Happy New Year to All

We want to wish everyone a very happy and healthy new year. May 2011 be a wonderful year.

Dreams do come true....Spiderman

Thanksgiving has come and gone and so has Ian's wish to meet Spiderman. Over Thanksgiving week, Ian's wish was granted....and what a wonderful week it was. Give Kids the World Village was our home for the week. Arriving at the Village was amazing. We were greeted my more volunteers. The kids were given a stuffed Mickey Mouse, which was just the beginning of the gifts they would be given. Each day a new gift would appear in our villa. The villas were amazing, 2 bedrooms, 2 bathrooms, a kitchen, and a living room. The kids room and bathroom were bigger and better then the adults. After all the village is for the kids. The first day, we just hung out at the village, went to Matthew's Boundless Playground...completely handicap accessible and designed as a Candyland board. We were given 3 day hopper passes to Walt Disney World, 2 day hopper passes to Universal Studio/Island of Adventures and a day pass to Sea World. Every day at the village was a special day from character meet and greets to horseback riding to Christmas. There is an Ice Cream Palace which is open from 7:30am till 9:30pm...yes the kids did have ice cream for breakfast. One morning Becca even had a banana split.

Being at the parks was incredible, Ian was given a button, which he had to wear it everyday along with Brian and I being given a badge to wear every day as well. Between Ian's button and our badge, we never had to wait for a thing. From rides to meeting characters, all we had to do was go to the exit and show them either one and up to the front of the line we went. Staff members would see the button on Ian and stop to talk with him and Becca. 

Our Spiderman day, Wednesday, topped it all. When we arrived at Islands of Adventure, we went to the Spiderman ride. We had some time so Brian and Becca went on it, Becca was the ride girl, she loved them all. Spiderman and 5 other super heroes have a show 4-5 times a day. They come out on ATV's,waving to the crowd. After the ride, they do a public meet and greet for about 15 minutes. During this time, the 4 of us were escorted to the spot for our private meet and greet, not only Spiderman but the other 5 super heroes as well. Ian could not wait, Becca was pacing back and forth and reporting back to Ian if she saw them coming or not....well the smile on his face once she reported they were coming was just the beginning of the priceless experience. To this day, I am still not sure I remember it all. They came riding back on their ATV's waving at Ian....Spiderman was the last one to arrive...once he was off of his ATV, he did not leave Ian's side. He was down at Ian's level, talking to him, signing his autograph book, his "spiderman" AFO's as well as his stuffed Spiderman we had purchased just for this occasion. The 15 minutes seemed to stand still while at the same time it flew bye...Ian still talks about it. In fact once we were home, we were visiting my parents and Ian was telling them about it...he looks at my father and said: Pop, I just realized that it was Peter Parker in that spiderman suit."

For Becca, the best part of the trip was meeting all the princesses and the fairies. Oh and all the rides. She also enjoyed the swimming and everything that came along with the whole wish trip.

The rest of the trip was incredible...every Thursday at the village is Christmas...yes we did participate. Everyone was there, from Mrs. Claus to Santa Claus to the Christmas Princess. They even made is snow. Another special thing they do for the kids, each wish child is given a star. After the wish child writes on their star and it is placed on the ceiling of the Castle of Miracles, a letter appears in the villa letting the family know the location of the star. It was incredible to see his star on the ceiling along with all of the other wish children who have come before him....their starts will be on the ceiling until the building comes down. Anytime we go back for a visit, Ian's star will be one of the many things we visit. Yes the tears came when we saw it.

I could continue to go on about our wish trip; while the wish is for the child, it is for the family...we were all made to feel special. There are not enough words to thank Make a Wish and Give Kids the World for all of the wonderful work they do....I know our family will always have a very special place in our hearts for them and will go out of our way to do for them as they did for us....
http://midatlantic.wish.org/
http://www.gktw.org/aboutUs.asp?a=1

Finally....

