Monday, January 19, 2009

All four boys had a great weekend this weekend.  My sister came into town to visit and my nephew Nick came up from Ft. Hood to spend the weekend here.  It was so nice to see Nick, we hadn't seen him since he left for Iraq 15 months ago.  The babies went to their first party on Saturday!  Between the bounce house, the snacks, and all the friends under the age of 5, our four boys had a rockin' good time.  Then on Sunday, Ben and Alex went to another party for their school friend's birthday.  So they were hungover from candy, cake and soda.  Ah... to be a kid again!

Today Dorian had a big day. We took him for his follow-up Barium Swallow Test at the hospital's radiology department to see if he was still aspirating or not.  If his aspirating was as bad as it was when he was in the NICU, he would have had to get a feeding tube surgically implanted into his tummy.  But when he did the swallow test, only a small amount of liquid was going down his wind pipe.  So for now, no need for surgery.  Yay!!  We will begin to thicken his formula with a thickening gel since he swallowed much better with it that way at today's test.  We're now able to offer him a bottle at every feeding and then tube feed the rest.  In 2-3 months we'll get him tested again to see if we can get completely rid of his temporary tube.  Wish us luck!  We were so proud of him. 

Last week we met with our pediatric geneticist, Dr. Cramer.  She noticed that Dorian's liver is already beginning to become enlarged (typical with children with storage disorders), but it's nothing to be treated or concerned about at this point.  We spent some good quality time with her in looking at what the picture is going to look like for Dorian and Wynn.   She trained with some of the pioneering genetics experts in her field, so she offers us a great perspective.  We can see that she is truly dedicated to treating children and is passionate about her specialty.  

Being that alot of these ML II issues will become prevalent near the 6 month mark, we will be busy with many doctor visits around that timeframe.  We have been referred to an orthopedic doctor that has had experience treating kids with storage disorders, so it'll be good to have a proactive doctor to help us treat the babies' bone & joint issues.  In the meantime, we have established treatment at Scottish Rite Hospital for joint and mobility limitations the boys have with their hands.  Throughout most of the day they wear splints on their hands, which makes them look like they are wearing miniature boxing gloves.  So their new nicknames during splint time is  Wynn "Boom Boom" Johnson, and Dorian "el Macho" Johnson.   This week we will begin our physical therapy house calls done by an agency our neonatologist connected us with when the babies were discharged from the hospital.  That'll be nice to have them come to us -- very convenient.  

We also will be visiting a cardiologist within the next 1-2 months to have the boys looked at and ensure that their slight murmurs have stayed a non-issue.  Dr. Schiffmann, our neurometabolic specialist, is our quarterback for all of this.  He is one of very few doctors in the country that actually has experience treating this disease and we are very fortunate that he moved to Dallas recently and set up a practice here.   He did the majority of his specialty training at Duke and furthered his research & practice with the National Institute of Health (the NIH).   When we visited him last month, we noticed that he is focused on this family of disorders since he has had experience with seeing these cases from as far back as his days of residency.   We have faith that he'll be able to keep us on track on what we need to be looking at, and what actions and treatments are best for the babies.  

We are very happy at the level of care the babies have received from the time they were in the NICU at Medical City to our team of specialists we now have all on speed dial.  Everyone has been wonderfully compassionate and professionally passionate about helping us give our babies the best life possible.

When we picked up the big boys from preschool today, Ben and Alex brought in their coloring projects they did of Dr. Martin Luther King, Jr.  I asked them "who is this guy?" and Alex said "He was president."
"What did he do?"  I asked.  
"He said it was good for Red, White and Blue to be together."
So then I turned to Ben and his response to what Dr. King did was "He was nice and he wanted everyone to have fun."
So even though the boys didn't know all the answers about Dr. King, they both knew what his legacy was about in their own minds.  It's kinda like us -- we may not know exactly everything about this complex disease -- but we know the overall picture.  One thing is for sure- the best part of this picture is having two beautiful babies that are beginning to coo and that have their big brothers wrapped around their little fingers.   

Thanks to all our friends that have welcomed Ben and Alex on play dates while Chris and I are busy at the hospital & doctor visits with the babies, to those that have brought us dinners and gifts for the babies, and to those who continue to pray for us.   We are truly blessed with our strong support system.  

Friday, January 9, 2009

Hello to all our friends and family reading our first entry!  It took me a while to think of the blog title name, but the journey we have ahead for Dorian and Wynn will be just that-- an adventure.  If you were to look at them and hold them, you'd never know that they have an extremely rare terminal disease.  

