Genetic Discrimination

1/4/2013

Have you experienced genetic discrimination?

Caitlin

2/5/2013 11:14:10 am

My daughter was diagnosed with full trisomy 18 while I was pregnant. When I was 26 weeks along, I developed a blood lot in my leg. Some brilliant Dr jumped to a bizarre conclusion that I had a rare clotting disorder. They said I would have to induce in order to fix the problem and that I was risking my life and least serious damage in my leg by waiting more than a week. Even a normal child would not have developed lungs at this point so we were preparing to lose our daughter and hoping for any amount of time with her. They figured out I had a typical blood clot, not uncommon in pregnancy. They all still stood by their opinions about induction. We felt like we had not choice. They night before induction one of our doctors was explaining treatment after I had the baby and it was the same as the treatment I was already receiving. We then found that women have blood clots for months during pregnancy and often deliver at full term. There would be minor damage to the vein in my leg but there was very little chance I would have serious consequences if I continued my treatment. The other doctors did not even give us the option of waiting to deliver because they did not see the value of my daughter's life because of her diagnosis. They would never recommend that route to someone in that situation with a healthy baby.

Brandon

2/11/2013 02:57:44 am

I am so sad to hear your story. Is your baby still alive? Our society definitely needs to change

Chris mitchell

10/20/2016 05:50:02 pm

Brandon, are you still allowing people to talk to you? I have a beautiful 72 day old granddaughter, she has full t 18, but she is still hanging in there, God has been amazing in His mercy. Her mom and dad just had the swab test done and were surprised when it came back full t 18, doctors were too.. She really shows mosaic tendency. Any way they could use someone to talk to.... can you be any help in this?

Krisitn Smith

2/5/2013 02:45:23 pm

My daughter has Full Trisomy 18 and has definately seen her fair share of genetic discrimination. She is only 11 weeks. When I was given her diagmosis prenatally, not only was I told I should terminate, they nearly made me feel like they were going to make me. I was sure that they were going to strap me down to a table and rip her out of me. When I made it very clear that I wouldn't terminate, I recieved a phone call a few days later asking if I was ready to schedule the termination.
Once she was born, I was told they wouldn't do anything for her becuase of her Trisomy 18. She needed heart surgery and they said no. Finally a wonderful doctor convinced the heart surgeon to repair her heart, but it was 2 weeks later than it should have been done. She came out of the surgery succsessfully, but a week later required a pace maker and a week after that required a diaphragm ligation, both complications from the heart surgery, She's recovering now and doing better and better. Without that heart surgery, she wouldn't be here today.

Brandon

2/11/2013 03:00:25 am

I am so glad that you stood up to them and for the rights of your baby. I can't believe that people would actually do that. How old is your baby now? God bless your whole family.

Kristin

2/19/2013 04:07:49 pm

She is just 3 months old.

Freda Branch

2/6/2013 05:56:04 am

Our daughter has partial trisomy 9p, with the extra genetic material located on the 14th chromosome. We've been lucky that she never has been denied medical treatment (except by dentists). But she has been the object of censure by a few professionals. When she was born, one of our pediatricians said very matter-of-factly, "You know she'll never walk or talk." I was stunned by their insensitivity. How could they truly know that, and why would they so bluntly make that statement and just walk away? From then on we asked for one of the other doctors on staff. And when Bethany was turning 3, and we were pregnant with our second child, my own G.P. asked me, "Why would you ever want to have another child after that one?" His denunciation of my daughter's worth deeply injured me. Most people understand that every child is valuable and has something special to offer. To hear these once trusted doctors criticize my daughter was deeply injurious to my heart.

My daughter is now 33 years old. She learned to walk well when she was just 4, and speaks in many different ways--with her iPad, with gestures and sign language, and with her smiles.

Brandon

2/11/2013 03:04:53 am

It makes my heart sad too. Doctor's told me that I would never walk or talk. I agree with you that every life is precious and doctor's should not make those kind of decision. I am so glad that you are enjoying your time with your daughter.