Well I spoke with Dr. Raymond earlier in the week…Ian’s prolactin level is finally in the normal range. It was 7.8 and the range is 3 – 14.7. We are not really sure what that means, will just have to wait and see…given this information Dr. Raymond has decided to keep Ian’s medicines the way they are to see how things ride out. Ian’s movements have calmed themselves down a little bit this week. The other day in school he was able to write and he was so proud of himself…called over his teacher because he just had to show her what he did…before this he had not been able to write due to his movements in a while. We do know that he is going to have more bad days as he has had over the past few weeks…we have had some rough nights with him this week as well. Ian had started to verbalize his frustration with everything that is going on…it has been heart breaking…we have told him that he is special, G-d would not have made him the way he is, if he did not think he could handle it…Becca was there, we pulled her in and said actually we are all special because G-d would not have given us Ian if we could not handle it. Sometimes I believe that while other times it’s hard. Becca then decided it was time for a family hug and kiss…xoxoxo.


In addition, when talking with Dr. Raymond earlier this week, he decided to skip the MD’s in DC and send us Utah. He is going to work on getting all the paperwork together, send it and go from there.

Where we are headed...

The past few weeks have proven to have their highs and lows. Ian has been doing a great job with scouts. He loves it and enjoys spending time with Brian. They have done things around the house for him towards earning his badges or belt buckles. There are some family things coming up which we will be attending. Becca has joined Brownies, so we have been busy with that. There are numerous families which cross over like we do.

Ian is thriving in school. Learning to read, spell and add. At times he does get frustrated with his homework but we slow it down some and then he gets it. We were in the car coming home yesterday and you hear him spelling some of his words…is…i and s, did…something, i and d. Last year, he started to learn keyboarding as an additional means of doing his work. Well given his recent uncontrollable movements, keyboarding has become his main form of doing his work. He does still ask to write, however, it is scribble and unreadable.

About a month ago, Brian and I, among others noticed Ian was having tremors. Well what we would call tremors, at that time I was describing them to people as Parkinson’s like tremors. After seeing Dr. Raymond last week, and he saw the tremors, he told us it is actually choreoathetosis. Taken from WeMove Worldwide Education and Awareness for Movement Disorders;

Chorea is an irregular, rapid, uncontrolled, involuntary, excessive movement that seems to flow randomly from one part of the body to another. The affected child often appears fidgety or restless and unable to sit still. The word "chorea" comes from the Greek word for dance. The jerky movements of the feet or hands are often similar to dancing or piano playing. When chorea is severe, the movements may cause flailing motions of the arms or legs that results in throwing whatever is in the hand or falling to the ground. This form of severe chorea is referred to as "ballism." Walking may become bizarre, with inserted excessive postures and leg movements. Unlike parkinsonism, which is an inability to make voluntary movements, or ataxia and dystonia, which affect the quality of voluntary movements, the movements of chorea and ballism occur by themselves, without conscious attempts at movement. In some cases, attempts to move may make the symptoms worse. Athetosis is a slower writhing and twisting movement. Choreoathetosis is a movement of intermediate speed, between the quick, flitting movements of chorea and the slower, writhing movements of athetosis. Choreoathetosis is the most common form in children. Choreoathetosis tends to worsen with attempts at movement and often occurs only while the child is attempting to move. It therefore shares features with dystonia; it is not clear whether or not choreoathetosis may be a form of "hyperkinetic" dystonia, in which there is too much movement due to involuntary overflow of activity into muscles the child was not intending to activate. It is possible that some children with choreoathetosis have symptoms of both chorea and dystonia, but finding the best method to sort this out in any particular child will require future scientific research.

