Suspicious Pearson Syndrome

Hi Cynthia, My name is Ellen. I live in New York. My son was diagnosed with Pearsons Syndrome when he was one. He turned 8 in October. I have connected with parents of children with Pearsons all over the world. It would be my pleasure to talk to you. I will check back later today. Take care, Ellen

Hi Cynthia, The first thing I can tell you is that I have been in contact with at least 12 families over the years. The only thing I know for sure is that every child I have come accross with Pearsons presents differently. Some struggle ALOT and some dont seem to struggle as much. Some have feeding issues, some have eye issues, some have diabetes , etc. We have been very lucky. My son's medical issues have been few since his blood issues were resolved but unfortunately I have to add "so far". We worry everyday and are thankful for everyday. If you would like to talk more, my e-mail address is ellemoll@optonline.com or you can find me on Facebook. We ahve seen tons of doctors and maybe I can answer some questions or at least point you in the right direction. When you google Pearsons, the info can be scary and not necessarily up to date. It is still reported that there have only been 60 documented cases. That is not true. Life expectancy of 3-5...also not necessarily true! Take care, Ellen

Hello Sharon

After reviewing stories on the community online I am beginning to believe that Zach had Mito disease all along, since he was born.  At 7 months of age he was transfusion dependant for red cells and neutropenic, his plaquetts were also low.  He was then diagnosed with myelodysplastic syndrome wich he had a bone marrow transplant for.  Since, his blood cells were good until 3 weeks ago.  After 16 months he become transfusion dependant every 7 days.  I think he probably had this bone marrow transplant for nothing.  I am so frustrated right now because the doctors can't stabilize his health correctly because of a lack of ecperience.  We are dealing with student doctors on weekends and hit grown zero by monday.  I so much wan't to bring Zach to an hospital with Mito experience but it's not that easy considering different goverment laws.

Do your son have more symptoms like kidney failure, eye trouble, metabolism failure...?

Thanks

Cynthia

Hi Cynthia,

In the beginning Shay was diagnosed with MDS but our doctors are fantastic in London and they wanted to wait for the Pearson syndrome test to come back before a final diagnosis. This took an agonizing 6mths of waiting. We were on the phone to Great Ormond street hospital every week seeing if the result was in yet. When it finally come in devasted is not good enough to describe how we felt.

Shay suffers alot from fatigue and activities for him need to be carefully planned around this. Shay is on CQ10 which has made an enourmous difference to him. His hearing is great, he had his eyes tested 3 mnths ago and they did see pigmentation in them. Saying this they are not sure as Dad is Irish and I am mixed race so they think the pigmentation could be caused by me being olive skinned. He will have his eyes tested again in March and then we will know for sure if it is the Pearsons or just our genes mixed. His eyes are very sensitive in the sun so he wears sunglasses especially when he is in the car.

Shay's Kidneys are fine even though his Creatine levels are extremely low. I did ask his metobolic consultant about supplements but was told it is when they are high that we would start worrying and being low will not have any health implications for him. When the Creatine levels are high it indicates malfunction or failure or the kidneys. When talking to some parents across the globe some children are on Creatine supplements so depending on what country it seems they have their own cocktail of vitamins and supplements to give.

When Shay is poorly we do have to act quick and get him into hospital for an antibiotic drip he has a port now which makes this so much easier. The hardest is when there are student doctors on who just don't understand and it has changed the way we deal with professionals. I have become more assertive and will now insist on tests being done when Shay is poorly as they should always take blood cultures from him. It has even come to the point where I have had to phone Shays consultant up at all times of day and night just to get our local hospital to do tests when he is ill. Luckly for us we have a 24hr number for emergencys.

Saying all this, Shay is one of the happiest children I know even when he is ill. For such a young child he takes it all in his stride. It has made me realise that all children who are delivered this prognosis are very special children and for Shay I am ramaining 100% positive, life is to short to waste away being negative. It is a waiting game for us and we are on edge constantly with him. I really don't know what the future is going to hold but I do know that whatever, we can't just accept and give in to it.

Sharonx

Hi Ellen,

The first few months after the diagnosis was extremely hard for us and even though I wanted contact with other families I found this difficult. Now it's a different story I have all my emotions in control and can concentrate on the near future rather than look to far ahead and guess what may or may not happen to Shay. I feel Shay is not so badly affected as some children and my heart breaks with every story I read. Only a couple of months ago I was talking to a Mum and her lovely daughter passed away just recently from Pearsons, I have learn't not to give into each negative anymore but to look upon each day as a blessing. Your Eli will certainly give hope to other families Ellen and all we can really do is to support eachother and remain strong for our children.

Sharonx

Hi sorry to hear your devasting news of Mitochondrial disease. Sometimes words are not enough to express how you feel when those results come back. Even when you are expecting it there is always that hope somewhere that maybe they are wrong. The only way I can explain how I felt was it is like greiving for someone you still have. How long do you have to wait for the Pearsons result to come back? Shay is having a test done on Monday but to save him having a muscle biopsy they only need a first morning urine sample. Apparantly it is a new way to find out the same things but without the child experiencing the pain of a biopsy. Your all in my thoughts and prayers.

Sharon

Hello Kylie,

Zach is still in the hospital and had better days than the past few ones.  He is ill right now.  I am so wishing to return home with him but also so worried about organizing our lives based on a 2 year old attached to a machine 24 hrs a day.  I am trying to wonder how to have a normal play at the parc day with him like we used to have.

How old is Aidan and what syndrom does he have?  By the way, if you wan't to keep track of Zach's issues he as his own facebook page.  It's french and english and you can search Pensées pour le petit Zachary in the group research.

Thanks

Cynthia

Hello Kylie,

Zach is still in the hospital and had better days than the past few ones.  He is ill right now.  I am so wishing to return home with him but also so worried about organizing our lives based on a 2 year old attached to a machine 24 hrs a day.  I am trying to wonder how to have a normal play at the parc day with him like we used to have.

How old is Aidan and what syndrom does he have?  By the way, if you wan't to keep track of Zach's issues he as his own facebook page.  It's french and english and you can search Pensées pour le petit Zachary in the group research.

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

Good story shared online. I think he probably had this bone marrow transplant for nothing. I am so frustrated right now because the doctors can't stabilize his health correctly because of a lack of ecperience. We are dealing with student doctors on weekends and hit grown zero by monday.
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I am so wishing to return home with him but also so worried about organizing our lives based on a 2 year old attached to a machine 24 hrs a day. dental implant dentist

I am so frustrated right now because the doctors can't stabilize his health correctly because of a lack of ecperience. We are dealing with student doctors on weekends Used Auto Parts