Erin at 9 1/2 years
ERIN'S STORY
I had a perfectly normal pregnancy and delivery. This pregnancy was especially joyful because my husband and I had always planned on having
4 children, but stopped after our third child, who came early, and even though everything was fine with her, it scared us a little. So this pregnancy was my 4th and I was so happy to be making our family complete. At birth Erin was
7 lbs 4 oz, a very content baby who nursed well almost immediatly. There were no signs of trouble, and the hospital released us after only 1 night. I pushed for that, as I had 3 little ones at home, and I just wanted to get into
my own routine. After about the second day at home, I realized that Erin hadn't opened her eyes. I knew she had eyes, but she couldn't open or lift her lids. This is when we found out she had ptosis. The doctors talked about surgery
to fix her lids, but they would not do it until she was about 3 years old as the muscle they needed would come from her leg near her knee and it would be mature enough at that time to use. By the time Erin was about a year old, I realized
that she would not be able to learn to walk with her eyelids the way they were. In order for her to see, she had to tilt her head way back, and this would throw her off balance everytime she tried to take a step. So we pushed for an earlier surgery
and she had her lids fixed at 18 months. We had donor tissue for the surgery, as her little legs were not mature enough to take muscle from. This made us so grateful for the donor program! The doctor even put creases in her lids, which she
did not have at birth. We may have to redo the surgery when she is a young adult, depending on how she grows and if the lids start to droop again, but we will cross that bridge when we need to. Erin did learn to walk when she was about 2 years
old, but she prefered to crawl or stand or even better, get mommy to carry her! She was a very loving child and I carried her willingly - she will always be my baby - being the youngest.
During those
18 months we realized there were other things not "normal" with our Erin. She seemed to choke easily when nursing or drinking, and she wasn't hitting all the milestones. She was gaining weight and growing, but not like our other children.
You see, my husband and I are quite tall, and so are our first 3 children, but Erin wasn't keeping up. Also she wasnt talking, she wasnt even trying it seemed. She was just the most beautiful, happy and content baby, that honestly it was hard
to think that something was wrong. I remember my mom saying maybe she is deaf, and that's why she isn't talking yet. But we knew she wasn't because she loved to sit (in her car seat) in the middle of her playing sibblings. She would turn
her head at noises they made and smile whenever anyone talked to her. So countless doctors and appointments got us nowhere, and we all surmized that maybe since she was in an almost dark world (because of her eyelids) for her first 18 months, that it
took a toll, and in time she would catch up.
We started speech therapy programs with her and taught her basic sign language. She seemed to do really well with the signing, and the speech ever so slowly filled
in the gaps between signs. Her first word at about 2 1/2 years old was "mimbit". If you are Canadian you might recognize this word. In Canada we have a coffee shop franchise on almost every main intersection called Tim Horton's
- and yes like a lot of Canadians, I'm addicted! I always took Erin with me on my errands to town, and I always would go to the local Tim Horton's drive thru and order my coffee and 3 chocolate timbits (the hole they take out of the donut)
for Erin. On this particular day as I waited in the drive thru line to order my usual, I heard Erin making a noise in her carseat behind me. When I looked at her in my rearview mirror she was signing please and saying "mimbit".
I didnt even order my coffee when I got to the speaker, but I ordered a huge box of timbits and sat with her in the parking lot and cried and laughed as we ate those chocolate timbits!!! Not only did she speak, but she knew what she could get at that
brown brick building!!!
When Erin was about 2 years old, her sister Jordan had a really bad asthma attack and was hospitalized. I stayed with Jordan in the hospital and Jim would bring the kids in to
see us. One day, during one of these family visits, the pediatrician came in to check on Jordan. He was a very nice man and visited with all of us and was very intrigued with Erin. He asked us if she was our biological child because, he said, "she
doesn't match your family". We were a little puzzled and taken back by this, but before I knew it I had an appointment with him for Erin. This was really the start of our medical journey with Erin. He did a thourough medical exam and
check up, asked me a million questions about her milestones and our family history. There was lots of bloodtests done including checking her chromosomes and he ordered an MRI. Then a few weeks later another appointment
for results. Her chromosomes are normal - they cannot find anything wrong there, even after redoing the test 2 more times! The MRI showed pachy gyria, a brain malformation that goes under the umbrella term lissencephally. This is basically
a malformed brain, a condition that happens while the brain is forming. He sat me down and told me that she may never walk or talk, let alone lead a normal life. I was so angry!!! I thought how dare you put a label on my beautiful little girl!