When we first told Dr. Raymond about the tremors…he started Ian on zonisamide. The first week he was one it the movements were much better. So we increased for the second week and the movements became significantly worse. We did not even wait for the full week to come and go before calling Dr. Raymond. It was decided to stop the zonisamide for a few days to see what would happen. The movements got a little bit better but he was still having them so once the medicine was out of his system for a few days we started him back up on one pill again. This would be Sunday, October 10th when we restarted it. It has been a week since he has been on this dose and we are not really seeing any improvements. There are nights when he can’t even sit in the chair for dinner without moving all over the place. So I have a call into Dr. Raymond to update him on this.
On Wednesday, October 13th we went to see Dr. Raymond. He had received the most recent results we were waiting for on the Seriaptein Reductase (SR) deficiency…and to no such surprise they were normal. So where does this leave us….it leaves us still looking for answers. What we do know is that Ian has an elevated prolactin level which indicates a dopamine deficiency, abnormal spinal fluid results also indicating a dopamine deficiency, and a response to L-Dopa/Carba-Dopa (sinement). At this point, Dr. Raymond is contacting another MD in DC along with some MD's in Utah to see what their thoughts are. I also asked him if he has spoken with Dr. Hyland recently since all of the results have come back normal, he said he has not and he would be in touch base with him as well. It was also brought to my attention about a program at NIH, the
Undiagnosed Diseases Program. I mentioned this to Dr. Raymond, he told me to send him what needed to be done and he would work on it...so one never knows.

As always, we are taking it one day at a time and making sure Ian knows how loved and special he is.

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.

http://www.campmasters.org/products.aspx
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

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.

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 so....one 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.

Reading

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...

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.

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.

Steps

I was finishing up getting the kids ready for camp this morning,

Mom to Ian: "You are going to sit and slide down the steps."
Ian back to Mom: "I walk down them?"
Mom to Ian: "You want to walk down the steps?"
Ian to Mom: "Yes."

Over to the steps we went. Ian to Mom: "I am scared." Mom to Ian: "I know, how about we just walk down a few and then you sit and slide?" Ian to Mom: "No I walk down all of them." Mom to Ian: "Ok."

We got down about 4 steps and Ian and I decided it was time to sit and slide. He did okay, I did okay but we both decided that 4 steps were enough. We will continue to walk down the steps, but for Ian to initiate wanting to do it was wonderful.

More to come.

Sorority Reunion

This weekend the kids and I went to NJ for a sorority reunion. It was a wonderful weekend. The kids were fabulous in the car, Becca helped me giving Ian things while I was driving, she also opened his water bottle…things that either Brian or I would have done if we were all 4 together. We had a great time. Both kids swam like I have never seen them swim before. Becca was all over the pool, jumping off of the diving board and swimming to the wall, sometimes even to the other end of the pool. Ian was able to stand in the shallow end of the pool. When Ian was younger, he took swim lessons. It was more for the therapeutic purposes then the actual lessons. Unlike other therapeutic methods, swimming can actually be safe because there is no possibility of hurting one’s self by falling down. The warmth of a heated swim area can also provide relief from muscle stiffness or pain. Water provides buoyancy as well, which alleviates the stress on the body that gravity causes. Swim exercise and movements can help in building muscle strength. That being said, Ian was walking in the water, it was amazing to see. Not only was he walking, he was doing it independently. He would yell at me if I sent to get his hands for anything…”I can do it, I don’t need your help.” And let me tell you, I got yelled at quite a few times. He would walk around me in circles. He even wanted to go to the diving board and jump in…well that did not happen, I was not comfortable with that at all. Both kids had a great time as well as I did. My sorority sisters and their families were wonderful, thank you all for the help you gave me. All my love, let’s not let so many years go bye before we do it again…any time you want to come to Baltimore, let me know…xoxo

