When Brian and I decided to have another baby, we were hoping that we wouldn't have one in November (so many family birthdays), December (holiday), or January (recovering from birthdays and holidays). Well, in June of 2004 we discovered that we were expecting a baby girl, due February 7! We were so happy, and Harrison especially was looking forward to the arrival of his new baby sister.
After a perfectly healthy pregnancy, our Autumn was born at a freestanding birth center with the help of midwives. She came into this world without drugs in a jacuzzi tub, and into her Daddy's arms. Autumn was a strapping 8 pounds, 2 ounces, and 21 inches long. She was perfect in every way, and we all loved her from the moment that we saw her.
When Autumn was 9 months old, her pediatrician referred us to physical therapy, as she was not meeting the expected milestones for a baby her age, and had very low muscle tone. She began physical therapy which focused on stretching, supported standing, and balancing while seated. It did seem to help a bit, but at her 12 month well-baby checkup, Autumn still could not stand, crawl, or put herself into a seated position. Dr. Dagnew then referred us to the Michigan Institute for Neurological Disorders (the MIND clinic) for further evaluation.
At the MIND clinic, we met Drs. Finkle and McCormick. They performed an EMG and nerve conduction. They diagnosed Autumn with a form of muscular dystrophy called Spinal Muscular Atrophy, type II on March 1, 2006. We scheduled a DNA test to confirm the results, and received that confirmation in early April. This obviously was not what we expected! There is no history of genetic diseases in our family (that we know of), and Autumn's brother who is 4 1/2 years older is perfectly healthy.
Brian and I put our noses to the grindstone and tried to find out everything that we could about this disease. Autumn showed very typical characteristics of a person with SMA type II, and all of the reading and research that we did was similar. It is nice to know that this is one diagnosis that doesn't have a wide variety of treatments to choose from--all of the doctors, specialists, therapists, etc. were pretty much on the same page, and gave us the same information on how to best cope with a diagnosis of SMA.
Now that we had a diagnosis, it was time to take some action. I bookmarked all of the websites that I could find that pertained to SMA and muscular dystrophy. Brian and I took the kids to Applebees' Breakfast with the Easter Bunny to support the Muscular Dystrophy Association (MDA), and the MDA's Expo and Bunny Blast. I signed up with a chat group online, and began talking to and emailing people who were also going through the same things that we were. It was still very hard to believe that our daughter had this horrible disease, but I have since discovered that horrible things often bring out the best in people, and was glad to be surrounded by such wonderful individuals who brought to us a wealth of knowledge and support.
Autumn's initial IEP (individualized education plan) took place on May 3, 2006. Miss Amy and Miss Jeannine came out to our house to evaluate Autumn to determine which special education services would best suit her needs. Of course Autumn was a little ham, and had so much fun playing with her new friends! When we received the report back, we were absolutely amazed at what Autumn could do. At just over a year old, Autumn was testing far above same-age peers in every area except for gross motor. In some areas such as personal-social and fine motor skills, she tested at the level of a two-year old. Jeannine and Amy told us that we should absolutely expect her to excel in school. That made us cry! We were so happy to finally hear something terrific after all of this horrible news!
The next week, we had our first appointment at the muscular dystrophy clinic in Farmington Hills. We met so many wonderful people who made us feel as though we actually had hope for the future, and could love and raise Autumn in much the same way as we would any other child. Autumn of course viewed this appointment as she does any other--as playtime! Dr. McCormick asked us about her current physical abilities, and as we were talking, Autumn rolled over and began pulling papers out of the folders that the doctor thought were out of her reach. Autumn was also briefly seen by a pulmonologist, who determined that she was doing excellent so far, but would need further testing in the next six months. David from Binson's ordered a Giraffe standing frame for her, and Julie & Maggie gave us a big thick folder to guide us through the process of enrolling her in a special education program. They assured Brian and I that we were doing everything that we could, and said that they would see us again in three months.
Doctor Visits and Medical Updates
Autumn at age three: Autumn was seen at MDA clinic in January. Dr. McCormick is extremely pleased at how well she is doing. The powerchair fight is OVER, and Big Blue is hers. Dr. McCormick increased the dosage of Valproic Acid to 1 mL in the morning and evening. Carnitine was increased too--3 mL in the morning and evening also. Autumn has been taking pediatric Vivonex as an oral supplement for about six months, and everyone agreed that it was keeping her healthy, helping her gain weight, and preventing the necessity of a g-tube. Dr. McCormick wrote a prescription for this, which at this time, we are fighting the insurance company to pay for.
We also paid Dr. Dagnew a visit too. Autumn ever so gently tips the scales at just under 26 pounds. She is 37+ inches long, which puts her at the 75th percentile for weight, but only 5th percentile for height. Dr. Dagnew beamed with joy, since she actually fell off of the weight chart at her two-year old visit. Now she is in the fifth percentile and gaining. Autumn's results from a recent blood draw were back as well, and everything was perfect--iron, calcium, protein--everything. It took all I had not to cry in the office. Autumn doesn't seem to have any chewing/swallowing/choking issues yet, but it takes her forever to eat, she does not seem to ever get hungry, and she isn't the most adventurous when it comes to food. Dr. Dagnew reassured us that she was doing so well, and just to keep doing what we were doing, which was supplementing a mostly grain-fruit-veggie diet with one packet of Vivonex daily in Naked Fruit juice. Her overall health has been excellent, with no pneumonias to date, which is more than we could ever expect.
Autumn had her first visit with the dentist, and did very well. She cried a bit at first, but that we just because she couldn't see her parents, not because seh was scared of what they were going to do to her! We were concerned about her teeth since she does drink so much of her juice with Vivonex, but we were reassured that her teeth were healthy and strong--NO cavities. Autumn allowed the dentist to clean her teeth with the spinning brush, and she happily left with a picture, a little baggie of goodies, and an new toothbrush!
One more doctor visit, and that one was with Dr. Toder, the pulmonary physician. This was just a follow-up, and the outcome was also good. Dr. Toder was very surprised that Autumn was able to tolerate the CoughAssist's pressures, not that they were too high, but that most children her age just do not like using that particular machine. She was shocked and pleased when we told her that Autumn used it every day, and that sometimes she actually asked for it. We're still fighting the almighty insurance company for the pulse oximeter, and Dr. Toder is doing her best to help us with that. (Guess they think that although Autumn with have SMA for life, and eventually need this machine, it is much easier for us to learn how to use it when she is sick and in the hospital, rather than healthy at home, even though it has the potential to keep her out of the hospital. That would make too much sense.)
Soon Autumn will meet with a pediatric orthopedic surgeon for an initial evaluation regarding bone density, spinal issues, and other general questions.