Analice

11/30/2013 04:32:31 am

Hi, I am Analice and i have a little baby that name is Catarina
She is only three months and she was diagnosis trisomy 18
She is nice and next friday will complete 3 months.
I would like to know more things about trisomy.
There are some questions that I have,
will be very comforting to my heart if you can help me.
What characteristics of trisomy 18 affected you and your family? What interventions did the family use or receive and what interventions did you like for you and your family? What recommendations do you or your family have for educators working with children who have trisomy 18? What resources can you recommend for other families and educators that will help them understand trisomy 18?
Thank you for Help me
God bless you!!!

Alisha Hauber

2/9/2013 11:10:49 am

Lane Hauber ~ Living Life Full Trisomy 18 Style

Birth Date 12/08/2008

I went in to deliver my son on a beautiful December day in 2008. The pregnancy went smooth, although I had a few abnormalities. I was tired the whole time, I never looked very pregnant, and I had to take several stress tests towards the end. I was reassured everything was fine with my son although he would be a little small. I delivered Lane vaginally and when my husband went to cut the cord, my OB/GYN shook his head and quickly rushed Lane over to a bassinet. I hadn’t heard a cry…then people started rushing in to help Lane breath. While they were working on him, I remember asking my husband what was wrong…he moved himself between me and Lane, and just kept saying, “everything is going to be ok”. Finally, Lane was stable and within hours they were transporting him to the nearest children’s hospital. He was very small, his head was an odd shape, his hands were clenched and so they had suspicions of a chromosome abnormality. I discharged myself from the hospital less than 24 hours after giving birth because I needed to be near my baby. I was scared, confused, overwhelmed…my world was crashing down around me and it was because something was wrong with my baby and I didn’t know how to help him. The first couple of days in NICU, Lane was not stable…he was having apnea episodes. The specialists were running all kinds of tests, and we were just trying to make sense of what was going on. The Pediatric Cardiologist talked to us, saying that Lane has a VSD and an ASD. However, it was a routine surgery and they wouldn’t have any problems repairing Lane’s heart condition. Then…at 3 days old, MY WORLD TRULY CRASHED! We walked into the area where they were caring for Lane, and we noticed a DNR attached to his crib. The nurse immediately brought the doctor in, and that’s when he said the words, “Lane’s FISH test results confirmed a full Trisomy 18 diagnosis”. We asked why he had a DNR and the doctor told us that babies with this diagnosis won’t live long, maybe a few days to a month at the most. We told the doctor that we didn’t appreciate him putting a DNR on our baby without speaking to us first or getting our permission. He told us he didn’t have to get our permission. Then we were told that they wouldn’t be performing heart surgery on Lane…there wasn’t anything more the hospital could do for our son.

At 9 days old, we took Lane home on hospice. He was remaining stable and I wanted him to be at home in our arms when he passed away. Within a couple of days, I had the hospice chaplain come out to the house to baptize Lane…a memory I will cherish forever! Then Lane started having more and more apnea episodes, sometimes he would snap out of it on his own and a few times he required CPR. (I’ve since learned that a common treatment for apnea in preemies is caffeine therapy) The apnea episodes lasted until he was a month and a half old and hasn’t had one since. At two months old, we took Lane in for a cardiac appointment and asked if they would reconsider heart surgery since Lane was getting stronger and stable…again, he was refused. However, we were able to get him in to get a g-tube. At the time, Lane was pulling his ng-tube out daily and we had to do something about it. The surgery went smooth even though the doctors kept trying to get us to change our mind. They said he would never come off the breathing machine…Lane came off immediately.

At 6 months old, we took Lane to another children’s hospital to get a second opinion on heart surgery. We were told by the surgeon that if Lane lived to be a year old, then they would perform a heart cath. to see if he would qualify for heart surgery. We waited…and during this time Lane was taken off hospice at 10 months old because he was doing too well for the hospice services.

