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Kimberly in 2001 – 9 years old Steve, Kimberly, And Colleen - 2004

video clip of Kimberly walking with crutches (10 years)

video clip of Kimberly walking unassisted (10 years)

Introducing Kimberly - 2002

Ten years old - easily maneuvering around school in her walker, watching her favorite videos, enthusiastically packing her suitcase for vacation, proudly riding her new two wheeler with training wheels, reading a book aloud - she has come a long way. But it hasn't been an easy path, and there are many questions about the future. With an appealing smile and a bit of a strong will, she goes about her day with gusto. How did we get to where we are now, and what does the future hold? What were the challenges, and what are our concerns for the future? Hopefully this story can answer some of these questions and even help us understand them better ourselves.

Kimberly was born in July 1992 after a normal pregnancy. Except for some difficulty sucking for the first month, everything seemed perfectly normal. She only weighed 5 lbs, 11 oz at birth, but that didn't seem disturbing for 37 weeks gestation and relatively small parents. By about 5 months, we thought she seemed kind of “floppy”, but the six-month well- baby check didn't raise any particular concerns. She smiled a lot and was very alert and observant. By 9 months, our concerns were growing: she was rolling over, but still not sitting, and still had poor head control. Between 9 and 12 months, her growth also began to slow. We were referred to a pediatric neurologist and the diagnostic tests began. Over the course of a year, Kimberly had a multitude of blood and urine tests, nerve conduction studies, MRI, and more. Everything was “normal”, but clearly something was not right. From the beginning, the neurologist recognized the possibility of a genetic disorder, so we decided to postpone additional children until we figured out what Kimberly “had”.

Kimberly began early intervention (EI) soon after her first birthday. I remember driving the 20 or so miles to the EI classes thinking, “This is a long way to drive twice a week, but its only for a short while”. Clearly we had no idea of the seriousness of the problem and the long road ahead. The EI team provided superb therapy, advice, and well rounded family support.

Other issues began to emerge. Gross motor skills were very slow to develop. While trying to understand her failure to develop speech, mild sensorineural hearing loss was identified at age 1 ½ and Kimberly started wearing hearing aids. Unfortunately, the aids had no impact on speech development. It also became more apparent that Kimberly's cognitive abilities were not normal either. Physical growth remained slow. Enamel on her developing teeth was very irregular and her teeth were abnormally small.

Kimberly was referred to geneticists at Cedars Sinai Hospital in Los Angeles at about two years old. They immediately suggested a thorough eye examination, which resulted in the discovery of small cataracts in both eyes. The diagnosis of Marinesco-Sjogren Syndrome (MSS) was made soon after based on the symptoms of ataxia, cataracts, very small stature, and mental retardation, confirmed by results from cultured skin cells. The hearing loss and teeth abnormalities still have no explanation. We learned that MSS is autosomal recessive and decided not to consider additional children, feeling that the 25% likelihood of another child having MSS was too great a risk. We very briefly considered adoption, but then decided that we like our life the way it is.

So where are we now at the age of ten? Kimberly is very tiny - standing only 46 inches tall and 40 pounds, about the size of a six year old. She had her first cataract surgery two years ago, but the other eye is still stable, and she wears bifocals. She is a pro at using her walker - speedy and agile, and she is showing some promise at using Loftstrands (forearm crutches). Kimberly is progressing slowly but steadily in her school academic work, making particularly nice improvements in reading. Her speech has improved greatly over the last few years, but she still struggles due to both verbal apraxia (motor planning problems) and dysarthria (oral motor weakness). Kimberly is very confident and social - she enjoys school, parties, shopping, playing with her Barbies, travel, and just about everything life has to offer. She participates in Girl Scout Brownies and enjoys therapeutic horseback riding . Kimberly brings a smile to just about everyone who sees her, especially to the elderly with their walkers, hearing aids, and cataracts, who actually have a great deal in common with her. On one hand, we delight at Kimberly's growing language, her emerging ability to read, her enthusiasm at helping with the household chores, and her steadily increasing independence and maturity. At the same time, we struggle with some basic self-help skills, speech that is still limited and often unintelligible to strangers, and the realization that she will probably always need help to accomplish many simple, everyday activities.

What have we learned? We need to balance optimism and hope with reality. We need to maintain a team of doctors, therapists, educators, and friends who all work together to meet Kimberly's needs. We need to balance regular-kid stuff with the demands of a special-needs child. We need to live as normal a life as possible. And we need to reach out to others with similar conditions to share, educate, research, and support. We have met some wonderful families since starting this website and support group in early 2001. Hopefully this website will continue to be a positive step forward in reaching out to others on our exciting journey.

Bike riding at the beach - 14 years Look, Mom! No crutches!

Family Update – November 2006

Kimberly is now 14 years old and a freshman in high school. She walks with confidence using her forearm crutches, and is starting to walk more without them. Just last week, she played part of her soccer game without crutches – a very exciting day! Kimberly talks more than she used to, but she is still sometimes difficult to understand, and her conversations are quite simple. She continues to make slow progress in her school work. Writing (printing) was difficult, but she can finally write simple legible sentences – good for short thank you notes or brief messages to her cousins. Her favorite class at school is PE – especially swimming and archery. She still enjoys horseback riding on Saturdays.

Kimberly is confident and very enthusiastic about almost everything. She particularly likes plays, movies, traveling, helping daddy with the grocery shopping, and, surprisingly, going walking with mommy at the park. When we start our laps, she says “Mommy you go one way, I go the other way”. She has a good appetite and is very healthy. She can shower and dress independently, but has moments of stubbornness. When I describe it to other mothers, they simply say “sounds like a 14-year old”. She has grown a great deal the last two years with puberty starting at about 13 years. Kimberly is now about 4 foot, 8 inches tall, 65-70 pounds, and still growing. She wears glasses (nearsighted, with bifocals for reading), with both cataract surgeries completed a few years ago. She continues to get stronger, and her balance is improving. She brings a smile to the faces of everyone she meets.

Our participation in the MSS support group has allowed us to meet many wonderful families. We are excited to say that we have now met about six other MSS families in the United States and Europe. We are very happy about the MSS gene discovery and the potential it offers for better diagnosis and improved understanding of what MSS is all about. We look forward to meeting more families and hopefully some day having an international scientific meeting and family conference. Please contact us and keep in touch so we can all work together to understand, treat, and even cure MSS.

Video (8MB): Kimberly skiing standing (16 years old)

Video (10MB): Kimberly skiing sitting (16 years old)

Family Update – January 2017

Kimberly continues to progress. She completed her post-secondary program and now participates in a day program for developmentally disabled adults. Given the fact that she does not have a Sil1 mutation and she has several atypical symptoms for MSS, she is now considered to be “undiagnosed”. Exome sequencing did not find anything definitive. We are currently participating in the Undiagnosed Disease Network (UDN) at UCLA. We hope they can determine the cause of her many symptoms: ataxia, hypotonia, juvenile cataracts, intellectual disability, thrombocytopenia (low platelets), severe enamel hypoplasia, microdontia, and mild sensorineural hearing loss.

e-mail Kimberly's family