Dr. Appointment

Today Taye saw his endocrinologist who keeps tabs on his CAH. Just a quick visit checking his weight and height, and ordered his labs.. (UGHH) We'll save that for our fave phlebotomist at Seattle Children's, Hector. One of these times he's going to see us in the waiting room and run the other direction LOL! Taysen screams louder than any human being and that's no joke
...waiting patiently at the fish tank

He weighed in at approximatly 40 pounds (50%) and i forget his height, but it was 70%.. Dr. S would prefer his weight to be down a bit, but he is on the right track, growing but not gaining too much.
On the way home, he talked me into an italian soda. I swear these kids can sniff out my exhaustion and need for coffee a mile away. Would you believe he has actually said to me "mom, you look tired, let's swing through Starbucks!"

Lions and Tigers and Bears-oh my!

We headed to Woodland Zoo with TJ's family for the weekend.. The kids all had a great time looking at all the animals, eating pizza, and choosing some toys at Toys'R Us. Taysen also got a chance to show off his mad swimming skills at the hotel.

The boys with all their cousins....

River rocking out....

Picture time!

I wanted to share some pictures from Taye's 5 year and River's 3 year session a few weeks ago. Can't hardly believe my munchkins are growing up so fast.. so sad. I was watching River run around in his tight lil' jammies last night imagining him as a teenager. Scared me bad! LOL! Pictures by Brea Bateman Photography, Thanks Brea!

Jackson in Action

...check it out!

Heat Wave

We got some beautiful warm weather this week in Washington!! The kids stayed cool swimming in the little pool. Taysen ate a record amount of popscicles and discovered his new love, the fudgesicle, which he calls "tricycle" Taysen loves "the beautiful sunshine" but he is a lot weaker with the heat.. even taking naps every day this week.

Taysen loves to give the command "watch" to Jackson. sometimes he forgets the command and says "look into my eyes" LOL!

We were doing sidewalk chalk and when I drew a picture of River aka "monkey" he said "make sure you draw my fuzzy hair and my chubby little legs!"

River is potty training this weekend... don't ask me why he insisted on wearing his cowboy hat and boots. Needless to day all nutrition has been thrown out the window. Both River and Taysen are enjoying their smorgasborg of candy, chocolate, gummies, donuts, pepsi etc. etc. you get the picture!

Jackson spent much of the week napping in the shade. He came to Taysen's physical therapy this week and was an absolute gem! He laid right by Taysen during his stretches so Taye could pet him and distract him from the stretching.

Taysen can swim all by himself!

Here's our man, Taysen swimming in his therapy pool.... he also does a little singing "1 2 3 like a bird I sing" his long time favorite Tim McGraw song.

What is SMA?

Spinal Muscular Atrophy (SMA) is a motor neuron disease. The motor neurons affect the voluntary muscles that are used for activities such as crawling, walking, head & neck control, and swallowing. It is a relatively common "rare disorder": approximately 1 in 6000 babies born are affected, & about 1 in 30 people are genetic carriers. Each child born to carriers has a 25% chance of having SMA, 50% carriers, 25% uneffected. SMA affects muscles throughout the body, although the proximal muscles (those closest to the trunk of one’s body - i.e. shoulders, hips, & back) are often most severely affected. Weakness in the legs is generally greater than in the arms. Sometimes feeding & swallowing can be affected. Involvement of respiratory muscles (muscles involved in breathing & coughing) can lead to an increased tendency for pneumonia & other lung problems. Intellectual activity is normal and it is often observed that patients with SMA are unusually bright & sociable.

What are the symptoms of spinal muscular atrophy?
Spinal muscular atrophy is sometimes difficult to diagnose, as symptoms can resemble other conditions or medical problems. Each child may experience symptoms differently. There are several types of spinal muscular atrophy based on symptoms and age of onset.

Type I (Werdnig-Hoffman)
This is the most severe type of SMA, and unfortunately, the most common. Symptoms may be present at birth or develop within the first few weeks or months after birth. Infants have difficulty holding up their head, sucking, feeding, swallowing, and often move very little. The legs are more severely affected than the arms. The muscles of the chest which help to expand the lungs are affected, and the chest may appear small or "bell-shaped". They have a weak cough, and are prone to respiratory infections. The tongue may demonstrate "worm-like" movements, and they may demonstrate a tendency to choke while feeding. Complications from breathing problems often lead to death or dependence on some form of respiratory support by 2 to 3 years of age.

Type II (intermediate form)
This form of SMA most commonly becomes evident in children between 6 months to 2 years of age. They may show delays in acquiring motor skills such as rolling, sitting or crawling. They are unable to walk independently without support. They typically have generalized muscle weakness and may require braces, walkers, or a wheelchair for assistance. Life-expectancy varies greatly in this group of children, since they demonstrate a very wide range in degree of weakness. However, complications commonly include weakness of chest muscles involved in breathing, resulting in a weak cough and tendency for pneumonia. Scoliosis develops in virtually all children at some point, and they are prone to bone fractures. Children who are unable to bear weight often develop hip dislocation. Contractures of the muscles and joints can limit function over time. Children in this group may also demonstrate difficulties in swallowing and chewing, and require close monitoring of nutrition. Lifespan in this group depends on the severity of respiratory muscle weakness, but many children survive well into adulthood.

