Jen's Journey and CDKL5

Goodbye June, Let's hope for a great July

2009-07-03T08:50:00.002-04:00

Well, Jen has had alot going on this past month. We have been back to GI a few times. Her feedings are going o.k., but the healing of the site is still an issue. The past couple weeks she has had GI issues, and hasn't been feeling herself. Other long awaited appointments needed to be cancelled due to it all. A telltale sign of her not feeling good is she is very quiet, not real vocal and seizures will be down.
The only benefit, her seizures are down. Hoping she will wake up this morning feeling great and looking to eat something. I need to reschedule the few missed appointments,and get back on track.
Welcome JULY!! Summer is my favorite time of year, as the beach is my favorite place to be. We live right here, so close to the beach and it is already JULY and I haven't had anytime to go put my feet in the sand.
Goals for July - Keep Jen healthy and try to have a little fun along the way!!

Surgery is inevitable so they say

2009-06-13T22:39:00.002-04:00

Well, this past week has come with more news of Jen needing surgery on her spine. In the past 8 months, it seems to have gotten worse by 25 more degrees. She is now at about 75 degrees, and the doctor says it will most likely continue to get worse. We will go back in 4 months, with the plan of surgery being soon after. This will give her some more time to gain weight and stabilize her nutrition too. Jen's seizures have been quieter up until Thursday. Well, here we go again with seizures. Of course another phone call from the bus company coming home Friday afternoon. Jen's seizures seem to be picking up again in numbers and are intense. There has to be a solution, but what?

Keeping us busy!

2009-06-04T22:08:00.002-04:00

Jen has been keeping us busy this past couple weeks. One good thing, her seizures seemed to settle a bit the past few weeks, still having them daily but fewer and less severe. But of course if those are better controlled, she must still keep us on our toes! Last week we had a new problem with her feeding tube which called for a visit to the Hospital, of course this was on a day she was scheduled for botox in her ankles, and at different hospitals all together. Needless to say the botox appt. got cancelled and we dealt with the g-tube issue. Ever since she had the g-tube, we are also dealing with her comfort level of her TLSO brace. It has caused more problems than good lately. Along with her therapist we have decided to discontinue it for the next week as we have an orthopedic appointment and hopefully they will have a better solution. There was talk of a molded type chair instead of the TLSO last time we were there, so we are hoping to be able to pursue that. Jen is just so uncomfortable in the brace, and we know it is not helping maintain her spine at this point, so we will wait til next week for the final decision with the doctor. SO.....now we have the g-tube resolved for now, the TLSO on hold, her botox appointment rescheduled, thinking we are on a good path again......until late this afternoon, I heard from her school nurse, she has had way too many seizures today, and then on the bus ride home had 2 more!!! She is settled for the night, and I am hoping a good night sleep will help for a good day tomorrow. Like I said, she keeps us on our toes!!

6 Pounds!!! Good Job Jen!!!

2009-05-22T09:03:00.002-04:00

Can't believe it is a month since I updated this blog. Jennifer has been doing good. We went to a Nutrition appointment yesterday, she gained 6 pounds in the last 5 weeks! She is going in the right direction now. Jen is still eating up a storm and we are supplementing through her feeding tube. Now they want us to get more free water into her. Always something, but at least everyone is thrilled the extra calories are working! The other subject are her seizures. They are not good, there has been no decrease since we changed her meds to go through the feeding tube. We were all holding out hope that this might help, but that is not the case. We go to Neurology next week. I am sure we will discuss the VNS again, and see what else they have as possibilities. Traveling on the bus to school is scary. It is not a good situation with the seizures and long bus ride as I have mentioned before. We had 2 more incidents recently where they were calling us as she was on her way home with seizures on the bus. Always something, but at least she is gaining the weight she needs to. One step at a time as they say.

Getting settled and now back to school

2009-04-26T21:58:00.003-04:00

Well each day is getting easier with Jen's feedings. She still can't tolerate alot at a time and they run very slow. Maybe this is the way it will need to be and we are adjusting. I really thought giving her meds through the tube as well was making such a difference. She did great the beginning of the week, very few seizures, but as the week continued, her seizures have once again picked up. Thursday, Friday and Saturday she had quite a few each day. Today she was very quiet all morning, not interested in lunch. She seems o.k, and healthy, maybe just a quiet day, but then again, we don't have quiet days with Jen too often.
Hopefully she can get back to routine of school, after school program, bus rides. Oh those bus rides, I am so uneasy of those!
Hopefully it will be an uneventful week!

No weight gain yet

2009-04-22T12:54:00.003-04:00

We went to Children's for a follow up appointment from Jen's surgery yesterday. She did so well, and was patient with the nurses and doctor. They weighed her and were surprised she hadn't gained any weight yet. It had been 10 days since surgery. I really wasn't thinking it was going to pack on quick anyways. Now we will talk to nutrition to add more calories. We really can't do more volume of formula, she barely is accepting what she gets. The doctor said because of her delayed gastric emptying issues, the feeding may very well have to remain very slow. The site looks good and they ordered other supplies we need on a regular basis. This is all taking alot to get use to. At night I am so preoccupied with her feedings, meds, etc.. When I come back downstairs 2 hours later, everyone is going upstairs to bed, no family life these days.