What a Week

The beginning of the week the Make a Wish wish granters came. Kim and Tracy we fabulous; they asked a ton of questions, wanted to know some of Ian's favorites, color, movie, book, music, food...then they went onto play the wish game. If you could go anywhere..., if you could meet anyone..., if you could have anything...., and if you could be anyone.... As a family we had been playing the wish game over the past few weeks so it would not be as much of a struggle with him when it came to this. His 1st wish is to meet Spiderman, 2nd is to go on a Disney cruise, and 3rd is to be a firefighter. Our wish granters told us they do their best to make the 1st wish come true. The next steps are for Dr. Raymond to approve travel and the Make a Wish foundation board to approve for funds and liability issues. So now we wait to find out what has been approved. Kim and Trish talked with Brian and me filling us in on some other things. They wanted to know if we had luggage, a camera, and car insurance. They will rent us a car. In addition, they check to see if we needed any medical equipment…nope just a fridge for medicine. They check to find dates which are good for us to travel and to see if Ian gets any kind of treatment that would prevent us from traveling at a certain time. It is truly amazing how they do it all.

Yesterday, I received a call from Dr. Raymond’s nurse to let me know the gene analysis results were in … and the results are…NORMAL. So what does this mean…he does not have Tyrosine Hydroxylase Deficiency, even though the spinal fluid indicated the possibility? Brian and I had a conference call with Dr. Raymond a few hours after we heard from the nurse. We had numerous questions, most of which he did not know the answers to. The plan of action, he would like to run another gene analysis Sepiapterin Reductase. This is another dopamine neurotransmitter disease. Dr. Raymond feels Ian has some characteristics of this, even some which are not characteristics of Tyrosine Hydroxylase. Today he spoke with the doctors in Atlanta (the lab where all of Ian’s test are being done); they have enough DNA to start it so Ian won't have to get stuck again. In addition, there is a chance Ian will be started on other meds; we will not be stopping what he is on as he is making progress on it. Dr. Raymond did say based on the results from the spinal tap; Ian has a neurotransmitter disease it is just a matter of finding out which one. Feel free to ask questions what ever we are looking at it is rare...

While taking a bath, he is able to pull the plug…which he was able to before his set-backs in July and December. He continues to get stronger each day, walking with his walker more, sitting and sliding around the house as well as sliding down the steps. Self-feeding as gotten better, his OT from Mt. Washington has given us an adaptive spoon which has made Ian more independent with spoon foods.

An Exciting Day

Ian had a follow-up appointment with the neuro-geneticist yesterday. It went well. Unfortunately, his gene tests are still not back, even though they told me August, I was hoping they would be back. So when those results come in, the doctor will call. We went over the medicine and dosage...Ian is being increased from 3 times a day to 4 times a day. The 4th dose is only ½ of what the other doses are; however, in 2 – 3 weeks that dose will increase to the same amount as the other 3. This is just going to mean a stricter medicine schedule. Ian was very excited to tell the Dr. Raymond that he is brushing his teeth on his own. Dr. Raymond was very happy about that and stated every little thing is a step in the right direction.

After we left Hopkins, Ian had his baseball banquet. To say his face was priceless would not even do it justice. The smile was from ear to ear…as well as the smile on Becca’s face as she got to wheel him up…the evening was a priceless moment.

I was playing on the computer with Becca and Brian called me to come upstairs where he was giving Ian his shower. I start to walk up the steps, what did I see…Ian washing his hair…it was priceless. When he came downstairs afterwards, Ian looked at me and said, “Mommy, I washed my own hair…all by myself.” The tears started to roll.

