Overview - Birth to Pearson's syndrome diagnosis

• Normal pregnancy, born at term, a healthy 9lb bouncing baby boy.
• Started solids at 6 1/2 mnths old.
• Breastfed until 8mnths old, Shay's decision to suddenly stop breastfeeding.
• Tried on numerous formula milks but kept regurgitating the milk.
• Started Cow & Gate infa soy, which suited Shay.
• Showed a intolerance to 'Fromage Frais', red itcy eyes runny nose, moved to 'Alpro Yoghurts'.
• If Shay knocked himself or fell he would suddenly have a huge red raised welt on him. Even the slightest knock would look very angry. Disappeared after a couple of hours.
• Met all the normal milestones, lift head 3wks, rolls over 4mnths, sits with support 4 months, sits alone 5 months, moves around crawling 6 mnths, stands holding on 7 mnths, stands alone 11 mnths, walks holding on 11 mnths, walks alone 13 mnths, smiles 4 wks, laughs 5 wks, babbles 7 wks, copies noises 7 mnths, holds arms up to be lifted 7 mnths.
• Shay never got colds, virus's etc
• Had full vaccinations up until 18 mnths.
• Noticed a decline in March 2008 he would get colds/virus's but would only last a couple of days at max.
• Shay ate extremely well up until July 2008. He then started to refuse his evening meals. He was starting to look extremely pale.
• June 2008 more colds/virus's/chest infections, gradual increase in frequency.
• Shay's colds always turned into coughs, put on 3 different inhalers, anti-biotics and steroid tablets.
• July 2008 treated for croup in A&E at the local hospital, given another ventolin/steroids. This diagnosis of croup would be blamed for all of Shay's coughs over the coming months!!
• July 2008 still marking easily even though he appears not to have hurt himself.
• August 2008 back in A&E with same 'croup' symptoms, told doctors his lips/mouth/tongue would go very blue around 1 1/2 hours each time.More steroids/anti-biotics.
• September 2008 Shay sleeping around 4/5 hrs in the day, he gets very tired in the afternoons.
• September 2008, continually ill with virus's/colds every couple of weeks always affecting his chest with infections.
• October 2008 poorly again with his chest, very wheezy, increased inhalers, more anti-biotics/steriods.
• November 2008, Shay suddenly refuses to sleep in day even though you can see he is extremely tired. Refusing to eat evening dinner.
• November 2008, wheezy, put on anti-biotics/steroid tablets. Back to doctors 4 days later as no improvement, more anti-biotics/steroids. couple of days later took Shay to A& E, very wheezy,coughing, high fever which would come on very quickly. Shay had blue lips/mouth/ tongue. They took a chest x-ray and said his heart was enlarged and he did have chest infection.
• November 2008 - Shay had scan on heart which showed all was normal.
• 4th December 2008, Shay 'appeared' fully recovered .
• 9th December 2008 - suddenly started coughing, shaking, lips/tongue/mouth going blue and very pale. Took him to doctors who sent us straight to A&E. On the journey Shay developed a very high fever. Hospital took a chest x-ray, Shay had an infection in his right lung. At last a doctor listened about how pale he was and noticed the blue tinge around his mouth etc. Shay was admitted and had a blood test which show a haemoglobin of 3.8. Put on Iron/folic acid. I was accused of not feeding him correctly and told this must have been going on for months.
• 17th December 2008 - another blood test done which showed his haemoglobin is 4.4.
• Really worried about not getting any further with the doctors and being fobbed off, we decided to go through Bupa private medically care to find out what was wrong with our little boy.
• December19th 2008 - saw a doctor privately who requested the very 1st blood results taken at our local hospital on the 9th December. Doctor was shocked at the results!! he said Shay did not have a problem with food but that he thought we were dealing with a very rare illness. He referred us to Great Ormond Street Hospital, London UK.
• 6th January 2009 - At GOSH, bloods taken. Shay has a very large heart murmur. They don't know what is wrong with Shay.
• 7th January 2009 - Call from GOSH haemoglobin now 5.2, rest of his cell lines are all over the place.
• 7th January 2009 - Cross- match blood taken for red cell transfusion at local hospital.
• Blood type B+
• 13th January 2009 - Bone marrow biopsy at GOSH, showed very abnormal result.
• 20th January 2009 - Doctors think Shay has Myelodysplastic syndrome 99% sure. Bloods taken from family to find a tissue match for Shay for a bone marrow transplant.
• 24th January 2009 - Shay taken of iron supplements/folic acid supplements, haemoglobin 9.2.
• 5th February 2009 - haemoglobin 9.4, platelets 115, neutrophils 0.4.
• 17th February 2009 -At GOSH, more bloods taken, stool sample sent for MDS and Pearson's haemoglobin 8.4, platelets 96, neutrophils 0.26.
• 23rd February 2009 - stool test has come back clear.
• 25th February 2009- Shay's face went beetroot red across forehead and down his cheeks this redness was raised. He appeared lethargic and spaced out. Took Shay to local hospital. Noticed a pin prick rash under eyes/behind legs. Haemoglobin 7.1, platelets 114, neutrophils 0.34, Shay's weight 12.6 kg.
• 1st March 2009- Shay is getting very tired and is insisting on being carried. He starts coughing when he runs a few metres and is unable to climb the stairs without support.
• 2nd March 2009 - Hb 7.4, platelets 114, neutrophils 0.13.
• 17th March 2009 - 2nd red cell blood transfusion at local hospital.
• 24th March 2009 - GOSH testing for Fanconi's Anaemia, came back negative.
• 7th April 2009 - Hb 9.3, neutrophils 0.52, WBC 3.31, platelets 76.
• 24th April 2009 - Hb 7.3, neutrophils 0.4, WBC 3.3, platelets 120.
• 28th April 2009 - 2nd bone marrow aspirate @ GOSH. Hb 6.7, neutrophils 0.36, WBC 2.64, Platelets 126. Now thinking it could be Pearson's.
• 39th April 2009 - 3rd red cell transfusion.
• 7th May 2009 - Direct contact with chicken pox, put on zovirax 5mls q.d.s for 7 days.
• 15th May 2009- Hb 10.7, neutrophils 0.49, WBC 2.91, platelets 119.
• 21st May 2009 - Noticed Shay has very little energy at group today, red eyes/sunken, prefers to sit looking at books, prefers to stand back and watch what the other children are doing.
• 26th May 2009 - GOSH, screening is not back from King's College Hospital. Diagnosis could be Myelodyplasia or Pearson's syndrome. Hb 8.6, neutrophils 0.75, WBC 4.3, Platelets 125.
• 28th May 2009 - Feet turning, noticed when tired Shay trips more. He doesn't have much energy to even lift his legs up.
• 29th May 2009 - Phone call from GOSH Shay has Pearson's syndrome results are back.
• 2nd May 2009 -Pearson's syndrome with a 5.5 DNA Deletion.