Monday, September 27, 2010

Cub Scouts

Ian started Cub Scouts. He has had 2 activities and has loved it as well as the other boys/families have been wonderful. Tomorrow night he will have his first pack meeting, where his den will be introduced to everyone. He is selling popcorn (Poptober as scouts calls it). 70% of all proceeds from this sale benefit local scouting. Below is the link to check out what they are selling.
Then click on
JPEG's and Descriptions
The following is what is available for Ian:
A = $50
B = $40
P = $30
C = $25
D = $25
Q = $25
E = $20
F = $20
G = $15
J = $15
S = $15
L = $10
Please note you can check out the following information if you would like.
Nutritional Information
Kosher Certification
Let me know if you are interested and I will get you down on his order sheet. If you have any questions let me know as well.

Ian says thank you….

Marci and Brian

Tuesday, September 21, 2010

September 21, 2010

This weekend was fair, we saw some progress in Ian, and tremors were not as bad. He was able to do a little bit of self feeding himself. Wanted to sit and play ball, one of his current favorite things to do in the house…sit on the floor and roll his little blue ball around. On Friday, I spoke with Dr. Raymond and we kept Ian’s medicine at 1.5 teaspoons for his morning does and 1 teaspoon for his other 3 doses. We did not restart the KUVAN. I spoke with Dr. Raymond yesterday morning, Monday, to let him know we saw a little bit of improvement over the weekend. Ian did some self feeding. He tried to walk holding my hands but was not able too, his feet were all over the place and you could tell how hard he was working to try to get them to move the right way. He was able to play balloon with one of our friends and could get his arms to hit it.

Late yesterday I received an email from his PT at school and she was pleased with his of his spirit and determination. She stated that she knows he always puts forth his greatest effort. She said he appeared much less fatigued and very "playful"/happy yesterday then he was last Thursday when she saw him. He was able to hold his head up well when he was sitting and he had improved trunk control in sitting in the wheelchair. We did attempt ambulation in the PT/OT room with my assist and then with the assist of the rolling walker, and both ways remained difficult for him. His knee extensors continue to remain weak, and his legs easily buckled on him when attempting to weight shift to bring a foot forward. We therefore worked a lot on sitting trunk control and head/neck control (while sitting on the large swing and lying on his tummy and propped on his elbows). We had fun while working very hard! He also sat in the bean bag chair on the floor (to provide some support) while reaching for and catching different balls. He was trying to assist with all of his functional care (putting his seat belt on/off and locking and unlocking the wheelchair brakes), which implies that his stamina is much greater than it had been last Thursday.

Slowly we are making gains but we do know that for every gain there is the potential of setbacks…one day and one step at a time.

Hope for tomorrow begins today.

Thursday, September 16, 2010

Going back to the beginning....maybe

Well the last few days, have been a little rough....we have been working with a compounding pharmacy in order to get his dose down in volume but remaining the same. That being said we started with the new compounding medicine on Friday night. For a few days before that Brian and I felt we were seeing a regression in his skills. Having a hard time walking again, holding his balance in the bathroom, fine motor skills to feed himself along with writing. On Monday, he started complaining of his eyes being blurry. Yesterday, Wednesday, I spoke with Dr. Raymond, after going over everything with him, he discontinued his KUVAN (this is the BH4 supplement we started a few weeks ago) and increased his morning dose of sinemet from 1 teaspoon to 1 1/2 teaspoons. We stopped the KUVAN last night (Wednesday) and increased the sinemet this morning (Thursday). We are to touch base with him tomorrow (Friday) morning.

Tonight at dinner, he had to lean on me in order to hold himself up, in addition to his arm/hands being all over the place and having a hard time feeding himself. However, to give him kudos, he did not want my help and did manage to feed himself all of his dinner. One of the hardest parts of the whole thing is Ian knows what is going on...he does not want help and wants to do it on his own...if only his brain and his body would work together to do step at a time...we will get there....

My hope for the new year is we continue to find answers, whatever they are and move forward where ever that may take us.

Friday, September 10, 2010


The cat sat. The cat sat at the mat. The bat sat. The bat sat at the mat. The cat, the bat, the mat- sat, sat, sat. I was not able to upload the video, here's what he read and a picture of it... What a great way to start off the year...

Monday, September 6, 2010

Getting Caught Up to Today

Ian started a new school the fall of 2009, he was walking fair, not wonderful. I had informed his teacher and therapists of his summer illness. Within the first few weeks, his teacher and physical therapist began counting how many times he was falling in a day…he was averaging 10 times a day. This became a safety issue for him. So they approached Brian and I regarding Ian starting to use a walker. It was not something we were thrilled with but we needed to give it a try. Ian did wonderful with the walker, “Wally”. Yes, Ian named it. He was speed racer with it, got around great. We even purchased one for home. Ian was doing well in school, seemed to be doing well over all. Then comes December 2009, Ian had another episode. We did not end up in the hospital this time, all of his symptoms were the same. We did go to the ER per his pediatrician. There was nothing they were able to do but the pediatrician wanted to make sure there was nothing else going on. Since Ian had a second episode it confirmed for Brian and I that this was not a viral infection over the summer We knew there was something else going on with Ian and, for those of you who know me…I was going to figure it out. My gut told me the diagnosis of a viral infection was not correct in July but unless it happened again there was nothing we could do since all the tests Ian had ever had done during his life were normal.