Our Journey Continues July 4th, 2009

July 4th, 2009 came along…the kids are 6 years old. Ian started off the beginning of July with an ear infection, his balance gets off, he does not eat; ear infections have always hit right where it counts…balance and weight. Both have always been a struggle with Ian so when we start to see this happening, the doctor gets a call right away. Ian was on antibiotics for 2 or 3 days, in the beginning of the medicine cycle he seemed to be getting better, then on day 3 he came home from camp and was all over the place. He could not hold himself up in a sitting position at the table, could not stand with or without his shoes and braces, could not bring a cup to his mouth to take a drink…those are just a few things…basically he could do nothing. I called the ENT, who informed me if Ian was not acting like himself I should go to the ER…well it did not take me long to get everything together and head out for GBMC pediatric ER. Brian stayed home with Becca and my parents met me at the ER. The doctor took a look in Ian’s ears and said that the medicine was working, it did not look like he had an ear infection…well that just did not sit right with me…why was Ian having all these other issues. I was expecting to go to the ER, the doctor to look in his ears and the antibiotic to be changed and then go home. Well that did not happen instead the ER doctors seemed a little bit confused as to what was going on. They ran blood and urine…everything was negative. They called the neurologists at Johns Hopkins Hospital since that is where Ian’s neuro-genetics is. The on-call neurologists wanted to have a head MRI completed; Ian would need to be put to sleep. GBMC did not have the staff to do this; they did not have a pediatric anesthesiologist…so we had to wait to be transferred to Hopkins. By the time everything was in order, we could not be transferred to Hopkins, since Ian needed to be put to sleep he would have to be admitted to the PICU; Hopkins no longer had any PICU beds available. GMBC began making other calls looking for a bed; they hit a home run with Sinai’s PICU. However, we were now late into the night…I would say easily after midnight, it was decided Ian and I would sleep in the ER and be transferred in the morning. So my parents went home, Brian was getting all of this information over the phone and was making plans for Becca for the next day so he could meet us at Sinai in the morning. I don’t know what time we finally got to Sinai in the morning or how much sleep Ian or I got but we eventually got there, got admitted to the PICU and the wait began for the MRI. I don’t remember the order everything happened in but over the next 3 days the following took place: MRI of head and spine, EEG; numerous blood and urine tests, and IV antibiotic as it turned out Ian did have an ear infection. He was off of the antibiotic for a little bit due to being in the ER, all it needed as that time frame to show its ugly head. Ian was give a high does of IV antibiotic and we moved onto everything else. All of the other tests came back negative. At this point, Ian was starting to make some progress for the better, he was getting some of his balance back, able to hold a cup…pretty much slowly getting his motor skills back. So Ian was discharged from the hospital with the diagnosis of ataxia (according to wikipedia.org is a neurological sign and symptom that consists of gross lack of coordination of muscle movements). Brian and I believed there was more going on then just ataxia, however since all of his tests came back negative, we had nothing else to go on unless he had another episode. Ian never regained all of his strength back. Before this episode he was approximately 80% independent. After the episode, he was unable to walk up and down steps on his own; he would sit and slide down then but would not walk or crawl up them at all. He finished out the summer at camp and we got him ready for school.

Brushing Teeth

One does not realize how much effort it takes to accomplish the little activities of daily living...last night and this morning Ian brushed his own teeth. He was extremely proud of himself...so much so that when he was done last night, he called Brian into the bathroom to tell him. Ian had not wiped off his face yet. he said "Daddy, I brushed my own teeth!". Brian responded, "You sure did, even got your nose." Then Ian looked in the mirror and said opps as he cleaned off his face.

I am working on more of our story and hope to have it posted this week.

Hope everyone is have a great summer and staying cool when needed.

The Sibling Bond

The kids and I were in the car this morning driving to catch the camp bus. Becca asked me if I remembered when we were at Chizuk Amuno and walked to lots of houses. I told her I did and that it was for Sukkot. She asked if we were going to do it again, told her I did not know it was still a far way off and we would have to see. She said that we would all walk but Ian would be in his stroller, while she was saying this you could tell she was looking at him. Then you heard this little sigh come from Ian. Becca looked at him and said "It does not matter if your not ready too walk all of it, it only matters that you do it for happiness."

:-)

It's been a year

Where has the year gone. It is hard to believe July 4th weekend started another part of our journey, which started when the kids were born. This year has changed our lives in ways that most never go through, all the medical tests, all the hopes and dreams, watching Ian go from being fairly independent to completely dependent, the unknown, getting the phone call with the spinal tap results, starting medicine...watching the 1st happen all over again.