Our new routine, a challenge to say the least

2009-04-20T08:24:00.005-04:00

Jen has been going so so good this past week. We are settling into our new routine too. Our day starts about 30 minutes earlier than usual and ends a lot later than we are use to. It is a challenge. We have 1/2 her meds going through the tube, and the rest she swallows. She gets 2 feeds during the day which each take an hour, and one at night before bed. The one before bed takes 2 hours to run. She is tired and not wanting to be in her chair that late at night. This means she is in her room in bed. Sounds easy enough, but she has to be propped up at least 30 degrees and stay there. Anyone that knows Jen well, knows when she is in bed, she moves constantly on her back in a circle clockwise. I tried the other night to do it after she fell asleep, as she doesn't move around as much, but she won't sleep propped up on pillows, she needs to be lying flat, no pillow rolled on her side scrunched in a ball. SO - that didn't work. While it is running, one of us is in there with her, keeping her propped up surrounded by her pillows. She is funny, all of a sudden with quick force, she swings her legs and pivots around off the pillow. The tube gets caught up in her moving body, the bells ring because the feed shut off and the IV pole tips around, and she is happy as can be. This is all when I was right with her! It is a challenge to say the least for 2 hours! She is still getting use to it all and so are we, she needs the nutrition, but it is time consuming. I look at it like this, I thank goodness she has the strength and the ability to swing those legs, move her body and make herself comfortable, after all she is in bed, she should be comfy, BUT there is never enough time in the day to get everything done, and now, well like I said we are settling in.

Jen is doing great!

2009-04-14T08:09:00.005-04:00

Jen was admitted Thursday to prepare her for surgery Friday. Everything went as planned, so nice when that happens, as it rarely is easy for Jen anytime. The best case scenario happened for the procedure for the feeding tube. She was discharged late Sunday afternoon and has been in great spirits. I am so proud of her. As usual I talked to her about it all before/during/after and she was o.k.. This is when being able to read her eyes is so important. She was unusually quiet the entire time, and I knew she was nervous. Usually her tones in her voice help us figure out what she needs, but when she is so quiet, her gaze in her eyes tell the story. She really amazed me all weekend long of being so tolerant of so many strangers. The staff was incredible with her and us. It is unfortunate she needed to have a g-tube placed, but at least the experience was as pleasant as possible.
Yesterday was a day to recoup, she was very relaxed and patient with me, as if I checked her site once, I checked it a 1000 times.
Jen just left on the bus to school. She is packed up with loads of supplies and I made sure to send her favorite foods, snacks. I am headed to work, probably the best place for me to be, to get my mind off this past weekend. Hoping Jen has a good day, I am sure she will, she loves school and everyone there is so caring and experienced.

One step forward, many steps back

2009-04-02T21:25:00.003-04:00

Jen had another good week of school! She missed a 1/2 day this week for her physical appointment, but other than that, she has been there, although her seizures are very active and seem to be increasingly worse in length and severity. We spoke to the doctor today, she adjusted one of her medicines. I hope this gives Jen some relief. As I have said before her seizures control her moods which control her day. I had to get her from school again yesterday as they were so bad, the school didn't want her on the bus, and neither did we. Every time she gets on that bus, I time 50 minutes, praying she has a safe ride without seizures. She is safe at school and safe at home, we all know how to care for her, but when she is on the bus, as nice as the monitor and driver are, they are not able to help her, which means if she had cluster seizures or lengthly seizure, they will have to call 911. I feel like its a matter of time before it happens, and really don't like the feeling at all!! Her seizures are getting worse, and the bus ride is too long, but for now, its the only solution.

One week from today Jen will be at the hospital waiting surgery for the next morning. Once the feeding tube is placed and we get her better nutrition wise, we will pursue the vagal nerve stimulator to help control her seizures. We are kind of planning on this working, I hope it does, as what else is there to try? Always something!

Two weeks!!! You did it Jen!!

2009-03-27T18:07:00.003-04:00

Jen has made it to school for a solid two weeks without missing anytime! Finally back on track with her regular schedule. She does so much better with her routine in place. Of course next week she has an appointment and will miss a day and then the next week she goes into the hospital and then a week after that is school vacation week. To look on the positive side, March was better than February for her. Hopefully April will bring good health to her along with smiles and giggles! Hopefully.....

So far so good this week!

2009-03-18T20:10:00.003-04:00

Jen is having a great week! Very few seizures and seems to be happy and comfortable. When Jen is good, I am good. She is eating great but still drinking very little. She will go into the hospital April 9, and the g-tube surgery will be April 10th. Easter weekend. Hoping it will be as easy as the doctors seem to believe. It will be nice to get this behind her and on the way to better nutrition!

A week with no appointments!

2009-03-16T08:36:00.003-04:00

We have NO APPOINTMENTS scheduled. I am hoping with getting Jen back into a regular school routine, just might relieve some stress for her, which hopefully will result in fewer seizures, just maybe..... Here's to a good week Jen!

Seizures, no one should have to suffer with them!

2009-03-13T21:40:00.002-04:00

Poor Jen can't catch a break with these seizures. Today she had 4 sets of cluster seizures. They really effect her day. The last set was around 5, right before she was headed home from school. So the total today was 14 seizures!! Tomorrow we go for lab work to check levels, although there really is nothing the doctors can do for her now.
Her meds are maxed out pretty much. The next step would be the Vagal Nerve stimulator. But once again, her surgery for the g-tube has to come first. We have waited another week, no date set yet. I don't really understand it, the doctors say she must have a feeding tube, as she isn't maintaining her weight, but no one is in any hurry to set a date for the surgery, we will wait til Monday and call again. I said to the secretary today, this is not elective surgery we can wait for, it is surgery for a feeding tube, the sooner the better, my little girl is getting tinier by the day. So it looks like mid April at this point, hopefully she will stay healthy!!

CDKL5 controls our life

2009-03-06T22:24:00.005-05:00

Jen left for school happy this morning, she was out of school yesterday for an appointment, and I thought she would make it through the day. Unfortunately Jen had a terrible day of seizures and the nurse wanted me to pick her up instead of taking the bus at 5:30. Sounds easy, but this is getting to be quite a routine. I need to find someone to travel with me (at least 2 hours round-trip), change plans, rearrange schedules, not have dinner ready, etc.
Jen's day effects everyone's day in the family. Everyone's.....
We all get through it, but Jen's seizures are uncontrolled which means our family's life is uncontrolled. It would be nice to get everything back in control!

