Hello - Son with Pearson's Syndrome

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

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

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

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!!!

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!!!

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)

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

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

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

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

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

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.

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

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

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

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

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

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

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

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.