The Most Common Rare Syndrome You've Never Heard Of

Friday, March 27, 2015

Twins--and Then Colton by Amanda Brown

We were done. We had 18 month old twins and we had been assured that we would never conceive on our own. We were okay with that. We had made the decision to "chance it." We understood that it was highly unlikely that it would ever happen but we wanted to just let God make that decision for us. I took my last pill on 10/31. I took a pregnancy test on 12/11 and found out that our fighter was on the way. What a welcomed surprise!

We had no intention of finding out if the baby was a boy or a girl. We wanted to wait and find out when he/she arrived. But just like before, this was going to be done how Colton wanted it to be done. At my 18 week ultrasound, as she put the probe on my growing belly there it was....his boy parts displayed for all in the room to see. She knew that we didn't want to know, however this was all little man's doing. It was also at this ultrasound that we found out that he had a thickened neuchal fold. She told us that more than likely he would have Down Syndrome, or a sever heart defect. I didn't believe her. We had the amniocentesis only to find out that it was not Downs. They did a fetal echo and told me it was normal, and fluid on one his kidneys but it was within normal by the recheck. At 32 weeks I was told there was nothing wrong with the baby and was sent out to enjoy the rest of my pregnancy.

I am a critical care nurse, so I like to think that I have it together about the human body. But when this guy was born I was oblivious to the problems. The day after he was born the pediatrician noticed he had low set ears, a wide nasal fold, wide nipples,one undescended testical, and a heart murmur. She told me she thought he had this genetic disorder called Noonans Syndrome. 

I thought the pediatrician was crazy. I've been a nurse for 10 years and have never heard of that, and besides my baby didn't have all those things she saw....did he?

Fast forward 4 months and a failure to thrive diagnosis. What does that mean anyway? He eats fine, sleeps fine, etc. Once again they must be crazy. I told them they could do their little genetic testing but we also need to get back to the basics. Maybe he was just allergic to milk.  Testing revealed he was. I cut all dairy out of my diet, and still he didn't grow. Hmmm maybe they were on to something after all, and its just me that couldn't  see it? Eight weeks later genetic testing confirmed PTPN11. Finally a reason for all the "issues"-- we can move forward and fix them.

He had myeloproliferative disease that resolved at 11 months. The fluid on his kidney that resolved at birth. He never ate a lot but we were able to skate around a feeding tube somehow. (I think he went an entire year only eating green greek yogurt, chocolate donuts and whole chocolate milk! But hey calories are calories right?) He had a 6mm VSD at birth that resolved, a 8mm ASD that had closed to a 3mm PFO. However last Cardiology check said it was now two ASD's with one being 8.9mm and one at 6.8mm, so we will have to fix that eventually. His pulmonary valve is just now stenotic, so they will fix that at the same time. (He needs to be 50lbs, which he may never hit).

We started on GHT at 18 months old. I have never regretted this decision. My theory is that when it comes to growth there are no take backs. You can't take back the years of delayed growth, and I didn't want him coming to me at 14 years old asking me why I didn't start sooner. However, in the same instance, if he comes to me at 14 and decides to stop then that is his decision, and Ill be ok with that.

He is our 'funny guy"! He keeps us on our toes, and is the jokester of our family. He really is the perfect addition to our duo. While I would not change anything about him, I am glad he was our little "surprise" in every way. I can honestly say I never expected this.......

Friday, January 2, 2015

Landen, The Lion Heart

On December 15th, 2014 Tammy Bowers' innovation was highlighted on Beehive Startups web page.  The following is a summary of that interview.
Just after Landen was born, his father, Joe Bowers, raced to the hospital gift shop, quickly purchased a stuffed lion, and hurried back to the delivery room to place it on the side of his newborn son’s bed. Time was precious. Every second mattered.
Landen was born with LEOPARD syndrome, a RASopathy — a rare genetic disorder with significant cardiac abnormalities, severe hypertrophic cardiomyopathy being the most common. Landen’s doctors didn’t give him much of a chance.
When we were taking him home from the NICU after nine weeks of being there, the cardiologist said, "I just want you to know that he’s not going to make it to his first birthday."  Tammy didn't want to take him home only to wake up one morning to find him dead. The cardiologist responded by saying, “Well, there’s nothing that anyone’s going to be able to do. It’s going to be quick.” Tammy and her husband were given two choices: enjoy what little time we had left, or  hope for a heart transplant.

Tammy Bowers is a believer, even when when hopelessness abounds.
Tammy Bowers believes in long shots.
Landen stayed in the hospital for four weeks while his parents stayed by his bedside, praying for a miracle. As he approached his fourth weekend in the NICU, Landen’s doctors said, come Monday, it was time for the Bowers to go home.

That weekend, in Iowa, a little girl’s heart stopped beating. Although baby Claire passed away, doctors rushed to resuscitate her heart, hoping to use it to save another child’s life.
A heart that has stopped beating and needs to be resuscitated is considered to be “high-risk” for heart transplants. 17 families turned down Claire’s tiny Iowa heart before it finally made its way to Landen Bowers — just a day before he was supposed to go home.
“It ended up being the most absolute perfect heart for him,” said Tammy.
When the heart first arrived, Claire’s family sent along a gift for Landen--a stuffed lamb that had been in her bed. It matched Landen’s lion perfectly. They also received pictures of her holding that lamb. It was just such beautiful symbolism.
Before Landen was born, Tammy went to college and earned a degree in early childhood development. Starting a company was never part of the plan, but she feels like this is what she should be doing.
As soon as her life began to revolve around regular hospital visits and consultations, Tammy was thinking of ways she could help empower caregivers like herself.
“A huge part of the medical industry is placed on the caregivers,” said Tammy. “Everything that doctors rely upon is what we give them.”
LionHeart was created by Tammy to provide the right tools and the right information to help caregivers take charge of their medical information, and to ensure doctors receive accurate information in order to make a proper diagnosis.

You can find Landen at 1 Million Cups Provo most weeks; right next to his mom — full of energy, full of life. You wouldn’t know it from spending time with him, but Landen’s battle for survival continues to this day.
“Heart transplants don’t last forever,” said Tammy. “They say a new heart will only last anywhere from five to 15 years. Transplants are just the start. It’s a trade. You’re trading one disease for the other.
“Every day we have with our son is a borrowed day. Statistically we have a 50/50 chance of him celebrating his 10th birthday.”
LionHeart is more than just a startup to Tammy. It’s a rallying cry in a battle she refuses to lose.
“I am going to fight, and do everything I possibly can to have one more day with my son,” said Tammy. “To have a tool that can help with that is really important.”