Kaishi - One Menkes boy's story
was with us for 3 years and almost 3 months. Born on May 8th, 2001 to his
Japanese dad and Australian mum, here in Saga city, Kyushu, Japan. Kaishi
surprised us from the beginning, being so fair and blue-eyed, not at all
as we imagined.
In the first few days as we were 'getting acquainted', I kept wondering why his hair was so fuzzy and his body temperature always so low? As an only child, everything in his development was a first and so we tried not to worry when things weren't happening as expected. At 6 months I started to notice a few, kind of, "shrugs". It was later in December at 7 months, when we took Kaishi for his first TB skin test that his low body temperature indicated something was really wrong. The next day I took him to the doctor, mentioned the 'shrugs' as well and immediately an EEG was done. There and then we were referred to Saga Medical University Hospital for tests and Kaishi was put on vitamin B6. From that afternoon the rollercoaster of emotions began.
Kaishi's first Christmas was in hospital and after a whole array of tests, it was Jan 7th when we first heard about Menkes disease. It just seemed unimaginable that this seemingly healthy little boy would change and succumb to a lack of ... copper. We left hospital with a regimen of vitamins and medicines, both of us being able to give Kaishi his daily copper injections and a portable suctioning machine.
|Diary: 2002 January 18||Start daily copper injections.|
||Kaishi (age 9 mths) was no longer able to breast-feed.|
Started using a nasal feeding tube. Still eating small amounts in paste
||First kidney stone (age 11 mths). Eventually changed one of Kaishi's anti-convulsant medications, and 'stones' stopped.|
Kaishi's FIRST birthday.
|May 20||First broken bone. X-ray revealed prior fractures.|
|May 24||Vomiting out nasal tubes. Changed to longer ED tubes.|
|May 28||Had to stop all feeding orally. Everything now via his nasal tubes.|
|June 3||Started 3 days of treatment every 2 months via an I.V. of APD-Aredia used to treat children with "brittle-bone" disease. It was the only thing we could do to try and slow the softening of his bones.|
|June 14||Copper injections every third day.|
|July||Using a pump, Kaishi was feeding almost continually for about 14 hours a day, to try and relieve the vomiting. Kaishi was no longer able to express all his urine. We could take him home once we were able to use a catheter 5 times a day.|
|July 20||Vomiting worse. Started using weighted ED tubes. Require X-ray to ensure they are in the correct place. (weight 9 kg)|
In amongst all of this, Kaishi would have his happy times. So many smiles, little chuckles and a few big belly laughs. It was those moments, that made our spirits soar and how Kaishi kept us going !
By mid August with the vomiting never ending, we decided the best thing for Kaishi was to have his first surgery, and have a 'gastro-button' put into his stomach. It made such a difference, from 14 hours a day feeding to 5 hours a day. Also it meant we could take Kaishi outside sometimes into the garden for little walks, some sunshine and go for short drives. Life felt a bit normal again.
|Diary 2002 continued:November||Kaishi (age 18 mths) was stable enough to change from weekly to fortnightly visits to the doctor.|
|December 6||Weight 11.7 kg|
|Into hospital for bi-monthly APD-Aredia bone treatment. Also some congestion, so using a nebulizer.|
|April 5||During a 'crying' seizure, Kaishi suddenly stopped breathing for 10 minutes. It was pneumonia. After 2 weeks in the ICU and by his second birthday, Kaishi was home again. But he didn't recognize his favourite toys anymore and wasn't able to smile for 3 months. One positive thing was that his 'crying' seizures were gone then, for almost a year.|
|June||Back in hospital with respiration problems and badly broken left leg.|
|July 10||Out of hospital. Kaishi was now on oxygen, 24 hours a day.|
|July 16||Kaishi smiled again ! What a wonderful day that was.|
|September 23||Broken upper left arm.|
|October||Weight 10 kg|
|December||Started using a nebulizer at home twice daily. (weight 11 kg)|
|2004: January 6||Kaishi on another new anti-convulsant medicine.|
|January 9||Double break on right leg (age 2yrs & 8mths).|
|March 3||Double break on right arm.|
|March 27||Short drive to see the cherry blossoms!|
|May 8||Kaishi's THIRD birthday, with all four grandparents here to help celebrate !|
It was a wonderful birthday for Kaishi, but his smiles had disappeared because of all the painful bones and the 'crying' seizures had returned.The seizures combined with phlegm and a gradually weakening respiratory system led to the morning of May 17th. Kaishi suddenly stopped breathing and this time his heart too, for over 40 minutes. We tried CRP and heart massage and while the ambulance arrived quickly, so much damage was done.Kaishi was no longer conscious, couldn't swallow or cough anymore and after 3 weeks in the ICU the only option for him was to have a tracheotomy. The surgery went well, Kaishi was feeding again as before and by early July he was off the ventilator as well, just using oxygen.During these weeks, there were numerous times when he would just stop breathing, though after 30-40 seconds he'd be okay again, usually without any extra oxygen assistance. However, on August 4th at 2 pm, Kaishi suddenly stopped breathing again. Though we continued hand ventilating, by 2:30am on the morning of the 5th, Kaishi was gone.Kaishi fought and endured through so much during his brief life, and thanks to him we had contact with other Menkes families.We know how precious the time with our boys is and how important Professor Mercer's research is, in finding ways to improve the boys' quality of life. To give our families and future Menkes boys more chances to be held, cuddled, go for 'walks' ....Being a rare disease, we realise funds for Menkes research are limited, but by starting this memorial fund in Kaishi's name, we honour ALL Menkes boys - past, present and future.
Thank you for your support.
To make a donation: Kaishi Akizuki Memorial Fund Donation Form
Menkes Disease Research is carried out in the Centre for Cellular and Molecular Biology, School of Biological and Chemical Science, Deakin University, Victoria, Australia, by Professor Julian F.B. Mercer and his team.