A story from Italy
Hi! I am a young Italian girl born in 1989. I am 1,55 tall and my weight is 50 kgs. My dad was the first one MED affected in my family and by little brother has MED too.
I was diagnosed in 1995, in Giannina Gaslini Hospital, Genova, Italy, where I did a lot of medical tests that led to the correct diagnosis. Firstly they thought it was a neuromuscular disease and they did neurological tests and muscular enzyme evaluation. After that doctors understood what was the problem in my family: MED.
We were firstly diagnosed with x-rays, then confirmed with genetic test through the European Skeletal Dysplasia Network (http://www.esdn.org/eug/Home). My father was misdiagnosed in the ‘80s in Turin, they didn’t know what his disease was.
I had three surgeries:
1 2000, Giannina Gaslini Hospital, Genova, Italy
shortening of the femur (epiphysiodesis)
shortening of the tibia and fibula (epiphysiodesis)
correction of flat foot on both sides with conical screws in the astragalus and application of staples on the tibia (three) and femur (four) in the right knee (valgus).
After this surgery I had to use a wheelchair for 2 months as far as I can remember, because I felt a lot of pain. It was quite long to recovery and I needed the help of my mum to go out, to wash me, to clean surgical wounds, to go to school and so on. I needed several weeks of physiotherapy because my knee, after the surgery, was bent and I couldn’t straighten my leg. I also needed physiotherapy to restart walking. I don’t suggest to do so many surgeries together – it takes too much time to recovery!
2 2001 Removal of staples
This surgery was useful – my knee was less valgus and my leg remained straighten during time. I suggest this kind of surgery if your knee is varum / valgum because you can improve your situation. I didn’t need much physiotherapy and I had few problems this time. I used sticks for two months.
3 2002 Removal of conical screws
This surgery for flat feet was completely unuseful: my feet returned to be flat in one year! I did physiotherapy to restart walking. I used sticks for two months.
Follow-up was regular until I was a child: I did orthopedic visits almost once a year from when I was 6 until I was 15, then once when I was 18. It was useful to check the general condition and if any surgery was needed to improve my health condition. I do blood tests , x-ray and orthopaedic check up if I feel something worsening now.
Pain has always been a problem for me...I used to take nimesulid 100mg but now it is known it has too many side effects and I try not to use it. Once I took it once a month when I felt a lot of pain (eg. after walking too much) and I felt well for hours. But now I feel bad even if I take nimesulid, so I am not using it anymore. I take ibuprofen 200mg when I feel really bad but pain is not killed.
I did physiotherapy lately but I felt too much pain. I swim or do aqua gym, but after it I feel a lot of pain, even if it is only 40 min. long. I feel worse after physical activity. As I told, I can swim. While I am in the water I feel really well. Then I feel really tired and like my weight is bigger.
I feel pain even for walking 1 meter. But with not so much pain I can walk 1 km per day.
I always feel joint stiffness at my hips, it is like a big needle in the joint even if I sit down. I feel this pain in every moment at my hips. Not in the other joints, there I rarely feel joint stiffness.
I can climb stairs but feeling pain.
My pain list could be:
Hips 10, knee 8, shoulder 3, elbow 3, hands 3, ankle 6, spine 2
I use both sticks and wheelchair. Those improve my life quality a lot because I feel less pain. I use it when I travel or visit museums.
I have the Dominant MED form.
I have COMP mutation, deletion of three nucleotides. It was done by European Skeletal Dysplasia Network, Jason Kennedy was the Clinical Molecular Geneticist, Manchester Children’s University Hospital. This file was reported to dr. Michael Briggs of the Centre for Cell-matrix research, Manchester. This test was requested by Dr. Maja di Rocco, pediatrician, Giannina Gaslini Hospital, Genova, Italy.
My brother and dad carry my same mutation.
I would like to try hip replacement and I am in the waiting list because I feel too much hip pain.
I am open to try everything to improve my health condition.
Now I can’t, but when I was little I was able to stay crossed legs.
I also have scoliosis and lordosis.
iI've never had clinically diagnosed depression, but of course I suffered a lot in my life for my condition, because I am different from the other people and I can’t do everything my friends can do everyday.
