Mighty Meghan's Journey: December 2013

Monday, December 23, 2013

It's been a while since I've updated, but like the saying goes...no news is good news :)

There hasn't been too much going on lately. We are on a little break from doctor appointments until January. This break has been wonderful! We still don't have any news on the genetic test. Meghan is being tested for Russell Silver Syndrome which is a form of dwarfism. I had no idea, but there are over 200 different types of dwarfism! However, the geneticist doesn't feel this is something Meghan has, and to be honest, neither do I. But, it is part of the process of elimination. In January, Meghan has her dermatology and eye doctor appointments. Then, sometime in January or February, will be her ultra sound, AFP test, rapid MRI, neuro appointment, and Endocrinology appointment.

Meghan had her last therapy session for 2013 last Wednesday. She is now done with therapy until January 16th. She continues to work very hard on all of her goals. She has MASTERED simple sorting (i.e. sorting cows vs. pigs)!!! She also recently mastered identifying all items she was asked to identify from her therapists!! This is a great indication that she is very receptive cognitively (she understands what is being told to her), which we already knew! Her therapists check her receptive skills every couple of months to make sure there is no regression, which can sometimes happen with kids with neurological conditions. She is working so very hard on expressive language (saying words). She has added 2 new words to her vocabulary - yeah and ice. I know I am a little biased, but she has the sweetest sounding "yeah." She continues to expand her sign language. Some goals she is still working on: running, jumping, going down an entire flight of stairs unassisted (and going back up), dressing and undressing, using a fork to stab food, climbing onto furniture, standing on one foot. I love her therapists as they understand Meghan responds best to praise (and lots of it). This gets Meghan's determination going while working on a goal. We are so proud of Meghan with every accomplishment and every time she works on a goal. She's very determined and she will one day master every single goal!

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This blog has been created to keep friends and family updated on the medical journeys we embark upon with Meghan. We will share updates on doctor appointments, therapy sessions, how Meghan's life is affected and how life as a family is affected. Please Note: The medical information on this blog are from our experiences and should not be substituted for diagnosis, treatment or medical guidance. Always seek medical advice from your doctor.

When Meghan was 9 months old, she was diagnosed with Hydrocephalus (secondary to Aqueductal stenosis) and Chiari Malformation - both are incurable brain conditions.

At 13 months, Meghan was diagnosed with Syringomyelia throughout her spinal cord.At 22 months, Meghan was diagnosed with Hemihypertrophy of the entire right side of her body with a secondary limb length difference involving her legs, and Grade 2 Hydronephrosis of her right kidney.

Other diagnoses Meghan has are: failure to thrive, macrocephaly, global developmental delays, apraxia of speech, hypotonia, syndactyly, degenerative disk disease, growth hormone deficiency.

Hydrocephalus - Cerebral spinal fluid (CSF) surrounds and protects the brain and spinal cord. Hydrocephalus occurs when there is an abnormal accumulation of CSF within the ventricles of the brain. As CSF builds up, it causes the ventricles to enlarge and can increase pressure within the brain. There is no known way to prevent or cure hydrocephalus. Hydrocephalus is treated surgically by the insertion of a shunt. A shunt is a flexible tube that diverts the flow of CSF from the head into another region (most commonly the abdominal area) of the body where it can be absorbed. Shunts commonly include valves to regulate CSF flow based on pressure and/or body position. If left untreated, hydrocephalus is usually fatal.

Chiari Malformation (CM) - A serious neurological disorder where the bottom part of the brain, the cerebellum, descends out of the bottom of the skull toward the spinal cord, putting pressure on the brain, skull and spine.

Syringomyelia (SM) - A chronic disorder involving the spinal cord. The condition occurs when cerebral spinal fluid (normally found outside of the spinal cord and brain) enters the interior of the spinal cord, forming a cavity known as a syrinx. This syrinx often expands and elongates over time, destroying the center of the spinal cord. As the nerve fibers inside the spinal cord are damaged, a wide variety of symptoms can occur, depending upon the size and location of the syrinx.

Hemihypertrophy - A condition in which one side of the body, or a part of one side, is larger in size than the other. Children with hemihypertrophy have an increased risk of developing certain types of cancer, including Wilms tumor (a childhood kidney cancer) and liver cancer. Children with hemihypertrophy may also develop scoliosis. For those that have a secondary limb length difference, there are two main surgical options, shortening and lengthening. Epiphysiodesis, which involves removing part of the growth plate of the longer leg, allowing the shorter leg to "catch up", is performed on patients still able to grow. Bone resection is performed on patients who have no growth left and involves removing part of the bone. Leg lengthening procedures are more painful, involving the insertion of pins to be turned, moving parts of the bone apart. This process is reserved mainly for patients with a discrepancy greater than 4 cm, although some leg lengthening procedures are now done cosmetically. Non-surgical options include attachment of a lift to the shoe, allowing the patient to walk normally.

Hydronephrosis - aka water in the kidney - is swelling (dilation) of the urine-collecting structures of one or both kidneys due to obstruction of urine flow from the kidney. This can impair kidney function. If left untreated, this condition will progress to kidney failure.