Type III (Kugelberg-Welander)
This form of SMA most commonly becomes evident in children between 2 and 17 years of age. These children may show delays in motor development, difficulty walking, trouble getting up from the floor, mild muscle weakness, and frequent falls. Fatigue can be a significant problem, which limits the ability to walk long distances. A tremor involving the hands is common. Scoliosis is frequent in later childhood. Respiratory muscle involvement is much less often a problem, and difficulty swallowing is rare.

Type IV
This form of SMA includes those individuals who don't develop symptoms of weakness until they reach adulthood. Usually, this results in muscle weakness predominantly affecting the legs, and manifests as a walking disability. The symptoms of spinal muscular atrophy may resemble other problems or medical conditions, and can be confused with other muscle or nerve conditions, including muscular dystrophy, myopathy, other spinal muscular atrophy variants or even forms of amyotrophic lateral sclerosis (ALS). Another closely related condition, known as spinobulbar muscular atrophy (Kennedy's disease), can also present in late childhood or adulthood.

In The Beginning...(Taysen's story)

My beautiful firstborn son was born on July 15, 2004. Taysen was absolutley perfect and I fell in love with him the moment I laid eyes on him, I remember I would just hold him and stare at him for hours! He didn't get much use out of his crib those first few months because I never put him down.

Everything was going well at home when I got a phone call from his Doctor when Taye was one week old. One of the PKU tests they did at the hospital came back abnormal and we needed to go to the hospital to have it redone. After talking on the phone with a Dr. at Seattle Children's Hospital, we decided it would be best to bring him there. The endocrinologist we saw that night was fairly certain that Taysen had an adrenal insufficiency called Congenital Adrenal Hyperplasia or CAH. The blood test later confirmed that he did in fact have CAH and the most severe form, salt wasting CAH where his adrenal glands do not produce the fight or flight hormone aka cortisol. He spent one night in the ICU and one night on the floor when he was only one week old. I never thought I would ever see my child with IV's and monitors everywhere, even though I knew his CAH could be managed with medication, it was a very scary time for me learning all about the medications and what could go wrong. Taysen is followed by a pediatric endocrinologist very closely and is doing well. He takes medication 3 times a day EVERY day for the the rest of his life.

When Taye-Taye was about 6 months old, he started sitting up. He would tip over very easily and sit in a slouched position. If he fell over, he could not get back into sitting. He was able to roll around, but had difficulties with tummy time and was not able to put much weight on his legs when we held him in a standing position. By the time he was one, he was not making any progress despite 2 months of Physical Therapy. He was not crawling or standing at all, but could roll all over the house! We saw a neurologist when he was about 15 months old and she did not seem concerned at all. She did a CPK and hip xrays which were normal and told us to come back in a year. Months went on and still there was no change. We saw a geneticist at 18 months who ran some other tests all were normal. When Taysen was 18 months old he was speaking in full sentences, yet his motor skills had not improved at all. I began doing my own research and as soon as I saw the website for Spinal Muscular Atrophy, I was overcome with a feeling of dread and I knew that was what he had. Almost everything matched with type 2 SMA. I called the neuro and and also the geneticist and both felt that since he had been so healthy, and since he ALREADY had a rare genetic disease it would be extremley unlikley that he had SMA.

Meanwhile I read everything I could get my hands on so I could prepare myself. When Taysen was 2 we saw the neurologist again who proceeded to tell me I should not look on the computer and it was time for a muscle biopsy. I specifically remember asking her "why do you NOT think he has SMA" I said we are not doing a biopsy until the SMA test is run and sure enough one week later she called me with the results of the test. Taysen was 2 years old. Even though I knew, it was still the most devastating day in my life. I could not and will not imagine life without my beautiful son. I became desperate to get him on a new drug, but nobody would prescribe it for him because it was experimental. In May 2007 we drove to Salt Lake City, Utah to see the most amazing Dr. we have ever met, Dr. Kathryn Swoboda. We recieved so much proactive and detailed information on SMA.

Taysen began taking valproic acid and carnitine at this time and we believe it is slowing down the progression of SMA. in fact, his last EMG actually showed new nerve growth. In March he began taking liquid Albuterol and has gained a couple new skills since adding that drug to the mix. Taysen does lots of therapy including swimming in his therapy pool, riding his pony, standing in the stander, stretching, wearing braces and using his cough assist and bipap to be as proactive as we can. We are blessed beyond words with this amazing little boy and are so thankful that God has trusted us to be his parents.

"My grace is sufficient for you, for my power is made perfect in weakness" 2 Corinthians 12:9