Markus De Beer is 5 months old with Metabolic Disorder – We need to get him to the USA

Update posted by Marcell Bruynius On Jul 31, 2017

Markus will be scheduled for outpatient appointments, so he will be able to remain with you in your local hotel/residence.

Macy is actively working on the cost estimate. Once this is finalized, we will send to you for payment. Appointments will be scheduled once payment is confirmed.

Please note that sometimes there is a long wait for appointments as it is the summer, but we will do everything possible to expedite and organize the appointments; please do not purchase plane tickets until all appointments are secured.

Truthfully, this step can take about 2 weeks for financial clearance and scheduling all appointments, but often it is shorter.

We have a hospitality center at CHOP who can help you with finding a local hotel if you would like. Just let me know and I will put you in touch with them.

Would you kindly answer a few questions for me to ensure a smooth arrival?

Current weight:

Current Medications:

Any allergies to medications/food:

Is he alert and responsive? Smiles and recognizes you?

How many seizures does he have per day? How long do they last?

Does he have emergency seizure medication for prolonged seizures?

Does he use oxygen?

Who will be traveling with you to Philadelphia?

Please bring a car seat as this is a law in USA

Please do not hesitate to contact me with questions. We can arrange to speak on the phone if easier-we are happy to help.

Have a nice weekend,

Cathy

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Update posted by Marcell Bruynius On Jul 28, 2017

Hello Valeska and Martin,

I hope you are doing well today.

Our medical consultant has reviewed all of the medical records submitted for review.

We would be happy to see Markus in the Mitochondrial program at CHOP for further evaluation. The plan would be to repeat biochemical testing (lactate, pyruvate, amino acids, organic acids), skin biopsy for pyruvate carboxylase testing, whole exome sequencing and discuss risks/benefits of muscle biopsy for ETC enzymology, histology and mito DNA qPCR. He is recommended for additional consultations with Neurology, Audiology, Cardiology and Ophthalmology.

The Mitochondrial Medicine Center at CHOP strives for the integration of multi-disciplinary clinical care and translational research for patients of all ages living with mitochondrial disease.

We focus on finding the underlying cause of your or your child’s condition, knowledge that will help us determine the best course of treatment for each patient while working in collaboration with your primary care physician, neurologist, and other specialists. For additional information about the center, please refer to the website: http://www.chop.edu/centers-programs/mitochondrial-disease-clinical-center

Our financial team is working with your insurance company to verify benefits.

Please let me know if you would like to come to CHOP for proposed evaluation, and when you may be interested in traveling to USA.

Please do not hesitate to contact me with questions.

Sincerely,

Cathy

Cathy Timko MSN, CRNP
Clinical Nurse Manager

International Patient Services
3401 Civic Center Blvd
Philadelphia, PA 19104
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Update posted by Marcell Bruynius On Jul 26, 2017

22nd July 2017

To whom it may concern

The Children’s Hospital of Philadelphia

Roberts Center for Pediatric Research

C/O Intake Co-ordinator, International Patient Services

2716 South Street, 7th Floor

Philadelphia, PA 19146

Re: Markus De Beer

Dear Colleague,

Thank you very much for seeing this 6 month old boy with seizures and an Inherited Error of

Metabolism.

Birth History:

Emergency Caesarean Section for spontaneous preterm labour at 33 weeks gestation

APGAR 8 and 10 (no resuscitation required at birth)

Wt 2.11kg COH 29cm Lth 41cm

NICU: SIMV for 3 days (Curosurf x2 doses) nasal CPAP x 3days. Total days on Oxygen -18

NNJ – phototherapy x 4days

Follow-up visits at 2 weeks, 5weeks, 9weeks, and 12 weeks: nothing of major concern apart from his

colicky symptoms. Neurodevelopmental milestones appropriate for corrected Gestational Age.

Surgical History:

Bilateral Inguinal hernia repair on 04/05/2017 by Prof J Loveland at Sandton Mediclinic.

Feeding:

Initially on breast milk but changed to formula when mother could no longer express enough milk.

He demonstrated signs of feed intolerance with severe colicky symptoms which did not resolved on

Similac Total Comfort but somewhat improved on Neocate. His parents later changed him to Isomil

(Neocate was becoming unaffordable) and fortunately he seemed to tolerate that as well.

Medical History:

Admitted by my colleague on 27/05/17 in status epilepticus (his first ever witness seizure episode).

CSF, bloods, septic work-up, MRI brain – all appeared normal and his seizures resolved on

Phenobarbitone 3mg/Kg and Epilim 20mg/kg daily. His symptoms relapsed after a few weeks and

his medication was changed, we stopped Epilim, continued with Phenobarbitone and introduced

Keppra at 10mg/kg/day (0.3ml BD).

He had recently been review by a Paediatric Neurologist (Dr M Lippert) who suggested higher doses

of his medication Phenobarbitone 30mg daily and Levetiracetam (Keppra 100mg BD)as well as

additional Clonazepam Drops (3 PO as required, or 1 BD if adequate control is still not achieved).

The difficulty I am faced with is that he continues to fit almost daily and sometimes according to the

family, several times a day, brief and slightly prolonged episodes.

His inborn errors of metabolism screen (copy attached) are suggestive of 1) Mitochondrial Disorder

OR 2) Pyruvate Carboxylate Deficiency OR 3) 3-Hydroxyisobutyrate dehydrogenase deficiency. I

have attached all his most recent blood results, a copy of his most recent EEG etc.

Kind regards,

Dr Ishmael Mohlabi

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Update posted by Marcell Bruynius On Jul 24, 2017

Many have been asking about my nephew so I thought I would give everyone an update. My 5 month old nephew in South Africa (Ferdi's sister's son) is currently fighting for his little life. He was born with a metabolic disorder that has gone undiagnosed and untreated. They are still not sure of his exact diagnosis but all signs and symptoms are suggestive of pyruvate carboxylate disorder with a French phenotype or a mitochondrial disorder. Both have poor outcomes, especially if left untreated. The doctors and hospitals in SA have told them they are unable to perform any further testing and treatment has also been limited to controlling his seizures. We have started the process of trying to get him to CHOP for further testing. They are currently reviewing his case. Please be praying for this little boy and his parents. We will keep everyone posted if we are able to bring him here.

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