The message I want to share with other MED people is:
Even if this is a rare disease, you are not alone! We are special!
I was diagnosed in 1995, in Giannina Gaslini Hospital, Genova, Italy, where I did a lot of medical tests that led to the correct diagnosis. Firstly they thought it was a neuromuscular disease and they did neurological tests and muscular enzyme evaluation. After that doctors understood what was the problem in my family: MED.
We were firstly diagnosed with x-rays, then confirmed with genetic test through the European Skeletal Dysplasia Network (http://www.esdn.org/eug/Home). My father was misdiagnosed in the ‘80s in Turin, they didn’t know what his disease was.
I had three surgeries:
1 2000, Giannina Gaslini Hospital, Genova, Italy
shortening of the femur (epiphysiodesis)
shortening of the tibia and fibula (epiphysiodesis)
correction of flat foot on both sides with conical screws in the astragalus and application of staples on the tibia (three) and femur (four) in the right knee (valgus).
After this surgery I had to use a wheelchair for 2 months as far as I can remember, because I felt a lot of pain. It was quite long to recovery and I needed the help of my mum to go out, to wash me, to clean surgical wounds, to go to school and so on. I needed several weeks of physiotherapy because my knee, after the surgery, was bent and I couldn’t straighten my leg. I also needed physiotherapy to restart walking. I don’t suggest to do so many surgeries together – it takes too much time to recovery!
2 2001 Removal of staples
This surgery was useful – my knee was less valgus and my leg remained straighten during time. I suggest this kind of surgery if your knee is varum / valgum because you can improve your situation. I didn’t need much physiotherapy and I had few problems this time. I used sticks for two months.
3 2002 Removal of conical screws
This surgery for flat feet was completely unuseful: my feet returned to be flat in one year! I did physiotherapy to restart walking. I used sticks for two months.
Follow-up was regular until I was a child: I did orthopedic visits almost once a year from when I was 6 until I was 15, then once when I was 18. It was useful to check the general condition and if any surgery was needed to improve my health condition. I do blood tests , x-ray and orthopaedic check up if I feel something worsening now.
Pain has always been a problem for me...I used to take nimesulid 100mg but now it is known it has too many side effects and I try not to use it. Once I took it once a month when I felt a lot of pain (eg. after walking too much) and I felt well for hours. But now I feel bad even if I take nimesulid, so I am not using it anymore. I take ibuprofen 200mg when I feel really bad but pain is not killed.
I did physiotherapy lately but I felt too much pain. I swim or do aqua gym, but after it I feel a lot of pain, even if it is only 40 min. long. I feel worse after physical activity. As I told, I can swim. While I am in the water I feel really well. Then I feel really tired and like my weight is bigger.
I feel pain even for walking 1 meter. But with not so much pain I can walk 1 km per day.
I always feel joint stiffness at my hips, it is like a big needle in the joint even if I sit down. I feel this pain in every moment at my hips. Not in the other joints, there I rarely feel joint stiffness.
I can climb stairs but feeling pain.
My pain list could be:
Hips 10, knee 8, shoulder 3, elbow 3, hands 3, ankle 6, spine 2
I use both sticks and wheelchair. Those improve my life quality a lot because I feel less pain. I use it when I travel or visit museums.
I have the Dominant MED form.
I have COMP mutation, deletion of three nucleotides. It was done by European Skeletal Dysplasia Network, Jason Kennedy was the Clinical Molecular Geneticist, Manchester Children’s University Hospital. This file was reported to dr. Michael Briggs of the Centre for Cell-matrix research, Manchester. This test was requested by Dr. Maja di Rocco, pediatrician, Giannina Gaslini Hospital, Genova, Italy.
My brother and dad carry my same mutation.
I would like to try hip replacement and I am in the waiting list because I feel too much hip pain.
I am open to try everything to improve my health condition.
Now I can’t, but when I was little I was able to stay crossed legs.
I also have scoliosis and lordosis.
iI've never had clinically diagnosed depression, but of course I suffered a lot in my life for my condition, because I am different from the other people and I can’t do everything my friends can do everyday.
The message I want to share with other MED people is:
Even if this is a rare disease, you are not alone! We are special!