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