I am extremely fortunate to have a cousin, Dr. Kaplan, who is a pediatric geneticist…she has know Ian since he was born. She was one of the few who were able to visit him in the NICU at University of Maryland. I had never turned to her before but in December with the second episode I decided it was time for a new pair of eyes, just to see…she came over on a Sunday to take a look at my huge white binder of medical records I have collected over the years. Julie (Dr. Kaplan) contact her associate, Dr. Carol Greene, from University of Maryland, went over some things with her…the next day Ian, my mother and I, went down to meet Julie at the lab at University of Maryland. Dr. Greene drew some blood, Ian gave a urine sample, all I knew at the point was whatever she was looking for was rare, I did not want to know more then that, not if they were good or bad. Knowing myself, I would be all over the Internet searching for everything and anything, not always a good thing.

Approximately 2 weeks later, Julie called one night. Most of the results were in, the biggest one being the prolactin level, Ian’s was abnormal. Everything else was normal, having an abnormal prolactin level was wonderful but scared news…Brian and I did not know what it meant or where it would lead us but it was the first test in 7 years to come back abnormal. Finally, we may get some answers. Julie proceeded to explain to us, this could be due to a dopamine deficiency or another form of a neurotransmitter deficiency. Getting these results back could not have come at a better time; Ian had an appointment with Dr. Gerald Raymond, his neuro-geneticist, the next day. I gave Julie all of his information so she could be in touch with him before our appointment the next day. Seeing Dr. Raymond, lead to more blood and urine tests. The blood was to check Ian’s prolactin level when he was not having an episode. The urine was the next test to be done for neurotransmitter diseases, this test needed to be shipped to a lab in Atlanta. Ian’s prolactin level came back elevated however not as elevated as when it was done the first time. Unfortunately his urine test came back normal. This did not mean there was not a neurotransmitter disease, it just meant we had more tests to undergo.

The next test to be conducted…a spinal tap and MRI. This was not a fun day for any of us…first thing in the morning we needed to be at Johns Hopkins Hospital for Ian to have a picture taken of his head. That is all we told him he was having done, there was no need to tell him about the spinal tap. We knew when we left that the MRI was normal. The spinal tap had to be shipped away to Atlanta. There are not many labs which can conduct the tests which need to be done for pediatric neurotransmitter diseases. The one we have been using is run by Dr. Keith Hyland. Everything must be done a specific way in order for the tests to be run. We are now into March, Dr. Raymond called with the results, it was suspected that Ian had Tyrosine Hydroxylase (TH) deficiency. Based on this, Dr. Raymond stated Ian on Sinemet. We went through some rough weeks working through Ian’s adjustment to the medicine. In addition, based on the spinal tap results, Ian had more blood drawn, this again was sent to the lab in Atlanta in order for to confirm the suspected diagnosis. This needed to be done through a gene analysis which took five months to conduct. We are now into the summer, July actually when we find out that Ian does NOT have TH. This was a shock to us, we thought we had our answer. What we did know, Ian does have a neurotransmitter disease in the dopamine pathway.

Some where between Ian having the spinal tap and him starting on Sinemet; Ian became 100% dependent care. He was no longer walking, unable to hold his balance to use the bathroom or stand in the shower. Had trouble feeding himself. We were watching our sweet boy fade away with all of his motor skills. The one thing Ian did not lose during this whole process was his cognitive abilities, he knew what was going on...that was also hard. Watching him try to do something and then start to yell at his legs because they would not work...he knew he was able to do things before that he was not able to do anymore. How do you help your child? We just kept our spirits up as best as we could, especially around Ian and Becca. We were going to find out what was going on regardless of how long or what it took.

So we knew we were not looking at one of the pathways containing tyrosine. Dr. Raymond was not shocked regarding this result. He was not convinced based on some of Ian’s characteristics Ian had TH. He felt based on some of his characteristics he could have Sepiapterin Reductase (SR) deficiency. We are now 6 weeks into the gene testing for SR.

Thursday, September 2, 2010

A Long Over Due Update

I wanted to let everyone know I have been thinking of posting and want to be updating it on a regular basis, however, there just does not seem to be enough time in the day for me to get it all done.

The kids have started school and seem to be adjusting well to being back. Ian has moved back to Chatsworth (where Becca is and where he was 2 years ago) do to Franklin not having AC. He is in the same program he would have been in at Franklin (ALS = Adaptive Learning Support). Becca is happy to have Ian back at school with her, when we told her she cried...happy tears.

We have started Ian on another medicine on top of his Sinemet , yet it is still too soon to know if it will do anything. We do know that his Sinemet dose needs to be adjusted but are waiting due to the new medicine. So we wait.

We have been notified that Ian's wish to meet Spiderman has been granted. We know we will be going to Orlando however dates are still to be determined. Ian has been telling people he is going to meet Spiderman and learn how to shoot webs...

I do feel I am forgetting things to be updating but at this point and time, I will leave it with this and hope to update again very soon.