Hello - Son with Pearson's Syndrome

Hello,

My son has been diagnosed with Pearson's Syndrome, which is Mitochondria DNA deletion.  It is very rare (less than 100 cases) and I was wanting to see if there was anyone else here that had the same Syndrome.  I know it is not exactly the same, but it has some of the same underlying issues.

Michael, Father of Connor

kayjay's picture

kayjay

12/05/2008

Hello Michael, Let me do a search for you as well through some of my connections and other metabolic organizations to see if I can find you another family that is aware of Pearson's Syndrome. I will be sure to post here if I am able to locate anyone. Be well, Kayjay
jfk's picture

jfk

12/16/2008

Regarding your inquiry on Pearson' Syndrome, may I recommend that you contact Madisons Foundation. This group has been very helpful in connecting families affected by similar disorders - specifically Pearson's Syndrome among them. Here is the website link. Best wishes. http://www.madisonsfoundation.org/ Jack K. Lymphangiomatosis & Gorham's Disease Alliance
lise's picture

lise

01/13/2009

Hello kayJay and Michael!

Winter greetings from Tromsoe, Norway.

My son Henrik got diagnosed with Pearsons syndrome january 12. 2009, very recently... The preceeding three months of unspecified anemia and testing was tough enough, but nothing prepared us for this.

Me and my husband would very much like to get in touch with other families/ parents with the same diagnose, as it is extremly rare, and we hope to find some sort of comfort or answer in connecting with others who are up to the same type of challenge in their lives. Some other diagnoses are quite similar in many aspects, but as Michael states; not the same.

We sincerely hope you, or anyone reading this, can aid us in finding counterparts out there, and put us in touch with e.g. Michael, father of Connor.

-Lise

momofsaa's picture

momofsaa

02/11/2009

Dear Michael and Lise, I, too, have a Pearson's child. This message will be short but I'd like to start a greater exchange with the two of you and any others we can find with this disorder. We received our diagnosis at 11 mos of age on December 15, 2008. I have exchanged e-mail's with Dr. Pearson as has my hematologist. I'd like to know more about where you are as far as health and information of your children. Kathryn
mlmcarthur's picture

mlmcarthur

03/21/2009

Everyone,

Thanks for the replies.  It would be nice if we could talk more directly.  If you would like, please email me at: 

mlmmaps-123@yahoo.com

Michael, Father of Connor

lise's picture

lise

02/20/2009

Hi Kathryn and thanks for your reply.

I got very excited when both of you responded in the forum! We really look forward to talk to someone else in very much the same situation as ourself. Our som Henrik was diagnosed january 12. this year, at the age of 13 months. We have been in contact with Dr. Bindoff in Bergen, Norway; specialist in mito-diseases. But many questions are still unanswered, and many new are still to come. The best thing to do is probably talking to others in the same situation.

We will talk more through email...

Can you please forward your reply to jegervatn@yahoo.no

Best regards,

Lise

 

 

 

christatrudeau's picture

christatrudeau

05/12/2009

My best friend's son has just been diagnosed with Pearson's. He's being treated at yale New haven hospital and she just met Dr. Pearson himself last week. She wants to find other people who she can talk to about her son. He's 21 months old. Initially he was diagnosed with Bone Marrow Failure Syndrome. He was just diagnosed with Pearson's a couple weeks ago. They have 3 other children. I am going to write down all of your emails I see above and send them to her. I am so so excited to have stumbled on this site!!!!!!! sincerely Christa
Mikeys Mommy627's picture

Mikeys Mommy627

05/14/2009

Thanks for giving me this site to go on Christa you are an amzing friend I'd be lost without you...I LOVE YOU SO MUCH!!!

Mikeys Mommy627's picture

Mikeys Mommy627

05/14/2009

Hi My name is Melissa My son is Michael he also has been diagnosed with Pearson Syndrome I have just met Dr. Pearson last week he is actually an amazing man he is from Yale New Haven Hospital where my son is admitted right now we have been here this stay for 2 weeks already. We are constantly beng admitted for something he is getting worse so fast I'm scared to death I hear he won't live to long like this I need to talk to some more parents with children like mine. Please get back to me tell me I'm wrong and My Mikey will be ok!!!!!Please!!!