At a year old, we took Lane back to hospital. They performed a heart cath and the results came back that Lane’s pulmonary hypertension was too high and they couldn’t risk doing the surgery on him. I can still hear the surgeon’s words, “If you ask me to perform heart surgery on Lane, then you would be asking me to assassinate him.” However, the doctor that performed the heart cath. suggested that we put Lane on Sildenafil (a liquid form of Viagra) to help with Lane’s pulmonary hypertension.

Then…we find out that Lane’s going to be a BIG BROTHER! We were still having issues with Lane vomiting, it seemed like anything would set it off. I was worried because I kept getting bigger and was afraid I wouldn’t be able to help in time…I was afraid he would aspirate. So…after months and months of trying different reflux medications, I convinced the GI doctor to get Lane a nissen fundoplication

brandon

2/11/2013 03:10:57 am

Doctor's can be so cruel! I wonder if they would do the same thing if that was their child. I am so glad that Lane is doing great. God bless you and Lane.

Barb

2/10/2013 10:15:48 am

The discrimination we experienced was covert. We told all staff multiple times, including in a multi-disciplinary meeting, that we wished to consider all treatment that our daughter might need to prolong her life. Annie had trisomy 13, without the common brain and heart anomalies. The staff gave no indication of disagreement with our plan. Annie died at age 80 days, 24 hours after being admitted for respiratory distress. She suddenly declined and we had to make a fast decision about intubation. The doctor had told us that she needed surgery to re-make a narrow trachea and the surgery had a high mortality rate for children without chromosomal conditions. It was clear to us that this surgery was not in her best interest. After Annie died, we discovered that a DNR order had been placed before we provided consent. Lethal narcotics had been withdrawn for her at that time and all the final records were absent. An hour before she died, Annie was on BiPap with normal and stable vitals. What happened?
The Coroner's committee declared that the care was "not appropriate" and that it was "by no means certain" that Annie needed distressful surgery or prolonged intubation. We asked the doctor what his diagnostic basis was for the surgery he had described and he smiled and said, "experience." The hospital apologized.
The greatest discrimination did not come from the medical community, but from the Catholic church which we discovered had developed a protocol 20 years earlier whereby unborn children with trisomy 13/18 and other conditions deemed to be 'lethal" were encouraged to be induced at 24 weeks gestation with medical interventions withheld. How could we expect doctors to look past the label and treat the unique child when the Catholic church was denying all children like Annie from their natural life based only on the genetic label? The Church protocol in now in the form of a national ethics guideline. I hope that it changes one day.

brandon

2/11/2013 03:15:45 am

This makes me so angry! The church is supposed to share Christ's love not murder innocent children. I think we all need to stand up and fight this. I am so sorry about Annie.

jessica cook

4/6/2013 01:29:27 am

Really? THE Catholic church has that protocol? I have never heard of anyone in the Catholic church encouraging anything like that. I am sorry about everything you went through.

jessica cool

4/6/2013 01:34:37 am

Are you talking about a Catholic hospital? I am really curious because I can't imagine that is the Church's position. I know there are some gray areas in the hospitals. I just think that's terrible.

