Kathleen was born four days late but not soon enough for me. She weighed in at 8lb. 13oz., a pound and a half more than my other two children. My pregnancy was uneventful however at about six months, I complained often that Kathleen did not move as much as her siblings. I figured that because she was so much bigger, she didn’t have the room to move around. Or were my instincts correct and something was wrong….
I’m sure that Kathleen had her first episode the day we brought her home from the hospital. She was lethargic and rather non-responsive. I called her pediatrician and relayed what I was seeing. It lasted minutes and by the time I got off the phone, she was fine. In the months that followed, she had these ‘episodes’ always in the evening of stiffening and turning her head to the left. And the crying…it never ended. I would get her to nurse and seconds later the ‘episode’ passed. We would learn later that this was dystonic posturing.
When Kathleen was three months old, she suffered her first ‘seizure’/ ’convulsion’ or as we would know months later, an ’episode’. It lasted twenty minutes at home before we rushed her to emergency. About twenty to thirty minutes after that, with IV in place and Phenobarbital running through her veins, the ‘episode’ stopped. The testing came next…. Cat scan, MRI, EEG, blood and urine work. It didn’t end. We left the hospital the next day, not knowing what was wrong but the assumption was seizures. And so we started the path of drug therapy, using one anti-seizure medicine after another, nothing working and raising doses to levels higher than a normal adult would take in the hopes that it would stop these ‘episodes’.
At eight months, Kathleen had her first hemiplegic episode. Her left side would not do anything…her limbs were like a rag doll. I called her neurologist and he didn’t want to see her….”It sounds like Todd’s paralysis…it will be gone in 24 hours…call me Monday if that is not the case”. Here I was, frantic, and her doctor did not want to see her??? What was wrong with my baby??
The paralysis did not go away in 24 hours and after a phone call to her pediatrician, we took her to emergency at Stanford Hospital. There, a young intern while playing and observing her, turned to us and said, “I think your daughter may have paroxysmal dystonia of infancy”. My husband and I looked at each other….ok. After reading a medical journal article about the disorder, we agreed, by all accounts this sounded like what Kathleen had and the prognosis was good; she would out grow it. So we weaned her off of all seizure medication over the next few months and made an appointment to see a new neurologist on August 4, 1991.
Kathleen was 10 months to the day when she was diagnosed with Alternating Hemiplegia of Childhood (AHC). We read the medical journal article, near tears, knowing that this is what Kathleen had, and again my husband and I looked at each other and then at the neurologist and said “Now what?”
Treatment for AHC started three months later by getting Kathleen into a protocol study by Janssen Pharmaceutical. The drug was Flunarizine (Sibelium) and proved to have the most effectiveness in treating AHC. It was not FDA approved. We saw improvement about three to four weeks later in that the severity and intensity of the episodes decreased. She still had episodes that lasted 3-5 days with a break of 10-14 in between. These time frames did vary. Sometimes the episodes lasted fewer days and the time in between was less but they were always there. During the 3-5 days, the episode would start on the left side of her body, and then her entire body would become involved, eventually switching to the right side of her body. Sleep would eliminate the episode for a short time and then we would start again. I believe that pain would sometimes accompany these episodes and it was like a contraction during childbirth, she would start to cry and that cry would escalate, peak and then subside. Fortunately, this did not happen often. But it broke my heart every time it did.
About four years of age, the episodes made a change and were not as frequent. At that time we added the drug Ativan which is of the benzodiazapine family (or Valium). This combination was very effective and for the next few years, Kathleen’s episodes where not as long or as severe.
By December 1995, Janssen Pharmaceutical ended their eight year study. Janssen concluded that the use of Flunarizine for AHC was inconclusive. They directed us to purchase the flunarizine from England, which we did.
At seven, Kathleen had a major episode because her Flunarizine was stopped in customs. She was without Flunarizine for 10 days and this threw her into an episode that lasted seven days, and ultimately landing her in the hospital. It was a nightmare. The set backs she suffered from this episode took her six months to recover from and then she was back on track. The next few years were uneventful in that Kathleen continued to have episodes but continued to thrive and make gains. Yes, she was delayed developed in many areas and her speech was very hard to understand but cognitively, she was on target.