Tina_EvesMum's picture

Tina_EvesMum

05/14/2009

HI I am sorry I can give you no promises. Our daughter does not have a name for her condition although mitochondrial...she too is deteriroating fast and it is a scary place to be. Just wanted to let you know your fears and hopes are normal and you are not going crazy! Sending love and higs to you from the UK.
Kylie's picture

Kylie

05/18/2009

Hi all, I thought I would make contact with you all as I also have a son with Pearson's Syndrome. We live in Australia and have not met any people here with the disease. I have made contact with Lise but I am happy to hear from any of you. Aidan is almost 9 months and was diagnosed last month when his haemoglobin levels dropped into the 40s. Aidan was born at 26 weeks and as a premature baby received many blood transfusions. It was not until recently that doctors discovered his anaemia was not due to prematurity but due to Pearson's. A DNA test confirmed the diagnosis and we are now trying to get our head around what it means. Aidan has just received a central line so he can have monthly blood transfusions. The hardest thing is not knowing how long he will live for and what symptoms are yet to come. As I am also new to this disease I can't provide any hope but I do understand the immense grief your are feeling. Feel free to message me or email me at kyraf@yahoo.com Kylie
LGlasbergen's picture

LGlasbergen

05/18/2009

Hey, Kylie, Welcome to Mitoaction. I'm new to Mito, as our 15yr old daughter has recently be diagnosed. I too have the same fears, will her sypmtoms get worse? will she be able to live independantly some day? My husband thinks I over react or worry too much. I don't think he has the time to think more into the future as I do, now being home fulltime again to care for our daughter. She doesn't feel sick, so I worry she doesn't listen to her body, when she tires ect. Plus being a teen, she can have attitude. You son a different form or mito and I can't imagine what you are going thru. BUT here, you are not alone! Hang in there. -Lisa
sharon_alan's picture

sharon_alan

06/05/2009

Dear all,

I have just stumbled across this site and I am so glad that I have. Our son who was 2 in March 09 has been diagnosed 100% pearson's syndrome  with large scale deletion of DNA. We have waited many agonising months for this test to come through and we got that devasting phonecall from Great Ormond Street hospital only yesterday.

My son's name is Shay who was born a very healthy 9lb baby. No sign of anemia or other health problems. He was breastfed for 8 mnths and we noticed a change in his health from 14 mnths old. Up until this time he didn't suffer from infections etc

One of the first signs of Shay becoming ill was how pale he was after months of hospital A&E visits and being told he has  chest infections etc. They finally decided to take a blood test last November. His Hb was 3.1 and they blamed us his parents of him having a poor diet. The idea of this was completely shocking to us as he has always had home cooked food etc. All the local hospital done was put him on iron supplements and sent us on our merry way.

December 08 we decided to go private and within a week he had a blood transfusion and bone marrow aspirate. This showed Shay's bone marrow was abnormal and GOSH thought it was MDS (Myelodysplasia) which is rare in a child but not as rare as pearson's.

Shay has been having transfusions since January they started of 9 wks in between now they are every 4/5 weeks. We have an appointment next Tuesday at GOSH and it has been a blessing to have found other families who are going through the same as us.

We are still in shock at this diagnosis and have so many questions yet still to be answered if they can ever be.

Everyone please feel free to email me as I feel we can all help eachother and learn from our own experiences to help others who are going through the same.

  sharon_alan@  hotmail.co.uk

Sharon & Alan

(UK)

 

 

Kylie's picture

Kylie

06/15/2009

Hi Sharon & Alan, I'm sorry to hear about your diagnosis and that you went through so much to get it. It must have been awful being blamed for Shay's illness. I hope your meeting at GOSH was helpful. I'm glad you found this site. When our son, Aidan, was diagnosed in March we felt so alone so it's nice to know there are others out there. I think the hardest thing for us has been the lack of concrete information. No one can tell us how long Aidan will live for, if and when his muscles will deteriorate and what the future holds for us. Some days I just cry and am overwhelmed by it all. It seems so unfair and I wonder why this has happened to us. However, one of the most useful things we did was meet with the geneticist who explained mitochondria, cells and how cells function. Just having more information made us less anxious. Aidan is now having transfusions every 3 weeks because he was getting so irritable in the two weeks prior to transfusions. He would scream all day and wasn't eating or putting on weight. We now find if we don't let his Hb levels drop too low he is a much calmer baby. The doctor has also put him on pyridoxine hydrochloride (vitamin B6) even though there is no evidence this helps Pearson's. Is Shay taking any medications? We are happy to share information and answer any questions about Aidan. Feel free to email anytime at kyraf@yahoo.com Cheers Kylie
Ellen Mollineaux's picture

