MPS Run

Slawson Family Story

(Written in 2001)

Jacob was born on October 28th 1987, four weeks early. He was perfect. He had all ten fingers and all ten toes. Typical new mom and dad, we did check!

I noticed he was breathing hard. I wasn’t sure if his breathing was normal for newborns, but his apcar score was 9, so I wasn’t worried. My husband Don and best friend Teresa were by my side the whole time.

We couldn't have been happier! Don got a son (“Man child to carry on the family name”) and I got my baby boy, cute, sweet, and FUTURE DOCTOR! It’s funny how you can plan out your Childs life in just a few hours.

I was just drifting off to sleep when the phone rang. It was the NICU doctor! I don’t remember all what he said but he was saying words like, Respirator, RDS, Premature Lungs, and he was asking if I would like to see my baby, before they transferred him. I kept thinking, “4 hours ago I had a healthy baby, 2 minutes ago, I had a future doctor. Now doctors are talking about things I don’t understand. I cried for the next 4 hours, and then I called Don. He was a rock. I was a wreck!

I was discharged from the hospital 2 days after Jacob’s birth. I don’t think I can describe the pain and ache of leaving the hospital without your baby. It was as if someone ripped my heart out. I felt so empty!

For the next 10 days we lived at the hospital. I learned the “lingo”, the nurse’s names, and how to talk “shop” with the doctors, but I getting MAD! The doctors didn’t think Jacob was going to make it. He wasn’t breathing on his own and was not improving. They kept saying things like “Spend as much time as you can with him”.

I know the doctors were trying to prepare me for his death. I knew in my heart it WASN’T his time! At day 10, Jacob started breathing! The next day he was off the machines and two days later he was home! I remember thinking “God, this is the worst thing a parent could ever go through”, Boy! How wrong I was!

Life was normal for the next 3 years. Jacob had what we thought were normal preemie problems, ear infections, respiratory infections, and hernia repairs. Normal kids stuff?

On October 11th, 1991, Samantha Rachelle Slawson was born. She was perfect! Born with long hair, big blue eyes, and I think she started talking that very moment! I was so scared that she was going to have the same problems as Jacob.

I just kept watching her breath. It was normal but I still couldn’t relax. I became hysterical when Don had to leave. I remember crying, “Please don’t leave me! The doctors will call and tell me she having breathing problems!”

My poor husband! Jacob was waiting for his daddy and I’m being the biggest baby! Don finally calmed me down and assured me that she was breathing normal. I knew she was, but I was still scared!

Don left and I started thinking how lucky we were. We have a great son and a beautiful daughter. To see Don look at Sami for the first time was magical. I remember thinking “Poor baby! Her daddy will never let her date!” We couldn’t have been happier. I now have a daughter, a gymnast, NO, The First Woman President! (Here I go again, planning my babies’ life before her first feeding!). Life was perfect!

The phone rang and I look at the clock. It was exactly 4 hours after Sami’s birth. I prayed it wasn’t true! Again, it was the NICU Doctor, but this time he was talking about a hole in her mouth! “WHAT?” All I remember were the words, Cleft Palate and Surgery! I cried and cried.

The next day, I was discharged from the hospital. Again, without my baby! I wanted to scream and yell, “NO FAIR! I’M NOT LEAVING WITHOUT MY BABY!” My whole body ached for her!

Sami was doing well, but the doctors wouldn’t let her go home until she was able to eat enough to maintain her weight. It’s hard work to suck without your palate!

Again we were living at the hospital, and learning new things like cleft palates and how to feed Sami. Don and I became pro’s at feeding her. After 6 days, Sami came home for the hospital. We threw her a big party!

Two weeks later we made our first trip to children’s hospital. This was our first “Team Meeting”.

Now, a team meeting is a wonderful way for the doctors and parents to meet and discuss how best to treat a child with a cleft palate. It helps to get all the doctors on the “same page”, so to speak.

Having said that, for a new parent with a special child, it’s like the worlds Biggest Roller Coaster! You’re too dizzy to understand what they are saying, and too tired to drive home after it’s over!

At the team meeting we found out Sami had a “Special” type of cleft palate called “Pierre Robin Syndrome”. With this, comes the added joy of breathing problems. So, for Sami’s first Christmas she got an oxygen tank and apnea monitor, YEAH! She looked so cute all hooked up, and took it all in stride. As if to say, “I make this look good!”

At 8 months old, Sami had her palate repaired. What a horrible surgery! Her mouth was bloody for a week. It was not pretty! I remember thinking “It Doesn’t Get Any Worse Than This!” I was so VERY WRONG!

For the next year we lived at the pediatrician’s office. Jacob had constant infections. Sami was still on machines and was having more breathing problems. We spent so much time at children’s hospital I knew all the doctors and staff by first name. Sami stole their hearts. She was so cute with her long hair, big blue eyes and heart-stopping smile. But she was getting sicker.