Whats in a diagnosis?

2009-03-03T20:28:00.018-05:00

So I get into a conversation with someone I have worked with for over a year about our kids today. In the middle of the conversation she asked about my youngest daughter, how old, what school, etc.... well how do I begin? 14, and then the converstaion goes astray as she is amazed I have a child with severe special needs. I hear - she doesn't walk? she doesn't talk? does she understand you? she doesn't feed herself? 100% dependent? really you have to help her with everything? everything? can she sit up? can she read? She has real seizures almost every day? Does she take any medication? This person is a sweetheart, and truly wanting to know about Jennifer. Then she says, how do you do it? take care of her and work? I smiled. I am thinking in my own head, of course I take care of her, and work, take care of a house, my other two kids, dog, cat, and just everyday life.. BUT YOU ARE ALWAYS SO HAPPY - you would never know you have a child like that to take care of. Well, at least when I am at work, I come across happy and pleasant, I really try to keep my personal life out of work, my personal life consumes me, Jennifer consumes me. I love being Jen's mom, but at work its nice to be known as Gayle, its like a getaway for me in a way. The days I am not at work lately have been spent at appointments, then you bet, I am Jen's MOM!!!

So the conversation turns to What is her diagnosis? Well if it was simple to say or explain, I would, but what am I suppose to say, Atypical Rett Syndrome-CDKL5 variant-early onset seizures. That is a long name of what the diagnosis is, but it means absolutely nothing except to other families that unfortunately have the same diagnosis. To the average person inquiring, how do you describe it, so I try.
Rett Syndrome is the most severe form of autism in girls... o.k., well if that is what Jen had, that might not be so hard - explain Rett Syndrome ( I can do that after all these years) CDKL5 - that means nothing by itself. Jen has so so many criteria to be diagnosed as Rett Syndrome, but does not fit Jen at all. She is so much more severe than a typical Rett Syndrome girl. I stop there and say how beautiful she is, as if I were to continue it would be Jen has been diagnosed with mental retardation and refractory epilepsy, she has severe scoliosis, she does not respond consistently to anyone or anything, yes she responds but not consistently, she does not eye gaze like the other girls, she will gaze but only if it is a novel toy,food etc. being brought into her vision. I couldn't descibe her like that, no way...
So Rett syndrome alone is not the correct description. If I describe a girl with Rett, I am not describing Jen, one day we will have a syndrome to go by, but today the closest is Atypical Rett Syndrome - CDKL5 variant-early onset seizures.

My preference of describing Jen is a beautiful red head with a feisty personality, that is able to get her point across without one word. She has a smile and giggle that will melt your heart. She has endured more tests than any human should ever experience and a little body that challenges her each and every day. Her daily seizures will control her mood, ability and overall strength for the day. She is much happier when spoken to and handled gently, and has unconditional love for anyone that will give her the time of day and will absolutely listen to anyone that sings to her. Her greatest love is food and music! She is my teacher. She has given me an education I never intended on having, she has taught me to speak up for her best interests and she has taught me patience beyond belief. That is the real Jen.....

Its just routine

2009-02-23T07:18:00.003-05:00

Appointments. So many of them. Lost days of school, work, regular life. Jen is such a trooper through them all. She is out again today and tomorrow, 3 appointments. She has come such a long way tolerating people touching her. Even going back a couple years ago, everytime the doctors would touch her she would rebel making the appointments difficult. Now she doesn't rebel, usually. She sits in the car looking out the window, usually looking very content for the long ride. She waits in the waiting room, will go through x-rays, ultrasounds, lab draws, poking and prodding,
and as long as I am by her side telling her it is all o.k., she is o.k.
I question why the change, it is huge, sometimes we think she has just given into it all, sometimes I just think it is all she knows, we all get use to routine, no matter what it might be. Well, headed out for our routine ride to the hospital.

Sometimes CDKL5 just HITS me hard!!

2009-02-22T10:25:00.004-05:00

So as I said in the last post we had a day full of appointments, which of course meant sitting in the waiting rooms, well waiting. We came out of one appointment and the very large waiting room was pretty much full, the only spot to sit and fit Jen's chair was by the chalkboard and the little table full of kids with a hospital volunteer coloring and chatting. I was sad anyway from the appointment we just finished. The volunteer seemed to recruit kids, inviting them to the table. Not a glance, not hello to Jen. So of course now I had something to do while we waited. There were other kids like Jen there, the waiting room is big and we were at a childrens hopsital. She didn't make any contact with them either. I know my daughter is different and yes very disabled. But i guess too scarey to say hello to, I didn't expect her to ask her to color, but acknowledgement, absolutely, it was like she made us invisible. Jen was sitting quietly with me, which is like I said before, very different, for years I sat in waiting rooms trying to quiet her, feed her, anything to quiet her as she has such a loud moaning voice. But this day, she was happy, smiling, quiet looking around. Again I don't know what she is aware of, I only hope she doesn't realize too that no one except for another parent with a boy in a wheelchair, spoke to her in that waiting room, not even the pediatric volunteer. So much has been taken away from Jen with CDKL5, but it is sad society still is so afraid of a person in a wheelchair, so sad.

When did she change?