This morning brought about another 1st, Ian was able to get his socks off by himself. To most that would be nothing but to Ian, it was hard work; getting his hands and fingers to work the right way. Along with getting his legs in the right position to get the socks off. He worked very hard to accomplish this along with all the hard work he has done over the past few months and all the hard work he has ahead of him...thank you to Ian and Becca for helping Brian and I to put things in perspective and for the most part keeping them that way. We love them both with all our hearts...there are not enough words to express just how much.

Make-A-Wish

When I have shared with some that Ian has qualified for Make-A-Wish, I get very strange looks along with: "I don't know how to ask this but isn't that for kids with terminal illnesses?" Well the answer is NO. According to the Make-A-Wish website:
Many of the children who qualify for a wish go on to lead healthy lives. We grant the wishes of medically eligible children (i.e. those diagnosed with life-threatening medical conditions - i.e., a progressive, degenerative or malignant condition that has placed the child's life in jeopardy.)
Most wish requests fall into four major categories:
• I wish to go
Some wish kids want to travel to their favorite theme park, while others want to visit an exotic beach, go on a cruise, see snow for the first time, or attend a major sporting event or concert.
• I wish to be
Children search the depths of their imagination when they wish to be someone for a day – a firefighter, a police officer or a model.
• I wish to meet
Many want to meet their favorite athlete, recording artist, television personality, movie star, politician or public figure.
• I wish to have
Children often wish for a special gift, like a computer, a tree house, a shopping spree or something that they have coveted for a long time.

Our Journey Continues

Our journey continued with Becca and Ian each spending week in the NICU and on May 10, 2003 and May 11, 2003 when Becca and Ian, respectively came home from the hospital. We knew Ian had microcephaly, an abnormally small head, everything else seemed okay. Ian qualified for infants and toddlers from birth due to his traumatic entrance into the world. As he continued to grow, we started to see some other developments. He was having difficulty feeding; we could usually get him to drink but most of the time he would spit up. He had hypotonia — low muscle tone when muscles are on the loose, floppy side. Although hypotonia is not a well-understood phenomenon, children with low muscle tone often have delayed motor skills, muscle weakness, and / or coordination problems (from babycenter). During this time, we were living in Howard County and his pediatrician was wonderful, he was running numerous tests as well as consulting specialists to see if they had any insight on what was going on with Ian. We had seen many doctors during this time as well…pediatrician, endocrinologist, gastroenterologist and feeding disorders, orthopedists, pediatric neurologist and physiatrist. Some of these specialists we had gone to see more then one for second opinions. All of his doctors were/are either at Johns Hopkins, Kennedy Krieger or Mt. Washington Pediatric Hospital. In addition, Ian had a sleep study conducted as he was not sleeping through the night until he was 18-19 months old.

We always get the doctors notes sent to us, around the age of 2 ½, we received one which we found alarming. It was the first time we had seen written in words and told to us that Ian had diplegic {paralysis of corresponding parts (as the legs) on both sides of the body} cerebral palsy. Brian and I struggled with this diagnosis for many months, deep down we just did not think he had CP. There is a developmental pediatrician at Johns Hopkins/Kennedy Krieger who specializes in CP among other diseases; we decided to see him for a 2nd opinion. We were told that Ian was on the fine line of having CP, it could go either way and he could see where some would say he did have it while other would say he did not. One comment I distinctly remember is “Ian can do things that CP kids can’t do.” Looking back maybe I should have taken that comment differently then I did…don’t know what I would have done with it but…anyway. The MD said he would support us in our decision. We decided it could help Ian to have CP…medically issues as well as academic issues. So at the age of 3, Ian was diagnosed as having CP with unknown origin. He was getting physical therapy, occupational therapy, speech therapy as well as a resource teacher. He was making gains, I am not sure at what point and time I can say we started to see him plateaued or even digress…I do know looking back over the years it was a slow digression until July 4th weekend of 2009. Before this weekend, he was getting around well, could walk in the house without his AFO’s (ankle-foot orthoses (orthosis = brace). AFO’s are usually plastic encompassing the ankle joint and all or part of the foot. They are commonly used in the treatment of disorders that affect muscle function such as stroke, spinal cord injury, muscular dystrophy, cerebral palsy, polio, multiple sclerosis and peripheral neuropathy. AFOs can be used to provide support to weak or wasted limbs or to position a limb with tight, contracted muscles into a more normal position. Below is what they can look like, obviously not Ian as they are pink and we know pink is not his color…that would be blue (from http://www.pediatric-orthopedics.com and http://en.wikipedia.org/wiki/Ankle-foot_orthosis). Ian could get up and down the steps on his own, was not always the most elegant way but that is okay. He was able to get in and out of his bed on his own, could not completely dress himself but could assist us. I would say he was fairly independent. Then came July 4th weekend 2009.