In January 2001, Kathleen suffered another major episode and we don’t know exactly why. We were weaning her off a medication that was supposedly ineffective and she caught the flu. Maybe this combination….we will never know. The episode lasted for three weeks and out of those three weeks she was in episode for the first two of them except during sleep. The third week, the episode lessened but Kathleen was weak from the duration. She finally returned to school after a month.
She never did return to baseline but did make steady gains. She continued to be a full inclusion student with a one on one aide until she graduated from middle school. At her graduation, she received the principal’s award. We had no idea and when he started his speech regarding the award, he said, “This student is an inspiration to all of us. She gets up every morning, not knowing what the day will bring and she has a smile on her face. She meets her challenges head on, with no hesitation.” We were so surprised and thrilled for Kathleen. It was an outdoor June graduation and it was raining!! Of course the excitement and weather caused a full-blown episode but it didn’t matter, she still had a smile on her face through it all!
Like all teens, the transition to high school was an adjustment. During her freshman year, her episodes increased and for the first time in years, I had to pick her up from school every other week in the fall because the episodes were so severe. Things finally calmed down in the second semester and Kathleen found her place. Kathleen still had a one on one aide, was in a special day class (SDC) for her core classes and then mainstreamed for her electives. Kathleen was quite outspoken….even when she couldn’t speak well. We had purchased a communication device called a Lightwriter during middle school and it was a blessing as it allowed Kathleen to speak what was on her mind. Her teachers said she was always the first one to raise her hand with answers or to go first for project review. Our goal was to always try and make Kathleen feel included in her surroundings. The hardest challenge was making friends. While she had friends at school, there was never the socialization outside of school. She didn’t want to go to dances, football games or school activities.
The months leading up to Kathleen’s graduation in June 2009 were a roller coaster of emotions.
The months leading up to Kathleen’s graduation in June 2009 were a roller coaster of emotions. Kathleen passed the California High School Exit Exam (a requirement of all high school students in order to receive a diploma in California) and would not be able to stay another three years and attend the life skill classes that were available to her until her 21st birthday. While we were so proud and thrilled with Kathleen’s achievement, we were asking ourselves “What do we do now??”
So the search began and I soon discovered that not much existed – or not what I thought would be best for Kathleen.
Kathleen was first recommended to a program that had day services, transition for young adults, life skills development and vocational services. She was assessed for a week and didn’t like it at all. The next two programs were just out of the question.
Having exhausted all suitable and non-suitable programs, I called Kathleen’s case manager for more suggestions. However he was on vacation and I was directed to the case manager on call. I explained what we had done so far and what I was looking for. She listed various programs which I had already contacted or Kathleen and I had visited until she said “Hope Services”. After a brief description of their program, it sounded perfect! It was a work program and had adult education classes. So the following day, we visited Hope but came away disappointed. The clients needed to be totally independent! Kathleen needed an aide. What we didn’t realize was that Kathleen could attend the classes independent of the work program and so within the month, Kathleen started Hope Services. But it took a lot of searching, phone calls, questions and visiting many programs to find one that was appropriate for Kathleen.
Almost three years later, Kathleen is still thriving!! She loves being on her computer and Ipad, reading through Facebook, sending emails and texting. She is quite a computer nerd! She also enjoys the Sunday comics, scrabble and is a great help around the house! She still has dystonic episodes several days a week and almost everyday during the winter. But she is learning to calm herself which makes the episodes end faster.
When I think back to the day Kathleen was diagnosed, we had no idea what the future held and after reading the medical journal article about AHC, the outcome looked bleak. Kathleen has far surpassed what we thought she would be able to do. She is both physically and mentally challenged but her tenacity and drive outshine her disability. We are blessed to have her in our lives. We don’t know what tomorrow holds, but Kathleen teaches those she touches each day, that we shouldn’t sweat the small stuff. Life is good!
We are blessed to have her in our lives.
In 2012, Kathleen changed programs. The new program was a mixed blessing; she now goes 9:00am-3:00pm four days a week, travel time was now only 10 minutes vs. 25 minutes on a good day and we traded academic classes for a more simplistic structured program. Kathleen enjoys the program and has made a whole group of new friends. One day a week, she goes to the mall, has lunch, visits with the friends, and shops for items she might need. It is a great way for her to practice her math and reading skills all the while interacting with the community. We continue to encourage independence, which has been relatively easy because Kathleen wants to do most things herself. We have also started talking about Kathleen moving out into a group home. Like all things, it will be a process.