2009-02-22T10:07:00.002-05:00

I have taken Jen to every single medical appointment she has ever had. As I am speaking with the doctors, she "talks" louder than we do, very disrupting, and doctors know if they acknowledge her voice, she will settle a few minutes, we can talk, then repeat the process to get through an appointment. The ones with no patience for it, well they aren't her doctors anymore. We know she is listening and contributing to the conversation actually about her. YES it is aggravating sometimes, but she has a right to speak, and actually there is no way to stop her from "talking" anyway.
Things have changed the last couple of months. We have had a load of appointments this Winter, she has basically been getting quieter each time. This last Friday, we had 2 appointments scheduled, which turned out to be 4 appointments by the time we were done... She was so quiet. The first was a serious appointment, I needed the information and I told her going in, "Jen I need to talk to the doctor, please be patient", see I always tell her the what/where/and who every step of the way. I do believe she gets it. Maybe because appointments are routine for her,and she needs structure, basically the same thing happens physically at most appts. for her,so I guess it is structured, routine. Even the doctor commented on how quiet she was, she smiled, so proud of herself. This appointment was full of stress for me, maybe she knew her "talking" over us was not going to help....just maybe...thanks Jen.

If only you could tell us what is wrong.

2009-02-11T21:14:00.000-05:00

Oh Jen, I think this is the hardest part for us. Something is wrong, she is hurting and can't tell us what is hurting her. It started yesterday, a call from school, she has a low grade fever and keeps crying out in pain, big tears, then settles, then starts up again. I picked her up from school again, and couldn't figure out what was wrong. We brought her to the pediatrician, who did a thorough exam on her. He couldn't find anything wrong either. Said to watch her for another day and if not better to bring her to Boston. Today she stayed home, no fever and seems o.k.. She is not crying out in pain. What was it? we will never know, but hopefully whatever it was will not show up again....... If only she could tell us what is wrong. It is so hard to watch her cry and not be able to pinpoint the problem. At least she seems better tonight.

Jen likes ride from Mom instead of the bus

2009-02-06T18:08:00.001-05:00

Well last night at 5:25 the school called saying Jen is having more seizures and they are not comfortable putting her on the bus in 5 minutes. She has a 50 minute bus ride and I agreed it wasn't a good mix to let her ride the bus. Ned and I met off the highway on his way home from work and detoured to Jen's school to get her. She had an o.k. night, and went to school this morning. She seemed fine, well by early afternoon, I received another call, more intense seizures one after another. I called the doctor, was on both cell and home phones with them both. If she had more the doctor said break the cycle with the medication. She asked if she was sick at all, "no" I answered. It was decided I was to pick her up from school again and not risk the bus ride. Well, after speaking to the school again, Jen has a fever, not high, but a fever. I made the trip and picked her up, and of course she only has her stroller for the weekend. Another story for another day.
I heard back from the GI doctor today. He wants Jen to be seen by a surgeon before scheduling her g-tube surgery, as she has had one in the past and it might just be more complicated than ususal. Of course, isn't that Jen's life? complicated?

No answer from Doctor brought us to a decision

2009-02-05T08:51:00.000-05:00

Well, we went to see Endocrinology as recommended by Neurology and Gastroenterology. The question? Why is Jen not maintaining weight? No answers to be found, again.
So that brings us to a heart wrenching decision - a feeding tube. You see, Jen had a feeding tube in 1999, when she had her surgery. With the surgery, they said she needed one, as she wouldn't be able to completely eat by mouth. Jen proved them all wrong, and a year later, after not using it, they removed it, with letting us know that one day she will need it again. We were o.k. with that, as believing removing it gave her more freedom, and less chance of infections with a foreign object in her body. She had been doing great, eating everything and anything we gave her, her love of food is her biggest passion. So we were able to give her 8 1/2 years without a tube. What an accomplishment! I should be happy it has been so long. Well, I am so sad about this, its all I am thinking about this week, can't get it off my mind. Somehow this just feels like a kick in the head to me. When I think logically, I know she needs it, but it also me makes me feel like I failed her. I know I haven't. I have searched for answers, goodness knows we have been to all the specialists possible, but poor Jen. She will still be able to eat all she wants, she has not lost that ability, thank goodness. It will be just for supplementing her needs.
So the next call is to the GI, to update him about this last appointment, and my discussion with the nutritionist, and I guess schedule a date. ughhh.....

Reality

2009-02-02T09:00:00.001-05:00

After talking to another mom online, I decided to add up Jen's seizures. I see the totals each day on the calendar, but never added them up monthly all together. Well, I just went back only 3 months, Jen has had approximately 152 seizures since Nov. 1.. Granted November was a horrible month for her, BUT 152 SEIZURES is just not acceptable. I don't need to look back any further. We see Neurology in 3 weeks, we need to change something....again...but what???

Another trip to the Emergency Room

2009-02-02T08:48:00.000-05:00

On January 23rd, Jen had another awful day of seizures. They started on the bus, which is always a scare for me, continued through the morning, but were always outside the criteria for use of the Diastat at school. While I was on the phone with her school at 3:30, she began having more. They were able to break the cycle with the Diastat, but of course the EMT's were called and I met her in the ER once again. Poor Jen, I always wonder what goes through her mind during the seizures, but also with all the medical help, the ambulance ride, the ER doctors. All I can say is thank goodness her school staff is so reliable and the most caring people I know. Someone always goes with her and stays at least until I arrive. I always find someone to travel with me so she will be safe on the way home in the car, but this takes time, and seems like forever just to get to her to give her a hug.. I can't be with her all the time, but when I hear she is being sent to the hospital, I get this sinking feeling, praying she will be o.k. when I arrive. How many seizures can this child take? Once again, we arrived, took her home, and its like it never happened. Thank goodness

She was fine when she left for school

2009-01-16T16:15:00.000-05:00

Jen is on her way home from school, early - they called at 2:30 saying she is so upset and fussing and has a lowgrade fever and needs to come home. (usually stays for the after school program til 5:30) The school suggested I call the bus co. to see if they could pick her up early. The bus company said yes and are on their way. I told them I could go but won't have her wheelchair for the long weekend. They had no problem going early, I don't like to ask for things like that. It is not a big deal to them evidently, but I feel funny asking.
For Jen's sake I hope the Motrin helps and it is a quick illness. She doesn't need any fevers, colds or anything that is going to keep her from eating and drinking. The school nurse said she had a couple seizures today too, ugh... poor Jen. To think we were on the fence of whether to send her or not today due to extremely low temperatures outside. I guess I should have listened to our instincts and kept her home. But I never thought she was the least bit sick or I never would have sent her. Well at least it is a long weekend and she can rest and hopefully feel better soon.

