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Keiko, Phil, Adam, and Shaun

Surrey, England

Shaun's story: Tokyo, March 30th 1998

Every birth is a special event. The day Shaun arrived into the world was a day we will never forget. He was born in Tokyo, Japan when the cherry blossom flourished and spring gave the air a feeling of growth and freshness. We chose his name with Japanese pronunciation and kanji characters in mind - the meaning when written in Japanese means "soaring music"!

The pregnancy had been normal with a little bleeding, but no complications. Birth went without a hitch and we returned home as proud but tired parents. The post natal blood tests revealed some hypothyroidism which alarmed us at first, but catching it early and giving Shaun the right levels of thyroid hormone medication prevented any ill-effect. The dose was reduced over 6 months and as the thyroid gland became active, the treatment was phased out.

As a small baby, Shaun slept well and one or two people commented how quiet he was, but we had no idea of any developmental problem. We started to get concerned over his head wobble, but the 6 month check gave him a clean bill of health. At 9 months we moved from Japan back to UK and were by then quite worried about his slow development. Our General Practitioner (GP) saw him at 10 months on our first visit and declared "something is definitely wrong".

The parental agony of a long, drawn-out period of testing and investigation is beyond description. "Developmental delay", "floppy" and "hypotonic" were the only phrases used to tell us what was going on. We remember frantically searching the internet for these phrases late at night, and only realising there was so much information we didn't know. Tests performed one at a time (to save government health costs we realised much later) elongated the process and only served to increase our frustration and bewilderment. All blood tests and chromosome analysis returned negative. MRI and CT scans showed no obvious abnormality. Hearing was normal.

6 months later with no further clue, we headed in desperation back to Japan, a long flight of 12 hours, arriving during a hot, sweltering summer. We wanted to visit the same hospital that had treated Shaun's hypothyroidism. It took them only a few hours to find cataracts in both eyes - a salutory and belated lesson in how to perform diagnostic tests efficiently ...

Shaun now has Intra-ocular Lenses (IOLs) in both eyes, and although he had several subsequent eye operations to clear secondary cataract scar tissue, his eyes are now clear. He will always have some degree of sight limitation since visual development in the brain is affected. A second MRI scan showed the cerebellum part of his brain to be smaller than normal and underdeveloped. At 33 months, he cannot speak any words yet, but understands words like "nose", "bib" and "kiss". His height and weight are average for a child his age. He cannot stand or crawl yet, but sits propping with both hands.

He is developing ... just slowly. He has a suspected diagnosis of Marinesco-Sjogren Syndrome; we hope one more set of muscle and skin tests soon to happen will shed more light on this. Either he has MSS or perhaps a related variant, as yet not well understood.

The process of acceptance is painful and takes time. As parents, we reacted differently, which tested us greatly. We can now see Shaun's development curve and start to imagine the future. He has started 3 afternoons a week at a special needs nursery school, which is helping his social skills. We have learnt to focus on the many positives about Shaun - his wonderful smile and laugh that comes from deep inside his tummy; his moods and comical expressions; his determination to push himself; his love of music and the outdoors. He is and will be a great person. It is our privilege to be his parents.

Family Update: November 2006

Time passes, flowers bloom, children grow. Shaun is now 8 years old and continues on his own path. He is still the handsomest boy in the world, and charms everyone he meets. He is happily settled a specialist Learning Disability school in Guildford Surrey and gets transport by bus to & from school each day.

From a medical standpoint, we still don't have a 100% sure diagnosis for Shaun. "Possible MSS" is where we stand! He had the cataracts, muscle tone problems, learning difficulties, reduced cerebellum and low height/weight associated with MSS. A muscle biopsy from his thigh indicated a low level of Cytochrome C Oxidase Complex IV (low, but not zero). However the consultants at Great Ormond Street Hospital were cautious with this as a diagnosis, since Shaun did not show other symptoms associated with this metabolic disorder, and apparently this reading from a muscle biopsy can be unreliable. They also considered a mitochondrial disorder - low levels of energy at cellular level. But again Shaun's steady upward development was not consistent with this. So we are left with MSS, and all the mystery still surrounding it! The recent discovery of the linkage to the SIL1 gene gives us more to investigate, which is our next step.

Shaun's progress in the last 4-5 years shows steady gains in his understanding, learning and speaking. He understands a lot of what is going on, and makes his opinions known forcefully! His speaking vocabulary is around 100 words, although he gets certain fixations: e.g. "Mummy, Daddy, Car, London, Day !!" But this is a real sentence, not just 5 words: "Mummy, can we go in Daddy's car to London today please!"

Physically he still gets around crawling, and can push to stand. He can haul himself in & out of the bathtub now! He still loves swimming at the local pool. During the last two years his abductor muscles in his thighs have grown progressively tighter. His hips have displaced out of the sockets, which don't have enough "curve" to keep the thigh bone in place. We decided with Gt Ormond St to operate on the abductor muscles to loosen them and prevent his legs crossing. This will happen early 2007.

Other happy events to report: in the summer of 2002 we visited Colleen, Steve and Kimberly in California. It was such a boost and inspiration to meet them and form a transatlantic friendship! Then last summer 2006, they repaid the compliment and visited us in Surrey England! How wonderful to see Kimberly's progress and what a lovely warm girl she is!

Our family received one more blessing. Adam was born in 2003 and is now a delightful, funny boy of 3 years. He has none of Shaun's disability issues, and is in kindergarten class at our local school. Shaun is just part of his normal world and they have a great relationship together.

So life goes on. We still have to think a lot more about his care & finances in future, his mobility & leg muscle operation, if he will ever have a diagnosis. It's never easy. But he is very happy with his life, and we are determined to make it as rich as possible!

Phil & Keiko
Surrey, England

Shaun