I was on a mission - I would prove him wrong! I worked so hard, as did everyone in our family. Well she walks, she runs, and she talks!!! Looking back I am so thankful for that doctor saying that - it made us work harder to give Erin
all the best chances of leading a "normal" life. Of course as she got older I realized that Erin would never be "normal", but who gets to say what normal is anyway??? Erin is the most loving happy little girl, who loves meeting new people,
especially other children. She is full of life and wonder. She can make a perfect stranger smile and say hello to her. She is very girly, she loves mothering her dolls and stuffed animals, and loves being read to.
When Erin was about 3 - 4 years old she started having drop seizures. We didn't know that they were seizures at the time, wondering if there was something wrong with her inner ear causing balance issues. You see these seizures only happened
as she woke in the morning. She would get out of bed and run to the kitchen to join us having breakfast. We heard her run and fall and giggle and get up and run to us. She never got hurt and she seemed to just fall and then pick herself up
and continue on. But all the hearing tests and ear nose and throat doctors could not find anything wrong. With exception of one doctor who told us she needed tubes puts in. We never did that - she had one ear plugged with wax - but once
that was corrected with a warm water syringe - the need for tubes seemed ridiculous, especially when all the other doctors said her ears were fine. When she was almost 5 years old she had her first grand mal (tonic clonic) seizure. Its a scary
thing to witness when you have never seen a seizure, especially when its your child. Erin has mostly drop seizures, which has caused lots of injuries over the years, like a broken nose, lots of chipped teeth, facial cuts and head trauma, lots of sprained
ankles and wrists and a separated shoulder. She has been wearing a helmet for the last year and half and that has completly stopped any head injuries. We also have a stroller wheelchair for her, because if she has a seizure when we are out, I
cannot carry her anymore. Also she is safe in the stroller as she is harnessed in, so she cannot fall out if she has a seizure. The stroller and helmet have been a Godsend. At first the drop seizures only happened as she woke in the
morning, but now she has them anytime during the day. We have no warning at all and we dont think Erin feels them coming. We have noticed that if she is coming down with something or if she is overtired or overstimulated or stressed or
if there is a storm system coming in (a low system), she tends to have more seizures. She also still has grandmal seizures and sometimes her seizures are in clusters. She can have countless seizures on a bad day, and
then she can lose a whole day because she is so tired after these seizures. We have also found that Erin is very "connected" to us. By this I mean that if we are stressed she seems to sense it and becomes stressed herself. We try
to keep her world as safe and as stress free as possible, but of course, life is still happening and it is not always possible to control the triggers.(rememember we farm and Erin has 3 older sibblings)
We have
tried lots of different medications for seizures - and its always try - some work great and we have no seizures for a while and then they stop working (because her body gets used to the medication) and we have to start all over again. I'm not
sure if telling you what meds we use will be helpful or not, because every brain is different and will react differently to medications. But here is what we are using now: Valproic Acid, Keppra, and Nitrazepam and we recently added Topiramax, but
we are not seeing that it is helping after almost 2 weeks. We really like our pediatric neurologist. He is a kind man and Erin loves him. Sometimes I am angry and wish he could just come up with the magic concoction that would make this
all go away, but I know that is not really possible for Erin to have any quality of life on higher doses. He could prescribe heavier doses but she would be a vegetable in her stroller. We are going to try the ketogenic diet, but are on a wait list
currently to start that. Fingers crossed!
When Erin was about 7 1/2 years old she had her appendix out!!! She had complained all day that her tummy hurt, and later in the day when she
didn't seem any better I took her in to the emergency room. Boy was I ever surprised when they said her appendix needed to come out - A.S.A.P. !! I thought to myself - what else does this kid have to go thru? They transfered her
by ambulance to the big hospital where all Erin's specialists are, as I had drove her to our local hospital emergency room. By early the next morning the surgery was done, just in time according to the surgeon. We stayed for 2 nights so they
could monitor her, but everything was OK, and we headed back home to finish the healing process.
Erin also has swallowing dificulties. She is very drooly and wears a bib. She can soak atleast
3 bibs a day, but sometimes its worse. The amount of seizures she has had may have something to do with this, but it could also be the Nitrazepam. She doesn't swallow properly and so we have to mash her food and watch her closely when eating.
She has had a few scary moments of choking, but knowing the heimlech has paid off. Because she doesn't always swallow properly, she has asperated, causing pneumonia. This isn't fun because when she is ill she has more seizures, and is
more sleepy, making recovery from pneumonia harder. But she does bounce back and we haven't had pneumonia now for about 6 months. YEAH!!!
Erin doesn't always sleep well. Her sleep pattern is all
messed up and no matter what I try I just can't get her on a "normal" (there's that word again...) routine. I try to get her to bed by 8 pm every night. On a good night she will sleep 12 hours. That happens once or twice a week. On
the other nights, she doesn't fall asleep easily and is up a dozen times until about midnight, or she falls asleep right away, but can be up at 3 or 4 in the morning for about an hour. Of course on those sleepless nights she can't get up in good time
in the morning, and she will need a nap at some point in the day. If I try to get her to stay up longer so that she will sleep better the next night, we risk having seizures because she gets overtired. It's a small problem that we have not been
able to overcome, and leads to some restless nights for me.