SHE SAID " MOM " !!

2009-01-15T20:49:00.000-05:00

So this morning was another early start for us, as I needed to leave for work the second Jen left on the bus. We were up early and in the kitchen, I was of course talking to Jen as I was picking up. I said, "So Jen who do you think is going to get the award? " ( I was telling her why I needed to get to work early) She says "MOM" !!!! I almost dropped the dish I was holding. I said, say that again!!! She said "MOM" !! O.k. she got the biggest hug, and the tears were flowing.. she was so so aware this morning, I knew she was listening, smiling and giggling. I actually had "Jen" with me for a few minutes.. That was the best few minutes I have had in along time!! I LOVE HER VOICE WHEN SHE ACTUALLY SPEAKS!! If only it were more often, but today was going to be a good day no matter what, she spoke to me, she actually answered me! And she was right, I got the award.

While I was at work, I found out her bus was going to pick her up early from school due to the snow. I left work early. She got off the bus so happy and seemed so aware again. We were up in her room watching a movie and she all of a sudden rolled on her side and looked me right in the eyes. I said hi beautiful, she gave me a huge smile, giggled and rolled back over. She rarely lets our eyes meet, she always looks away.
Again, she was so aware and intentionally looked at me.

She is happy and smiling today, and do I dare say, so few seizures this week. I know this is the difference. When they are minimal, she is a different person, aware and more in our world. May this stage last, it feels so good for her to be in our world for a change.

A long day for Jen

2009-01-09T18:11:00.001-05:00

The day started early today for both Jen and I, we left the house a little after 6am and didn't get to the hospital until 8:50. She was so good in the car. We met with the nutritionist and she went over Jen's diet, seems I was right, she takes in ALOT of calories, very few fluids and is very low on intake for calcium and Vitamin D. No surprise there. After numerous calls to verify supplements with her other specialists we now have clearance for a calcium enriched diet. We will see how she does, hasn't had any milk based things to drink, since she was 5, so it may take a bit.
So we have drinks, vitamins and a supplement added to the mix and we have about 5 weeks to work hard and get her gaining weight. Hope it works. If she can start gaining weight, maybe we can get with the original plan of the VNS for her seizures. Seems we take one step forward with one doctor, and two steps back with the next.
We also had labs and x-rays done today. Jen was so quiet all day, the nutritionist did not get the opportunity to meet the "real Jen" she didn't make a peep, not once, we actually had a conversation for over an hour. She made up for it at the lab though - she yelled, she cried, she was so so MAD!! I didn't blame her, she had enough!!
So after a day like that, we came home, cuddled up and watched her movie. She is happy to be home, with no one poking at her. I told her it is now the weekend, she can do what she wants for the next two days, I got such a smile from her!! On a good note, no appointments next week - none planned anyway!

A new day, a new chapter

2009-01-08T21:00:00.000-05:00

Last night I received a call from Jen's GI doctor to discuss her latest lab work. Good news was her thyroid is fine and she does not have Celiac. Great news!!! Then he tells me she has Vitamin D deficiency, and it is very low. Low enough to need mega supplements for the next 6 weeks. Also along with that she will need to take Calcium supplements. Well in order to do that we have to contact her nephrologist as we were suppose to limit extra calcium due to her kidney stone she has had for 8 years!!! So when I think I am doing right by my daughter with one doctor, another thing pops up in another area. So this morning was spent leaving messages for her specialists in nephrology and neurology as we need clearance from both before the new meds are started. They both called today and will hear back tomorrow again from one. In the morning Jen and I will travel to Boston for her awaited nutrition appointment, more lab work due to the deficiency they now will test even more, and an x-ray for her bones. One doctor said today she needs to have a bone density scan now which I am sure will be scheduled soon too. So tomorrow we will start the vitamin D, learn more about nutrition to get her to gain some weight, and try to keep it on her, learn how bad her bones may be..... not looking forward to tomorrow, as it only means more medications, more regimens and more future appointments. Poor Jen, she can't catch a break these days, we have been so happy her seizures are settled lately, and all this gets added. Her attendance from school has been horrible, as mine at work has, she has so many appointments, and our calendar for Jan and Feb is loaded already! Well off to get Jen settled in bed so we can get up at 5:30 and be on the road by 6am. Fun Friday, huh?

HAPPY NEW YEAR!

2009-01-07T11:13:00.000-05:00

Here is to a Happy New Year ! My wish for this year is that we all are healthy and safe!
Kristina is in Guatemala now, Ned left this morning in an ice storm to commute to work, and Katelyn, our new driver left a few hours later in the car to school.
Jen's body is challenging her everyday between seizures, medications, nutrition issues and her stiff body that doesn't move the way it should.
May this year bring our family less stress, health and happiness in all we try to accomplish!

December - the month went by so fast!!