Her sleep apnea was causing major problems in her little body and even on oxygen, she was turning blue. The doctors rushed her in for emergency surgery. I remember the last thing the doctor said to me was “She going to die if we don’t do surgery, and she might die if we do!” and with that, the operating room door shut! I was numb! I couldn’t even cry! It was thirty minutes later when my doctor came in with a big smile and announced, “It’s her Adenoids! They are the biggest I have ever seen! We had to take them out through her nose!” I thanked God!

Sami was in the hospital for 4 days. Every doctor that came by said, “Oh! This is the baby with the adenoids!” They took great pride in telling us how big they were. I kept thinking, “Ok, I got it! They were Big Adenoids!” It’s funny the things doctors think are cool!

Sami was still having breathing problems, but not as bad. For the first time in 8 months, I slept for more than 2 hours. Sami’s breathing improved and soon all the machines were out of the house. Jacob started school and life was getting back to normal again.

The roller coaster ride started in of all places, the family pool!

Don and I were playing with the kids and I picked up Jacob by his arms to swing him into the pool. I realized that he could not lift his arms above his head. It wasn’t that he was too weak to lift his arms. He physically was unable to due to the stiffness in his shoulders, arms, back, and, you get the point!

We spent the next year going to different doctors trying to find out what was wrong.

All the doctors we saw agreed that there was a big problem, but they were unable to fix it with surgery, and didn’t know what caused it.

One doctor told me “What ever you do don’t let him climb trees or play contact sports, because he will not bend, he will break!” I thought “OH GREAT! A new thing to worry about!”

My pediatrician recommended we see geneticists to find the cause of Jacob’s problems. She is a wonderful doctor and ran a ton of test. The “mission of finding the diagnosis” began! Every test came back negative and we were at a lost for what was causing Jacob’s problems.

The next visit to the geneticists was ONE of the worst days of my life. The doctor told me they thought Jacob had something called Emery Dryfuss Muscular Dystrophy (EDMD).

I thought “Muscular Dystrophy!” My head was spinning! I kept Thinking “Jerry’s Kids! Death! Wheel Chairs! NO!” I drove home very calm. I didn’t want to upset the kids. I smiled, made jokes, and waited for my husband to come home from work. Then I went for a run. I couldn’t see where I was running I was crying too hard. I was MAD! I wanted to hit something! I screamed “Dear God in Heaven, WHY???? IT DOESN’T GET ANY WORSE THAN THIS!”

Well, God does have a sense of humor! To this day, that was the last time I ever said “It doesn’t get worse than this”! Trust me, IT CAN and WILL! I cried the rest of that night. Don held me, fighting back his own tears to be strong for me. We have a rule! Only one of us can have a breakdown at a time, and after 15yrs we haven’t broken this rule, yet. Don is the love of my life and I thank God for him everyday. I know that together, we can get through anything!

I spent the next year learning about muscular dystrophy. I volunteered for the Muscular Dystrophy Association. I met wonderful parents from all over the world. Parents who were fighting to save their children’s life! I cried with them when their children lost the battle. I watched in awe as they fought to find a cure!

God Bless Jerry Lewis for his years of dedication to the MDA. He took an unknown disease and made the world aware of it. That is a dedication you don’t see today! I will be forever grateful for his hard work and dedication.

I learned that Emery Dryfuss only affects boys and was not the worst type of muscular dystrophy to have. Yes, Jacob would be in a wheel chair but he could have a long wonderful life. I demanded he go climb all the trees he wanted and do all the sports he felt like doing. I figured if he was going to be in a wheel chair he should enjoy his legs for as long as he could!

Jacob’s yearly geneticist appointment came again. Armed with my newfound knowledge, I was ready for all surprises. My doctor is wonderful and researched all the current treatments and tests for muscular dystrophy. She found a lab that had a new test, and 5 weeks later, I got the call. Surprise! The test was negative, NO Muscular Dystrophy.

The New Diagnosis! “Rare progressive neuromuscular disease of unknown origin. “WHAT?” This is what we call at our house “The Damned if we know disease!” I joked with my doctor just call it “Slawson Syndrome” and we’ll be done. She didn’t take me up on that offer.

Around Jacob’s next appointment, Sami was complaining about her hands. She was having trouble closing them. At first I thought she was just sleeping on them wrong. The truth is I knew something was wrong, but I had no idea how wrong it was!

Not the roller coaster again!

I took Sami with me to Jacob’s next geneticists’ appointment. After examining Jacob, I ask the doctor if she would look at Sami. She started looking and checking. I could tell by the look on her face that something was very wrong.

All I remember is asking Jacob to take Sami in the playroom. After that I remember just fear and terror, as she explained that Sami’s hands were the least of her problems. She explained that whatever Jacob had, Sami had too! For the first time in my life, I broke down and cried in front of a doctor. It took everything in my soul to drive home with a smile on my face. Jacob knew something was wrong.

