Patient and family testimonials
Mr. K's experience
◯ ブルーム症候群と診断された日
2021年の秋、娘が1歳6ヶ月ごろに診断を受けました。
お腹にいた頃から2週分くらい身体が小さいけど、小さい以外の異常は何も見つからないという
状態でした。その後骨髄検査等いくつかの検査をして調べて行くうちに遺伝子検査で
ブルーム症候群と診断されました。
◯ 病気に対してどんな対策をしているか
①日常生活では日焼けに注意が必要なので、日焼け止めと保湿剤を塗っています。なるべく肌を
露出しないように夏でも長袖を着せています。水遊びが大好きですが、日陰でラッシュガードを
着用して遊ばせています。
②免疫不全があるので、病気を予防する薬を定期的に飲んでいます。
③造血不全で貧血もあるので、2ヶ月おきに日帰り入院で輸血を行なっています。
採血や輸血の負担が軽くなるようにと左胸にポート留置の手術を行いました。
何度も頻繁に採血や点滴を行ってきて血管が硬くなってきてしまい
採血が上手く出来なくなってきたためです。
月に一度カテーテルが詰まるのを防ぐために通院をして薬を注入する必要がありますが
ポートを刺す部分にエムラパッチ(麻酔)を貼ることで痛みによる負担を軽減させることができました。
◯ この病気で困っていること
娘に輸血や採血する時のストレスがかかってしまうことです。ポートから採血をする際
エムラパッチで針を刺す痛みは軽減できますが、輸血の副作用で腰痛や発熱が出てきてしまうことも
あります。
また病室での生活も行動制限がされてしまうので、動き回って遊びたい幼い娘にとっては負担に
なっているようです。
◯ 今後望むこと
現状とにかく症例が少なく、根本的な治療法もなく出てきた症状に対処していくしかないので
研究が進み症状が改善の方向へ進むと良いなと思います。
娘が少しでも長く日々の生活を楽しんで過ごしていってくれることを望んでいます。
NKさんの経験談
The day I was diagnosed with Bloom Syndrome
When he was 1 year and 4 months old, he underwent a chromosomal test and was diagnosed with Bloom syndrome.
The reason for the examination was that the baby's feeding was poor and his growth in height and weight was not satisfactory.
◯ Things I pay attention to
Regular use of sunscreen to protect against UV rays (especially in the summer) and difficulty regulating body temperature due to illness
Since I can't do that, I always keep a small amount of water on hand and a change of clothes.
◯ What are you having trouble with?
Because it is an extremely rare disease, there is little information available and the only treatment available in current medical practice is targeted therapy.
There was only negative information, such as a high probability of developing malignant tumors or cancer, and as a family
There is a mentally painful part.
◯ About my child's complications
Even while he was in the womb, ultrasound showed some kind of abnormality,
The baby was born with extremely low birth weight due to fetal growth restriction (474g), which resulted in various complications.
He visits multiple departments regularly, several times a month or once every six months.
His condition is insufficient and he is not yet able to walk (he crawls around).
◯ As a child requiring medical care
Currently, as a medically-dependent child, phlegm suction and weaning food through a gastrostomy tube due to an eating disorder are performed.
Nutrients and medications are injected, and oxygen is used to maintain Spo2.
◯ What I want to do in the future
Expanding family associations and building communities with people in the same situation as those with incurable diseases
Participation in conferences and events, awareness of the disease, etc.
Mr. H's experience
The day I was diagnosed with Bloom Syndrome
He was small from the time he was in the womb and smaller than average after birth, so we had him genetically tested when he was one year old.
Nothing was found, so when I was 12 years old, I was retested and found to have the disease.
What measures do you take against illness ?
If there are any cases of influenza or coronavirus in the class, the teacher will notify us and we will hold remote classes.
We are taking thorough measures to prevent infection.
I wear sunscreen and a hat all year round to avoid sunburn.
We are trying to detect it early.
◯ What is bothering you about this disease?
There are different worries depending on the age group, but nowadays, children have to go to the hospital and catch colds that last for a long time, so they miss school.
I am very worried about the impact on my grades and the impact on my entrance exam report.
◯ What I hope for in the future
Above all, there is a cure for this disease.
I would like to see more slots created for children with serious illnesses to be accepted into regular high schools, due to issues such as the number of days they attend school.
◯ What we hope for in the activities of the family association
We want to create a place where we can empathize with feelings that only we can understand, help each other, exchange information, and eliminate anxiety.
I hope I can become one.
Mr. H's experience
The day I was diagnosed with Bloom Syndrome
He was small from the time he was in the womb and smaller than average after birth, so we had him genetically tested when he was one year old.
Nothing was found, so when I was 12 years old, I was retested and found to have the disease.
What measures do you take against illness ?
If there are any cases of influenza or coronavirus in the class, the teacher will notify us and we will hold remote classes.
We are taking thorough measures to prevent infection.
I wear sunscreen and a hat all year round to avoid sunburn.
We are trying to detect it early.
◯ What is bothering you about this disease?
There are different worries depending on the age group, but nowadays, children have to go to the hospital and catch colds that last for a long time, so they miss school.
I am very worried about the impact on my grades and the impact on my entrance exam report.
◯ What I hope for in the future
Above all, there is a cure for this disease.
I would like to see more slots created for children with serious illnesses to be accepted into regular high schools, due to issues such as the number of days they attend school.
◯ What we hope for in the activities of the family association
We want to create a place where we can empathize with feelings that only we can understand, help each other, exchange information, and eliminate anxiety.
I hope I can become one.
Mr. H's experience
The day I was diagnosed with Bloom Syndrome
He was small from the time he was in the womb and smaller than average after birth, so we had him genetically tested when he was one year old.
Nothing was found, so when I was 12 years old, I was retested and found to have the disease.
What measures do you take against illness ?
If there are any cases of influenza or coronavirus in the class, the teacher will notify us and we will hold remote classes.
We are taking thorough measures to prevent infection.
I wear sunscreen and a hat all year round to avoid sunburn.
We are trying to detect it early.
◯ What is bothering you about this disease?
There are different worries depending on the age group, but nowadays, children have to go to the hospital and catch colds that last for a long time, so they miss school.
I am very worried about the impact on my grades and the impact on my entrance exam report.
◯ What I hope for in the future
Above all, there is a cure for this disease.
I would like to see more slots created for children with serious illnesses to be accepted into regular high schools, due to issues such as the number of days they attend school.
◯ What we hope for in the activities of the family association
We want to create a place where we can empathize with feelings that only we can understand, help each other, exchange information, and eliminate anxiety.
I hope I can become one.