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

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

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 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

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

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

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

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

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.