Meredith Elyse – DOB 12-25-1989. Merry Christmas!
Meredith is our fourth child. She was preceded by three brothers, who are now 23, 21, and 18. The pregnancy was uneventful and other than being born on Christmas, so was the labor and delivery. She weighed in at 8 pounds even and was 21 inches long. Her Apgar scores were 9 at one minute and 10 at five minutes. After three boys, we had a little girl who appeared to be quite healthy. We took her home after three days and I started enjoying having another female in the house.
Her infancy seemed pretty uneventful also. She slept and ate and slept and ate – a pretty normal baby schedule. The only things I recall being different from the boys are she slept through the night at a much earlier age, and she would often fall asleep while nursing. We have pictures of her at four months on her tummy holding her head up and smiling at the camera. This early on, there were no indications of what was eventually to come.
She continued to accomplish the expected milestones; the only thing I noticed was that she did everything later than any of her brothers. Not a lot later, but later. Still, I wasn’t too concerned. She was a large baby and being the only little girl in the extended family, was quite spoiled. Everyone carried her around all the time, and everyone seemed to know what she wanted, so she didn’t have to ask for anything; people were always getting her things to play with or eat or drink. She was cruising furniture by 12-13 months, but that lasted for almost 7 months. When she got to be 15 months, I questioned her pediatrician at every visit, but I kept getting told to wait one more month. Finally at 18 months the doctor agreed to recommend an evaluation if she wasn’t walking by 19 months. Of course, by 19 months she was walking, so no evaluation was conducted.
Since I needed to return to work, Meredith had entered a daycare at 9 months. For the first year or so, they didn’t seem to notice anything serious either. By the second year, walking was an issue because the group she was supposed to join included kids who could walk and run independently, and she was doing neither. We put her with them anyway and within two months she did start to walk, but she was not very stable and had to be closely monitored. Stairs were also problematic. She could not keep up with the rest of the class. But the teachers were very patient and worked with us.
After her second birthday the director at the daycare approached me with some concerns. Meredith was still very unstable, had trouble on the stairs, and really wasn’t talking like the other children. She suggested we look into having her evaluated, which we did. We have an Easter Seals facility very near to us, so I made arrangements to have a full evaluation done there. I still wasn’t too concerned as she was still making progress. The gap was there, but at this early of an age, it wasn’t as apparent.
The results of the evaluation showed slight delays in speech and motor skills, and plans were made to begin therapy in both areas. The team also suggested that we take her to a neurologist at some point to see if there were any physiological reasons for the delays. It was also suggested that we see an ear, nose and throat specialist to evaluate her hearing, tonsils and adenoid. This was during the spring after she turned two.
That summer and fall, we saw the ENT doctor who felt that she needed tubes in her ears, so that was done in the early autumn. We expected to see a big difference in her speech since several people we spoke with said that was what happened with their children. The biggest reaction we noticed was that she covered her ears when I used my electric mixer, which she had never done before. The speech did not improve like we expected.
The therapies continued and after her third birthday we started seeing a neurologist at DuPont in Delaware. He was phenomenal! He ran numerous tests, examined her several times, and kept saying he believed something was going on, but he couldn’t pinpoint it. He made numerous calls to other doctors, but even after 8 – 9 months, he had no answer. In the meantime, I learned that our insurance would not pay the bills that were accruing because even though our insurance company told us the group was a participating provider, the particular doctor we were seeing did not have a Pennsylvania license, so he was not a preferred provider. When we finally learned all this, we spoke with him and explained what had happened. He called the billing office and told them to cancel all his bills for us! He also said that unfortunately, from that point on we would need to see one of the other doctors who would be covered by insurance. He also asked if my insurance would cover an MRI, and when he learned that it would, gave us a prescription to have it done at CHOP in Philadelphia.
The day we were scheduled it snowed and I tried to convince my husband that we shouldn’t go since it was an hour drive. Looking back, I wonder if maybe I had an inkling that I didn’t really want to know what they would learn. My husband’s comment was “We have to go sometime, so we might as well go and get it over with”, so we did. Putting in the IV for the sedation was a problem, and they had to give Meredith the greatest dose allowed for her size. It was difficult to get her to calm down and let the medication take hold. Finally she settled, the MRI was done, and we went home. She slept most of the rest of the day.
A few days later I was called out of class to take a phone call. My fifth grade students were working with their kindergarten partners so I was able to leave immediately. It was 9:30 AM. The results were in. “I have good news and bad news,” the doctor said. “The good news is that it isn’t one of the biggies – cancer, a tumor, a stroke or the like. The bad news is that they don’t really know what it is. The doctor who read the MRI is world-renowned and has read thousands of them, and he has never seen anything like it. I’ve been speaking with a metabolic specialist there who wants to see you and Meredith. Call them and make an appointment.” I don’t think it sank in immediately. I went back to class and taught for another two hours or so until it was lunch time. I got the kids to lunch and lost it as I was walking through the cafeteria. The rest of the day was spent in a private office crying.
I picked up all of my own kids after school, got them home and settled, and somehow managed to get something together for dinner. I still had not told my husband or the boys. I ate very little and finally broke down while trying to tell them.