Siri Fuglem Berg link

4/11/2013 05:55:27 pm

My daughter, Evy Kristine, was diagnosed with full triomy 18 in my 15th week of pregnancy. I experienced quite a lot of pressure to abort, but that was not an option for me. Evy was my daughter, with or without extra chromosomes, I wanted to keep her for as long as possible.
We were devestated to know that in my country they refuse fetal monitoring during delivery, they do not perform C-sections to save trisomy 18 - babies. And the hospital where we planned to give birth refused all treatment - even palliative care such as CPAP and tube-feeding.
So just a few weeks before birth we had to find another hospital, where they would at least allow feeding and CPAP.
We were also sadened to learn that t18-babies are not allowed cardiac surgery in Norway. The only reason they give for all these refusals to treat, is "trisomy 18". They refuse to treat each baby independently.
I am therefore trying to change the opinions among my colleagues ( I am a physician myself), trying to make them realize that you can no longer call t18 incompatible with life, it is not lethal.
My daughter lived for three days only - the most beautiful days in my family´s life. I have since got to know several children with t18 - and one grown up. She celebrated her 37th birthday last year! And with full t18. I also know a girl who is soon to be 14 years old, and several other kids in school age, as well as a few babies. I feel so privileged to be allowed to know these children, they show me that my daughter was not a "vegetable" like my doctors tried to make me believe.
I wrote a book about my daughter - in Norwegian, but I hope to translate it into English:
http://www.z-forlag.no/produkt/evy-kristine-retten-til-et-annerledesbarn

I wish you all the best, Brandon!

Sheryl Crosier link

5/16/2013 09:03:12 am

Yes, my son has experienced genetic discrimination. Please read I am not a syndrome-my name is Simon. SOFT receives a portion of proceeds.

Sam N. Sansalone link

7/25/2013 04:10:27 am

One of my daughters, Katya Sansalone, is a person with full trisomy 13. During her neonatal period, world-renowned doctors claimed that she would not make it past a few days/weeks... then they had to 'revise' that to months. Et cetera.

Katya is now getting ever closer to her teen years. More importantly, she keeps enjoying quality life -- in fact, at a very high level of happiness not reached by many (if not most) of those who lack the extra chromosome.

Compare that truth with the "genetic discrimination" lie where they kept claiming that Katya has "a lethal condition" that was supposedly "incompatible with life"... and that we shouldn't count on her smiling, interacting, recognizing her family. As you can see, nothing could have been further from the truth.

This picture will help speak to that 'in a thousand words':
http://www.facebook.com/photo.php?fbid=1470288135403&set=pb.1779622597.-2207520000.1374775048.&type=3&theater

Analice

11/29/2013 04:19:36 am

I have a daughter diagnosed with trisomy 18. She has three months of life. I'm interested in the topic and would like to know if you have translations into other languages?

Sheryl Crosier link

11/30/2013 01:30:40 am

Analice- if you are referring to the book, I am not a syndrome-my name is Simon, it is in English. If you go online to
www.simonismyname.com and under read book there are links to Amazon, Barnes and Noblle that ed. Also if you email me at simonismyname@att.net I will put you in touch with my publisher. What language do you need?

Sheryl Crosier link

11/30/2013 01:31:09 am

Sheryl Crosier link

11/30/2013 01:31:29 am

Sheryl Crosier link

11/30/2013 01:32:02 am

Sheryl Crosier link

11/30/2013 01:32:21 am

Siri Fuglem Berg link

12/1/2013 03:53:04 pm

Analice - I have written a book in Norwegian about my daughter with trisomy 18, but I guess that is not of interest for you. (Just in case, the title is "Evy Kristine - retten til et annerledesbarn"). In addition, I have co-founded an international trisomy 18 and 13 website, with booklets for parents and siblings translated into several languages - for free download - please take a look at http://www.internationaltrisomyalliance.com/free-booklets.html
All the best, Siri

Heather link

11/18/2013 12:45:48 am

I found your profile one SOFT. I was wondering if you could help me do a homework assignment on trisomy 18. I need to do any interview with someone who has trisomy 18. I hope that you will help me. Here are the questions that I need to ask for my interview. For my interview I need to know your contact information so that if my teacher wants to check in on this. Can you give me some background information about your family and yourself? What characteristics of trisomy 18 affected you and your family? What interventions did the family use or receive and what interventions did you like for you and your family? What recommendations do you or your family have for educators working with children who have trisomy 18? What resources can you recommend for other families and educators that will help them understand trisomy 18?

