Author Topic: Heritdary amyloidosis  (Read 3551 times)

Manderino

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  • Reason for joining: Patients wife, my husband has been diagnosed with attr amyloidosis
  • Diagnosed: 8 weeks ago
Heritdary amyloidosis
« on: September 29, 2017, 08:06:10 pm »
Hi my names mandy, my husband tom, has been diagnosed with hereditary amyloidosis, about 3 months ago, he's been to the royal free for checks etc, we've now been told that our son, who is 23, should regularly get his blood pressure and urine monitored. He knows his dad has amyloidosis, but we've yet to tell him that it's hereditary, and I'm not sure how I'm going to tell him.  As regards to the monitoring, how often should he be getting his blood pressure and urine monitored? I would be grateful for any information give. Many thanks 🙏

Miriam Vered

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Re: Heritdary amyloidosis
« Reply #1 on: September 30, 2017, 06:37:48 pm »
Hello Mandy
Welcome to the forum.
Do you know what type of hereditary amyloidosis your husband has? The various types of hereditary amyloidosis are very different illnesses.

Linda Dunn

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  • Posts: 2
  • Reason for joining: I have lysozyme hereditary amyloidosis
  • Diagnosed: Boston Medical Center Amyloid Clinic
Re: Heritdary amyloidosis
« Reply #2 on: October 01, 2017, 11:33:11 am »
Hi Mandy,

I also have hereditary amyloidosis. Mine is of the lysozyme type.  I didn't know at the time that there were other members of my extended family who already had been diagnosed so for a while I was alone with my diagnosis.  My daughter was about the same age as your son when I was diagnosed. She went with me when I first went to the Amyloid Clinic in Boston. So she knew that I had amyloidosis from the beginning.  I do not feel it is my place to give you advice, but I can tell you about my own experience.

My philosophy, since I've been an adult, is that it is better to share this kind of information in a family. Growing up my family kept a lot of secrets and it made me feel left out, like they didn't think I had grown up, and I think this distanced me from my parents and other family members. Also since this is a disease that may affect my daughter I thought she should know as soon as possible.   I don't remember how we told her, but it was already obvious to her something was wrong (weight loss, many doctors visits, etc.) She knew something was amiss so she began asking questions. When I knew it was amyloidosis, but not yet knowing that it was hereditary, we talked about it. And since my husband was unable to accompany me to the Boston Clinic, she offered to come along.  Yes, it was hard to talk to her, but she really wanted to know what was going on. And she took her first steps in sharing her parents' situations and the opportunity for her to help out and learn about care taking for the future as we age.  I found that this was a very important step in her growth and also it made us all closer.

Two things about hereditary amyloidosis. The first is that a child has only a fifty percent chance of inheriting the mutated gene from his parents. The second is, if it is inherited, it may never manifest itself in a full blown disease.  So if told, he would have the choice of being tested for the mutated gene or not. My daughter chose not to be tested as there is a large chance that even though New York state, where we live, is now able to protect people with pre-existing conditions from being unable to get health insurance there is the possibility she may someday move to another state which does not or this protection may be eliminated for the states by federal laws (no universal health care here!!).

It may not be easy to have this talk with your son, if you chose to do so.  He may have lots of different emotional responses to your sharing this knowledge with him.  But it may be harder to keep this from him as time goes on.  And he may feel, as I did, left out of the family situation. Also if he chooses to get tested, he may not have the mutation and then there would be no need for him to watch out for signs of his having getting amyloidosis. These are my beliefs and experience. If they help you to make a decision one way or the other, I will be glad I shared my story. Good luck to you and keep in touch.

All best wishes,
Linda

Roger Curlett

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  • Reason for joining: hereditary ATTR amyloidosis patient
  • Diagnosed: March 2015
Re: Heritdary amyloidosis
« Reply #3 on: October 01, 2017, 10:24:21 pm »
Hi Mandy,
I too have hereditary ATTR and I have two children aged 25 & 21, both have a 50% chance of inheriting my faulty gene.
My symptoms only surfaced when i was in my 50's and all of my family know everything I know about the disease, luckily my two sisters didn't inherit.
My children have chosen to avoid testing yet as this could affect things like mortgage or life insurance applications - they may feel differently if/when they're ready to have children themselves.
They don't get monitored for bloods/urine etc., but know my symptoms and know what to look out for.
Good luck to your family - stay strong.
Roger

Miriam Vered

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Re: Heritdary amyloidosis
« Reply #4 on: October 02, 2017, 08:46:28 am »
It is likely that Mandy was told that her son should have his blood pressure and urine followed because her husband has a type of hereditary amyloidosis that affects the kidneys such as Afib amyloidosis. High blood pressure, or abnormal findings such as protein in the urine may be an early sign of kidney disease. ATTR amyloidosis is less likely to affect the kidneys.


I've discussed this with Professor Hawkins, Director of the NAC - this is his comment:


Very grey area, for which no very specific advice can be given.  I tend to suggest that occasional BP and urine tests would be a very reasonable occasional health check for the general population, given the high prevalence of hypertension (and common serious consequences) in the general population.

Pat

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  • Reason for joining: Hereditary ATTR H90D Diagnosis
  • Diagnosed: May 2017
Re: Heritdary amyloidosis
« Reply #5 on: October 02, 2017, 09:53:32 am »
Hi Mandy, I was diagnosed with Hereditary H90D TTR Amyloidosis in June 2017.

My first visit to NAC was at the end of May 2017 when I was informed that I had Amyloidosis, at that stage NAC were not able to diagnose what type of Amyloidosis I had. My wife and I were invited back to NAC at the end of the June 2017.  We have a 20 year old daughter and we didn't have a conversation with her about my initial diagnosis in May 2017. We made this decision not to tell our daughter as she was sitting her end of year exams at Plymouth University. We felt so guilty about not telling her about my diagnosis, it was also an extremely stressful period as we worried constantly about our daughter finding about my diagnosis from a third party.

When we eventually told our daughter that I had been diagnosed with Amyloidosis, her first words were that she wanted to come to NAC on 22nd June 2017 for the final day consultation. I am so glad that our daughter attended the consultation meeting as she was fully aware from that day of the my diagnosis and impact it would have on my life and the possible impact on her life.

There is no easy way to tell your son, and I wish you all best for that very painful conversation you will have with your son. All I can say is that it is so much easier now being able to involve our daughter with my medical condition and updates. Recently I saw Professor Rilley at Queens hospital, London who diagnosed me as having peripheral neuropathy another side effect of the strain of Hereditary Amyloidosis that I have. After that diagnosis my wife and I gave our daughter that news straight away. That was a very difficult conversation to have with our daughter but made easier in the knowledge that she was just being appraised of another chapter in my medical condition.

Good luck

Patrick

« Last Edit: October 03, 2017, 08:42:15 am by Miriam Vered »

Manderino

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  • Reason for joining: Patients wife, my husband has been diagnosed with attr amyloidosis
  • Diagnosed: 8 weeks ago
Re: Heritdary amyloidosis
« Reply #6 on: October 02, 2017, 05:55:00 pm »
Many thanks for taking the time to comment on my post, I'm going to sit down this evening and explain everything to my son, once again thankyou x