Rare Disease Day 2012

Photo by Monica Parkkonen Photography

In honor of Rare Disease Day 2012, I would like to share my daughter's story with the hopes that another parent will stumble across this post and find a friend to share this very confusing and often inspiring journey with.  In order for a disease or condition to be considered as rare, it affects less than 200,000 persons in the United States. There are currently less than 100 known cases of 2q23.1 Microdeletion Syndrome internationally, making my daughter's diagnosis extremely "rare".

My daughter is 2 years old and was born in the spring of 2009. She had her first seizure when she was 4 hours old. My husband and I were so scared and confused because I had a "perfect" pregnancy and delivery. She stayed in the NICU for 5 days and the seizures seemed to have just stopped. All of her initial tests and scans came back "normal" so they sent us home thinking she must have had a traumatic birth. She was a great baby, hardly ever cried and picked up a schedule much easier than her big brother (5) did. We were referred to genetics and they started running more tests. I wanted answers and thankfully so did our pediatrician.

At her 3 month well child visit, we noticed that her head circumference had dropped to >3 percentile and she was not tracking objects. I was concerned that her muscle tone was low because she felt very limp to me. We were referred to Pediatric Neurology and received her first diagnosis, Microcephaly, when she was 4 months old. More tests were ordered, but everything kept coming back "normal". At this time, we noticed that she was starting to miss milestones, like holding her head up and smiling AT us. She was still a very happy baby, but my heart kept telling me something was going on. Thankfully, we still had not seen any more seizures since her birth.

At 6 months she was referred to our state's Early Intervention program, and she was recommended to receive PT/OT and Speech Therapy once a week. There was a service provider shortage at the time, so her therapies did not start until she was 8 months old. While we were waiting for therapies to start, our genetics doctor suggested one more test, Microarray. Since all the tests before came back with no answers, we were not very optimistic about this one either. In December 2009, the week before Christmas, my daughter was officially diagnosed with 2q23.1 Microdeletion Syndrome.

Our genetics doctor recommended checking everything that was associated with this deletion. From this search, we found out that she is extremely far sighted and was prescribed her first pair of glasses. She smiled AT us for the first time that day. Therapies began and she started to show signs of improvement in her muscle tone and started to hold her head up on her own at 10 months. The week of her first birthday, she rolled across the playroom for the first time. Her heart and liver were checked and no abnormalities were found. She has had 1 MRI which showed a fully formed brain, but it was much smaller than average for her age. Three EEGs have all come back clear, but she has never had a seizure during an EEG either. Behavioral Pediatrics has screened her for Autism and they do not believe that is a concern right now. My husband and I were both tested and neither of us showed the same deletion.

When she was 15 months old, her seizures returned. She has Complex Partial Seizures and Absent Seizures. They usually lasted 30 seconds to a minute and were coming in clusters of 3 or 4. We spent the next 6 months trying to regulate her medications and thankfully she has not had another seizure since March 2011. She currently takes Trileptal and Keppra. We discussed trying to take her off the Keppra if she goes 2 years with no seizures. That would be amazing, but scares me too.

Around her second birthday, she began waking up several times a night and was having a hard time putting herself back to sleep. We were worried that her lack of sleep at night was effecting her development. Our pediatrician sent us to a sleep specialist in June 2011 and he recommended an overnight sleep study. It showed that she was having on average of 10-12 sleep apnea episodes per hour during her sleep cycle. Her tonsils and adenoids were removed in August 2011 and in October 2011, after a follow up sleep study, she dropped to only 1 episode per hour which is a HUGE improvement and she is no longer considered at risk for sleep apnea.

We are very fortunate to have a preschool program for children with special needs where we live. She started attending school here 3 days a week in April 2011. She receives all of her therapies at school, plus a preschool education. We have noticed big changes since she started school. She is much more social and interacts with everyone around her now. She loves music and actively participates (in her own way) during music time. She started sitting independently at 2.5 years old, but still tires easily and is not able to sit for long periods of time. She uses a stander to strengthen her leg muscles and joints. Most recently, we receive a Pediatric Special Needs Stroller to help give her more support during outings.

She gets around the house by rolling where she would like to go. Thankfully we are in a one story home and this has helped her gain a little more independence. She is very curious and has learned to gain our attention by pulling on our pants leg. She enjoys watching her big brother play, but is not yet playing with him. The tone in her voice helps us understand (most of the time) what she is trying to communicate to us. She says "dada" but does not seem to connect the word with her dad. She says a few other consonant and vowel babbling sounds, but no other words. Recently, her receptive language skills have improved and she is beginning to make progress in speech therapy. She likes to chew on her clothing and we have to watch her closely so she does not chew on her glasses. She is a very healthy eater and enjoys mealtime. She can finger feed herself small, bite size, pieces of food. She is currently working on holding a spoon. She started using a sippy cup at 1 year, and is now able to hold the cup on her own to drink. She prefers to drink from soft spout cups with no handle and has not developed the muscle coordination in her mouth to suck from a straw yet. She struggles with constipation problems, which her pediatrician says could be related to her low muscle tone through her trunk. Miralax and a high fiber diet seem to be helping.

Some physical attributes that were noted during her last genetics appointment (2.5 yrs) were smaller hands and feet, spindle shaped fingers, thin finger and toe nails, long eyelashes (but I'm still counting that as a family trait), and her upper lip bows upward. Her head circumference continues to chart in the <3 percentile and she was 3% in weight and 11% in height. 

There are less than 100 known cases of 2q23.1 Microdeletion Syndrome. We have met families as far as Australia that are living with this rare chromosome deletion. After talking with other parents, she appears to be on the more severe end of disabilities, which is sometimes hard to understand, but she is very happy and always smiling. She loves being with her family and making friends. What she lacks in abilities, she more than makes up for in personality. My grief still comes and goes in waves. Right now, I am extremely happy with the progress she is making. I know that her future is unknown, which I see as a blessing and a curse. If nothing is certain it means anything is possible, and as her parent I am going to give her every opportunity to succeed.