2009-01-07T10:57:00.000-05:00

I can't believe it has been a month since I have signed in. I keep thinking I need to update, but never seem to get to it. So in a nutshell here is the past month. Jen has been doing great with her seizures, do I dare even say it? Only a couple a day if that, and short in duration since the middle of December. The doctor still wants us to inquire about the Vagal Nerve Stimulator, and we do too, but we have to jump through a few hurdles with nutrition and GI before anyone will consider it. Jen's weight is still unsteady, we go to nutrition this week for a high calorie diet - I certainly know I can't feed her more in quantity, so we will see what they have in store for us. We will make all attempts before we have to go back with a feeding tube, which unfortunately we have had discussions about with the various doctors. In a couple weeks we see endocrinology which is another new department for Jen. Since the middle of December, Jen's white count has been low, due to medications, but also means we have to keep her away from crowds, anyone the least bit sick, etc.... how do you do that when we have to go to labs, hospitals and doctors offices? So far, so good thank goodness she is healthy!! So many specialists and so much time needed to make all the appointments and then actually get to them!! It is a constant challenge, I had to cancel one today which was 1 1/2 hours away and we had an ice storm with 2 hour delays for the schools. The appt couldn't be delayed time wise, so waiting for another date now. My calendars are a challenge, and with each appointment I make, means asking for yet another day off of work. Well off to enjoy my day with Jen, it is stormy and raw outside, maybe we can watch a movie...lol... oh Jen and her movies, at least she got alot of new ones for Christmas !!

Do I dare say......

2008-12-05T08:46:00.000-05:00

Do I dare say it has been 5 DAYS since Jen has had a seizure! This is great news, maybe it was from the medication increase last week, whatever reason, we will take it! Of course it seems the longer she goes without a seizure, the more severe ones are usually lurking around the bend.

She has had a good week. Yesterday she went to the dentist, long overdue. She still has MANY baby teeth on the top, which now are in a row of their own next to the adult teeth. The dentist would like to pull them, but said since she is on so many meds, he needs clearance from her doctors to give her novacaine. Who knew? I guess it does go into your system and can effect your liver. Good thing its not urgent, he said to plan for Jan or Feb.

I try to get along with all the teachers, therapists, nurses, doctors, bus drivers, etc....alot of people that other families don't deal with on a daily basis. UGHHHHH, one school nurse really hit me the wrong way yesterday!!! I am not one to cry on a drop of a dime, but she brought me to tears....I don't know if I am more angry at her, or if I'm mad at myself to let her get to me!!!!

The most exciting news this week is that Katelyn got her license. She is doing great driving, already obtained a parking permit for school and is very independent this week. Kind of wierd not having to rush home to get her from school to work, etc... I will miss it though! Another milestone in the family!

I was really looking forward to today.

2008-11-28T12:03:00.000-05:00

The day after Thanksgiving. It is just Jen and I home for the day. I was going to accomplish all the things I have had to put off in the past couple weeks in the house. I thought I was going to just have a good day in the house. I was looking forward to it.
Well, once again Jen had other plans beginning with last night. She went to bed late, then was awake for most of the night between her seizures and stomach, there was no sleep for us. So I stayed up with her watching High School Musical for the 3000th time in the past year! It is noon time now, I am exhausted, she still hasn't fallen asleep and doesn't want to spend a minute alone, which is so unlike her. She has been downstairs a few times, and although not happy today is happier in her room upstairs. So three lifts up the stairs is enough for me today. Her lunch is cooking, and then maybe , just maybe we can both get some needed rest.
So much for my put off projects, they will be waiting for me when I can do it. But not today.
These sleepless nights are way to frequent, for her and me, and the rest of the family, as she is not quiet in the middle of the night to say the least.

Thanksgiving Day

2008-11-27T08:52:00.000-05:00

Happy Thanksgiving.

I am so thankful to have the family and friends we have. Thankful to have three beautiful daughters, all with their own personalities shining through daily, and a husband that is always by my side. Our family life has changed dramatically these past few years, but we have learned to make the best of each situation. Positive thinking does wonders for each new arriving day.

May we all be healthy, happy and remember to laugh each day.

Happy Thanksgiving.

What do other peoples calendars look like?

2008-11-27T08:46:00.000-05:00

I am sitting here with a little bit of time, filling in my calendar, or should I say calendars?

I have my Palm and wall calendars which have my schedule, the kids schedules, appointments etc. They pretty much duplicate each other, one is in with me all the time. Then I have Jen's calendar - all appointments, seizure activity, med changes, toileting issues, you name it , it is there. This is the one that is so time consuming, I pull it out all the time, as I am constantly adding something.

How one week makes a difference

2008-11-27T08:26:00.000-05:00

12 days ago we thought we were on a new path. Finally after a month of no seizure free days, Jen had a good weekend and three days of no seizures. We had just switched from a generic to name brand seizure medicine, and I thought that was the solution. I was so wrong. Last Wednesday she had 19 seizures between school and home. None were long enough or clustered together enough to use the emergency medicine. Most were tonic/clonic (gran mals) and they are so so scary to watch.
Then the next day she had many more on the bus and at school, well time for the emergency meds and the EMT's and the Emergency room once again. The doctors have now increased one of her medicines. She stayed home with me Friday and was completely wiped out. Usually she bounces back quicker. She just wanted to sleep and relax.
At least this gave me time to make the many calls needed to get better emergency plans in place for the bus and school, for when we are not with her. The bus company asked if I thought it was time for a nurse on the bus. We have been thinking this for awhile now, and this in my new pursuit, we will talk to the doctors and school dept.. So since last Friday, she has had a few seizures a day, back to quick jumps mostly. So we put last week in the back of our heads, moving on to each day hoping she has a good one that doesn't create havoc in her life or ours.

No braces, no seizures - a good day !!