Around Thanksgiving, after a month of being in the NICU, our neonatologist warned us that she thought all their symptoms looked consistent with a very rare genetic disease called Mucolipidosis II.  When she gave us the information about the disease, she was clear to say that IF the babies had ML II, that it would "change your life forever" since most kids with ML II do not live much past their 5th birthday.  So for the next 3-4 weeks, Chris researched everything he possibly could on diseases that had the same symptoms the babies had -- but we kept on praying and hoping that it would be something else.  In fact, we were thinking so optimistically, we had basically dismissed the ML II warning from our doctor because we were confident that the babies would be ok -- maybe just have some mobility constraints due to their bone deformities found in early x-rays.  One month later, our neonatologist finally confirmed what we didn't want to hear -- that indeed the babies had ML II.  The diagnosis had finally been confirmed by a blood serum test, and followed up by a genetic test, both tests sent to genetic specialists on opposite sides of the country.  So yes, we are sure they have ML II, and yes, we have gotten a second opinion.  

Of course, hearing that your baby that you love and have prayed and hoped for has a terminal illness has been an incredible blow to us.  They are so sweet, so lovable and so cuddly, that it seems unreal that their lives will be cut short.  It's been a whirlwind of emotions for both of us -- it's unfair, it's sad, it's angering -- but it's a reality that we are getting our heads around.  

To explain it in laymen's terms, ML II (also known as I-Cell Disease) inhibits the body's cells from recycling substances throughout the body, so the cells begin to accumulate the excess carbohydrates and enzymes and fail to function properly.  Most babies get diagnosed after their 6th month of life because by then the symptoms have begun to become evident.  To our advantage, our doctors at Trinity Medical Center and Medical City here in the Dallas area knew from the day they were born that Dorian and Wynn were not normal.  The likelihood that a child is born with ML II is 2 in 1 million births.  Hence, most general practice and pediatric doctors can practice medicine for 30+ years and never hear of this condition, let alone treat a child with this illness.  

Some of the affects of this disease is limited mobility, bone and joint dysplasia, hearing problems, ear infections, pulmonary problems, cardiac problems and pyscho-motor delays.   Although there is no crystal ball to tell us how severe Dorian and Wynn's symptoms will be and which ones they will have -- the prognosis is basically still the same.  With no cure in sight and with little to no clinical trials and studies currently underway, we are not hanging our hopes on a miracle cure.  We are resolved to continue loving these babies as much as possible -- not dwelling on the the difficult road they will have ahead, but celebrating the blessing we have in them.  We have promised each other to give them as happy and full a life as possible, no matter how short it might be. 

Ben and Alex have proven to be loving and attentive big brothers.  They have no idea that anything is "wrong" with their twin baby brothers.  Since B&A are not even 5 yrs old yet, we are not ready to tell them about this disease and what it will mean in the future to them and to their little brothers.  We figure those will be discussions we'll have in the future once Dorian and Wynn's health begin to fail.  But for now, we are a regular family just hoping for the best.  

We appreciate all the love, support and prayers that we have received from our friends and family over the past couple of months.   I started this blog for 3 reasons:

1)  Chris and I felt it was easier to update friends and family via this blog than it is to make countless phone calls to update those that have expressed their concerns for staying informed about the babies.  So feel free to check in often to this blog to get the most up-to-date information on the treatments, tales and triumphs we'll face over the next few years.  Also, it's nice to keep loved ones up to date through the blog- versus each conversation eventually going to this every time we talk with people.   Even though this heartbreaking disease has consumed our energy, we don't want it to consume our lives.  So every time you call, we may just not be in the mood to talk about it. Hence... the blog.  

2)  Years down the road, once Ben and Alex are old enough to want to know details about Dorian and Wynn and what they went through, it will be like a virtual diary they can read as often as they want.  

3)  We feel it's our responsibility to spread the awareness about this disease.  We know how painful it is to learn that your child has this, and anything we can do to give attention to this family of disorders can help other families as well.  To learn more about ML II and other lysosomal storage diseases, check out  

Although I'm a writer by trade, this blog comes straight from the heart -- sometimes it'll read like I'm rambling, other times it'll sound like I'm mad or sad.  Whatever it is -- it's our life we are living and this blog will give  you a glimpse of what we are going through.  I can't promise that I will update it weekly or even monthly, but we'll give you our highlights as often as we realistically can.   Thanks to all for being our rock solid foundation throughout all of this.  

ps- i have no freaking clue how to format pictures and videos on here, so please bare with me while I learn how to use this application.  thx!