Day One of Camp

Well yesterday was day one for Camp Milldale and both kids did wonderful. Being who I am, around 1:30 I called camp to check on Ian, see how he did with his medicine as well as how he was holding up in the heat. I spoke with Mindy, one of the camp nurses, she said he did great. He told her how much medicine to put into each syringe, exactly how to put the syringe into his mouth as well as when each syringe was completed. Then to make sure he took care of everything Ian told Mindy "Make sure you put the rest of the medicine back in the bottle and back into the fridge."

More of our story to follow soon.

Make-a-Wish

I am still in shock...about a month ago, I applied to see if Ian would qualify for Make-a-Wish. It starts off with my applying for him and then paperwork has to go off to the MD to see if he is eligible...well finally I got a call. Ian is indeed eligible since his disease is progressive. I had not shared this with a soul, not even Brian...well now he knows. Our next step is to get a letter from Make-a-Wish, welcoming Ian to the program and who our wish team will be to help make his wish happen. Now Brian and I need to start playing the "wishing" game with Ian...so when the wish team come out he has an idea of what his wish will be...one never knows with Ian, just what his wish will be. Stay tuned to see what happens as this unfolds.

UPDATE June 13, 2010

It has been a good week. Ian "graduated" from Kindergarten and will be moving to 1st grade at Franklin Elem School. We took Becca out of school early so she could come and see Ian's graduation.

I spoke with Dr. Raymond's nurse to get a status update on Ian's genetic tests...the last part of the testing was started on May 11th and it will be 12 weeks from there before we get results.

This weekend we went swimming and both kids did great. They both remembered most of what they did last year. Ian did great with kicking, what a great workout that was for him. He had his last baseball game and had a great hit. Tonight, we spent some time doing some school work with the kids. Brian had Becca and I had Ian. The B's read while I went over some counting and writing with Ian. It is amazing how far they both have come.

HOW IT STARTED

Our story began in April 2003, when Becca and Ian were born. They were born at 34 wks and 5 days. Beautiful, Brian and I were in love. From the beginning, Becca was a grow and feed...she was in the NICU but just to learn to breath right and eat well. Overall, doing well. From the beginning, Ian had trouble. He was not breathing on his own unless he took a deep breath to cry. He was fighting for his life. The first hours were not good, even though I was drugged and really don't know most of what happened, what I do remember/know...oh just not good. I remember being in the recovery room, Brian by my side and the phone ringing. He said, "Ok, I will be right there." He told me he needed to go to the NICU, I was aware both babies were there so I was not surprised he needed to go. Not sure how long Brian was gone, but I do recall him walking back into my recovery room…the look on his face, not something I want to ever see again. I remember looking at him and asking “Which one did not make it?” He came over to me and said, “Oh no, they are both still with us, however, Ian is very, very sick.” At that point I really don’t remember much, the pain meds knocked me out and I was asleep again. Not sure if that was good or bad, was not there to help and make decisions but at the same time was not there to help and make decisions. Next, I remember Brian by my side again waking me up. He said it was time for them to take me into the NICU so I could see the kids. They were going to be moving Ian to University of Maryland Hospital NICU so he could get the care he needed. Howard County General Hospital could not do for him what he needed. Brian told me, Ian was not breathing on his own, they were breathing for him. The doctors had tried to put in a chest tube; were not able to get it in and his lung had collapsed there fore he was being bagged in order to breath. I still remember going over to see Ian in the NICU all the doctors and nurses around him…trying to work on him but staying out of the way so I could see him before he was transferred. Then it was onto see Becca, such a different sight. There was one nurse with her, reminding her to breath every once in a while. She only had a few tubes attached to her…