2008-11-17T22:08:00.000-05:00

Jen needed to have lab work done this morning, which meant not taking the bus to school. She was so funny getting her labs done, she actually laughed at the lady the entire time. I on the other hand was not laughing. The lady was obviously freaked out by Jen being young and in a wheelchair. At least Jen found her amusing.
We then drove to school and again she was giggling away, knowing she was in her stroller for school and that meant no TLSO brace or AFO's for the day. BRACE FREE - I love the days she doesn't wear her braces. She seems so much more relaxed and always in a better mood. They don't hurt her, but I can't imagine having so much formed plastic clung to my entire body all day long. Of course the doctors say she needs to wear them as much as possible, so she does, but some days its nice to see her free from all the structure in her life!!
One more added bonus today, no seizures!!
Jen has had three days of appointments in the past 7 days. Enough for a bit anyway!!

Jen spends the day with her Mom

2008-11-14T20:09:00.001-05:00

Today is Friday, Jen stayed with me today.

We went for her flu shot, came home and had a real good day, we watched High School Musical 2 and then the Muppets together. Anything musical makes Jen happy - even my singing, She loves the attention even if the voice is horrific!
I spent time on the phone scheduling an Endocrinology appointment. This is a new department for her. She is slowly losing weight and we can't figure it out, so the doctors said this would be a good place to start. Of course it is Mid-November and the first appointment we can get is mid-February. Can't see this is good, hopefully we can figure out a solution long before February. She can't afford to lose anymore.
Unfortunately Jen wasn't feeling great later this afternoon, so we held off on Lab work and will go on Monday morning. I will drive her to school afterwards. She was out this past Monday for Neurology appoinment and then today, so she has to get back to school Monday.
Maybe the weekend will be comfortable for her with few seizures.

A little bit of history

2008-11-13T18:24:00.000-05:00

Jennifer was born November 8, 1994. She weighed in at 8 pounds, 8 ounces and seemed to be a healthy baby girl. She was our third daughter and everything was joyous. Her two older sisters adored her every move, as we did.

Everything was going along fine for the first month, until when she was about 5 weeks old, her Dad noticed her "twitching" in her car seat. Even under her little baby blanket, the twitch was there. We called the doctor, and they didn't see anything wrong. Christmas Day she went into a noticeable seizure. We again called the doctor. They had her seen at Children's Hospital. The seizures continued, yet never would show on the testing. We even video taped the episodes, the doctors would say they look like seizures, but don't show on any testing. The episodes increased.

By the time of her 2 month appointment, she was having troubles with her formula. Switched brands, types etc. as instructed, nothing helped. We then went into another hospital for Gastroenterology. They continued testing for formulas, allergies, and found nothing wrong, except she was visibly unhappy and in pain. Her 4 month appointment was all about the twitching and "colic". Enough problems for us to worry about, so we thought.

It was somewhere between 4 -6 months things really started changing with her. We went into the pediatrician, and asked - Can she hear o.k.? , Can she see o.k.? She isn't trying to hold herself up, and lets go of everything we give her. She had no interest and was not attentive to us. Well that lead to hearing tests, eye tests and an admission to the hospital for a series of GI tests. It was then, a neurologist came into the room, and took great notice, really concern for her. The questions he rattled off to me were amazing, it was at that point I realized someone believes us.

A very scary time in deed. This was the start of a new type of life, for her and for us, her family.

My life became consumed with doctor appointments, testing, early intervention classes, vision classes, physical therapy at the house. All this along with my other 2 girls who were 3 and 5 years old. I would shuttle them to kindergarten, preschool, get to appointments, and of course times I couldn't as I needed to be with Jennifer. Not by choice, but by need, the other girls learned quickly Jen needed Moms help, for everything she needed.

We continued with neurology, although they would not medicate her for her seizures, as they never showed on the testing. FINALLY at 18 months old, on the EEG showed a seizure pattern.
Very clear to the neurologist she was having many seizures. They thought they were possibly infantile spasms. Medication was started, it worked for a while, then they started up again. Another medication added, well a pattern of new medication - fewer seizures, then they would start up again. Meanwhile our little girl was so medicated, so lethargic at times, her feisty personality was basically gone.
At one point the doctor told me her seizures are coming from so deep in her brain, that even if they could surgically look inside, they probably wouldn't be able to find the cause. Our little girl so beautiful on the outside, was living in a world of her own, barely responding to us trying to play with her. So many therapies, and then the therapists, when she was 2 1/2 said that she needed more help than they could give and recommended a 1/2 day early intervention school based program. She went to this school three days a week, got physical, occupational, speech therapies, along with her vision therapy and music therapy. They went swimming in an adapted pool and did hippotherapy too. It was incredible to us that a program like this existed. It was hard to leave her there at first, but then I realized it was what she needed.
We learned from the therapists of all the equipment she needed. A special stroller, a stander, afo's, arm splints, a feeding chair, wedges, switches, you name it, we learned how to use it.
Realizing she was not going to be mobile on her own - yet - we had to make the heart wrenching move of ordering a wheelchair. That was our reality. Heart breaking yes, but we were so fortunate to have met these caring teachers and therapists to teach us the way.

We learned about all the equipment and realized the trade off was a wheelchair for a bicycle, afo's for rollerskates, or soccer or dance, each and every year it is another trade off.

We always tell people to speak to her as if she understands every word. I do believe she understands alot more than she can let on, but I am not convinced she understands what she is missing. I speak to her all day and don't move that wheelchair an inch without telling her where I am moving her to. Every morning we get up and I tell her what day it is, if she has school or an appointment. When I give her medicine, I tell her, when its time for bed, I tell her. One day she might answer me, we never know.