Brandon link

11/19/2013 05:02:15 am

You can email me at brandonsmt18@gmail.com and I will answer your questions. Brandon

Sheryl Crosier link

11/18/2013 04:14:26 am

Heather-I can send you Simon's book that has been published. I have a few from a Respect Life conference I worked a few weeks ago. Or you can order online and get the ebook. If you would like me to send you a print version, email me at simonismyname@att.net
God bless,
Sheryl Crosier

Bobby

12/18/2013 05:29:33 am

Sorry my story is very long but I will try and keep it as short as poss. I live in the UK just after my 42nd Birthday I found out I was expecting my 2nd child. I already have a 10 year old daughter. I will be honest last thing I wanted was a baby I was horrified at first and considered a termination But then a light came on and I remembered what a joy it was to have my daughter and now I had been given the chance to go through all that joy for a second time. I noticed immediately how things had changed in 10 years. With my first pregnancy the midwife came to my home every to weeks to monitor me and baby but now I discovered that I had to go visit her just a handful of times throughout. (NHS cuts I suppose). Now here in the UK I have noticed no one seems to mention the T word. I asked my midwife what are my chances of having a baby with problems? Her reply 'oh don't be silly you have a healthy daughter there is no reason for you to have any problems'. But I am 42? I was offered Downs syndrome screening after all If there was anything else I was at risk of they would tell me wouldnt they? I refused downs screening I told them if I had a down syndrome child I would rather know after birth and cope because I would not be able to kill a child just because it was different. Everything seemed to be going well scans all showed healthy baby developing well. But at 17 weeks I had to go to hospital by ambulance I thought I was miscarrying but scan said all was well still developing normally but I was to take it easy and be checked more often by my midwife. After a couple of days I was aloud home rang my midwife but she wouldnt see me until after my 20 week scan luckily I have a fantastic GP who offered to see me every week so I could listen to heartbeat and just have a general check over. The day of my scan arrived. My husband and I were so excited to see if we were having a boy or a girl. I lay and watched the screen no doubt we were having a boy I already had a girl so one of each. Brilliant for a whole 5 minutes. Then came the end of our excitement. we were sat in a small room A small woman came in and said we have found some abnormalities with your baby I am referring you to a fetal medicine unit. Then the first time I had ever heard the words 'Edwards syndrome' What's that? I asked It's a genetic disorder I was told Do not look it up on the internet! I was handed a leaflet on amniositesis and that was that. A day later at the fetal medicine unit The scan showed very severe internal organ abnormalities. An amnio was done and my scan report said serious quality of life issues. Incompatible with life. I was stunned I had so many scans. Why had nothing shown up on those? My questions were not answered. They way things were explained to me were wrong I was told All Edwards babies DIE. My baby would have a horrific death if he lasted to full term. Every professional that I spoke to said the same Terminate your pregnancy! What do I do?? My baby was jumping around in my belly I had seen him on the scan monitor so many times but now I am being told I will be selfish to keep him? He will suffer I was told again and again yet not one person gave me any info on T18. I went to see my GP the next day he told me to take as much time but again going by what he saw on the scan report he told me the outcome would not be good. My GP arranged for me to go back to the fetal unit in a week to talk things over again with staff before a termination. But my midwife got together with another from my local hospital and cancelled my GP and fetal unit appointment. I was told I had to take a tablet that following day otherwise I would have to commit fetuside. So within 5 days I was diagnosed and bullied into what I can only call Murdering my baby. He was an 11 hour labour just 21 weeks he was still born but so beautiful even more handsome than his dad we had him blessed I named him after my dad who past away in 2006. I asked for a postmortem to be done. He was born on 4th Aug we didn't get his body back until November 3 long months. Then came the post mortem report. I am sure you can imagine my horror ad I read through it. All internal organs NORMAL! brain NORMAL. All he had was cosmetic hair lip small low set ears etc. No one can tell me why there are so many discrepancies in scans and post mortem. Genetic says mosaic trisomy 18! My GP says he was definitely NOT Incompatible with life. Now I am fighting to raise awareness and educate staff. My son should be here his due date was last week. But so much ignorance and misinformation amongst the people I should have been able to trust. Even now in meetings with consultants I am still told Well he would have died any. Just today a genetic consultant told me only mosaic trisomy patients with less than 50% have any chance of life. I will fight now till I draw My last breath for the sake of my son. If I can educate just a hand full of professionals and save a family going through the hell that