The next year was spent doing more tests. Over the last 13 years my kids have had 25 surgeries and hundreds of tests! They always took it like troupers. They were always so brave. The new batch of test came back negative. During this time, Jacob developed a cyst under his chin. During surgery, Jacob almost died due to breathing problems. Jacob takes great pride in telling this story! Not only did he almost die, but also that same night, there was a big earthquake! Being on the 6th floor of the hospital, his bed rocked across the room! We were horrified! Jacob was having fun!

After 13 years, I was growing very tired! The kids were tired of being poked with needles every time they went to the doctors. I was starting to believe that the doctors would never figure out what was wrong with my babies!

The yearly appointment, AGAIN!

The doctors looked at the kids and wanted to run a few new tests. Jacob being my big man, volunteered to have the blood drawn on him. That way, Sami didn’t have to get a blood test. Jacob is wonderful! His eyes melt your heart, he is wise beyond his years, and has the greatest sense-of-humor. He’s also a practical Joker. On one of the doctors’ visits, the doctor wanted a urine sample. So Jacob filled it with water and a little coke to make it look like urine. When the doctor came in to get the “sample”, Jacob opened it and took a big drink! The look on the doctor’s face was priceless.

When we got home, Don asked what the test was for? I said, “It’s just another stupid test that will turn out negative.” (Note to self: Learn To Keep Mouth Shut!) A few weeks later, I got a phone call from my doctors assistant, I remember him saying, “The test was positive! We are close to finding a diagnosis!”

I hung up the phone. I was in a panic! What test did they run? I rushed to find the paperwork. Looking at the papers I remember thinking, “What’s mucopolysaccharidosis? What’s a storage disease?” I looked up everything! I was trying to figure out what the doctors were talking about. I proceeded to take a crash course on MPS and Storage Diseases. The more I learned, the more the last 13 years made sense! I wanted to kick myself for not looking at this disease before.

At the next doctors appointment I was ready. I learn about what clinical trials were going on for MPS. From what the doctors were telling me, and the description of the disease, I figured that the doctors were looking at MPS1 or MPS6. The doctor’s were thinking MPS6 but we need one more test. The Final Test that would finally give us a true diagnosis, ONCE AND FOR ALL!

For the next 5 weeks I sat on pins and needles. I knew there was a clinical trial for MPS6 that had just started. We just prayed that it was MPS6. We knew that if it was, the kids had a mild form. I was hoping the test results would hurry up and come in so I could get them treatment.

June 14, 2001. It’s funny how some dates just forever stick in your head. It was the last day of school and the kids had a heart doctor appointment at children’s hospital. I was rushing around trying to get everything ready when the phone call came. I sat in shock as the doctor told me it was MPS1-Hurler-Scheie. I remember thinking “NO! Your Wrong! Not MPS1! MPS1 MEANS MY BABIES ARE GOING TO DIE! NO!”

God bless my doctor! I think she was almost as upset as I was. She was saying, “Tami I’m sorry! I didn’t want them to have this one!” She is a great doctor and truly cares about Jacob and Sami.

The rest of the day was a fog! I was numb! I don’t remember the drive to children’s hospital, but I remember the look on the Heart doctor’s face when I said MPS1. We both sat there in silence, but the look on his face said it all.

God works in mysterious ways!

The national MPS Society was holding their annual conference in Los Angeles. So, a week after the kids were diagnosed, I was at a conference surrounded by thousands of parents, doctors, and scientists all who were on one mission, to cure MPS.

I sat in awe! How could I have not heard about this disease with so many people working so hard to cure it? I knew about muscular dystrophy, lupus, cancer, and cystic fibrosis. I saw the movie “Simon Birch”. I never remember hearing about MPS!

The conference was great, but very overwhelming! I came home every night and cried. The second night, I was so upset; Don almost didn’t let me go the next day. I begged him! I had too! I needed to learn about enzyme replacement therapy for MPS1. I needed to hear how the trial was going. I needed to hear there was hope!

For the next week, I absorbed all the information I got at the conference. I was overwhelmed. I was stressed out! I didn’t want to do this! I didn’t ask for this! I was having what I call a “pity party” for myself, for Don, and most of all for the kids, I was having one big PITY PARTY!

Then, after a week of crying, I picked myself up and got MAD! Nobody’s going to tell me my babies are going to die!  I contacted the MPS Society and had them send me information on the Walk/Run. I had no idea what I was doing, but at least I was doing something! I talked to the kids and Don. We decided to join the MPS Walk/Run. Not just for Jacob and Sami but for all the kids with MPS.

Enzyme Replacement Therapy will be hopefully available for MPS1 soon. Thanks to all the hard working parents and doctors before us, my children have hope. Sadly, so many children with MPS and ML are still waiting for that same hope! The MPS Society doesn’t have a “Jerry Lewis”, but they have a lot of wonderful families working very hard.  We consider it an honor to join the fight.

Together we can find a treatment and a cure!