Sometimes Erin has what we call "meltdowns". She gets really upset, sometimes she cries, and sometimes its much more involved and she is angry.
She has never hit or hurt anyone, but she is very hard to console in these meltdowns. When she was younger, lots of love, hugs and patience and time worked, but as she is getting older, we are giving her some time on her own first to let
it all out, and then lots of hugs etc seems to be doing the trick. We ussually have about 1 meltdown a month, and as she is coming into puberty we realize that it may be hormones. Also, we think she feels frustrated because of communication issues,
and a feeling of a lack of independance. We try to help her feel as independant as possible, but that is hard for safety reasons. She has some things she can do on her own, like ride her bike (a four wheeled go cart style bike), but of course we
are never far away.
When Erin was about 10 years old, we entered into a study conducted by Dr Dobyns from the University of Seattle. He was trying to see which gene
was responsible for this syndrome and why. This study was also going to be able to tell if my husband or myself were carriers, and also if our older 3 could be affected when they started to plan a family. It was a great day when our genesist called
and told us of all the results. We were not carriers, nor were our children! What happened was a genetic "fluke". Here is where you can read about the study:
http://www.news-medical.net/news/20120301/ACTB-and-ACTG1-actin-genes-cause-Baraitser-Winter-syndrome.aspx
She will be starting grade 8 next week, but she spends most of her time in a grade 1 class and a kindergarden class. Academically she is like a 5 year old at best. She can count to 20 on a good day. She knows
her ABC's in order, not out of order, she recognizes letters by relation to people and things she loves. Like "C" is for cat and "E" is for Erin etc. She can draw simple stick drawings. All of this has taken a long time to accomplish. I have
to add though, that she is very inteligent, she takes in everything that is being said around her, and it is all in her head, waiting for the day to come back out. One day last school year, her teacher asked her a question about the math work the class
was doing. She could not answer the question, but the next day when the teacher asked the class something about another subject, Erin put up her hand and answered the math question from the day before! We have recently purchased an ipad
for her. There are some great apps for helping with communication, and some games that help with her fine motor skills and memory. She loves the ipad. She is in a regular school (our local public country school) with a full time educational
assistant. She loves being at school! I am blessed to be able to have her in this school. The staff are all amazing and she loves all of them. The students are so accepting of her and they are always encouraging her, and truly care
for her. Erin is loving all of it, but I can't help but think how great it is for the students at that school to grow and learn to be all inclusive. The world would be a much better place if we all treated each other as
the staff and students do at Erin's school!
Next year Erin will start high school. She calls it big girl school and points at it everytime we drive by. She is looking forward to going there. Of
course, I am a little nervous about it all, but it is the next step and Erin will do fine. We have a saying around here that we use a lot - "Erin is fine, but as usual it is the adults in her world that have the issues".
Erin loves music of any kind. The louder the better! She will dance and sing and sometimes be the orchestra leader. At school concerts she sits and conducts the choir from her chair. When we are driving and if I have her in the
front seat, she has to touch the volume - its never loud enough for her. We have had her hearing checked, as part of this syndrome is hearing loss as they get older. So far there is minimal loss, but we will keep checking. In the meantime,
we will keep turning the volume down.
In 2011, we added a new member to our family. Bella is a chocolate standard poodle. She has quickly become a very important member. She loves Erin. When
Erin has a seizure, she quickly comes to her and lays on her and licks her. When Erin is not feeling well, she lays on the couch with her. She has not shown us yet that she senses the seizures before they come, but the comforting she provides Erin
during and after a seizure is priceless. We were looking at getting a seizure response dog, but adding this very inteligient animal as a family pet has worked wonders for our household.
I recently found another
family in the States with a son who has Baraitser Winter Syndrome, and it was such an exciting, emotional day for me. We are no longer alone. It was like a weight had been lifted from me. I am looking forward to lots more conversation
and building a friendship with that family.
Also, I need to mention that we have respite help with Erin. We have a wonderful lady that comes and spends time with Erin so that I can have a break, or spend
time with the older three, or whatever I need. I have access to this through a government program. I can have this respite for about 6 - 8 hours/week. It is another Godsend for me and the whole family, but also for Erin. She always
has fun on the outings. Over the years we have had a couple different people providing respite and they have become an important part of our family. We are so thankful for them!
Anyway, I will add
more as time goes, but I think this is a good start. Enjoy the pictures. Thanks for reading!