Brandon

12/21/2013 03:04:07 am

I am so sorry. Thank you for fighting for truth. I will continue to fight too!

Kiku

2/13/2014 12:11:10 am

Dear Bobby,
I am so sorry to hear your story! I am pregnant (26 weeks) and about a month ago I was informed that my baby boy has Trisomy 18. I also felt bullied to have an abortion but I just coudn't do it. Doctors tried to hurry me saying the same things about fetuside. In my state of shock and pain I had to actively look for doctors and a hospital who would support me and my baby through pregancy and birth. Only the 7th doctor I spoke to told me the words I longed to hear: "You don't have to do this!" (She guided me towards a christian hospital after I had been turned down by two public ones.) I hope for every mother with this diagnosis that she will find someone who will tell her the same, so she at leasts has the option. At that time I thought I will keep my boy for as long as he can make it on his own. I tried to learn more about his state and similar to your baby until now his organs and brain seem normal, it is just things like a split lip and club feet, so now whenever another doctor starts his speech with "incompatible with life" I strongly disagree and will ask utmost medical care for his birth and after, since doctors seem to believe they do you a favour if they don't help babies with trisomy 18. What also pains me is that I have to take this journey with my baby without his father since he decided to stay away. I am often worried that I might run out of strength or it might become too hard but my goal is to prove doctors wrong and to have my baby boy smile at me! Thank you Brandon for your website! You give hope and you are very brave and so are your mum and dad! Bobby, keep on fighting!

Brandon

2/14/2014 01:51:50 am

Kiku, may God give you the strength you need.

Nicole Fox

3/17/2014 04:04:52 pm

My name is Nicole 21 and I am 14 weeks pregnant with my first child. When I was 10 weeks my doctor set up and routine ultra sound and he found fluid around my babies head. He sent me to another city to see a specialist for another ultrasound. They called it "Cystic Hygroma" the Doctor was very nice but told us it could be from a genetic issue. He ordered a MM21 blood test. A week later we got the news my baby has Trisomy 18. My regular MD set up an appointment to go over my options. First the nurse didnt even know why I was there and said "oh was it a hormone test" then after i told her my baby had trisomy 18 she looked at my mom like I wasnt there and asked "How I was holding up" then the Dr came in. First, he asked if i knew that Medicaid in my state would NOT pay for an abortion. he than told us how MUCH one would cost. he recommended coming up with the money to pay for one because my child would be Incompatible to life. My mom told him that I didnt want to abort my baby anyways because I wanted to hold him/her. His answer " You do know your baby is going to be disfigured and not pretty?" I live in a small town and all I am asking for is for my choice to be respected and for me and my baby to be treated with dignity. They say that my Daughter ( yes she is a girl which we saw on the report, the MD didnt tell us) isnt going to live or be a "contribute to society" therefore she doesnt deserve a fighting chance at life. Im looking for the right OB/GYN and Pediatrician that will just help me and my daughter.

Andrew Siebert

3/23/2014 10:55:09 am

So, our daughter Janessa (FT18) is scheduled for heart surgery on April 2 to correct her AVSD and DORV. This is miraculous, because we were told a year ago by a cardiologist from the Edmonton Stollery Children's Hospital that if our baby had Trisomy 18, they would not offer heart surgery for her. We have tried to respectfully advocate for treatment based on her individual situation, not the genetic label, and thank God that our daughter will be able to have corrective surgery in her home province.

