let me know if you are interested! Also, if you have any ideas for other ways to help spread awareness or raise funding for research, please let me know! We need to encourage others to gather together to join the same fight!
I don’t want to keep shedding tears of sadness. I want to shed tears of joy that we BEAT this disease! I know it is God’s will for whatever happens. If not a cure for Jacob, then all I can ask God for is the strength to get through this.
BDSRA Monthly News Flash
Please check out the most recent BDSRA Monthly News Flash
http://hosted.verticalresponse.com/529003/44775cfeb5/1707503029/3d20999b71/
Disney 2010
We returned from a trip to Orlando this weekend and had an incredible time. Grammy took our family and Mike’s family (her son) down for the week. We had 8 kids and 5 adults in an incredible house with 6 bedrooms, a game room and a heated pool/spa. All the kids had so much fun playing together. Jacob was treated like any other kid and included in all activities. He even rode a roller coaster at Disney because his cousins were riding, which completely shocked us because he normally does not like that type of motion. The weather was the worst it has been on any of our trips (mid 50′s and rainy), but we managed to have one of the best trips with the company of family and friends.
We pray for miracles every day and truly believe this past year with Jacob has been a miracle. We know the results of Batten are inevitable at this point, especially since we don’t know what form he has or what direction we should focus our efforts on research for a cure without that knowledge. However, we’ve been able to enjoy the past year with no noticeable decline and are thankful for every day we get to spend with him.
Thank you for everyone’s continued prayers and support. It means so much to us. We’re beginning planning for another Jacob’s Prayer event in August and will let everyone know when we have finalized the details.
Happy New Year!
It was a long 2009! Looking back over the year we see many ups and downs. In the big picture, the year proved to be very good for Jacob. We passed the one year mark of his diagnosis and with that, Jacob still remains to be above where he would be expected. He did have some progression. Not just stuff that we saw but tests showed changes as well. I think our biggest challenge has been his behavior. At times things have made me more emotional and I just broke down. It’s one thing knowing your child has a terminal illness but another thing is seeing how that affects your child. Watching him struggle and raise his frustrations is hard. It takes a toll on all of us. Our other kids have to live with this lifestyle and I have to say I am pretty proud at how they handle things sometimes. Other times, it wears on them too. We tried harder to make more time for the other kids and we will continue to do so this year. I think that makes a big difference with them.
The year gave us the opportunity to bring more awareness. We were able to get ourselves on the radio, in the newspaper (front page!) and on TV a few times. Doing that was not easy since I am not a public speaker and usually keep this stuff to myself. I had to set that aside and take the risk because I knew it could have the chance to help Jacob. We had a $2,000 check donated from an organization in Jacob’s name for research! We were amazed at the public response and overall, felt we were pretty successful in letting others know about Batten Disease. August came around and we had our first Jacob’s Prayer fundraiser! Our friend, Floriza, put a lof of work in and that too was a big success! We have had so many asking about another one so we have already been working on setting a date for a second!
We were so happy when the Bishop granted permission for Jacob to be Confirmed and receive his First Communion. It was a Blessed time and something we love seeing him take part in each and every time we attend Mass. Although he is not fully aware of everything, there is something there that he does seem to “get”. I can’t explain it but it is beautiful to see. God is so good!
In July, Jacob’s Birthmother came here to MI for a visit. It was her first visit here and it was a wonderful time. We were happy to share that time with Jacob with her. We are so Blessed that she chose us to be his parents and can never thank her enough! Another visit may be in the future! Just after she left, we headed to St. Louis for our first experience at the Batten Disease conference. It was a very emotional time to say the least but we are so glad we went. We got to meet so many wonderful families and lots of amazing kids! Although we knew what this disease does to children, that trip really opened our eyes and made it more reality. It did bring comfort knowing we have this “Batten family” to be with us on our journey. We are already planning on attending the next one in July!
Jacob started 1st grade and all day school! We were not sure how he was going to do but I think he is adjusting pretty well. We have had days where he said school was fun and if you knew Jacob, he never used to say that! I hope he continues to enjoy being at school! I miss him a lot but there are certainly days where I am glad he is there!
Jacob turned 7 in Nov. We are so thankful we have this time with him. We are trying hard to give him as many experiences we can since we don’t know when more changes will happen. Jacob is full of wishes and dreams. It’s tough knowing what is to come but when we take the time to do some of the things we have, it takes us to a different place where we can sit back and enjoy the time with Nick, Jacob, Sophia and Joshua. We will not take life for granted. It is too precious. We will continue to plan as much as we can.
This disease is brutal. It has taken the life of so many children and several in the last few months. A couple days ago, the little girl Allie that I had mentioned finally went to sleep and earned her wings. Only 12 years old! I followed her carepage and talked to her mom. She was physically suffering in unimaginable ways. How does one watch their child go through that? How do you pray that God will let your child be at peace knowing that means your child must die? I know our goal as parents is to have our children go to heaven but this way seems so unfair. I don’t like to use the word hate but I HATE this disease! I HATE knowing there is no cure! I HATE seeing my child slip away!
We still have a child who remains having unspecified Batten Disease. We went through all the testing and it still left us without an answer. We are working on what our next step is going to be. We continue to talk to researchers. We pray that 2010 will be the year that we not only find out what form Jacob has but find a cure! We can’t do this alone. We need to continue to bring awareness about Batten Disease. You can help us by letting others know about this! You can help by passing along Jacob’s website we are using to bring that awareness www.jacobsprayer.org We can’t give up on HOPE!
Thank you so much for all your support and prayers over the last year. We can’t imagine doing this without all of you! We are grateful to have so many wonderful caring people in our lives! Jacob is one very special boy! By the way, Jacob loves seeing messages left on the guestbook! If you get a chance drop him a quick note from time to time!
Wishing you all a Blessed 2010!
Chris