Jen was diagnosed with Clinical Rett Syndrome when she was five years old. Although she has so many characteristics, she never developed skills to lose, and is so much more severe than any other girl I had read about. The search was still on for an actual diagnosis. Years of genetic tests always came back negative, very frustrating to put her through tests, needles, biopsies, and always negative results. I was always researching on my own of what could be the cause of Jen's delays, seizures, issues in general. Well in June 2006 I came across and article on the internet about a family that had three children effected by CDKL5. I was reading along, and kept saying, these symptoms are like Jen's. Well, with more internet research, I found more about CDKL5, and how some very severe girls with Rett Syndrome with early onset seizures could have a mutation. We went to the genetic doctor, and I requested this test. He was floored, He wanted to know how I came about asking for it. I told him I need an answer for Jennifer. He said his lab was just setting up testing for this and Jen would be the first patient. WELL it came back , faster than he told me, and they called my husband and I in to be tested to make sure we weren't carriers of this alteration they found. Long story a little shorter, Jen has her own mutation on the CDKL5 gene, and is now diagnosed with Atypical Rett Syndrome-CDKL5 variant. OF course this is great we have the diagnosis, but reality there is no cure. 12 years of looking for an answer and it was very bittersweet. I thought that would be the end of my researching, oh it is not. Now I have connected with many other families across the world with children of CDKL5. currently I believe there are about 40 -50 cases confirmed. Imagine.

Hope - Oh yes I have hope that one day there will be a cure for these beautiful children. I don't know if it will help Jen in time, but if we can ever be a part of helping to find a cure, I would participate just to know a cure would mean no other kids or families have to go through what we do each and every day. Jen is still trapped in her body. Her seizures control her mood, alertness and overall day, each and every day. There has to be a cure somehow.

Words - well she had a couple when she was real young, she would consistently say MORE when she was eating. She used to say HI every once in awhile and the best one of all for me was MOM. So appropriate when she said those words. We hear very little anymore, but once in a great while I get HI, and just tonight I got MOM, oh it was a whining MOM, because she was impatient waiting to go upstairs, but it was MOM!!! I will take any word anytime, in any mood she may be in!!!

Celebrations - I now believe that the smallest events are just as important as the big ones. Any accomplishment of Jennifer's is huge huge huge. Its the small stuff in life that is important. Her Birthday is the hardest day of the year for me. I think, no, I know it is because we haven't had any milestones. NONE.. we haven't done the 1st birthday accomplishments, never mind all the years that have past. I relate Birthdays to milestones for some reason, so her Birthday is a sad day for me.
But I promise, I make it up to her every other day of the year. I believe I am her biggest cheer leader and advocate.

Advocate - Ask anyone that knows me, I used to be a quiet self reserved person. I must say I have changed quite abit, and I see it in myself. When I hear myself speaking to doctors, teachers,therapists or lab technicians, sometimes I have to think back and say, "how did I learn this stuff". I was a decent student, but would never ever imagined myself the way I am today. Jennifer does not speak in words, therefor I must speak for her. I believe she deserves the best medical attention I can find her, and I believe no stone is to be left unturned, any day for any reason.
This takes alot of time and energy on my part. The nurses at school say they appreciate me calling to let them know if Jen had a bad night, or has had seizures or whatever. They say they appreciate me updating them on her medications. APPRECIATE it!!! It has to be done, no exceptions. Of course in return, they ALL know, that I EXPECT them to communicate to me as well. NO exceptions.
Having a child with special needs, physically and medically is one big education I never expected to have. I may not have paid tuition for this, but have put in my time for the last 14 years. I have learned if you don't ask, you won't be told unless you ask. Also, I do believe most people in the education field are in it for the children. I also know they have budgets and others to answer to. I will never burn a bridge on this path of education, but I do expect to be part of the team for Jen's education. I have earned the respect I am given, but only because I respect them. I hear all types of horror stories of special education. We have been in two different towns since Jen started school. Convincing them when she was 3, that she had severe needs took a bit, but when we moved five years ago, we had to go around again. Reading Jen's IEP, she has goals, is delayed in all areas, but just reading an IEP doesn't tell the story. I brought her right into the office, they met her, tried to converse with her, and realized I knew what I was talking about. My daughter is very severe in all areas. Very sad yes, but she deserves her education.
They have been very good at meeting her needs in the private school she is now in. Thankfully we don't have any horror stories on the education side.

Hospitals and Doctors - We are fortunate that we live about 1 1/2 hours from Boston. All her specialists are there. We travel the highway frequently but at least some of the best physicians and hospitals are within our everyday reach. With all the issues she has, she really hasn't been hospitalized alot. When she was a baby, she was for GI and neurology testing. When she was 5 she was in quite abit for stablizing the ketogenic diet, then again a year later, she became very ill and needed GI surgery. Surgery is a scary thought for Jen. She did o.k. for the procedure, but a couple days out, her entire system started shutting down. We almost lost her then. Very frightening, doctors still have no reasons for it, and don't have a real reason why she turned around. Anytime surgery is mentioned, we research to see if there is another possibility. No one wants to relive that again.

Her health today is o.k. I would say. She has had better times. Her seizures are a constant worry, never controlled, she is on so much medication, and I really wonder if it is helping at all.

We had to make a huge decision this past Spring as her seizures were out of control. We put her on Felbatol, which is like a last resort medication for refractory epilepsy which Jen has. There are many potential side effects, some very dangerous, we have her labs drawn constantly to check for any problems we don't see. The first month was good, now we are onto her 6th month, and again we are discussing other medications with the doctor as seizures are not controlled.
To keep her on something so potentially harmful, if it is not really working well, well we need to be thinking about this again.

Food - A HAPPY SUBJECT FOR JENNIFER. she will eat almost anything we give her. She will continue to eat all day if we let her. She loves food, I believe it is her favorite thing to do! She eats loads of calories a day, and is a skinny skinny girl these days - fast metabolism along with seizures are probably the answer, but that is the new subject- weight.