Saturday, June 14, 2014

Tulip Tales: Amber

Amber has a condition called I-cell disease, also known as Mucolipidosis II. 

I-cell disease is a rare, inherited, progressively debilitating disorder. The most common features of the condition are developmental delay, coarse facial features, joint limitations, and skeletal abnormalities. There is no cure for I-cell disease.

Anybody may be a carrier of this gene, but it is only when both parents are carriers that there is a 25% chance their child will be born with this disease.

It is believed that every 1/90 Newfoundlanders are carrying this gene and may not know it. The highest concentration of the gene worldwide is thought to be in Saguaney Lac Saint Jean, Quebec, with 1/39 carriers.

 Amber's Mom, Pauline tells her story. 

To begin with, we had some knowledge about I-cell disease, and knew that my husband may be a carrier for this gene. Before getting pregnant, we consulted with Genetics to determine what the risk might be. Honestly, we were not worried at all and we looked forward to having a baby. Everything turned out to be fine, and we had a healthy baby girl!

Four years later, we got pregnant again with Amber. This time, I had an amniocentesis, which came back fine, so again we had no worries.

When she was born, the nurses noticed that Amber's appearance was different from other newborns and brought it to the doctor's attention. That was at the Carbonear General Hospital. The doctor would not tell me herself, but sent a nurse who was very blunt and straight to the point. I will never forget that moment. I had Amber in my arms and the nurse said, "There's something wrong with your baby." I said, "What do you mean, is she going to be ok?'  She replied, "Now, Pauline..."

I was sitting up in bed and my arms started to drop. She asked "Did you want me to take her?
I said yes and handed her over. For a sick, twisted second, I thought I was giving her back. For good.

My thoughts were racing and I remember thinking that I needed to get the IV out of my hand.
I had to walk, no, run away!!! It was a scary moment. Life changing.

The room was filled with panicking family members talking loudly and crying. All I heard was noise. Before I knew it, there were ambulance attendants ready to take my baby to the Janeway Children's Hospital in St. John's.. without me.

The nurse asked me what I was going to call her. I said I was thinking about 'Amber'. 

She said "Amber what?" I thought quickly and said "Amber Allie".

She said "Do you want to take a picture with her before she goes?

All I could think was "Oh my God. She's gonna die". I was in total disbelief, confused, and shocked.

I could hear the noise of everyone in the room. My sister saying that they were making a mistake. She was angry. I was lost. 
We stood around Amber before she was wheeled into the ambulance. We held hands and started to pray. 

That night was the longest ever. 

The next day I got to the Janeway, and I remember almost running through the halls to get to my baby. When I got to her room I took her up in my arms right away. Looking at her, she looked perfect to me, but now looking back, I can see what they saw.  

"Just take her home and enjoy her", they told me.

Children with Mucolipidosis type 2 typically do not walk or talk. Their life expectancy is 5 - 8 years. 

We were devastated. I could not come to terms with the fact that I would have to bury my child. I could not wrap my head or heart around it. I just knew I would not be able to go through with it. I would stare into Amber's blue puffy eyes. It was all wrong. This had to be a mistake.

At nine months, Amber developed two hernias. Dr. Price at the Janeway operated and things went smoothly except for the intubation. It was on the third attempt that the anesthesiologist finally succeeded to intubate Amber. She came out of surgery and healed without any major concerns.
The anesthesiologist visited us after the surgery and explained how difficult it was to intubate her and because of that the surgery almost did not go ahead. He told me that Amber's airway was only the size of the tip of a pen.

Adjusting to this new life didn't happen overnight. We knew very little about I-cell disease, so we didn't really know what to expect. That was a journey in itself. But Amber has flourished into a beautiful little girl who has enriched our lives in so many ways! She is quite active, which is not typical of an I-cell child. She gets around on her own very well. She works very hard to do so, which shows us how determined and strong she is.

Amber started doing physiotherapy, and I learned how to do some exercises and stretches in different positions with her. At about 17 months old, Amber began to gain some strength. She made more efforts to roll and move. As the weeks went by, Amber sat up on her own. Then sat on her knees. Then pulled herself into a standing position.
She does not walk on her own, but if you hold her hands she will stand and walk with assistance. She can use a walker. She can crawl. She can stand to the coffee table, go around it and get back down on her own. She can pick up items, food, etc. She loves to push things around on the floor such as boxes and other large objects that she can use to help her to get around. She is pretty smart. Amber knows many words and knows how and when to use them. She is very comical and loves to make people smile and laugh.

I-cell has taken its affect on Amber, however. At 6 yrs old, she weighs only 21 lbs. Her back and chest have rounded more in the past year, and it affects her lungs and breathing. She tires easily. Her teeth were removed because they decayed and began to fall apart (a common symptom of her condition).

Amber is followed by a Cardiologist at the Janeway every 6 months to keep tabs on the function of two valves in her heart. As of now they are functioning well, and that's all that matters. 

Amber does not attend school because her pediatrician recommends not to, due to the fact that Amber's immune system is weak and she can easily pick up viruses. For Amber, a cold can quickly lead to pneumonia and lengthy hospital stays.

Amber loves attention, as all kids do, I suppose. She is very social with adults and children. She is a happy little girl, full of personality. She has many friends and lots of support from our hometown and surrounding communities. I-cell disease has slowed her down, but hasn't stopped her from doing the things she loves. We love her more than words can say.

Pauline, thank you for sharing your sweet little girl with us! Amber is adorable, and you are certainly doing everything you can to ensure that she has a full and happy life! I'm sure that it can be difficult learning how to deal with such a rare condition, but you have embraced it, and you have been a huge help for others in similar situations.

Pauline created a support group on Facebook called "Support Group for I-Cell Disease / Mucolipidosis II"  
The group has close to 800 members worldwide.

"I formed this group for parents and families of children with ML II / I-cell disease, past or present, as a form of support to one another. We share stories and personal journeys, browse one another's pictures and become friends or as we call it 'ML family'. It gives me so much support and comfort knowing that I am not alone. That other moms are experiencing the same things that I am. Most of us on the group are very close. We speak by phone, Facebook messages and email.
If your life has been touched by a ML child & their courageous family, or you just want to show your support, please feel free to join. My name is Pauline & I am the mother of a beautiful little girl who has ML II/ I-cell disease."

If you would like to be featured on Tulip Tales, please email me at:  Please include a brief description of your child and their condition, along with any pictures you would like to share.  I will contact you with specific questions.



  1. She is an adorable little girl and I hope she stays strong and is around to love and cherish for a long time