After 8 hours of life, Ian was transferred to University of Maryland and I was moved from recovery back to my room on the maternal child unit. I had been in the hospital for 5 weeks prior to delivery on bed rest so my room was saved and I knew the nurses. My mom went with Brian to U of M and my father stayed with me. The only thing I remember from that night is my girlfriend from college calling to tell me she had just come home from the hospital after having her son. I told her about the babies and that Brian was in Las Vegas. Oh I must have still been drugged up. We still get a laugh at that one. We had some ups and downs in the NICU’s for both kids, however, I must say they both did well. Brian and I, along with the grandparents, made sure that both kids had a least one of us there for a good part of each day…remember they were in 2 different hospitals, for two weeks. After two weeks of going back and forth between U of M and Howard, Ian was doing well enough to be transferred back to Howard with Becca.

Ian and Becca together for the 1st time since birth.

Ian took a few steps today, unassisted, Becca's face was priceless as she screamed for me to come and take a look...:-)

Cerebral Palsy vs Pediatric Neurotransmitter Disease

According to NIH
The term cerebral palsy refers to any one of a number of neurological disorders that appear in infancy or early childhood and permanently affect body movement and muscle coordination but don’t worsen over time. Even though cerebral palsy affects muscle movement, it isn’t caused by problems in the muscles or nerves. It is caused by abnormalities in parts of the brain that control muscle movements. The majority of children with cerebral palsy are born with it, although it may not be detected until months or years later. The early signs of cerebral palsy usually appear before a child reaches 3 years of age. The most common are a lack of muscle coordination when performing voluntary movements (ataxia); stiff or tight muscles and exaggerated reflexes (spasticity); walking with one foot or leg dragging; walking on the toes, a crouched gait, or a “scissored” gait; and muscle tone that is either too stiff or too floppy.

According to PND Association
“Pediatric Neurotransmitter Disease” is an umbrella term for genetic disorders that affect the synthesis, metabolism and catabolism of neurotransmitters in children. These inborn errors of metabolism affect the central nervous system in children and if left untreated can lead to severely compromised neurological function. The symptoms of some pediatric neurotransmitter diseases can be completely treated whereas in other pediatric neurotransmitter diseases treatment can sometimes improve quality of life. Characteristic features of Dopamine/Serotonin Related Diseases include:
dystonia or tremor
hypotonia or rigidity
diurnal variation of movement disorder
expressive speech delay
oculogyric crises (upward fixed gaze)
excessive sweating
temperature instability
hypoglycemia
sleep disturbance
irritability.

As my posts continue, I will notice things which I have not noticed before. How looking back on Ian over the years, he was worsening over time. How some of the characteristics of pediatric neurotransmitter diseases, he had however not being aware of them, I was not aware.

I have been doing some thinking on the best way to start the blog as having a history is needed….I am going to do a brief history and then go back and detail the things which over time I have realized were important although at the time I may not have realized were. So before I even get started I want to apologize if at times it seems as if I am all over the place. So please bare with me as I get myself up and running and learn more about blogging as well as retelling our story.

Getting Started

I was at Becca's end of the school year picnic today and another mother asked "how is Ian?" I started to inform her, the response I got "Are you blogging or writing in a journal about this?" "No" I said. "Why not she asked? It would be wonderful for you to do so, others will know what is going on and that way maybe others can learn from your story." So here I am...it may take me a while to get up and running but I am going to do it...stay tuned.