Welcome to LAL-D Aware. I'm a genetic counselor in the USA, and I worked with enzyme replacement therapy for several lysosomal storage conditions, including CESD.
We followed two patients who received Kanuma for over a year, and I know several other patients receiving Kanuma. It is well tolerated, normalized cholesterol levels and decreased liver enzymes for our patients, and even appeared to reverse some liver disease. Enzyme replacement therapy (ERT) also helps people feel better in general. It is too early to say for Kanuma, but for other lysosomal storage diseases with long term treatment data available, it helped children grow better so they reached normal stature like their parents, and prevented many of the more serious complications. It also helps alleviate gastrointestinal symptoms which can be severe for some patients.
Most patients see an elevation in serum cholesterol soon after starting Kanuma when the trapped cholesterol is initially freed from the liver, and then in a few weeks cholesterol levels normalize.
If your son was symptomatic when he was a toddler do not postpone starting enzyme replacement therapy, since this is a progressive condition and it is important to prevent disease progression before serious complications or liver failure occur. There is no downside to enzyme therapy other than that it is expensive or in the rare instances when a patient has a hypersensitivity reaction (allergic like reaction) but this is more common with the infantile form when patients have zero working enzyme activity. For CESD, most people have some residual enzyme activity and so their bodies do not recognize the enzyme as a foreign antigen as the infants sometimes do.
The infusions take some adjusting to at first but soon become very routine. For small children it helps to have a port placed so that venous access is easy and painless, and so the children are not afraid to have the treatment. Children can walk around, play and eat while receiving the infusions.
As for special diet, low fat diet is probably a good idea, but will not really impact the disease. For infants a special formula called MCT is recommended but for children normal diet is fine.
If you have other children they have a 1 in 4 chance of also having LAL-D so should be tested. If you will have more children you may wish to talk with a genetic counselor.
Please do not hesitate to let me know if you have any questions or would like additional information. I'm sure you will hear from patients about their experiences soon!
I hope your son is on the way to recovery, and feeling fine.
Dear Donna,
thank you very much for your feed-back. It' s so hard to realise noone in country knows anything about your disease(((
My son was 3 when we first applied to hospital with symptoms. It took 1.5 year to be diagnosed. We found a specialist in Russia who helped us to find the right diagnosis as doctors in our country did not know how such patients look like.
Donna, I kindly ask you to give the honest answers to the following questions even if they are scarry:
-how fast does the disease progress?
-is it progressive in all patients?
-what is the life expectancy for such patients?
-can we afford ourselves to wait one more year before being started treated by Kanuma?
As I have written we did not get financing for treating by Kanuma in 2018(( We shall argue with our government but noone guarantees succeess...
Vanya is the only child in our family. We want to have more but are afraid to repeat the story. I know there is prenatal diagnostic. Do you know if it givez 100% right result?
Regards, Tanya
Donna Lee
Hi Tatyana-
Welcome to LAL-D Aware. I'm a genetic counselor in the USA, and I worked with enzyme replacement therapy for several lysosomal storage conditions, including CESD.
We followed two patients who received Kanuma for over a year, and I know several other patients receiving Kanuma. It is well tolerated, normalized cholesterol levels and decreased liver enzymes for our patients, and even appeared to reverse some liver disease. Enzyme replacement therapy (ERT) also helps people feel better in general. It is too early to say for Kanuma, but for other lysosomal storage diseases with long term treatment data available, it helped children grow better so they reached normal stature like their parents, and prevented many of the more serious complications. It also helps alleviate gastrointestinal symptoms which can be severe for some patients.
Most patients see an elevation in serum cholesterol soon after starting Kanuma when the trapped cholesterol is initially freed from the liver, and then in a few weeks cholesterol levels normalize.
If your son was symptomatic when he was a toddler do not postpone starting enzyme replacement therapy, since this is a progressive condition and it is important to prevent disease progression before serious complications or liver failure occur. There is no downside to enzyme therapy other than that it is expensive or in the rare instances when a patient has a hypersensitivity reaction (allergic like reaction) but this is more common with the infantile form when patients have zero working enzyme activity. For CESD, most people have some residual enzyme activity and so their bodies do not recognize the enzyme as a foreign antigen as the infants sometimes do.
The infusions take some adjusting to at first but soon become very routine. For small children it helps to have a port placed so that venous access is easy and painless, and so the children are not afraid to have the treatment. Children can walk around, play and eat while receiving the infusions.
As for special diet, low fat diet is probably a good idea, but will not really impact the disease. For infants a special formula called MCT is recommended but for children normal diet is fine.
If you have other children they have a 1 in 4 chance of also having LAL-D so should be tested. If you will have more children you may wish to talk with a genetic counselor.
Please do not hesitate to let me know if you have any questions or would like additional information. I'm sure you will hear from patients about their experiences soon!
I hope your son is on the way to recovery, and feeling fine.
Best wishes,
Donna
Oct 20, 2017
Tatyana
thank you very much for your feed-back. It' s so hard to realise noone in country knows anything about your disease(((
My son was 3 when we first applied to hospital with symptoms. It took 1.5 year to be diagnosed. We found a specialist in Russia who helped us to find the right diagnosis as doctors in our country did not know how such patients look like.
Donna, I kindly ask you to give the honest answers to the following questions even if they are scarry:
-how fast does the disease progress?
-is it progressive in all patients?
-what is the life expectancy for such patients?
-can we afford ourselves to wait one more year before being started treated by Kanuma?
As I have written we did not get financing for treating by Kanuma in 2018(( We shall argue with our government but noone guarantees succeess...
Vanya is the only child in our family. We want to have more but are afraid to repeat the story. I know there is prenatal diagnostic. Do you know if it givez 100% right result?
Regards, Tanya
Oct 21, 2017