Jenny's Journal

Welcome to Jenny's world!


Welcome & Come on In! Your visit is so important to Jenny & her family. We are so pleased that in this ever changing world you have taken a moment to glimpse inside a day in the life of a young lady who faces one of the rarest Lysosomal Diseases known in the world, Mucolipidosis Type III. This is a story of her courageous journey. Check back with her often – one of us promises to keep the journal updated. We have so many family & friends that love to know how she is.
We hope this will guide us all.

Mucolipidosis Type III is an orphan disease among a larger classification of Lysosomal Storage Disorders. In fact it is so rare that our numbers of Mucolipidosis Type II & III (ML II & III), are approx. 100 in the world. Imagine that number, Imagine that diagnosis. In the United States are numbers are approximately
40 children. Every year we lose one or more of our children to Mucolipidosis. It is a degenerative disorder
there is little research and currently no cures.

Short Description of Lysosomes & Mucolipidosis

Lysosomes are membrane-bound compartments found in the cells of the body. These compartments contain enzymes, which are responsible for the breakdown of many large molecules. These molecules are continuously made and broken down in our bodies and this process is necessary for appropriate mental and physical development. Each enzyme in the lysosome is responsible for a certain step in the breakdown of the molecule.

Many lysosomal storage diseases are caused by the absence of one specific enzyme that leads to the build-up of molecules in the lysosome. However, in ML II/III many lysosome enzymes are missing. This is because the enzymes are lacking a signal that is necessary for them to get inside the lysosome. Instead of getting into the lysosome and breaking down the molecules found there, the enzymes are found outside the lysosome. This leads to the build-up of molecules inside the lysosome. You may hear this disorder called a “targeting” defect. This refers to the fact that the enzymes lack the signal that targets them to the lysosome in the cell. Instead they end up in a place where they are unable to do their work. Not every enzyme within the lysosome is missing. It has been shown that some enzymes are able to enter through a different pathway that doesn’t require the signal on the enzymes. We need to find answers.

Mucolipidosis Type III is also known as Pseudo-Hurler Polydystrophy & is a recessively inherited Lysosomal Storage Disorder. ML III was described in 1966 by
Dr. Maroteaux and Dr Lamy from France.
They called it Pseudo-Hurler Polydystrophy as it resembled a mild form of Hurler disease, one of our MPS Disorders.

“Polydystrophy” means that many organs are abnormal. Pseudo-Hurler Polydystrophy disease exists with much less severe clinical findings. The enzyme not working and responsible for putting the targeting signal
on the lysosome enzymes in both I-Cell disease and
Pseudo-Hurler Polydystrophy is
N-acetylglucosamine-1-phototransferase.

Unfortunately at the present time, there is no cure for ML III. Many of the complications require symptomatic management that includes surgical procedures. In 2000 there was a major medical break through in the understanding of a secondary metabolic bone disease in ML III. There are several children, young adults and adults benefiting from the use of Bisphosphonates, in particular IV Pamidronate for Secondary Metabolic Bone Disease.

Gradually in time children with these diseases suffer from coarse facial features, tight skin, cardiovascular, pulmonary, skeletal, carpel tunnel, eye, mobility & possibly central nervous system involvement. Our children have a wide spectrum of learning capabilities. They range from mild retardation, short term memory loss to excelled learning skills. Some of our young men and women have gone on to secondary schools to obtain degrees. The spectrum is large and your own child’s genetic components determine where on the spectrum his or her journey will exist.

Please take a moment now or come back and visit these sites for an in depth understanding of Mucolipidosis: ISMRD - The International Advocate for Glycoprotein Storage Diseases at http://www.ismrd.org. Here we have a wonderful understood outline of this Super Orphan Disease. It is our
International Home for Mucolipidosis bringing families together from around the world. Also please refer to
The National MPS Society at http://www.mpssociety.org.
They have been our recognized United States support group helping children of 9 different storage diseases.

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Jennifer is our youngest daughter and is
13 years old, attends 8th grade Mill Creek Middle School in Dexter, Michigan. She is one of the bravest young women I have ever known. Her tenacity, determination and willingness not to accept “no” are some of her key virtues that guide her in everyday living. Today Jennifer flourishes in school with outstanding grades, continues to play both piano and clarinet & is a member of the Cadet Girl Scouts. For extra curricular activities she uses her scooter for mobility on long distances.
When you meet any child fighting a life threatening disease your life and the meaning of, forever changes.

Jennifer was born on January 22, 1992 and appeared by all statistics to be a very happy & healthy child. Years passed by and she was active in many things: Skating, Soccer, Gymnastics, Dancing & more. When in 2nd Grade a Physical Therapist at her school singled her out noting something maybe wrong with her stature and her back the call was alarming. Why had a doctor not picked up on this before. The physical therapist at her school had worked with another child who had suffered from Kyphosis (curvature of the back producing a protruding belly). From this point on our lives had forever changed.

For 18 months we traveled on the path of diagnosis. The physicians were stumped – believing she had a syndrome referred to as Spondo-epyseal dysplasia (SED) – although the X-Ray showed common markings to establish diagnosis – she seemed not to “Fit” because there was an underlining issue... she was degenerating. It was becoming slowly more difficult for her to complete her common physical hobbies. SED is not degenerative. Back to the drawing board – and for the first time I heard the term and understood it “Lysosomal Storage Disease”.
More tests & more tests, finally then in 1999 & 2000 we received the diagnosis that would forever change Jennifer’s path in life – Mucolipidosis. We were scared as her parents and family – but I have never been more in fear then when I heard just how RARE the disease was classified. We are classified as a “Super Orphan Disease” with NORD, National Organization of Rare Diseases.

When Jennifer was first clearly diagnosed we new of less than 3 other families in the United States with this disease. One family in particular took us under their wings, The Cromptons from New Hampshire, whose daughter Kelley is
42 years old with Mucolipdosis Type III. This gave us hope. God brought us an Angel that day we made contact with this family. Denise had never let me falter too far in the beginning. She understood the process of diagnosis which includes: Notification, Shock, Denial, Grief & finally Awareness. For the first few years it was Denise's contacts with me that kept me encouraged. Jennifer is the only young lady in the State of Michigan with ML III.

Since Jennifer’s diagnosis she has had:

1. Surgery on her entire spine for Kyphosis and it is now held together with pins, rods and a cadeavor bone.
2. She has had pneumonia twice, once life threatening accompanied with 4 surgical procedures.
3. She has osteoporosis with bones representing an elderly woman of 75- 80 years of age.
4. She is currently being monitored for carpel tunnel.
5. She has been finding much success in the biophosonate therapy of IV pamidronate and now celebrates her 1 year anniversary. She receives infusions 1/month. This medicine is finding her in much less pain than before.
6. She has a team of Specialists at University of Michigan treating her symptoms for cardiac, pulmonary, skeletal, physical therapy and eye issues.

Our road in 2005 has brought us to meet more than 28 families here in Ann Arbor, Michigan with ML II & III and she has made many new friends from around the world. We are priviledged to have access to the internet and found families that are so committed and willing to put everything aside in order to find cures and make the world a better place for our children.

We will work hard at keeping her site updated – thank you to all of Jennifer’s supportive friends and family – you are never far from our thoughts and prayers as well.

The Klein Family
Walt & Terri & her brothers and sister:
Lisa, Dan, Vincent
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E-mail Author: terri@terriklein.com

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