A month or so later we had our first visit with the metabolic specialist at CHOP. At that time, the disorder was still not identified. Mer was thoroughly examined and her file was started. Blood was drawn I believe, and a mass spec was done on her urine. After all the information was gathered, it was sent out over the Internet to see if anyone could give the symptoms a name. Within a few more weeks we were back to discuss the effects of L-2 Hydroxyglutaric aciduria. Meredith was approximately the fourteenth reported case in the world. I think we figured out that at that time, the chance of getting a child with the disorder was 1 in 330 million.
We didn’t learn much – there wasn’t much to learn. It is described as a chronic progressive neurodegenerative disorder. Symptoms might include seizures (we’ve been fortunate-so far she hasn’t had any), intention tremors, truncal ataxia, hypotonia, disarthria and developmental delays. There is no treatment or cure. No one even seemed to know what role that particular chemical plays in human metabolism. So what can we do? Nothing. Any support groups? Not much really. I remember going online and being unable to find anything that even had the disorder’s name in it. We were really one in a-no-one in 330 - million!
It took a long time for me to get over that hump. So many things ran through my mind – my only little girl, what was going to happen to her, who would take care of her, why us, why her, how could I stand watching her go downhill, and on and on. Many mornings I would wake up crying, drive home crying, and go to bed crying. I really sank into a depression that lasted about a year and a half.
The gap continued to grow as Meredith got older. She went to kindergarten and stayed in a regular education setting. She also remained at the childcare facility with regular ed peers. At the beginning of first grade, she went into a self-contained learning support room for the better part of her school day, but was still included in a homeroom and in classes such as art, music, and physical education. Her years in elementary school all followed this pattern, and things went pretty smoothly. She continued to get all her services during the school day, she was learning to read, write and do math, and she was participating in activities such as chorus. She even tried learning to play the clarinet the year she was in 5th grade, and could play a tune or two. Of course it helped that her three brothers all had had the instrumental teacher, so he knew the whole family and knew I wasn’t expecting miracles.
Meredith has always been a very social child. She will talk to anyone and laughs and giggles all the time. She enjoys being around people and participating in all kinds of activities. She has been taking therapeutic horseback riding lessons for over seven years, and has competed in the PA State Special Olympic Games two or three years. She has also competed at Thorncroft, which is the Handicapped Riders Event of the Devon Horse Show. Other kids who ride at her barn have done well enough to actually ride at Devon in their special events. She has taken swimming lessons for years and just recently got over her fear of deep water, so now she is swimming lengths of the pool at our local Variety Club, practicing for Special Olympics swimming. Her stroke and breathing continue to show improvement. She also gets aquatic therapy and has learned to use scuba diving equipment in the pool. The past three years she has attended 4-H Horse Club and has ridden in some of their shows. The first year she rode she qualified for the regional competition. This year she was nominated to help with the Sunshine Committee.
At present Meredith attends the local junior high school. She is still working on learning reading comprehension skills and higher level math skills such as fraction work. She enjoys school and hates to miss it. Along with the normal classes, she receives some speech therapy (after a bit of a hassle) and adapted phys ed. Next year we have the option of having her move to the high school or remain where she is one more year. Her preference is to move, but I am not sure it is in her best interest just yet.
During the school year we are very active in the band parents group (her 18 year old brother was the drum major this year), and Meredith has her role as banner carrier when we go to competitions. She has also been known to help push equipment on and off the field.
Much of the summer she goes to camp at the Variety Club, which conducts a six hour day camp. She gets to see her friends, exercise, and work on more skills. Last summer her brother was in a drum corps, so we drove from Pennsylvania to Denver, Colorado, and helped cook and run errands for the corps. Meredith was right in there with them. She sat with the kids during meals, helped prepare some of the food and do some clean up, she played games with them when they finally got a break, and once again, helped push equipment on and off the field once in a while.
Overall her condition has remained relatively stable. We go to two different metabolic doctors for yearly check-ups, and both feel she is either stable or even somewhat improved (actually, she was seen several times by Dr. Venditti while he was at CHOP). We also see a neurologist, who is in agreement about her stable condition. The biggest hurdles we have had are the development of scoliosis and some minor complaints about sore knees, so we see an orthopedic specialist every 4-6 months. Her general health is good; she is rarely ill. We do make sure that she gets a flu shot each year, and most years we get one also. Since being diagnosed, she has had three or four MRIs and no significant changes have been noted. For the time being, she is allowed to eat anything. That may change as more is learned about the disorder.
Over the past two to three years she participated in a study about ataxia. We took her to the gait lab at Kennedy-Krieger in Baltimore every 6-9 months. The results from those tests actually showed minimal improvement in her steadiness. We have also been able to meet and speak with Dr. Peter Barth and Dr. Ron Wanders on some of our visits to Baltimore, and it was through Dr. Barth that I learned about the research going on involving Dr. Topcu from Turkey. She has been kind enough to email me and update me on the ongoing research regarding the identification of the gene for L-2 HGA.
Obviously having Meredith has changed our lives considerably. All of us have had to learn to be more patient and to overlook minor things that really are not important. We are fortunate in many ways that I am sure other people may not think about. Meredith is very functional and can do many things independently. She wants to learn and tries new things all the time. As Dr. Barth said to us one time we met in Baltimore and I was sharing all the things that Meredith was doing – “Perhaps we shouldn’t call it a disorder”.
Bob & Dottie
From the Winter 2009 OAA Newsletter