Mucolipidosis IV Foundation

MUCOLIPIDOSIS IV FOUNDATION - NEWSLETTER ARTICLES

GRANDPARENTS' PERSPECTIVE

December 6, 1979 was one of our happiest days. Yael, our first grandchild, entered our world. She was absolutely beautiful with her dark hair and big brown eyes. So cuddly and delicious. We were thrilled and overjoyed!

But sadly, that feeling of emotional excitement and ecstasy lasted approximately one year, at which time Yael was diagnosed with Mucolipidosis Type IV.

G-d works in mysterious ways and we know that we must accept Yael's

condition even though we might not understand it. A child is a gift from G-d. We believe that G-d, in his infinite wisdom, selected two very special people, our daughter Lynn and son-in-law Ronnie, and chose for them to have a special child.

Yael is now sixteen years old. We love Yael very much and derive pleasure in her small accomplishments and delight in her excitement and laughter. Yael is very lovable and affectionate, overly generous with her hugs and kisses.

We know Lynn and Ronnie will continue to shower Yael with the same love and devotion that they have given Yael thus far.

Although Yael cannot speak, we know from her every expression and gentle way that if she could, her first words would be to tell us how much she loves us.

Yael Goldblatt's grandparents, Joe and Roz Zakutinsky

PAUL'S STORY
by Paula Kutner

On September 14, 1992, Paul Harris Kutner was born. He was a 9 lb. 5 oz. healthy and beautiful boy and my husband Allan and I were thrilled to be his parents. His monthly pediatric exams went routinely, with Paul growing well. It became apparent, by 5-6 months, that his motor skills were delayed. He failed to reach the "milestones" that indicated normal development, such as rolling over or transferring onto his hands and knees. However, these developmental delays were not considered serious by his pediatrician. I was comforted by assurances Paul would "catch up".

He didn't catch up, and at his 12 month check up, I insisted on a neurological evaluation. The pediatric neurologist we met with sent Paul for an MRI of the brain. The findings demonstrated a "partial agenesis of the corpus callosum", that part of the brain which connects the right and left sides. The MD was satisfied that this finding explained Paul's developmental delays. A genetic workup was normal, and at 15 months of age, Paul began Early Intervention at Stepping Stone Day School in Queens, N.Y.

My new pediatrician requested a baseline eye exam. Another setback awaited us as an eye exam revealed bilateral corneal clouding. Paul was referred to a corneal surgeon who performed eye exams every 3 months. His primary diagnosis was CHED, a congenital corneal thickening. When the clouding worsened, we were referred to a second specialist for confirmation of the diagnosis. This ophthalmologist recommended a "metabolic workup" to determine a diagnosis. At the same time, our new pediatric neurologist (we wanted a second opinion to clarify Paul's symptoms) recommended a similar evaluation. Ultimately, after a series of blood and urine tests, Paul underwent a conjunctival biopsy, ML4 was confirmed. Paul was 2 years old.

Neither my husband nor I were informed of the significance of a "metabolic storage disease". We hoped that a change in diet or medication could correct Paul's problems. Even after the disorder was identified, the surgeon only explained it in terms of visual function. Not until I did a literature search on my own was the significance of the prognosis apparent. Allan and I met with the endocrinologist who performed the metabolic tests. He attempted to explain the disorder. Our entire world shattered in that meeting.

Now, Paul is 3 years old. He attends pre-school daily. He rolls over, swivels in all directions, and transfers into sitting position without any assistance. His speech consists of "Mama" and "Dada" and I love hearing him call me. He's learning to sign, and it amazes us when he creates his own signs to explain what he wants! We're hoping he'll be strong enough to use a walker some day. And does he have a wonderful laugh!!

Some day... That's the key, because we have not stopped hoping that Paul will reach some unknown potential. The work being done by the ML4 Foundation has allowed us these hopes. As I look at my son's smile, I can smile, too, because I believe there can be a happy ending to our story.

PRESIDENT'S MESSAGE
by Randy Yudenfriend Glaser

I am delighted to be writing this column for the premiere issue of the ML4 Newsletter. I am the mother of five children, two of whom are affected with ML4. My husband, Jordan, and I became involved in the Foundation in 1984 when only a handful of families with an ML4 affected child were known in the New York area. The Foundation has grown tremendously since then, and it has been gratifying to see the progress we have made as an organization in our fight against ML4.

As the parents of ML4 children, there will always be a sadness no friend or relative can truly understand. The support and friendships we have made through the Foundation, however, have helped to get us through many difficult times. We learned that there is life after ML4 and even happy times and laughter.

Through the efforts and contributions of a relatively few members, parents and grandparents, we are now funding over $150,000 per year in research. We have recently met with a major New York public relations firm in order to develop a campaign strategy that will introduce ML4 to the public at large. We are currently exploring mechanisms to earmark funding for this campaign.

The parents and gradparents of ML4 children that make up the Board of the ML4 Foundation are committed to our affected and healthy children to make the dream of a carrier screening test, a treatment, and a cure a reality.

NIH CLINICAL STUDY

The National Institues of Health has undertaken a three year prospective clinical study of ML4 patients. The information they gather will, in the future, give physicians necessary information to assist with treatment procedures as soon as they become available.

Dr. Raffi Schiffman is coordinating the study under the auspices of Dr. Norman Barton. Children will be seen over a four day period during which time they will be evaluated by neurology, ophthalmology, physical and speech therapies. They will also undergo an Mr spectroscopy or MRI.

An arrangement has been made with the NIH whereby, after consents are signed, any blood drawn on a patient will also be sent to Dr. Gusella at Harvard. Dr. Gusella's lab will be using the blood to prepare cell lines so that (in most cases) no future blood samples will be needed.

We urge all ML4 families to participate, as the information that will be gathered is crucial. If you have any questions, please call the Foundation at (718) 434-5067.

BLOOD SAMPLES

It has come to the attention of the foundation that concern has been expressed by parents regarding multiple requests for blood drawing.

We urge you to cooperate with any requests made by any of our researchers for blood samples. Without these samples, the important work of the research scientists cannot continue.

The arrangement with NIH (see NIH above) will eliminate the need (in most cases) for additional samples. Unfortunately, although some of you have had blood drawn by another group (other than NIH), the samples were not always immortalized and so the blood has been used up.

Analysis of blood samples already supplied by families has resulted in important scientific findings. The data was recently presented at our national symposium in Overland Park, KS. A video of the symposium is available to you by sending a check made out to Paul Gale, 3908 Cimarron, Lee's Summit, Missouri, 64064 in the amout of $22.38.

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