A little bit of history

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.