Ellen Mollineaux

06/15/2009

Hi, My name is Ellen, My son Eli was diagnosed with Pearson's Syndrome in 2001. He is now 7 years old. I have read your posts and I just wanted to let you know that there are more of us out here who have been dealing with Pearson's for a couple of years. I have learned alot but most of all, I have learned that Pearson's can look different in every child. They all pretty much start out the same with requiring blood transfusions but after that, it seems to be different. Eli is doing well. Please let me know if you want to talk. Take care, Ellen

Kylie's picture

Kylie

06/15/2009

Thank you so much Ellen. I can't tell you how much it means to me to hear that your son is now 7 years old and doing well.

Tell me, does it get easier to deal with the diagnosis? I want to stop looking at my son and wondering when he will die and just enjoy him but right now it is hard to move on from the shock of the diagnosis.

Does Eli still require transfusions? Our doctor said after some years Aidan may no longer need them as he moves into the next phase of the syndrome.

Thanks again for giving me hope.

Kylie

 

Ellen Mollineaux's picture

Ellen Mollineaux

06/16/2009

Hi Kylie, Eli only needed transfusions for little over a year. We started him on eurithropoetin ( a red blood cell drug usually used for chemo patients). The dr's didnt know if it was the drug that helped or if the need for transfusions stoped on its own, it was hard to tell. How I look at Eli is a difficult question to answer. We just came back from a round of exams and although he is doing very well, he does have some implications from the Pearsons. Everytime I hear that there are some changes, I freak out (inside of course). There is so much to talk about and I bet you have a million questions. When Eli was diagnosed, I only knew of one other child in the US with Pearson's. I think I have connected with at least 12 through the internet. E-mail me and I will give you my telephone number if you want to talk. I certainly dont have all the answers, and I cant tell you your child's future but I think that what Eli can do is offer hope. Take care, Ellen  ellemoll@optonline.net

lise's picture

lise

06/24/2009

Hi there Ellen!

And thank you for sharing Eli's story.

How long after the diagnose did you start with the eurithropoetin? Our doctor have'nt mentioned such drugs at all, must say I am curious why not...

It makes me so happy to hear of children with PS, who manage and are doing well! Our son is doing well also, but his platelettes has recently started to drop, and he is showing no signs of recovering from the anemia - they say that this indicates that the marrow probably won't regain it's normal function at all, going on nine months with transfusions. I eyed a little hope regarding this, as I read your comment.

How is Eli doing in respects to walking, talking and general development vs his peers, and so on? We are still waiting for Henrik to walk on his owm. He has on a couple of occasions taken three or four solo steps, but he linger to develop from there. Still he is eager to walk around when he can grab hold of tables, chairs, his wheelcart etc.  Henrik is still not talking, but he has a vocabulary of 10-12 words that mum and dad easily understands :), and we communicate easilly with him, as he understand very much of what we tell him. Henrik is mostly happy and curious, crawling quickly about, and more often than not, up to mischief and fun... Some days when his lactate is high  he is tired and just wanna sleep (normal level: 4-5, high: 9).

Please answer back on jegervatn@yahoo.no

Hugs and kisses

Lise Kristine

Kylie's picture

Kylie

06/28/2009

Hi Ellen and Lise, I thought I would reply on here so at least everyone can share the information. I'm also curious to hear about Eli's development. I am meeting with the genetics team on Wednesday to talk about trying vitamins for Aidan. I will also mention eurithropoetin. Even though I know there is no guarantee that vitamins will do anything, I just feel like we have to try. Aidan was diagnosed earlier than most and I can't just sit here and do nothing. We are also meeting with the dietician. Aidan was going to be admitted to hospital last week because his weight gain has really slowed down. Fortunately, he just scraped by. It doesn't help that he still has a dreadful cough that makes him vomit. Next week, he also has his 4-monthly development assessment. This is something we do here for all premature babies. It's hard to know if Aidan's development is slow because of being premature and/or because of Pearson's. We have been going to physio regularly so hopefully there is some improvement. I am so completely over doctors at the moment. I guess it doesn't get any easier, or does it?? Kylie
Kylie's picture