The Edmonton Stollery has a very negative reputation for treating Trisomy 18/13 babies, so we are praying for protection and a positive outcome that will be helpful for other Trisomy babies in the future (this hospital provides heart repair services for most of Western Canada, so offering treatment is pretty significant). To our knowledge, none of the cardiologists are in favor of surgery, and two out of three surgeons refused also, but Dr. Rebeykah agreed to operate - he told us that there is controversy about treatment, but he is willing to do what the parents want!

You all have been a big encouragement and support, showing that treatment does have good results, showing so many pictures of Trisomy babies who are smiling and enjoying life, and giving advice! Thank you so much! I'll try to keep you posted how it goes.

Lindsay Saiki

10/24/2014 03:50:18 pm

Andrew, I have a 10 week old daughter with T18 and she also has DORV with a VSD. We never expected her to live this long and we were not planning on pursuing any surgical solutions, but the longer she is with us, the more we are thinking about it. She has an NG tube, but otherwise requires no additional assistance. She eats well and is growing. May I ask how the surgery went for your daughter? Can you give any advice?

Michael

3/25/2014 10:50:35 am

At about 16 weeks my wife and I were told by doctors they suspected trisomy 18 in our daughter as they found a couple soft markers which on their own were not considered fatal. They had even said the ventrical septal defect was repairable and was 90% successful. However because they suspected Trisomy 18 we were told no surgeries would be considered and pushed us to have an amneocentesis as we were getting close to 21 weeks and then we would be to far along to legally have an abortion. We explained an abortion was not an option and we would love her no matter what special needs she had. We were also told not to research trisomy 18 online, which I never really understood why?.....Perhaps so we did not get even more stressed out?.....Or so we did not find out some children with trisomy 18 were living longer and doing well after surgeries. I felt Genetic Discrimination when they said they would not conduct heart surgery because she had trisomy 18. I never understood why they could not treat the person or the condition? My daughter was born on February 9, 2014 and survived 5 weeks 1 day. She had heart issues, which could have been corrected but because of the trisomy 18 diagnosis they sent us home. After 2 weeks at home and her heart working overtime trying to pump blood with the valves not closing properly she passed away peacefully at home. I am certain she died of congestive heart failure. That morning she had fluid building on the lungs and coughed up some mucus earlier with some small amounts of blood. She was so precious and a huge blessing to our family my prayer is that doctors give parents all the information they can to make the best choices for our children and especially treat each case individually and treat the symptoms!

Wilma Bates

5/14/2014 06:48:22 pm

I just recently found out that my 10 year old son has Mosaic Trisomy 18 i have been fighting for him since he was 10 months old when I knew there was something wrong. Brandon was different then my other kids. When he was a year i finally got someone to listen to me and started getting help through the Regional Center but then when he turned 3 they dropped him because he wasn't mentally retarded they said so Brandon was given an IEP and the school district took over, however when he started kindergarten his IEP was taken away and my baby struggled so bad in school. I was living in Los Angeles at the time and wad getting no help for him so I moved to Orange County and got Brandon in a really good school with teachers and people who cared and helped me to get Brandon tested for all kinds of stuff. First they said he had A.P.D. Auditory Processing Disorder and then that he also had ADD- Attention Deficit Disorder and he was put on Ritalin we were finally sent to see a neurologist who took one look at him and believed that he may have Trisomy 18 and sent us to Genetics where he was tested and a week later we were told that our son has Mosaic Trisomy 18 and that his is a very rare case and that there are only 35 cases reported in the medical literature. The Genetics Doctor was very nice and explained it to us very well however this is pretty new to them that they can't really tell us what we have to look foreword too except that he will need surgery on his back in the future and surgery to correct his speech and that he may need to be taken care of for the rest of his life. I was 42 when I had Brandon, not a planned pregnancy but a blessing just the same. I was never checked to see if my baby was okay however if i had been it didn't matter what they told me, I would have had him anyway and put it in God's hands. I am just really mad that it took 10 years for someone to get the right diagnosis and Brandon missed out on all those years that he should have been getting help. Please keep Brandon in your prayers he is a fighter that is for sure and such a caring and loving little man. He is my gift from God....Please if anyone has any ideas on how his school and i can best help him please put them out there...

