Sunday, July 25, 2010

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

Friday, July 23, 2010

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.

Thursday, July 15, 2010

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.

Tuesday, July 13, 2010

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 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.

Monday, July 12, 2010

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 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.

Wednesday, July 7, 2010

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."


Thursday, July 1, 2010

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.