Kylie

07/06/2009

Vitamins for Pearson's Hi all, Well I went to see the geneticist about starting Aidan on a cocktail of vitamins. I also asked about eurithropoetin but was told it wasn't something we really use in Australia. In any case, we have started him in CoQ10, Carnitine and vitamins C,B6 and E. I'm not sure if any of those will have any effect but I'm glad we are trying something. Hope you are all doing well Kylie
Ellen Mollineaux's picture

Ellen Mollineaux

07/07/2009

Hi Kylie, Eli is also taking vitamins. It was very hard to get him to take them in the past but at the last appointment, the doctor said that if there was only ONE thing he could do for a patient with mito disorders, it would be the coenzyme Q10. He now recommends the one with ubiqitol. I just placed the order and it comes in a liquid that can be put in juice. Eli is also on mega doses of vitamin d and we are checking about the carnetine. We are scheduled for an ERG (of Eli's eyes) next Monday. We also need a MRI and a resting metabolic study done. Otherwize, Eli is great. He is having a hard time not being in summer camp like all of his friends. He doesnt tolerate heat very well so summer camp is out of the question. I of course spoil him but its still not the same. Please feel free to ask me anything you want. You are also welcome to e-mail me or I am on facebook as well. Lise and I communicate through facebook so we can share pictures as well. Take care. Ellen

JoeAnne10's picture

JoeAnne10

10/14/2009

Try to give him some Life extension vitamins and I'm sure it will help. Regarding the syndrome he have, I only heart about him on House M.D series. Never heard of a real case though. I'm really sorry and I hope he will get better soon.

mandarine28's picture

mandarine28

01/09/2010

Hello

We are a couple from Quebec Canada and our son was diagnosed with bone marrow failure when he was 7 months old and had a bone marrow transplant wich was successful so far.  Last august our son started having more health issues with his eyes, kidneys, intestents, weight loss,anemia and so on.  Today january 9th 2010 he his hospitalize since one month already and waiting on a response for Pearson syndrome next week.  I would like to contact families for support and understanding.  Thanks

Cynthia

mandarine28's picture

mandarine28

06/27/2010

Hello

My son's health issues are getting worse and I need to find told or untold scientific studies on Pearson syndrom.  Anabody aware of any little track for me?

He needs an kidney transplant or soon this will be the cause of death.  His liver is now attack and also his nerves and muscular functions.

Thanks deaperate mom.

Cynthia

Kylie's picture

Kylie

07/04/2010

Hi Cynthia,

Wish i had some answers for you, Just wanted you to know that i am thinking of you and hoping you find some help out there.

Kylie

folke's picture

folke

07/20/2010

Dear Cynthia!

We hope and pray for you and your little champion!

Keep searchig for info on the web, I have little to offer but my sympathy. Be critical to whatever information beeing presented to you on Pearson's.

Tor

EmsiesDad's picture

EmsiesDad

07/27/2010

Hello Folks,

Our daughter Emily, was just diagnosed with Pearson Syndrome yesterday after 8 months of craziness.  She is 21 months and it has specifically hit her pancreas, kidneys, and liver at the moment.  We are fighting through a fungal infection from a central line presently before we begin other interventions specifically targetting the Pearson.  She has been taking Carnitine, Pancreatic Enzymes, and other meds for some time now, as the geneticist had narrowed it down to a mitochondrial disease a couple of months ago.  Not sure when blood transfusions will begin to be needed.  The docs want to establish whether or not her intestines are working properly first, as that will direct further treatment.

I am excited to learn of a network of parents.  God bless you all--and God bless our children (and their docs) as we press foward.

Aaron, Emily's Dad

EmsiesDad's picture

EmsiesDad

07/27/2010

Just began a Facebook Group entitled Pearson Syndrom Network.  I figure a lot of people use FB and that might prove helpful.

lorimar's picture

lorimar

07/28/2010

i do and woud be friend you.............God Bless....  Lorimar  :)

nadia's picture

nadia

01/26/2011

Hello everyone. My name is Nadia and I live in Turin in Italy. My daughter is 7 years old and Pearson syndrome. I would be very happy to be able to exchange information and share this pain with who can understand me.

MommySupport's picture

MommySupport

02/23/2014

My 6 year old niece was recently diagnosed with PS. It's been an uphill battle for years. I sent her mom the link to this page, so she can get in touch with you all. I am glad I have found other moms. Please post updates. I would love to know how everyone is doing. My niece is diabetic and underweight. She is doing better now but she is very weak. My heart goes out to all the moms here.