Johanna Aranguiz link

7/8/2014 12:24:19 am

Great lesson in perseverance and greatness ... thanks Brandon for existing and giving us the power to continue in this difficult journey...

Johanna Aranguiz

7/8/2014 01:55:23 am

Our baby Agatha was born two and a half ago, we didn't know about her diagnosis until her birth. It was terrible to face this news and we didn't know anything about mosaic trisomy 18. The first words that Doctors told us were "incompatible with life"....which completely devastated us!!.
She spent 20 days at the division of neonatology and then Doctors considered better to take her home to enjoy their last days with the family ... it was like taking her to die with us. We had a mixture of happiness and a huge pain having her at home...we couldn't understand Doctors diagnosis because Agatha was growing, gaining weight. She looked like a normal baby who was determined to live!!

When she was a month old, she started with multiple apneas. We took her to the emergency and Doctors said the time of death had arrived and we had to leave her at the hospital waiting the moment she leave this world...after two days Agatha recovered and tests showed that apneas were caused by a cold. Her nasal passages were blocked and she couldn't breathe...that was all!!!, but the Geneticist organized a meeting with all the doctors and us to explain us Agatha's diagnosis again , she insisted that the mosaic trisomy 18 was a sham, that having 75% of commited cells was the same as having 100%, that all children died before one year of life and finally told us that they had decided Agatha should not receive medical help to prolong her life or advanced resuscitation in case of cardiac or respiratory problem.
They sent her to a room in the division of pediatric where she was under our care until the time of his death arrive.
After 5 days, Agatha was fully recovered and healthy.same baby as before the cold...apneas never come back!...at that point we decided to bring her home and leave behind the ordeal in the hospital. (It's called Hospital clínico Universidad Católica UC Christus...yeah!!! A catholic hospital that doesn't do anything with children when they have trisomy 18 because they are incompatible with life, so is easier mark them as hopeless cases).

Sadly, dear Brandon, here in Chile many children die, but rather than diagnosis,is the abandonment of doctors who doesn't want to do anything for them. I know many more cases like Agatha and worse, families who have "special children",meet and try to help each other...we have no choice!!...

Thank you for sharing your life experience with us, undoubtedly you give us encouragement to continue fighting for our little angels ..... thank you very much Brandon for being the miracle we need!

Johanna Aranguiz link

7/8/2014 01:55:40 am

Virginia Monson

1/23/2015 06:44:06 am

Before yesterday I never heard of, or knew anything about Mosaic Trisomy 18. I periodically listen to a local talk show out of Trenton, NJ, 101.5. I don't remember what the call-in question was, but I do remember the person who called in. He was a father of a young boy. He mentioned that his son has MT18 and was in special ed, but mainstreamed for 2 classes, one of which was Science. What bothered me was the inconsideration, and the ignorance of the radio hosts. While the father was talking about his son and MT18, the hosts were speaking over him. The female host while talking over the father jokingly said to the father that she too has MT18. The father is trying to get them to understand what he son has to deal with in school and they continued to joke, the female host now saying they had 101.5 syndrome. I want to apologize for their ignorance and bad taste. I now needed to know what Mosaic Trisomy 18 was, but I wasn't sure of it's name. I could only remember that it was called Mosaic Tri...18. I stumbled across Brandon's website and I learned a lot. You are a beautiful young man. You are not a statistic and I thank you for teaching me about MT18.

Rene

11/9/2018 08:38:46 pm

I will comment when I have the strength. Just want to say THANK YOU!

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